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clinvar_example_750_rows.vcf
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clinvar_example_750_rows.vcf
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##fileformat=VCFv4.1
##source=clinvar
##INFO=<ID=MUT,Number=1,Type=String,Description="MUT">
##INFO=<ID=MEASURESET_ID,Number=1,Type=String,Description="MEASURESET_ID">
##INFO=<ID=SYMBOL,Number=1,Type=String,Description="SYMBOL">
##INFO=<ID=CLINICAL_SIGNIFICANCE,Number=1,Type=String,Description="CLINICAL_SIGNIFICANCE">
##INFO=<ID=REVIEW_STATUS,Number=1,Type=String,Description="REVIEW_STATUS">
##INFO=<ID=ALL_SUBMITTERS,Number=1,Type=String,Description="ALL_SUBMITTERS">
##INFO=<ID=ALL_TRAITS,Number=1,Type=String,Description="ALL_TRAITS">
##INFO=<ID=ALL_PMIDS,Number=1,Type=String,Description="ALL_PMIDS">
##INFO=<ID=INHERITANCE_MODES,Number=1,Type=String,Description="INHERITANCE_MODES">
##INFO=<ID=AGE_OF_ONSET,Number=1,Type=String,Description="AGE_OF_ONSET">
##INFO=<ID=PREVALENCE,Number=1,Type=String,Description="PREVALENCE">
##INFO=<ID=DISEASE_MECHANISM,Number=1,Type=String,Description="DISEASE_MECHANISM">
##INFO=<ID=ORIGIN,Number=1,Type=String,Description="ORIGIN">
##INFO=<ID=GOLD_STARS,Number=1,Type=String,Description="Number of gold stars as shown on clinvar web pages to summarize review status. Lookup table described at http://www.ncbi.nlm.nih.gov/clinvar/docs/details/ was used to map the REVIEW_STATUS value to this number.">
##INFO=<ID=ALL_PATHOGENIC,Number=1,Type=String,Description="ALL_PATHOGENIC">
##INFO=<ID=ALL_CONFLICTED,Number=1,Type=String,Description="ALL_CONFLICTED">
##INFO=<ID=ALL_BENIGN,Number=1,Type=String,Description="ALL_BENIGN">
##contig=<ID=1,length=249250621>
##contig=<ID=2,length=243199373>
##contig=<ID=3,length=198022430>
##contig=<ID=4,length=191154276>
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##contig=<ID=7,length=159138663>
##contig=<ID=8,length=146364022>
##contig=<ID=9,length=141213431>
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##contig=<ID=21,length=48129895>
##contig=<ID=22,length=51304566>
##contig=<ID=MT,length=16569>
##contig=<ID=X,length=155270560>
##contig=<ID=Y,length=59373566>
##reference=Homo_sapiens_assembly19.fasta
#CHROM POS ID REF ALT QUAL FILTER INFO
1 949523 . C T . . MUT=ALT;MEASURESET_ID=183381;SYMBOL=ISG15;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification|IMMUNODEFICIENCY_38_WITH_BASAL_GANGLIA_CALCIFICATION;ALL_PMIDS=25307056;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 949696 . C CG . . MUT=ALT;MEASURESET_ID=161455;SYMBOL=ISG15;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification|IMMUNODEFICIENCY_38_WITH_BASAL_GANGLIA_CALCIFICATION;ALL_PMIDS=1..22859821..25307056;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 949739 . G T . . MUT=ALT;MEASURESET_ID=161454;SYMBOL=ISG15;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification|IMMUNODEFICIENCY_38_WITH_BASAL_GANGLIA_CALCIFICATION;ALL_PMIDS=22859821..25307056;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 955597 . G T . . MUT=ALT;MEASURESET_ID=128310;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 955619 . G C . . MUT=ALT;MEASURESET_ID=210112;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 957605 . G A . . MUT=ALT;MEASURESET_ID=243036;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347..24951643;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 957640 . C T . . MUT=ALT;MEASURESET_ID=128296;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 957693 . A T . . MUT=ALT;MEASURESET_ID=243037;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347..24951643;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 976059 . C T . . MUT=ALT;MEASURESET_ID=210111;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 976629 . C T . . MUT=ALT;MEASURESET_ID=128320;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=18414213;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 976962 . C T . . MUT=ALT;MEASURESET_ID=126556;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews|OMIM;ALL_TRAITS=Congenital_myasthenic_syndrome|MYASTHENIC_SYNDROME..CONGENITAL..8|Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347..22205389;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 976963 . A G . . MUT=ALT;MEASURESET_ID=128291;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 977330 . T C . . MUT=ALT;MEASURESET_ID=128292;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=18414213;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 977516 . T TC . . MUT=ALT;MEASURESET_ID=243038;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 979397 . G A . . MUT=ALT;MEASURESET_ID=210106;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=18414213;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 979514 . C G . . MUT=ALT;MEASURESET_ID=128293;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 979748 . A T . . MUT=ALT;MEASURESET_ID=128294;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=18414213;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 980773 . C T . . MUT=ALT;MEASURESET_ID=128295;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 980824 . G C . . MUT=ALT;MEASURESET_ID=190974;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_and_Research_Center;ALL_TRAITS=not_provided|Not_provided;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 980840 . C T . . MUT=ALT;MEASURESET_ID=210107;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 981353 . C T . . MUT=ALT;MEASURESET_ID=235570;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 981931 . A G . . MUT=ALT;MEASURESET_ID=128297;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=18414213;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 982213 . G C . . MUT=ALT;MEASURESET_ID=128298;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 982722 . A G . . MUT=ALT;MEASURESET_ID=128299;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 982783 . T C . . MUT=ALT;MEASURESET_ID=128300;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 982844 . G C . . MUT=ALT;MEASURESET_ID=128301;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign|Likely_pathogenic;REVIEW_STATUS=criteria_provided..conflicting_interpretations;ALL_SUBMITTERS=Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_and_Research_Center|Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant|not_provided|Not_provided;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=1;BENIGN=1
1 982994 . T C . . MUT=ALT;MEASURESET_ID=128302;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=18414213;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 983006 . C T . . MUT=ALT;MEASURESET_ID=128303;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 983256 . C T . . MUT=ALT;MEASURESET_ID=210108;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 983386 . C T . . MUT=ALT;MEASURESET_ID=210109;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 983506 . C T . . MUT=ALT;MEASURESET_ID=128304;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 983604 . C T . . MUT=ALT;MEASURESET_ID=128305;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 983612 . G A . . MUT=ALT;MEASURESET_ID=128306;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 984257 . C T . . MUT=ALT;MEASURESET_ID=210110;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 984302 . T C . . MUT=ALT;MEASURESET_ID=128307;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=18414213;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 984769 . C T . . MUT=ALT;MEASURESET_ID=128308;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 984971 . G A . . MUT=ALT;MEASURESET_ID=128309;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 985070 . G A . . MUT=ALT;MEASURESET_ID=252808;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 985171 . C T . . MUT=ALT;MEASURESET_ID=128311;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 985826 . G A . . MUT=ALT;MEASURESET_ID=128312;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 985853 . G A . . MUT=ALT;MEASURESET_ID=243039;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 985900 . C T . . MUT=ALT;MEASURESET_ID=128313;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=18414213;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 985955 . G C . . MUT=ALT;MEASURESET_ID=18241;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews|OMIM;ALL_TRAITS=Congenital_myasthenic_syndrome|MYASTHENIC_SYNDROME..CONGENITAL..8|Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347..19631309;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 986143 . G T . . MUT=ALT;MEASURESET_ID=126555;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews|OMIM;ALL_TRAITS=Congenital_myasthenic_syndrome|MYASTHENIC_SYNDROME..CONGENITAL..8|Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347..22205389;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 986732 . G A . . MUT=ALT;MEASURESET_ID=128314;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=18414213;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 986737 . T C . . MUT=ALT;MEASURESET_ID=128315;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 987142 . C T . . MUT=ALT;MEASURESET_ID=128316;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 987155 . G A . . MUT=ALT;MEASURESET_ID=243040;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 987200 . C T . . MUT=ALT;MEASURESET_ID=128317;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=18414213;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 989207 . G C . . MUT=ALT;MEASURESET_ID=128318;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 990280 . C T . . MUT=ALT;MEASURESET_ID=128319;SYMBOL=AGRN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=18414213;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 1149118 . G A . . MUT=ALT;MEASURESET_ID=96692;SYMBOL=TNFRSF4;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=IMMUNODEFICIENCY_16_(1_patient)|IMMUNODEFICIENCY_16_(1_patient);ALL_PMIDS=23897980;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1167851 . A G . . MUT=ALT;MEASURESET_ID=60488;SYMBOL=B3GALT6;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1167858 . C T . . MUT=ALT;MEASURESET_ID=60489;SYMBOL=B3GALT6;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1168010 . GA G . . MUT=ALT;MEASURESET_ID=60490;SYMBOL=B3GALT6;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1168064 . GTGCTGGCCA G . . MUT=ALT;MEASURESET_ID=60494;SYMBOL=B3GALT6;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1168124 . G A . . MUT=ALT;MEASURESET_ID=60486;SYMBOL=B3GALT6;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1168239 . CG C . . MUT=ALT;MEASURESET_ID=60492;SYMBOL=B3GALT6;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1168277 . G C . . MUT=ALT;MEASURESET_ID=60495;SYMBOL=B3GALT6;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity..type_1..with_fractures|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1..WITH_FRACTURES;ALL_PMIDS=23664118;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1168307 . G A . . MUT=ALT;MEASURESET_ID=60496;SYMBOL=B3GALT6;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity..type_1..with_fractures|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1..WITH_FRACTURES;ALL_PMIDS=23664118;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1168352 . C T . . MUT=ALT;MEASURESET_ID=60485;SYMBOL=B3GALT6;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1168557 . G C . . MUT=ALT;MEASURESET_ID=60487;SYMBOL=B3GALT6;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1168567 . G A . . MUT=ALT;MEASURESET_ID=193477;SYMBOL=B3GALT6;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 1168583 . T A . . MUT=ALT;MEASURESET_ID=60491;SYMBOL=B3GALT6;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1273380 . CT C . . MUT=ALT;MEASURESET_ID=208047;SYMBOL=DVL1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=23806086..24088041..25817016;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo|germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1273413 . TAGGCAGG C . . MUT=ALT;MEASURESET_ID=208050;SYMBOL=DVL1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM|GeneReviews;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=22431878..25817014;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1273425 . AA G . . MUT=ALT;MEASURESET_ID=208043;SYMBOL=DVL1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=OMIM|GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=23806086..24088041..25817016;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo|germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1273433 . TG T . . MUT=ALT;MEASURESET_ID=208049;SYMBOL=DVL1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM|GeneReviews;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=25045061..25817014;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1273466 . AC A . . MUT=ALT;MEASURESET_ID=208048;SYMBOL=DVL1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=23806086..24088041..25817016;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1273472 . AG A . . MUT=ALT;MEASURESET_ID=219223;SYMBOL=DVL1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2;ALL_PMIDS=23806086..24088041..26924530;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1273476 . CA C . . MUT=ALT;MEASURESET_ID=208045;SYMBOL=DVL1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=OMIM|GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=23806086..24088041..25045061..25817014..25817016;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1273478 . GGGGGCAGCCGGGT G . . MUT=ALT;MEASURESET_ID=208044;SYMBOL=DVL1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=OMIM|GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=23806086..24088041..25817016;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo|germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1273487 . CG C . . MUT=ALT;MEASURESET_ID=208046;SYMBOL=DVL1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=OMIM|GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=10319206..23806086..24088041..25817016;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo|germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1470750 . G A . . MUT=ALT;MEASURESET_ID=161196;SYMBOL=TMEM240;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=20050888..20301317..25070513;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1470752 . G A . . MUT=ALT;MEASURESET_ID=161192;SYMBOL=TMEM240;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=11160961..20050888..20301317..25070513;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1470772 . G C . . MUT=ALT;MEASURESET_ID=161193;SYMBOL=TMEM240;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=20050888..20301317..25070513;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1470996 . G A . . MUT=ALT;MEASURESET_ID=161194;SYMBOL=TMEM240;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=20050888..20301317..25070513;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1471103 . G A . . MUT=ALT;MEASURESET_ID=161195;SYMBOL=TMEM240;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=20050888..20301317..25070513;AGE_OF_ONSET=Adolescent;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1550992 . C A . . MUT=ALT;MEASURESET_ID=218832;SYMBOL=MIB2;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 1718817 . C T . . MUT=ALT;MEASURESET_ID=224718;SYMBOL=GNB1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Seizures|Intellectual_disability|Global_developmental_delay|Generalized_tonic-clonic_seizures|Muscular_hypotonia;ALL_PMIDS=21956720;ORIGIN=de_novo;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1735987 . T C . . MUT=ALT;MEASURESET_ID=224717;SYMBOL=GNB1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM|Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Seizures|Developmental_regression|Intellectual_disability|Expressive_language_delay|Global_developmental_delay|Focal_seizures_with_impairment_of_consciousness_or_awareness|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|EEG_with_generalized_epileptiform_discharges|Generalized_tonic-clonic_seizures|Mental_retardation..autosomal_dominant_42|Muscular_hypotonia|Multifocal_epileptiform_discharges;ALL_PMIDS=21956720..27108799;ORIGIN=de_novo|germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1736004 . A G . . MUT=ALT;MEASURESET_ID=224716;SYMBOL=GNB1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Expressive_language_delay|Seizures|Failure_to_thrive|Feeding_difficulties|Nystagmus|Cortical_visual_impairment|Strabismus|Intellectual_disability|Global_developmental_delay|Growth_delay|Limb_hypertonia|Inability_to_walk|Multifocal_epileptiform_discharges|Muscular_hypotonia;ALL_PMIDS=21956720;ORIGIN=de_novo;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1737942 . A G . . MUT=ALT;MEASURESET_ID=208722;SYMBOL=GNB1;CLINICAL_SIGNIFICANCE=Pathogenic|Uncertain_significance;REVIEW_STATUS=criteria_provided..conflicting_interpretations;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM|Laboratory_of_Molecular_Genetics_(Pr._Bezieau's_lab)..CHU_de_Nantes|Ambry_Genetics..;ALL_TRAITS=Seizures|Failure_to_thrive|Limb_hypertonia|Intellectual_disability|Growth_delay|Nystagmus|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|Myelodysplastic_syndrome|Dystonia|Muscular_hypotonia|Developmental_regression|Global_developmental_delay|Expressive_language_delay|Neurologic_(child_onset)|Mental_retardation..autosomal_dominant_42|EEG_with_generalized_epileptiform_discharges|MR/ID/DD|Strabismus|Upper_limb_hypertonia|Cleft_palate|Ophthalmologic_(child_onset)|Inborn_genetic_diseases|Infantile_axial_hypotonia|Dermatologic_(child_onset)|Inability_to_walk|Hypothyroidism|Multifocal_epileptiform_discharges;ALL_PMIDS=25356970..24394680..24121147..25730230..20301334..23619275..23169492..23037933..23652378..23881473..25560141..21956720..27108799..25626707..22947299..25485910..24022298;INHERITANCE_MODES=Autosomal_dominant_inheritance|Somatic_mutation;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=de_novo|germline|unknown|somatic;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1737942 . A T . . MUT=ALT;MEASURESET_ID=224715;SYMBOL=GNB1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM|Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Seizures|Infantile_muscular_hypotonia|Failure_to_thrive|Acute_lymphoid_leukemia|Growth_delay|Limb_hypertonia|Cortical_visual_impairment|Global_developmental_delay|Focal_seizures_with_impairment_of_consciousness_or_awareness|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|Feeding_difficulties|Mental_retardation..autosomal_dominant_42|Muscular_hypotonia|Multifocal_epileptiform_discharges;ALL_PMIDS=21956720..25485910..27108799;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=de_novo|unknown|somatic;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1737948 . T C . . MUT=ALT;MEASURESET_ID=224714;SYMBOL=GNB1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM|Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Seizures|Infantile_muscular_hypotonia|Growth_delay|Global_developmental_delay|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|EEG_with_generalized_epileptiform_discharges|Feeding_difficulties|Mental_retardation..autosomal_dominant_42|Muscular_hypotonia|Strabismus;ALL_PMIDS=21956720..27108799;ORIGIN=de_novo|germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1737952 . C T . . MUT=ALT;MEASURESET_ID=224713;SYMBOL=GNB1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Global_developmental_delay|Muscular_hypotonia;ALL_PMIDS=21956720;ORIGIN=de_novo;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1737953 . A C . . MUT=ALT;MEASURESET_ID=224712;SYMBOL=GNB1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Seizures|Failure_to_thrive|Focal_seizures_with_impairment_of_consciousness_or_awareness|Strabismus|Global_developmental_delay|Limb_hypertonia;ALL_PMIDS=21956720;ORIGIN=de_novo;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1737954 . T C . . MUT=ALT;MEASURESET_ID=224711;SYMBOL=GNB1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM|Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Infantile_muscular_hypotonia|Acute_lymphoid_leukemia|Intellectual_disability|Global_developmental_delay|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|Mental_retardation..autosomal_dominant_42|Muscular_hypotonia;ALL_PMIDS=21956720..25485910..27108799;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=de_novo|unknown|somatic;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 1959075 . A C . . MUT=ALT;MEASURESET_ID=16212;SYMBOL=GABRD;CLINICAL_SIGNIFICANCE=risk_factor;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Generalized_epilepsy_with_febrile_seizures_plus_type_5|GENERALIZED_EPILEPSY_WITH_FEBRILE_SEIZURES_PLUS..TYPE_5..SUSCEPTIBILITY_TO;ALL_PMIDS=15115768;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 1959699 . G A . . MUT=ALT;MEASURESET_ID=16213;SYMBOL=GABRD;CLINICAL_SIGNIFICANCE=risk_factor;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Epilepsy..idiopathic_generalized_10|Epilepsy..juvenile_myoclonic_7|Generalized_epilepsy_with_febrile_seizures_plus_type_5|GENERALIZED_EPILEPSY_WITH_FEBRILE_SEIZURES_PLUS..TYPE_5..SUSCEPTIBILITY_TO;ALL_PMIDS=15115768..16023832;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 1959708 . C T . . MUT=ALT;MEASURESET_ID=218470;SYMBOL=GABRD;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 1960633 . G A . . MUT=ALT;MEASURESET_ID=235308;SYMBOL=GABRD;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2160267 . T G . . MUT=ALT;MEASURESET_ID=224869;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454..23023332;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2160299 . C G . . MUT=ALT;MEASURESET_ID=37259;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454..23023332..23103230..24736733;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo|germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2160304 . C G . . MUT=ALT;MEASURESET_ID=139112;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Emory_Genetics_Laboratory..Emory_University|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=24033266..20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2160305 . G A . . MUT=ALT;MEASURESET_ID=37261;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|GeneDx;ALL_TRAITS=Not_Provided|Shprintzen-Goldberg_syndrome|not_provided|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=23023332..24736733..23103230..20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo|germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2160305 . G T . . MUT=ALT;MEASURESET_ID=37262;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|GeneDx;ALL_TRAITS=Shprintzen-Goldberg_syndrome|not_provided|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=23023332..23103230..20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo|germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2160306 . G A . . MUT=ALT;MEASURESET_ID=37260;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454..23023332..24736733;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo|unknown;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2160306 . G T . . MUT=ALT;MEASURESET_ID=39783;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454..23103230..24736733;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=unknown;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2160308 . C T . . MUT=ALT;MEASURESET_ID=39786;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454..23023332..23103230..24736733;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo|germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2160309 . C A . . MUT=ALT;MEASURESET_ID=39785;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454..23103230;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2160343 . C T . . MUT=ALT;MEASURESET_ID=213665;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2160421 . C T . . MUT=ALT;MEASURESET_ID=193249;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign|Likely_benign|Uncertain_significance;REVIEW_STATUS=criteria_provided..conflicting_interpretations;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome|not_provided;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2160484 . GTCCGACCGC G . . MUT=ALT;MEASURESET_ID=37263;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454..23023332;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo|germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2160484 . GTCCGACCGCTCC G . . MUT=ALT;MEASURESET_ID=39784;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454..23103230;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2160499 . C T . . MUT=ALT;MEASURESET_ID=213681;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2160517 . A T . . MUT=ALT;MEASURESET_ID=227947;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2160552 . G A . . MUT=ALT;MEASURESET_ID=37258;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454..23023332;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo|germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2160554 . G C . . MUT=ALT;MEASURESET_ID=224868;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454..23023332;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2160557 . G A . . MUT=ALT;MEASURESET_ID=222819;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Likely_pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Blueprint_Genetics;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2160565 . C T . . MUT=ALT;MEASURESET_ID=213682;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2160622 . C T . . MUT=ALT;MEASURESET_ID=213683;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2160661 . C T . . MUT=ALT;MEASURESET_ID=139111;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2160676 . G A . . MUT=ALT;MEASURESET_ID=239478;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2160692 . G A . . MUT=ALT;MEASURESET_ID=239479;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2160704 . CT GG . . MUT=ALT;MEASURESET_ID=213703;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2160744 . C T . . MUT=ALT;MEASURESET_ID=213684;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2160845 . A G . . MUT=ALT;MEASURESET_ID=213685;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2161003 . C T . . MUT=ALT;MEASURESET_ID=193248;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign|Uncertain_significance;REVIEW_STATUS=criteria_provided..conflicting_interpretations;ALL_SUBMITTERS=GeneDx|Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2161004 . C T . . MUT=ALT;MEASURESET_ID=213663;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2161124 . G A . . MUT=ALT;MEASURESET_ID=213686;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2161143 . A G . . MUT=ALT;MEASURESET_ID=213687;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2161153 . G A . . MUT=ALT;MEASURESET_ID=213664;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2234447 . C T . . MUT=ALT;MEASURESET_ID=213688;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2234480 . G A . . MUT=ALT;MEASURESET_ID=213666;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2234517 . G A . . MUT=ALT;MEASURESET_ID=213689;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2234528 . G A . . MUT=ALT;MEASURESET_ID=222820;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Blueprint_Genetics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2234540 . A G . . MUT=ALT;MEASURESET_ID=213706;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2234767 . G A . . MUT=ALT;MEASURESET_ID=213690;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2234790 . G A . . MUT=ALT;MEASURESET_ID=213667;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2234791 . C T . . MUT=ALT;MEASURESET_ID=213668;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2234811 . C T . . MUT=ALT;MEASURESET_ID=213691;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2234824 . C T . . MUT=ALT;MEASURESET_ID=213692;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Likely_benign|Uncertain_significance;REVIEW_STATUS=criteria_provided..conflicting_interpretations;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2234849 . C T . . MUT=ALT;MEASURESET_ID=213669;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2234850 . G A . . MUT=ALT;MEASURESET_ID=213670;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2235271 . C T . . MUT=ALT;MEASURESET_ID=213671;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2235310 . G A . . MUT=ALT;MEASURESET_ID=222821;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Blueprint_Genetics;ALL_TRAITS=Marfanoid_habitus;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2235314 . C T . . MUT=ALT;MEASURESET_ID=213693;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2235325 . G A . . MUT=ALT;MEASURESET_ID=220793;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2235331 . G A . . MUT=ALT;MEASURESET_ID=213707;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2235368 . C T . . MUT=ALT;MEASURESET_ID=213694;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2235378 . C G . . MUT=ALT;MEASURESET_ID=227946;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2235378 . C T . . MUT=ALT;MEASURESET_ID=139114;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2235405 . C T . . MUT=ALT;MEASURESET_ID=213672;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2235477 . C T . . MUT=ALT;MEASURESET_ID=213673;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2235513 . G A . . MUT=ALT;MEASURESET_ID=139115;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2235523 . G A . . MUT=ALT;MEASURESET_ID=229252;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2235812 . C T . . MUT=ALT;MEASURESET_ID=213696;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2235813 . G A . . MUT=ALT;MEASURESET_ID=213675;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2235825 . C T . . MUT=ALT;MEASURESET_ID=180522;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Blueprint_Genetics;ALL_TRAITS=Arterial_dissection|Arterial_dissection;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2235830 . G A . . MUT=ALT;MEASURESET_ID=213676;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2235837 . ATGC A . . MUT=ALT;MEASURESET_ID=213704;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2235850 . T C . . MUT=ALT;MEASURESET_ID=213677;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2235876 . C T . . MUT=ALT;MEASURESET_ID=213697;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2235889 . C T . . MUT=ALT;MEASURESET_ID=213678;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2236030 . C T . . MUT=ALT;MEASURESET_ID=239476;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2237519 . C A . . MUT=ALT;MEASURESET_ID=213708;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2237525 . C T . . MUT=ALT;MEASURESET_ID=139116;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Emory_Genetics_Laboratory..Emory_University|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=24033266..20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2237542 . G A . . MUT=ALT;MEASURESET_ID=198156;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2237561 . GAGA G . . MUT=ALT;MEASURESET_ID=213705;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2237568 . A T . . MUT=ALT;MEASURESET_ID=213698;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2237581 . C T . . MUT=ALT;MEASURESET_ID=198155;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2237662 . C T . . MUT=ALT;MEASURESET_ID=239477;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2237665 . C T . . MUT=ALT;MEASURESET_ID=139117;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2238024 . C G . . MUT=ALT;MEASURESET_ID=213699;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Likely_benign|Uncertain_significance;REVIEW_STATUS=criteria_provided..conflicting_interpretations;ALL_SUBMITTERS=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2238073 . G A . . MUT=ALT;MEASURESET_ID=213709;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2238145 . T C . . MUT=ALT;MEASURESET_ID=213710;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2238158 . G A . . MUT=ALT;MEASURESET_ID=213679;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2238170 . C G . . MUT=ALT;MEASURESET_ID=213680;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2238191 . A C . . MUT=ALT;MEASURESET_ID=213700;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2238200 . C T . . MUT=ALT;MEASURESET_ID=213701;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2238204 . GATT G . . MUT=ALT;MEASURESET_ID=222822;SYMBOL=SKI;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Blueprint_Genetics;ALL_TRAITS=Marfanoid_habitus;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2337254 . C T . . MUT=ALT;MEASURESET_ID=162433;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=20695019;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2337965 . G C . . MUT=ALT;MEASURESET_ID=6771;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=9683594;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2337966 . T TC . . MUT=ALT;MEASURESET_ID=197886;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6A;AGE_OF_ONSET=Neonatal;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2338005 . A G . . MUT=ALT;MEASURESET_ID=162432;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=19127411..6;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2338015 . T C . . MUT=ALT;MEASURESET_ID=197887;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2338158 . C G . . MUT=ALT;MEASURESET_ID=225040;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Ambry_Genetics..;ALL_TRAITS=Inborn_genetic_diseases|MR/ID/DD|Allergy/Immunologic/Infectious_(child_onset)|Hematologic_(child_onset)|Renal_(child_onset);ALL_PMIDS=22947299..23037933..23169492..23619275..23652378..23881473..24022298..24121147..24394680..25356970..25560141..25626707..25730230;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2338205 . G A . . MUT=ALT;MEASURESET_ID=162435;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=20695019;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2338223 . C G . . MUT=ALT;MEASURESET_ID=197385;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2338230 . C CT . . MUT=ALT;MEASURESET_ID=6774;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=PEROXISOME_BIOGENESIS_DISORDER_6A_(ZELLWEGER)|Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;ALL_PMIDS=20695019..10862081..9683594;AGE_OF_ONSET=Neonatal;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2338324 . C T . . MUT=ALT;MEASURESET_ID=197386;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2339890 . C T . . MUT=ALT;MEASURESET_ID=6770;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6A|PEROXISOME_BIOGENESIS_DISORDER_6A_(ZELLWEGER);ALL_PMIDS=9683594;AGE_OF_ONSET=Neonatal;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2339996 . G A . . MUT=ALT;MEASURESET_ID=196588;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2340118 . G A . . MUT=ALT;MEASURESET_ID=6772;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=9683594;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2340152 . CA C . . MUT=ALT;MEASURESET_ID=235465;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Likely_pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2340153 . AG A . . MUT=ALT;MEASURESET_ID=162431;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=19127411..8982949;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2340200 . T C . . MUT=ALT;MEASURESET_ID=129884;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2340212 . G A . . MUT=ALT;MEASURESET_ID=129883;SYMBOL=PEX10;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 2343940 . A G . . MUT=ALT;MEASURESET_ID=162434;SYMBOL=-;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=20695019;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 2488153 . A G . . MUT=ALT;MEASURESET_ID=135349;SYMBOL=-;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2490452 . C T . . MUT=ALT;MEASURESET_ID=133394;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2490513 . C G . . MUT=ALT;MEASURESET_ID=133395;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2490531 . C T . . MUT=ALT;MEASURESET_ID=133396;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2490549 . C T . . MUT=ALT;MEASURESET_ID=133397;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2490608 . A G . . MUT=ALT;MEASURESET_ID=133398;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2490609 . T C . . MUT=ALT;MEASURESET_ID=133399;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2490786 . C T . . MUT=ALT;MEASURESET_ID=133400;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2490800 . G T . . MUT=ALT;MEASURESET_ID=133401;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2490861 . G T . . MUT=ALT;MEASURESET_ID=133402;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2490865 . T A . . MUT=ALT;MEASURESET_ID=133403;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2490898 . C A . . MUT=ALT;MEASURESET_ID=133404;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2490934 . C A . . MUT=ALT;MEASURESET_ID=133405;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2490942 . C A . . MUT=ALT;MEASURESET_ID=133406;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2490954 . C T . . MUT=ALT;MEASURESET_ID=133407;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2491013 . C T . . MUT=ALT;MEASURESET_ID=133408;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2491061 . G A . . MUT=ALT;MEASURESET_ID=133409;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2491071 . C G . . MUT=ALT;MEASURESET_ID=133410;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2491071 . C T . . MUT=ALT;MEASURESET_ID=133411;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2491091 . G A . . MUT=ALT;MEASURESET_ID=133412;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2491164 . G A . . MUT=ALT;MEASURESET_ID=133413;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2491203 . CCC ACT . . MUT=ALT;MEASURESET_ID=133415;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2491205 . C T . . MUT=ALT;MEASURESET_ID=133414;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2491305 . C T . . MUT=ALT;MEASURESET_ID=135350;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2491306 . G A . . MUT=ALT;MEASURESET_ID=135353;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2491362 . C T . . MUT=ALT;MEASURESET_ID=135351;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2491365 . C T . . MUT=ALT;MEASURESET_ID=135352;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2492123 . G A . . MUT=ALT;MEASURESET_ID=135354;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2492946 . AG A . . MUT=ALT;MEASURESET_ID=133416;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2492972 . C T . . MUT=ALT;MEASURESET_ID=133417;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2493118 . C G . . MUT=ALT;MEASURESET_ID=91954;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Richard_Lifton_Laboratory..Yale_University_School_of_Medicine;ALL_TRAITS=not_provided|not_provided;ORIGIN=somatic;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2494330 . G A . . MUT=ALT;MEASURESET_ID=135355;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2494645 . C T . . MUT=ALT;MEASURESET_ID=135356;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2494657 . C T . . MUT=ALT;MEASURESET_ID=135357;SYMBOL=TNFRSF14;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 2985810 . C A . . MUT=ALT;MEASURESET_ID=228319;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3102674 . C T . . MUT=ALT;MEASURESET_ID=227038;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3102675 . G A . . MUT=ALT;MEASURESET_ID=229168;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3102751 . G A . . MUT=ALT;MEASURESET_ID=227857;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3102793 . G A . . MUT=ALT;MEASURESET_ID=241420;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3102852 . G A . . MUT=ALT;MEASURESET_ID=227864;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3103044 . C T . . MUT=ALT;MEASURESET_ID=227039;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3160692 . C T . . MUT=ALT;MEASURESET_ID=227040;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3301721 . C T . . MUT=ALT;MEASURESET_ID=227041;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3301830 . A G . . MUT=ALT;MEASURESET_ID=235271;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3313108 . C T . . MUT=ALT;MEASURESET_ID=227042;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3313138 . A C . . MUT=ALT;MEASURESET_ID=227872;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3313147 . C T . . MUT=ALT;MEASURESET_ID=227873;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3319392 . C A . . MUT=ALT;MEASURESET_ID=227874;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3319461 . C T . . MUT=ALT;MEASURESET_ID=227043;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3319500 . C T . . MUT=ALT;MEASURESET_ID=227875;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3319545 . G A . . MUT=ALT;MEASURESET_ID=229169;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3319550 . C T . . MUT=ALT;MEASURESET_ID=60728;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Dilated_cardiomyopathy_1LL|CARDIOMYOPATHY..DILATED..1LL;ALL_PMIDS=23768516;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 3322097 . C T . . MUT=ALT;MEASURESET_ID=221025;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3322107 . G A . . MUT=ALT;MEASURESET_ID=229155;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3322119 . G T . . MUT=ALT;MEASURESET_ID=229156;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3322139 . C T . . MUT=ALT;MEASURESET_ID=227022;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3322142 . G A . . MUT=ALT;MEASURESET_ID=227858;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3322160 . C G . . MUT=ALT;MEASURESET_ID=227859;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3327938 . G C . . MUT=ALT;MEASURESET_ID=229157;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3327973 . G A . . MUT=ALT;MEASURESET_ID=227023;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3328124 . G A . . MUT=ALT;MEASURESET_ID=227860;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3328187 . C T . . MUT=ALT;MEASURESET_ID=227024;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3328279 . G A . . MUT=ALT;MEASURESET_ID=227025;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3328298 . G A . . MUT=ALT;MEASURESET_ID=241421;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3328335 . G A . . MUT=ALT;MEASURESET_ID=229158;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3328339 . G A . . MUT=ALT;MEASURESET_ID=227861;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3328358 . T C . . MUT=ALT;MEASURESET_ID=227026;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3328393 . C T . . MUT=ALT;MEASURESET_ID=241422;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3328445 . G A . . MUT=ALT;MEASURESET_ID=227862;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3328480 . G A . . MUT=ALT;MEASURESET_ID=241423;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3328638 . A T . . MUT=ALT;MEASURESET_ID=229159;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3328659 . C T . . MUT=ALT;MEASURESET_ID=227027;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3328738 . G A . . MUT=ALT;MEASURESET_ID=227863;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3328821 . G C . . MUT=ALT;MEASURESET_ID=229160;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3328850 . G T . . MUT=ALT;MEASURESET_ID=229161;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3328852 . A T . . MUT=ALT;MEASURESET_ID=227028;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3328861 . C T . . MUT=ALT;MEASURESET_ID=220733;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3328865 . A T . . MUT=ALT;MEASURESET_ID=60724;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Left_ventricular_noncompaction_8|LEFT_VENTRICULAR_NONCOMPACTION_8;ALL_PMIDS=23768516;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 3328891 . G A . . MUT=ALT;MEASURESET_ID=241424;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3329051 . G A . . MUT=ALT;MEASURESET_ID=229162;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign|Uncertain_significance;REVIEW_STATUS=criteria_provided..conflicting_interpretations;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3329195 . C T . . MUT=ALT;MEASURESET_ID=229163;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3329208 . A G . . MUT=ALT;MEASURESET_ID=60726;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Left_ventricular_noncompaction_8|LEFT_VENTRICULAR_NONCOMPACTION_8;ALL_PMIDS=23768516;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 3329210 . G A . . MUT=ALT;MEASURESET_ID=241425;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3329213 . G A . . MUT=ALT;MEASURESET_ID=241426;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3329229 . G C . . MUT=ALT;MEASURESET_ID=227865;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=26350513..24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3329263 . C T . . MUT=ALT;MEASURESET_ID=227029;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3329267 . G A . . MUT=ALT;MEASURESET_ID=227030;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3329337 . C T . . MUT=ALT;MEASURESET_ID=229164;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3331154 . C T . . MUT=ALT;MEASURESET_ID=227866;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3331180 . T C . . MUT=ALT;MEASURESET_ID=60729;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Dilated_cardiomyopathy_1LL|CARDIOMYOPATHY..DILATED..1LL;ALL_PMIDS=23768516;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 3331193 . G A . . MUT=ALT;MEASURESET_ID=227031;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3334441 . T C . . MUT=ALT;MEASURESET_ID=241427;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3334447 . C T . . MUT=ALT;MEASURESET_ID=218791;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|Not_specified;ORIGIN=unknown;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3334486 . C A . . MUT=ALT;MEASURESET_ID=229165;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3334493 . C T . . MUT=ALT;MEASURESET_ID=227032;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3334505 . A ACC . . MUT=ALT;MEASURESET_ID=229166;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3334556 . G A . . MUT=ALT;MEASURESET_ID=227867;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3342130 . G A . . MUT=ALT;MEASURESET_ID=229167;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3342307 . C T . . MUT=ALT;MEASURESET_ID=241428;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3342324 . G A . . MUT=ALT;MEASURESET_ID=227033;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3342326 . G C . . MUT=ALT;MEASURESET_ID=227868;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3342611 . G A . . MUT=ALT;MEASURESET_ID=227869;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3342634 . C T . . MUT=ALT;MEASURESET_ID=241429;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3342635 . C T . . MUT=ALT;MEASURESET_ID=227034;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3342640 . G A . . MUT=ALT;MEASURESET_ID=227870;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3342774 . C T . . MUT=ALT;MEASURESET_ID=241430;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 3342804 . G T . . MUT=ALT;MEASURESET_ID=227035;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3347452 . G A . . MUT=ALT;MEASURESET_ID=60727;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign|Pathogenic;REVIEW_STATUS=criteria_provided..conflicting_interpretations;ALL_SUBMITTERS=OMIM|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Dilated_cardiomyopathy_1LL|Not_specified|Left_ventricular_noncompaction_8|CARDIOMYOPATHY..DILATED..1LL;ALL_PMIDS=24033266..23768516;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=1;BENIGN=1
1 3348629 . A T . . MUT=ALT;MEASURESET_ID=241431;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Left_ventricular_noncompaction_8;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3348695 . T C . . MUT=ALT;MEASURESET_ID=227037;SYMBOL=PRDM16;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 3732936 . T C . . MUT=ALT;MEASURESET_ID=221277;SYMBOL=CEP104;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Joubert_syndrome_25|JOUBERT_SYNDROME_25;ALL_PMIDS=26477546;AGE_OF_ONSET=Antenatal;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 3751643 . T TA . . MUT=ALT;MEASURESET_ID=221275;SYMBOL=CEP104;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Joubert_syndrome_25|JOUBERT_SYNDROME_25;ALL_PMIDS=26477546;AGE_OF_ONSET=Antenatal;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 3756170 . A G . . MUT=ALT;MEASURESET_ID=221274;SYMBOL=CEP104;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Joubert_syndrome_25|JOUBERT_SYNDROME_25;ALL_PMIDS=26477546..7;AGE_OF_ONSET=Antenatal;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 3761541 . G A . . MUT=ALT;MEASURESET_ID=221276;SYMBOL=CEP104;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Joubert_syndrome_25|JOUBERT_SYNDROME_25;ALL_PMIDS=26477546;AGE_OF_ONSET=Antenatal;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 5923427 . A T . . MUT=ALT;MEASURESET_ID=95686;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5923461 . C T . . MUT=ALT;MEASURESET_ID=196631;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5923976 . G A . . MUT=ALT;MEASURESET_ID=215887;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5924015 . G A . . MUT=ALT;MEASURESET_ID=190975;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Likely_pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_and_Research_Center;ALL_TRAITS=not_provided|Not_provided;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 5924410 . C T . . MUT=ALT;MEASURESET_ID=215886;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5924467 . G A . . MUT=ALT;MEASURESET_ID=196137;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5924483 . T C . . MUT=ALT;MEASURESET_ID=196138;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5924518 . G A . . MUT=ALT;MEASURESET_ID=95685;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Invitae;ALL_TRAITS=not_specified|Nephronophthisis;ALL_PMIDS=23757202..27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5924551 . C A . . MUT=ALT;MEASURESET_ID=167370;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5924557 . G A . . MUT=ALT;MEASURESET_ID=167371;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Likely_benign|Uncertain_significance;REVIEW_STATUS=criteria_provided..conflicting_interpretations;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Invitae;ALL_TRAITS=Nephronophthisis|not_provided;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5925224 . G A . . MUT=ALT;MEASURESET_ID=95684;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5925304 . G A . . MUT=ALT;MEASURESET_ID=196032;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Invitae;ALL_TRAITS=not_specified|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5926502 . C T . . MUT=ALT;MEASURESET_ID=195976;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5926503 . G A . . MUT=ALT;MEASURESET_ID=188389;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis|Nephronophthisis;ALL_PMIDS=0..15776426..22550138..27336129..3574..4;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5926507 . T C . . MUT=ALT;MEASURESET_ID=95683;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5927169 . G A . . MUT=ALT;MEASURESET_ID=220304;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5927818 . G A . . MUT=ALT;MEASURESET_ID=195828;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5927943 . G A . . MUT=ALT;MEASURESET_ID=95682;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5933384 . C G . . MUT=ALT;MEASURESET_ID=95681;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5934581 . C T . . MUT=ALT;MEASURESET_ID=167372;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5934602 . G A . . MUT=ALT;MEASURESET_ID=190976;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Likely_pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_and_Research_Center;ALL_TRAITS=not_provided|Not_provided;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 5934618 . G A . . MUT=ALT;MEASURESET_ID=240970;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5934710 . C T . . MUT=ALT;MEASURESET_ID=220869;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5934942 . G A . . MUT=ALT;MEASURESET_ID=195613;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5934950 . C T . . MUT=ALT;MEASURESET_ID=195609;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5935006 . A G . . MUT=ALT;MEASURESET_ID=3402;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Nephronophthisis_4|NEPHRONOPHTHISIS_4;ALL_PMIDS=12244321;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 5935013 . C T . . MUT=ALT;MEASURESET_ID=195608;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5935037 . G GGGAGC . . MUT=ALT;MEASURESET_ID=95680;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 5935064 . T C . . MUT=ALT;MEASURESET_ID=195610;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics|Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5935086 . G A . . MUT=ALT;MEASURESET_ID=195614;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5935096 . C T . . MUT=ALT;MEASURESET_ID=167373;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Invitae;ALL_TRAITS=not_specified|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5935102 . C T . . MUT=ALT;MEASURESET_ID=240969;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5935110 . G A . . MUT=ALT;MEASURESET_ID=167374;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5935162 . A T . . MUT=REF;MEASURESET_ID=167375;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5935180 . G A . . MUT=ALT;MEASURESET_ID=195612;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5937162 . C T . . MUT=ALT;MEASURESET_ID=240968;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5937163 . G T . . MUT=ALT;MEASURESET_ID=167376;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5937168 . G A . . MUT=ALT;MEASURESET_ID=95679;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5937246 . C T . . MUT=ALT;MEASURESET_ID=95678;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5937327 . C T . . MUT=ALT;MEASURESET_ID=95677;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5940242 . C T . . MUT=ALT;MEASURESET_ID=95676;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5940243 . G A . . MUT=ALT;MEASURESET_ID=95675;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5940275 . C T . . MUT=ALT;MEASURESET_ID=194970;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5947366 . T C . . MUT=ALT;MEASURESET_ID=194865;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5947406 . T C . . MUT=ALT;MEASURESET_ID=194866;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5947454 . G A . . MUT=ALT;MEASURESET_ID=3400;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Nephronophthisis_4|NEPHRONOPHTHISIS_4;ALL_PMIDS=12244321;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 5947463 . C A . . MUT=ALT;MEASURESET_ID=3399;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Nephronophthisis_4|NEPHRONOPHTHISIS_4;ALL_PMIDS=12244321;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 5947471 . A T . . MUT=ALT;MEASURESET_ID=156398;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Molecular_Diagnostics_Laboratory..Seoul_National_University_Hospital;ALL_TRAITS=Leber's_amaurosis|Leber_congenital_amaurosis;ALL_PMIDS=20301475;ORIGIN=unknown;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5947496 . G A . . MUT=ALT;MEASURESET_ID=3404;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews|OMIM;ALL_TRAITS=Nephronophthisis|SENIOR-LOKEN_SYNDROME_4|Senior-Loken_syndrome_4;ALL_PMIDS=11920287..27336129..12205563..6837691;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 5950939 . C T . . MUT=ALT;MEASURESET_ID=95674;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Invitae;ALL_TRAITS=not_specified|Nephronophthisis;ALL_PMIDS=23757202..27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5950975 . C T . . MUT=ALT;MEASURESET_ID=194764;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Invitae;ALL_TRAITS=not_specified|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5951013 . C T . . MUT=ALT;MEASURESET_ID=240967;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5951029 . G A . . MUT=ALT;MEASURESET_ID=194765;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=15776426;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5951034 . C T . . MUT=ALT;MEASURESET_ID=156399;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Molecular_Diagnostics_Laboratory..Seoul_National_University_Hospital;ALL_TRAITS=Leber's_amaurosis|Leber_congenital_amaurosis;ALL_PMIDS=20301475;ORIGIN=unknown;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5964776 . G A . . MUT=ALT;MEASURESET_ID=3401;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM|Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_and_Research_Center;ALL_TRAITS=Cerebello-oculo-renal_syndrome_(nephronophthisis..oculomotor_apraxia_and_cerebellar_abnormalities)|Nephronophthisis_4|Infertility|NEPHRONOPHTHISIS_4;ALL_PMIDS=25558065..12244321;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=All_ages;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 5964789 . G A . . MUT=ALT;MEASURESET_ID=240966;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5964848 . G A . . MUT=ALT;MEASURESET_ID=3405;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews|OMIM;ALL_TRAITS=Nephronophthisis|SENIOR-LOKEN_SYNDROME_4|Senior-Loken_syndrome_4;ALL_PMIDS=27336129..12205563..1248184;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 5964854 . C T . . MUT=ALT;MEASURESET_ID=194659;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5965372 . T C . . MUT=ALT;MEASURESET_ID=215885;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5965380 . T C . . MUT=ALT;MEASURESET_ID=194539;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5965381 . C T . . MUT=ALT;MEASURESET_ID=95673;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5965455 . C T . . MUT=ALT;MEASURESET_ID=240965;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5965750 . G C . . MUT=ALT;MEASURESET_ID=235419;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5965823 . G A . . MUT=ALT;MEASURESET_ID=194411;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5967166 . G A . . MUT=ALT;MEASURESET_ID=95672;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5967244 . C T . . MUT=ALT;MEASURESET_ID=219984;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5967253 . C T . . MUT=ALT;MEASURESET_ID=194253;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5969225 . G C . . MUT=ALT;MEASURESET_ID=215518;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis|Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5969233 . C T . . MUT=ALT;MEASURESET_ID=215517;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5969280 . G A . . MUT=ALT;MEASURESET_ID=166893;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5987696 . T C . . MUT=ALT;MEASURESET_ID=95671;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 5987774 . G T . . MUT=ALT;MEASURESET_ID=240964;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 5987831 . G A . . MUT=ALT;MEASURESET_ID=193899;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Invitae;ALL_TRAITS=Nephronophthisis|not_provided;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6007194 . C A . . MUT=ALT;MEASURESET_ID=199135;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6007204 . A G . . MUT=ALT;MEASURESET_ID=199134;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6007278 . T C . . MUT=ALT;MEASURESET_ID=95670;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6008177 . C T . . MUT=ALT;MEASURESET_ID=198869;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6012857 . G T . . MUT=ALT;MEASURESET_ID=198564;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6021928 . T C . . MUT=ALT;MEASURESET_ID=240971;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6027365 . C T . . MUT=ALT;MEASURESET_ID=235474;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6027384 . G A . . MUT=ALT;MEASURESET_ID=215888;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6027450 . C T . . MUT=ALT;MEASURESET_ID=95687;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6038330 . C A . . MUT=ALT;MEASURESET_ID=196470;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6038338 . A G . . MUT=ALT;MEASURESET_ID=196471;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6038342 . G A . . MUT=ALT;MEASURESET_ID=196469;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6038476 . AG A . . MUT=ALT;MEASURESET_ID=220231;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Nephronophthisis;ALL_PMIDS=27336129;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6046311 . A C . . MUT=ALT;MEASURESET_ID=195305;SYMBOL=NPHP4;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6158569 . A G . . MUT=ALT;MEASURESET_ID=218544;SYMBOL=KCNAB2;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6314749 . G A . . MUT=ALT;MEASURESET_ID=208391;SYMBOL=GPR153;CLINICAL_SIGNIFICANCE=Likely_pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Dr._Guy_Rouleau's_laboratory..McGill_University;ALL_TRAITS=Childhood-Onset_Schizophrenia|Childhood_Onset_Schizophrenia;ALL_PMIDS=26508570;ORIGIN=de_novo;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 6488328 . C T . . MUT=ALT;MEASURESET_ID=228670;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6488373 . G T . . MUT=ALT;MEASURESET_ID=180073;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6488430 . G A . . MUT=ALT;MEASURESET_ID=179234;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6501044 . C G . . MUT=ALT;MEASURESET_ID=226636;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6501066 . C A . . MUT=ALT;MEASURESET_ID=228671;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6504566 . G A . . MUT=ALT;MEASURESET_ID=163411;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6504575 . C T . . MUT=ALT;MEASURESET_ID=228668;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6504598 . C T . . MUT=ALT;MEASURESET_ID=163412;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6504599 . C G . . MUT=ALT;MEASURESET_ID=227356;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6504619 . C T . . MUT=ALT;MEASURESET_ID=178607;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6504630 . G A . . MUT=ALT;MEASURESET_ID=227357;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6504644 . C T . . MUT=ALT;MEASURESET_ID=179446;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6504654 . T G . . MUT=ALT;MEASURESET_ID=163413;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6504750 . T C . . MUT=ALT;MEASURESET_ID=227358;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6511694 . G A . . MUT=ALT;MEASURESET_ID=227359;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6511697 . C T . . MUT=ALT;MEASURESET_ID=226633;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6511773 . A G . . MUT=ALT;MEASURESET_ID=179396;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6511815 . G A . . MUT=ALT;MEASURESET_ID=226634;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6511901 . G A . . MUT=ALT;MEASURESET_ID=226635;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6511951 . C T . . MUT=ALT;MEASURESET_ID=228669;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6511986 . A C . . MUT=ALT;MEASURESET_ID=4420;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Deafness..without_vestibular_involvement..autosomal_dominant|DEAFNESS..AUTOSOMAL_DOMINANT..WITHOUT_VESTIBULAR_INVOLVEMENT;ALL_PMIDS=15930085;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 6512061 . G A . . MUT=ALT;MEASURESET_ID=4421;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Deafness..without_vestibular_involvement..autosomal_dominant|DEAFNESS..AUTOSOMAL_DOMINANT..WITHOUT_VESTIBULAR_INVOLVEMENT;ALL_PMIDS=15930085;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 6512084 . C T . . MUT=ALT;MEASURESET_ID=227360;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6512088 . T C . . MUT=ALT;MEASURESET_ID=225044;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Ambry_Genetics..;ALL_TRAITS=Inborn_genetic_diseases|MR/ID/DD|Audiologic/Otolaryngologic_(child_onset)|Musculoskeletal/Structural_(child_onset)|Neurologic_(child_onset);ALL_PMIDS=22947299..23037933..23169492..23619275..23652378..23881473..24022298..24121147..24394680..25356970..25560141..25626707..25730230;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6512152 . G A . . MUT=ALT;MEASURESET_ID=4422;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Deafness..without_vestibular_involvement..autosomal_dominant|DEAFNESS..AUTOSOMAL_DOMINANT..WITHOUT_VESTIBULAR_INVOLVEMENT;ALL_PMIDS=15930085;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 6517335 . G A . . MUT=ALT;MEASURESET_ID=227361;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6520145 . G A . . MUT=ALT;MEASURESET_ID=163414;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6520212 . G A . . MUT=ALT;MEASURESET_ID=227355;SYMBOL=ESPN;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6527996 . C A . . MUT=ALT;MEASURESET_ID=246207;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6528029 . C T . . MUT=ALT;MEASURESET_ID=195526;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=GeneDx|Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6528048 . C A . . MUT=ALT;MEASURESET_ID=246359;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6528176 . A G . . MUT=ALT;MEASURESET_ID=195527;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6528287 . G A . . MUT=ALT;MEASURESET_ID=246413;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6528302 . T C . . MUT=ALT;MEASURESET_ID=235230;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6528332 . G A . . MUT=ALT;MEASURESET_ID=195528;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6528371 . C T . . MUT=ALT;MEASURESET_ID=245769;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6528438 . C G . . MUT=ALT;MEASURESET_ID=60779;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Charcot-Marie-Tooth_disease..recessive_intermediate_c|CHARCOT-MARIE-TOOTH_DISEASE..RECESSIVE_INTERMEDIATE_C;ALL_PMIDS=23844677;AGE_OF_ONSET=Adult;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 6528438 . C T . . MUT=ALT;MEASURESET_ID=234692;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6529443 . A G . . MUT=ALT;MEASURESET_ID=194881;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6529456 . G A . . MUT=ALT;MEASURESET_ID=60780;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Charcot-Marie-Tooth_disease..recessive_intermediate_c|CHARCOT-MARIE-TOOTH_DISEASE..RECESSIVE_INTERMEDIATE_C;ALL_PMIDS=23844677;AGE_OF_ONSET=Adult;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 6529504 . A G . . MUT=ALT;MEASURESET_ID=1019;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Pathogenic|not_provided;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM|SN_ONGC_Dept_of_Genetics_and_Molecular_biology_Vision_Research_Foundation;ALL_TRAITS=Distal_spinal_muscular_atrophy..autosomal_recessive_4|SPINAL_MUSCULAR_ATROPHY..DISTAL..AUTOSOMAL_RECESSIVE..4|Distal_spinal_muscular_atrophy..autosomal_recessive_4;ALL_PMIDS=16728649..17564964;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 6529605 . A G . . MUT=ALT;MEASURESET_ID=194777;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6529711 . G T . . MUT=ALT;MEASURESET_ID=245844;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6530358 . C T . . MUT=ALT;MEASURESET_ID=246143;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6530367 . C T . . MUT=ALT;MEASURESET_ID=194669;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6530630 . G A . . MUT=ALT;MEASURESET_ID=194553;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=GeneDx|Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6530674 . G A . . MUT=ALT;MEASURESET_ID=194554;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6530830 . C G . . MUT=ALT;MEASURESET_ID=245888;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6532673 . G A . . MUT=ALT;MEASURESET_ID=245662;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6533059 . A G . . MUT=ALT;MEASURESET_ID=234903;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6533111 . C CGTCTTCA . . MUT=ALT;MEASURESET_ID=60778;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Charcot-Marie-Tooth_disease..recessive_intermediate_c|CHARCOT-MARIE-TOOTH_DISEASE..RECESSIVE_INTERMEDIATE_C;ALL_PMIDS=23777631;AGE_OF_ONSET=Adult;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 6533313 . G A . . MUT=ALT;MEASURESET_ID=245734;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6533387 . T C . . MUT=ALT;MEASURESET_ID=198894;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=GeneDx|Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6533393 . G C . . MUT=ALT;MEASURESET_ID=198895;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6533415 . C T . . MUT=ALT;MEASURESET_ID=198896;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6533468 . G A . . MUT=ALT;MEASURESET_ID=245661;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6534113 . C T . . MUT=ALT;MEASURESET_ID=246293;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6534123 . C T . . MUT=ALT;MEASURESET_ID=245720;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6534146 . C T . . MUT=ALT;MEASURESET_ID=198580;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=GeneDx|Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6534182 . A G . . MUT=ALT;MEASURESET_ID=246065;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6534555 . G A . . MUT=ALT;MEASURESET_ID=245731;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6534643 . C T . . MUT=ALT;MEASURESET_ID=245660;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6535135 . C T . . MUT=ALT;MEASURESET_ID=245867;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6536052 . G A . . MUT=ALT;MEASURESET_ID=245659;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6536057 . G A . . MUT=ALT;MEASURESET_ID=245987;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6536067 . G A . . MUT=ALT;MEASURESET_ID=196499;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6537593 . TG T . . MUT=ALT;MEASURESET_ID=60777;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Charcot-Marie-Tooth_disease..recessive_intermediate_c|CHARCOT-MARIE-TOOTH_DISEASE..RECESSIVE_INTERMEDIATE_C;ALL_PMIDS=23777631;AGE_OF_ONSET=Adult;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 6537598 . G T . . MUT=ALT;MEASURESET_ID=246031;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 6551692 . C T . . MUT=ALT;MEASURESET_ID=138696;SYMBOL=PLEKHG5;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 6885190 . T A . . MUT=ALT;MEASURESET_ID=252997;SYMBOL=CAMTA1;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genome_Clinic_of_Geneva..University_Hospital_of_Geneva;ALL_TRAITS=Cerebellar_ataxia..nonprogressive..with_mental_retardation;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=maternal;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 7723406 . TC T . . MUT=ALT;MEASURESET_ID=235450;SYMBOL=CAMTA1;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 7723588 . C T . . MUT=ALT;MEASURESET_ID=128566;SYMBOL=CAMTA1;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 7723957 . G A . . MUT=ALT;MEASURESET_ID=128564;SYMBOL=CAMTA1;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 7724601 . G A . . MUT=ALT;MEASURESET_ID=252694;SYMBOL=CAMTA1;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 7725175 . G A . . MUT=ALT;MEASURESET_ID=210560;SYMBOL=CAMTA1;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 7796567 . A G . . MUT=ALT;MEASURESET_ID=216897;SYMBOL=CAMTA1;CLINICAL_SIGNIFICANCE=Likely_pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=UCLA_Clinical_Genomics_Center..UCLA;ALL_TRAITS=Cerebellar_ataxia..nonprogressive..with_mental_retardation|Cerebellar_ataxia..nonprogressive..with_mental_retardation;ALL_PMIDS=25326637;AGE_OF_ONSET=Infancy;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 7797503 . C G . . MUT=ALT;MEASURESET_ID=128565;SYMBOL=CAMTA1;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 7848184 . G A . . MUT=ALT;MEASURESET_ID=252710;SYMBOL=PER3;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 7869953 . C G . . MUT=ALT;MEASURESET_ID=224889;SYMBOL=PER3;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_for_the_individual_variant;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Advanced_sleep_phase_syndrome..familial..3|ADVANCED_SLEEP_PHASE_SYNDROME..FAMILIAL..3_(1_family);ALL_PMIDS=26903630;AGE_OF_ONSET=Adolescent;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 7998823 . C T . . MUT=ALT;MEASURESET_ID=252590;SYMBOL=TNFRSF9;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 8022923 . G A . . MUT=ALT;MEASURESET_ID=7065;SYMBOL=PARK7;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Parkinson_disease_7|PARKINSON_DISEASE_7..AUTOSOMAL_RECESSIVE_EARLY-ONSET;ALL_PMIDS=12953260..20301402..22492997;AGE_OF_ONSET=Adult;PREVALENCE=1-5_/_10_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 8025408 . G T . . MUT=ALT;MEASURESET_ID=7069;SYMBOL=PARK7;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Parkinson_disease..autosomal_recessive_early-onset..digenic..PINK1/DJ1|PARKINSON_DISEASE..AUTOSOMAL_RECESSIVE_EARLY-ONSET..DIGENIC..PINK1/DJ1;ALL_PMIDS=16632486..20301402;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 8025485 . G C . . MUT=ALT;MEASURESET_ID=7067;SYMBOL=PARK7;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Parkinson_disease_7|PARKINSON_DISEASE_7..AUTOSOMAL_RECESSIVE_EARLY-ONSET;ALL_PMIDS=15365989..20301402;AGE_OF_ONSET=Adult;PREVALENCE=1-5_/_10_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 8037788 . G C . . MUT=ALT;MEASURESET_ID=96726;SYMBOL=PARK7;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Neurogenetic_Laboratory..Oslo_University_Hospital;ALL_TRAITS=Parkinson_disease..late-onset|Parkinson's_disease;ALL_PMIDS=20301402..20482602;ORIGIN=not_provided;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 8044990 . A C . . MUT=ALT;MEASURESET_ID=7066;SYMBOL=PARK7;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Parkinson_disease_7|PARKINSON_DISEASE_7..AUTOSOMAL_RECESSIVE_EARLY-ONSET;ALL_PMIDS=12953260..20301402..23792957;AGE_OF_ONSET=Adult;PREVALENCE=1-5_/_10_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 8045031 . G A . . MUT=ALT;MEASURESET_ID=60700;SYMBOL=PARK7;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;REVIEW_STATUS=no_assertion_for_the_individual_variant;ALL_SUBMITTERS=OMIM;ALL_TRAITS=PARKINSON_DISEASE_7..AUTOSOMAL_RECESSIVE_EARLY-ONSET|Parkinson_disease_7;ALL_PMIDS=20301402..16240358;AGE_OF_ONSET=Adult;PREVALENCE=1-5_/_10_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 8045041 . T C . . MUT=ALT;MEASURESET_ID=7064;SYMBOL=PARK7;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Parkinson_disease_7|PARKINSON_DISEASE_7..AUTOSOMAL_RECESSIVE_EARLY-ONSET;ALL_PMIDS=12446870..20301402..20639397..22492997;AGE_OF_ONSET=Adult;PREVALENCE=1-5_/_10_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 8418810 . G C . . MUT=ALT;MEASURESET_ID=236217;SYMBOL=RERE;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain..eye..or_heart|NEURODEVELOPMENTAL_DISORDER_WITH_ANOMALIES_OF_THE_BRAIN..EYE..AND_HEART;ALL_PMIDS=27087320;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 8419976 . C T . . MUT=ALT;MEASURESET_ID=236216;SYMBOL=RERE;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain..eye..or_heart|NEURODEVELOPMENTAL_DISORDER_WITH_ANOMALIES_OF_THE_BRAIN..EYE..AND_HEART;ALL_PMIDS=27087320;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 8420421 . G A . . MUT=ALT;MEASURESET_ID=235329;SYMBOL=RERE;CLINICAL_SIGNIFICANCE=Likely_pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=de_novo;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 9099936 . G A . . MUT=ALT;MEASURESET_ID=207859;SYMBOL=SLC2A5;CLINICAL_SIGNIFICANCE=association;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Laboratory_for_Medical_Science_Mathematics..RIKEN;ALL_TRAITS=Long_QT_syndrome|Long_QT_syndrome;ALL_PMIDS=23994779..26132555;INHERITANCE_MODES=Autosomal_dominant_inheritance;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 9305316 . AC A . . MUT=ALT;MEASURESET_ID=31587;SYMBOL=H6PD;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Cortisone_reductase_deficiency_1|CORTISONE_REDUCTASE_DEFICIENCY_1;ALL_PMIDS=11150889..18628520;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 9307230 . T A . . MUT=ALT;MEASURESET_ID=191261;SYMBOL=H6PD;CLINICAL_SIGNIFICANCE=Likely_pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_and_Research_Center;ALL_TRAITS=not_provided|Not_provided;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 9322320 . C G . . MUT=ALT;MEASURESET_ID=31586;SYMBOL=H6PD;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Cortisone_reductase_deficiency_1|CORTISONE_REDUCTASE_DEFICIENCY_1;ALL_PMIDS=12858176..18628520;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 9322332 . G A . . MUT=ALT;MEASURESET_ID=31584;SYMBOL=H6PD;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Cortisone_reductase_deficiency_1|CORTISONE_REDUCTASE_DEFICIENCY_1;ALL_PMIDS=10522997..18628520;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 9323628 . G A . . MUT=ALT;MEASURESET_ID=31585;SYMBOL=H6PD;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Cortisone_reductase_deficiency_1|CORTISONE_REDUCTASE_DEFICIENCY_1;ALL_PMIDS=12858176..18628520;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 9323910 . G A . . MUT=ALT;MEASURESET_ID=16131;SYMBOL=H6PD;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Cortisone_reductase_deficiency_1|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=12858176..15827106..16091483..16817821..17062770..18628520;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 9324408 . T TTGAACAGGTGGTTGACCTGTGGCCGGGTC . . MUT=ALT;MEASURESET_ID=16130;SYMBOL=H6PD;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Cortisone_reductase_deficiency_1|CORTISONE_REDUCTASE_DEFICIENCY_1;ALL_PMIDS=10522997..12858176..18628520..4;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 9777666 . C A . . MUT=ALT;MEASURESET_ID=132806;SYMBOL=PIK3CD;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Immunodeficiency_14|IMMUNODEFICIENCY_14;ALL_PMIDS=24165795;AGE_OF_ONSET=Adult;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 9779982 . T C . . MUT=ALT;MEASURESET_ID=132808;SYMBOL=PIK3CD;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Immunodeficiency_14|IMMUNODEFICIENCY_14;ALL_PMIDS=24610295;AGE_OF_ONSET=Adult;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 9780851 . G A . . MUT=ALT;MEASURESET_ID=132807;SYMBOL=PIK3CD;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Immunodeficiency_14|IMMUNODEFICIENCY_14;ALL_PMIDS=24165795;AGE_OF_ONSET=Adult;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 9781179 . C T . . MUT=ALT;MEASURESET_ID=252642;SYMBOL=PIK3CD;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 9787030 . G A . . MUT=ALT;MEASURESET_ID=88675;SYMBOL=PIK3CD;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=OMIM|Department_of_Medicine..University_of_Cambridge|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=Immunodeficiency_14|not_provided|IMMUNODEFICIENCY_14|Activated_PI3K-Delta_Syndrome_(APDS);ALL_PMIDS=24610295..25741868..16984281..24136356..24165795;AGE_OF_ONSET=Adult;PREVALENCE=<1_/_1_000_000;ORIGIN=de_novo|germline|inherited;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10032156 . G A . . MUT=ALT;MEASURESET_ID=37140;SYMBOL=NMNAT1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Leber_congenital_amaurosis_9|LEBER_CONGENITAL_AMAUROSIS_9;ALL_PMIDS=20301475..22842227;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10032168 . G A . . MUT=ALT;MEASURESET_ID=195375;SYMBOL=NMNAT1;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=22842227..22842229..22842230;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10032184 . A G . . MUT=ALT;MEASURESET_ID=190977;SYMBOL=NMNAT1;CLINICAL_SIGNIFICANCE=Likely_pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_and_Research_Center;ALL_TRAITS=not_provided|Not_provided;ALL_PMIDS=25741868;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10042370 . G T . . MUT=ALT;MEASURESET_ID=37136;SYMBOL=NMNAT1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Leber_congenital_amaurosis_9|LEBER_CONGENITAL_AMAUROSIS_9;ALL_PMIDS=20301475..22842230..22842231;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10042376 . C G . . MUT=ALT;MEASURESET_ID=37139;SYMBOL=NMNAT1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Leber_congenital_amaurosis_9|LEBER_CONGENITAL_AMAUROSIS_9;ALL_PMIDS=20301475..22842231;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10042538 . C T . . MUT=ALT;MEASURESET_ID=37133;SYMBOL=NMNAT1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Leber_congenital_amaurosis_9|LEBER_CONGENITAL_AMAUROSIS_9;ALL_PMIDS=20301475..22842229..22842230;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10042629 . G T . . MUT=ALT;MEASURESET_ID=37138;SYMBOL=NMNAT1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Leber_congenital_amaurosis_9|LEBER_CONGENITAL_AMAUROSIS_9;ALL_PMIDS=20301475..22842230;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10042688 . G A . . MUT=ALT;MEASURESET_ID=37134;SYMBOL=NMNAT1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM|GeneReviews;ALL_TRAITS=Leber_congenital_amaurosis_9|LEBER_CONGENITAL_AMAUROSIS_9|Leber_Congenital_Amaurosis;ALL_PMIDS=20301475..22842227..22842229..22842230..22842231;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10042736 . A G . . MUT=ALT;MEASURESET_ID=37135;SYMBOL=NMNAT1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Leber_congenital_amaurosis_9|LEBER_CONGENITAL_AMAUROSIS_9;ALL_PMIDS=20301475..22842230..22842231;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10042757 . T C . . MUT=ALT;MEASURESET_ID=37132;SYMBOL=NMNAT1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Leber_congenital_amaurosis_9|LEBER_CONGENITAL_AMAUROSIS_9;ALL_PMIDS=12734549..20301475..22842230;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10292471 . C G . . MUT=ALT;MEASURESET_ID=216686;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2|Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10318543 . CTT C . . MUT=ALT;MEASURESET_ID=218712;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia|Invitae;ALL_TRAITS=not_specified|Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline|unknown;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10318553 . C T . . MUT=ALT;MEASURESET_ID=240955;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10318652 . C G . . MUT=ALT;MEASURESET_ID=129399;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|AllHighlyPenetrant|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10318660 . A T . . MUT=ALT;MEASURESET_ID=4658;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews|OMIM;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2A1|Charcot-Marie-Tooth_disease|CHARCOT-MARIE-TOOTH_DISEASE..AXONAL..TYPE_2A1_(1_family);ALL_PMIDS=20301684..11389829..20301462..9409358..20301532;AGE_OF_ONSET=Childhood;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10327623 . T TA . . MUT=ALT;MEASURESET_ID=220468;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10335502 . A G . . MUT=ALT;MEASURESET_ID=157531;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Likely_pathogenic|Uncertain_significance;REVIEW_STATUS=criteria_provided..conflicting_interpretations;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital|Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2|axonal_type|Charcot-Marie-Tooth_disease;ALL_PMIDS=20301532..20301462..373698346..0..2..25025039;ORIGIN=germline|tested-inconclusive;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10352129 . A T . . MUT=ALT;MEASURESET_ID=240953;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10355727 . A G . . MUT=ALT;MEASURESET_ID=240954;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10355834 . C T . . MUT=ALT;MEASURESET_ID=177960;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10356717 . C T . . MUT=ALT;MEASURESET_ID=216685;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2|Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10357094 . G A . . MUT=ALT;MEASURESET_ID=194969;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10357206 . A AT . . MUT=ALT;MEASURESET_ID=195512;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10357206 . ATT A . . MUT=ALT;MEASURESET_ID=195513;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10357264 . A T . . MUT=ALT;MEASURESET_ID=4659;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=risk_factor;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Neuroblastoma_1|NEUROBLASTOMA..SUSCEPTIBILITY_TO..1;ALL_PMIDS=18334619;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10363517 . G T . . MUT=ALT;MEASURESET_ID=155755;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Likely_pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Northcott_Neuroscience_Laboratory..ANZAC_Research_Institute;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10363664 . G T . . MUT=ALT;MEASURESET_ID=218862;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10381802 . T C . . MUT=ALT;MEASURESET_ID=240956;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10381867 . C T . . MUT=ALT;MEASURESET_ID=215879;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2|Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10381887 . A G . . MUT=ALT;MEASURESET_ID=240957;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10384871 . A C . . MUT=ALT;MEASURESET_ID=215880;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10384882 . C T . . MUT=ALT;MEASURESET_ID=215881;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2|Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10384896 . C T . . MUT=ALT;MEASURESET_ID=4660;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Uncertain_significance|risk_factor;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=OMIM|Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2|NEUROBLASTOMA..SUSCEPTIBILITY_TO..1|Neuroblastoma_1;ALL_PMIDS=20301462..18334619..20301532..24469107;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10397576 . T C . . MUT=ALT;MEASURESET_ID=155749;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Northcott_Neuroscience_Laboratory..ANZAC_Research_Institute;ALL_TRAITS=not_provided|not_provided;ORIGIN=not_provided;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10403292 . C T . . MUT=ALT;MEASURESET_ID=215882;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Invitae|Vantari_Genetics;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2|Hereditary_cancer-predisposing_syndrome;ALL_PMIDS=20301462..20301532..25394175..25741868;INHERITANCE_MODES=Autosomal_dominant_inheritance;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10403302 . G A . . MUT=ALT;MEASURESET_ID=196788;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University|Invitae;ALL_TRAITS=not_specified|Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10406001 . C T . . MUT=ALT;MEASURESET_ID=4661;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=risk_factor;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Neuroblastoma_1|NEUROBLASTOMA..SUSCEPTIBILITY_TO..1;ALL_PMIDS=18334619;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10408767 . A G . . MUT=ALT;MEASURESET_ID=196959;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10412800 . A G . . MUT=ALT;MEASURESET_ID=240958;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10421790 . T C . . MUT=ALT;MEASURESET_ID=155750;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Likely_pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Northcott_Neuroscience_Laboratory..ANZAC_Research_Institute;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10421878 . A G . . MUT=ALT;MEASURESET_ID=129400;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|AllHighlyPenetrant;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10425534 . G A . . MUT=ALT;MEASURESET_ID=4662;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Pathogenic|risk_factor;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Pheochromocytoma|Neuroblastoma_1|PHEOCHROMOCYTOMA;ALL_PMIDS=20301715..24493721..18726616..24319509..24893135..18334619;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Childhood;PREVALENCE=1-9_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10425550 . C T . . MUT=ALT;MEASURESET_ID=215516;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10428570 . G A . . MUT=ALT;MEASURESET_ID=240959;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10434404 . T C . . MUT=ALT;MEASURESET_ID=215883;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10434447 . G A . . MUT=ALT;MEASURESET_ID=219797;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10435065 . A G . . MUT=ALT;MEASURESET_ID=220407;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10435324 . C A . . MUT=ALT;MEASURESET_ID=129401;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign|Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|AllHighlyPenetrant|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10436626 . C T . . MUT=ALT;MEASURESET_ID=240960;SYMBOL=KIF1B;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2;ALL_PMIDS=20301462..20301532;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10535044 . A C . . MUT=ALT;MEASURESET_ID=95142;SYMBOL=PEX14;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10659392 . C G . . MUT=ALT;MEASURESET_ID=95143;SYMBOL=PEX14;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10678439 . G T . . MUT=ALT;MEASURESET_ID=197764;SYMBOL=PEX14;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10678450 . A G . . MUT=ALT;MEASURESET_ID=95144;SYMBOL=PEX14;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10678488 . A T . . MUT=ALT;MEASURESET_ID=95145;SYMBOL=PEX14;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10683165 . C A . . MUT=ALT;MEASURESET_ID=95146;SYMBOL=PEX14;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=23757202;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10684462 . C T . . MUT=ALT;MEASURESET_ID=7701;SYMBOL=PEX14;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_13A|PEROXISOME_BIOGENESIS_DISORDER_13A_(ZELLWEGER);ALL_PMIDS=15146459;AGE_OF_ONSET=Neonatal;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 10684484 . C G . . MUT=ALT;MEASURESET_ID=198515;SYMBOL=PEX14;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10689734 . C T . . MUT=ALT;MEASURESET_ID=167451;SYMBOL=PEX14;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10689923 . A G . . MUT=ALT;MEASURESET_ID=167452;SYMBOL=PEX14;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10689923 . AC GT . . MUT=ALT;MEASURESET_ID=199100;SYMBOL=PEX14;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 10689924 . C T . . MUT=ALT;MEASURESET_ID=167453;SYMBOL=PEX14;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 10689942 . G T . . MUT=ALT;MEASURESET_ID=167454;SYMBOL=PEX14;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 11078893 . A G . . MUT=ALT;MEASURESET_ID=5233;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic|Uncertain_significance;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM|GeneReviews;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|AMYOTROPHIC_LATERAL_SCLEROSIS_10_WITHOUT_FRONTOTEMPORAL_DEMENTIA_AND_WITH_TDP43_INCLUSIONS|Amyotrophic_lateral_sclerosis_type_10;ALL_PMIDS=18372902..20301623..20301761;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11082253 . A G . . MUT=ALT;MEASURESET_ID=5238;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=FRONTOTEMPORAL_DEMENTIA_WITH_TDP43_INCLUSIONS..TARDBP-RELATED|FRONTOTEMPORAL_DEMENTIA_WITH_TDP43_INCLUSIONS..TARDBP-RELATED;ALL_PMIDS=19609911;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11082335 . G C . . MUT=ALT;MEASURESET_ID=5231;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|AMYOTROPHIC_LATERAL_SCLEROSIS_10_WITHOUT_FRONTOTEMPORAL_DEMENTIA_AND_WITH_TDP43_INCLUSIONS;ALL_PMIDS=18396105..20301623..20301761;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11082347 . G C . . MUT=ALT;MEASURESET_ID=5230;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|AMYOTROPHIC_LATERAL_SCLEROSIS_10_WITHOUT_FRONTOTEMPORAL_DEMENTIA_AND_WITH_TDP43_INCLUSIONS;ALL_PMIDS=18309045..19695877..20301623..20301761;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11082347 . G T . . MUT=ALT;MEASURESET_ID=21484;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|TARDBP-Related_Amyotrophic_Lateral_Sclerosis;ALL_PMIDS=20301623..20301761;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=not_provided;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11082349 . G A . . MUT=ALT;MEASURESET_ID=21485;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM|GeneReviews;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|AMYOTROPHIC_LATERAL_SCLEROSIS_10_WITH_OR_WITHOUT_FRONTOTEMPORAL_DEMENTIA_AND_WITH_TDP43_INCLUSIONS|Amyotrophic_lateral_sclerosis_type_10;ALL_PMIDS=19350673..20301623..20301761;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11082358 . G A . . MUT=ALT;MEASURESET_ID=5232;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM|GeneReviews;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|AMYOTROPHIC_LATERAL_SCLEROSIS_10_WITHOUT_FRONTOTEMPORAL_DEMENTIA_AND_WITH_TDP43_INCLUSIONS|Amyotrophic_lateral_sclerosis_type_10;ALL_PMIDS=18396105..20301623..20301761;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11082409 . G A . . MUT=ALT;MEASURESET_ID=5236;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM|GeneReviews;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|AMYOTROPHIC_LATERAL_SCLEROSIS_10_WITHOUT_FRONTOTEMPORAL_DEMENTIA_AND_WITH_TDP43_INCLUSIONS|Amyotrophic_lateral_sclerosis_type_10;ALL_PMIDS=18288693..20301623..20301761;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11082457 . C A . . MUT=ALT;MEASURESET_ID=5229;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|AMYOTROPHIC_LATERAL_SCLEROSIS_10_WITHOUT_FRONTOTEMPORAL_DEMENTIA_AND_WITH_TDP43_INCLUSIONS;ALL_PMIDS=18309045..20301623..20301761;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11082475 . A G . . MUT=ALT;MEASURESET_ID=5228;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM|GeneReviews;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|AMYOTROPHIC_LATERAL_SCLEROSIS_10_WITHOUT_FRONTOTEMPORAL_DEMENTIA_AND_WITH_TDP43_INCLUSIONS|Amyotrophic_lateral_sclerosis_type_10;ALL_PMIDS=18309045..20301623..20301761;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11082494 . A G . . MUT=ALT;MEASURESET_ID=5235;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|AMYOTROPHIC_LATERAL_SCLEROSIS_10_WITHOUT_FRONTOTEMPORAL_DEMENTIA_AND_WITH_TDP43_INCLUSIONS;ALL_PMIDS=18438952..20301623..20301761;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11082508 . G T . . MUT=ALT;MEASURESET_ID=5234;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM|GeneReviews;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|AMYOTROPHIC_LATERAL_SCLEROSIS_10_WITHOUT_FRONTOTEMPORAL_DEMENTIA_AND_WITH_TDP43_INCLUSIONS|Amyotrophic_lateral_sclerosis_type_10;ALL_PMIDS=18372902..18779421..20301623..20301761;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11082610 . G A . . MUT=ALT;MEASURESET_ID=21474;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews|OMIM;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|FRONTOTEMPORAL_DEMENTIA_WITH_TDP43_INCLUSIONS..TARDBP-RELATED|AMYOTROPHIC_LATERAL_SCLEROSIS_10_WITH_OR_WITHOUT_FRONTOTEMPORAL_DEMENTIA_AND_WITH_TDP43_INCLUSIONS;ALL_PMIDS=21220647..24300238..19224587..20301761..20301623..20697052;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11082616 . G C . . MUT=ALT;MEASURESET_ID=190399;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|Amyotrophic_lateral_sclerosis_type_10;ALL_PMIDS=20301623..20301761;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11082619 . T G . . MUT=ALT;MEASURESET_ID=190400;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|Amyotrophic_lateral_sclerosis_type_10;ALL_PMIDS=20301623..20301761;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11082794 . T C . . MUT=ALT;MEASURESET_ID=21465;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=GeneReviews;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|TARDBP-Related_Amyotrophic_Lateral_Sclerosis;ALL_PMIDS=20301623..20301761;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=not_provided;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11083408 . G A . . MUT=ALT;MEASURESET_ID=5239;SYMBOL=TARDBP;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_10|FRONTOTEMPORAL_DEMENTIA_WITH_TDP43_INCLUSIONS..TARDBP-RELATED|AMYOTROPHIC_LATERAL_SCLEROSIS_10_WITH_OR_WITHOUT_FRONTOTEMPORAL_DEMENTIA_AND_WITH_TDP43_INCLUSIONS;ALL_PMIDS=20301761..20301623..19618195;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11106666 . T C . . MUT=ALT;MEASURESET_ID=5210;SYMBOL=MASP2;CLINICAL_SIGNIFICANCE=Benign|Pathogenic;REVIEW_STATUS=criteria_provided..conflicting_interpretations;ALL_SUBMITTERS=OMIM|Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|MASP2_deficiency|MASP2_DEFICIENCY;ALL_PMIDS=19307021..12904520..17252003..24658431;ORIGIN=germline|unknown;PATHOGENIC=1;CONFLICTED=1;BENIGN=1
1 11172910 . G A . . MUT=ALT;MEASURESET_ID=240081;SYMBOL=MTOR;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11174420 . C T . . MUT=ALT;MEASURESET_ID=156709;SYMBOL=MTOR;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=James_Howe_Lab..University_of_Iowa_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ORIGIN=not_provided;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11177096 . C T . . MUT=ALT;MEASURESET_ID=242349;SYMBOL=MTOR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=HudsonAlpha_Institute_for_Biotechnology;ALL_TRAITS=Smith-Kingsmore_syndrome;ORIGIN=de_novo;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11184573 . G A . . MUT=ALT;MEASURESET_ID=156703;SYMBOL=MTOR;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=James_Howe_Lab..University_of_Iowa_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ORIGIN=not_provided;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11188164 . G T . . MUT=ALT;MEASURESET_ID=156702;SYMBOL=MTOR;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=James_Howe_Lab..University_of_Iowa_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ORIGIN=not_provided;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11189846 . A C . . MUT=ALT;MEASURESET_ID=224083;SYMBOL=MTOR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=HudsonAlpha_Institute_for_Biotechnology;ALL_TRAITS=Smith-Kingsmore_syndrome|Intellectual_disability..moderate|Seizures|Facial_dysmorphism;ORIGIN=de_novo;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11190804 . C T . . MUT=ALT;MEASURESET_ID=217823;SYMBOL=MTOR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Smith-Kingsmore_syndrome|SMITH-KINGSMORE_SYNDROME;ALL_PMIDS=25851998;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11194399 . GG AC . . MUT=ALT;MEASURESET_ID=240080;SYMBOL=MTOR;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 11199365 . C T . . MUT=ALT;MEASURESET_ID=156701;SYMBOL=MTOR;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=James_Howe_Lab..University_of_Iowa_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ORIGIN=not_provided;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11204792 . C T . . MUT=ALT;MEASURESET_ID=224088;SYMBOL=-;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=HudsonAlpha_Institute_for_Biotechnology;ALL_TRAITS=Smith-Kingsmore_syndrome|Autism_spectrum_disorder|Hypotonia|Intellectual_disability..moderate|Seizures;ORIGIN=de_novo;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11217230 . C A . . MUT=ALT;MEASURESET_ID=190121;SYMBOL=MTOR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=OMIM|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=Smith-Kingsmore_syndrome|not_provided|SMITH-KINGSMORE_SYNDROME;ALL_PMIDS=25741868;ORIGIN=de_novo|germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11227568 . A G . . MUT=ALT;MEASURESET_ID=240079;SYMBOL=MTOR;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 11273599 . T C . . MUT=ALT;MEASURESET_ID=240078;SYMBOL=MTOR;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11288870 . T C . . MUT=ALT;MEASURESET_ID=252640;SYMBOL=MTOR;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11313905 . C A . . MUT=ALT;MEASURESET_ID=240082;SYMBOL=MTOR;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 11316251 . T C . . MUT=ALT;MEASURESET_ID=224150;SYMBOL=MTOR;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=HudsonAlpha_Institute_for_Biotechnology;ALL_TRAITS=Smith-Kingsmore_syndrome|Facial_dysmorphism|Hypotonia|Intellectual_disability..severe|Autsim_spectrum_disorder|Speech_delay;ORIGIN=unknown;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11333893 . A G . . MUT=ALT;MEASURESET_ID=856;SYMBOL=UBIAD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Schnyder_crystalline_corneal_dystrophy|CORNEAL_DYSTROPHY..SCHNYDER;ALL_PMIDS=15034782..17668063..17962451..18176953..23169578..3486394..9450854;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11333923 . A G . . MUT=ALT;MEASURESET_ID=861;SYMBOL=UBIAD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Schnyder_crystalline_corneal_dystrophy|CORNEAL_DYSTROPHY..SCHNYDER;ALL_PMIDS=17668063;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11333943 . A G . . MUT=ALT;MEASURESET_ID=858;SYMBOL=UBIAD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Schnyder_crystalline_corneal_dystrophy|CORNEAL_DYSTROPHY..SCHNYDER;ALL_PMIDS=17668063;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11334099 . T C . . MUT=ALT;MEASURESET_ID=862;SYMBOL=UBIAD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Schnyder_crystalline_corneal_dystrophy|CORNEAL_DYSTROPHY..SCHNYDER;ALL_PMIDS=18176953..3486394;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11334112 . C T . . MUT=ALT;MEASURESET_ID=859;SYMBOL=UBIAD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Schnyder_crystalline_corneal_dystrophy|CORNEAL_DYSTROPHY..SCHNYDER;ALL_PMIDS=15034782..17668063..18176953;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11334117 . G C . . MUT=ALT;MEASURESET_ID=857;SYMBOL=UBIAD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Schnyder_crystalline_corneal_dystrophy|CORNEAL_DYSTROPHY..SCHNYDER;ALL_PMIDS=17962451..18176953..23169578;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11345701 . G A . . MUT=ALT;MEASURESET_ID=41408;SYMBOL=UBIAD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Schnyder_crystalline_corneal_dystrophy|CORNEAL_DYSTROPHY..SCHNYDER;ALL_PMIDS=23169578;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11345727 . G A . . MUT=ALT;MEASURESET_ID=863;SYMBOL=UBIAD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Schnyder_crystalline_corneal_dystrophy|CORNEAL_DYSTROPHY..SCHNYDER;ALL_PMIDS=15034782..18176953;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11345866 . A G . . MUT=ALT;MEASURESET_ID=860;SYMBOL=UBIAD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Schnyder_crystalline_corneal_dystrophy|CORNEAL_DYSTROPHY..SCHNYDER;ALL_PMIDS=17668063..8190477;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11345879 . C G . . MUT=ALT;MEASURESET_ID=864;SYMBOL=UBIAD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Schnyder_crystalline_corneal_dystrophy|CORNEAL_DYSTROPHY..SCHNYDER;ALL_PMIDS=18176953;AGE_OF_ONSET=All_ages;PREVALENCE=<1_/_1_000_000;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11850730 . C T . . MUT=ALT;MEASURESET_ID=194070;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11850739 . A G . . MUT=ALT;MEASURESET_ID=187906;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11850825 . A G . . MUT=ALT;MEASURESET_ID=187905;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11850900 . G C . . MUT=ALT;MEASURESET_ID=187904;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11850910 . CA AC . . MUT=ALT;MEASURESET_ID=187903;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11850915 . A G . . MUT=ALT;MEASURESET_ID=187902;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11850927 . C T . . MUT=ALT;MEASURESET_ID=194071;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11851263 . C A . . MUT=ALT;MEASURESET_ID=187900;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11851273 . C T . . MUT=ALT;MEASURESET_ID=3527;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|HOMOCYSTEINURIA_DUE_TO_MTHFR_DEFICIENCY;ALL_PMIDS=12840091..3580562;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11851276 . GA G . . MUT=ALT;MEASURESET_ID=161642;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=Science_for_Life_laboratory..Karolinska_Institutet;ALL_TRAITS=Malignant_tumor_of_prostate|Malignant_tumor_of_prostate;ALL_PMIDS=19042984..22138009..23265383..23659877..24071797..25394175;AGE_OF_ONSET=Adult;PREVALENCE=1-9_/_100_000;ORIGIN=somatic;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11851292 . A C . . MUT=ALT;MEASURESET_ID=187899;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11851333 . C T . . MUT=ALT;MEASURESET_ID=187898;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11852333 . A C . . MUT=ALT;MEASURESET_ID=187897;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11852356 . A T . . MUT=ALT;MEASURESET_ID=208195;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=Inserm_U_954..Faculté_de_Médecine_de_Nancy;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;AGE_OF_ONSET=Infancy;ORIGIN=not_provided;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11852361 . C A . . MUT=ALT;MEASURESET_ID=187896;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11852361 . C T . . MUT=ALT;MEASURESET_ID=208194;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=Inserm_U_954..Faculté_de_Médecine_de_Nancy;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;AGE_OF_ONSET=Infancy;ORIGIN=not_provided;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11852411 . C A . . MUT=ALT;MEASURESET_ID=193686;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=18523009;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11853962 . A G . . MUT=ALT;MEASURESET_ID=187895;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11853978 . A C . . MUT=ALT;MEASURESET_ID=187894;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11853979 . G A . . MUT=ALT;MEASURESET_ID=199116;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11854102 . G A . . MUT=ALT;MEASURESET_ID=199115;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11854442 . C T . . MUT=ALT;MEASURESET_ID=187893;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11854457 . G A . . MUT=ALT;MEASURESET_ID=167306;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 11854476 . T G . . MUT=ALT;MEASURESET_ID=3521;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=drug_response;REVIEW_STATUS=reviewed_by_expert_panel;ALL_SUBMITTERS=OMIM|Department_of_Pharmacy_and_Biotechnology..University_of_Bologna|PharmGKB|Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=fluorouracil..leucovorin..and_oxaliplatin_response_-_Efficacy|not_provided|Schizophrenia..susceptibility_to|Gastrointestinal_Stromal_Tumors|Colorectal_Neoplasms|MTHFR_THERMOLABILE_POLYMORPHISM|MTHFR_deficiency..thermolabile_type|Gastrointestinal_stromal_tumor;ALL_PMIDS=18583979..22685257..25227144..20078613..9545395..22992668..15951337..25394175..20385995..12560871..16244782..23852704..15103709..11752418..11742092..11590551..10958762..11938441..17898028..10677336;INHERITANCE_MODES=Autosomal_unknown|Autosomal_dominant_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11854500 . C G . . MUT=ALT;MEASURESET_ID=187892;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11854596 . CT C . . MUT=ALT;MEASURESET_ID=187891;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11854823 . G A . . MUT=ALT;MEASURESET_ID=3528;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Homocystinuria_due_to_MTHFR_deficiency|HOMOCYSTINURIA_DUE_TO_MTHFR_DEFICIENCY;ALL_PMIDS=17409006..8940272;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11854838 . T C . . MUT=ALT;MEASURESET_ID=187890;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11854864 . C T . . MUT=ALT;MEASURESET_ID=187889;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11854888 . G A . . MUT=ALT;MEASURESET_ID=198534;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11854892 . G A . . MUT=ALT;MEASURESET_ID=187888;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11854910 . G A . . MUT=ALT;MEASURESET_ID=187887;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11854918 . C T . . MUT=ALT;MEASURESET_ID=198535;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11855171 . A C . . MUT=ALT;MEASURESET_ID=3523;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Homocystinuria_due_to_MTHFR_deficiency|HOMOCYSTINURIA_DUE_TO_MTHFR_DEFICIENCY;ALL_PMIDS=9781030;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11855182 . C T . . MUT=ALT;MEASURESET_ID=187886;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11855215 . T C . . MUT=ALT;MEASURESET_ID=3522;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Homocystinuria_due_to_MTHFR_deficiency|HOMOCYSTINURIA_DUE_TO_MTHFR_DEFICIENCY;ALL_PMIDS=12673793..3347350..6381059..9781030;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11855218 . A G . . MUT=ALT;MEASURESET_ID=3529;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Homocystinuria_due_to_MTHFR_deficiency|HOMOCYSTINURIA_DUE_TO_MTHFR_DEFICIENCY;ALL_PMIDS=8940272;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11856262 . C A . . MUT=ALT;MEASURESET_ID=187885;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11856274 . A C . . MUT=ALT;MEASURESET_ID=187884;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11856276 . A T . . MUT=ALT;MEASURESET_ID=187883;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11856279 . C A . . MUT=ALT;MEASURESET_ID=187882;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11856283 . G A . . MUT=ALT;MEASURESET_ID=187881;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11856363 . GTGA G . . MUT=ALT;MEASURESET_ID=187880;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11856370 . T G . . MUT=ALT;MEASURESET_ID=187879;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11856378 . G A . . MUT=ALT;MEASURESET_ID=3520;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=drug_response;REVIEW_STATUS=reviewed_by_expert_panel;ALL_SUBMITTERS=OMIM|Department_of_Pharmacy_and_Biotechnology..University_of_Bologna|PharmGKB|Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=carboplatin_response_-_Efficacy|cyclophosphamide_response_-_Toxicity/ADR|not_provided|Gastrointestinal_Stromal_Tumors|Carcinoma..Non-Small-Cell_Lung|MTHFR_deficiency..thermolabile_type|Gastrointestinal_stromal_tumor|MTHFR_THERMOLABILE_POLYMORPHISM;ALL_PMIDS=10930360..10323741..15729744..12384649..15806605..8542260..12529699..12400059..20154341..8554053..9372726..20638924..17350979..25227144..12428084..15704130..17436239..16365871..12383688..16800002..21042222..9843036..11781870..16712703..12165282..19159907..12796225..10869114..22992668..10190487..8981967..15808177..12406076..12095808..15054400..11807890..9133512..16172608..8903338..7741859..15543147..17284634..15154859..11929966..11121176..9798595..17543893..9737770..18583979..15173232..15565101..25394175..9453374..15051775..10732818..8837319..9341863..22685257..8616944..1522835..16470725..16402130..11140843..19307503..10196703..17726486..12356947..12221667..11863127..21605004..9244205..12154064..9789068..7564788..8554066..9192280..9545406..12080391..8826441..10440833..15103709..7647779..11888585..9863598..15534175..23852704..12560871..12387655..8771990..8994411..12196644;INHERITANCE_MODES=Autosomal_unknown|Autosomal_dominant_inheritance;AGE_OF_ONSET=Adolescent;PREVALENCE=1-5_/_10_000;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11856397 . CCTT C . . MUT=ALT;MEASURESET_ID=187878;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11856456 . C T . . MUT=ALT;MEASURESET_ID=187877;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11860307 . C T . . MUT=ALT;MEASURESET_ID=187876;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11860308 . G A . . MUT=ALT;MEASURESET_ID=3518;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Homocystinuria_due_to_MTHFR_deficiency|HOMOCYSTINURIA_DUE_TO_MTHFR_DEFICIENCY;ALL_PMIDS=7920641;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11861223 . C T . . MUT=ALT;MEASURESET_ID=3519;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Homocystinuria_due_to_MTHFR_deficiency|HOMOCYSTINURIA_DUE_TO_MTHFR_DEFICIENCY;ALL_PMIDS=7920641;INHERITANCE_MODES=Autosomal_recessive_inheritance;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11861253 . T G . . MUT=ALT;MEASURESET_ID=187875;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11861276 . C T . . MUT=ALT;MEASURESET_ID=196429;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 11861305 . A G . . MUT=ALT;MEASURESET_ID=187874;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11861314 . G A . . MUT=ALT;MEASURESET_ID=187873;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11861356 . C T . . MUT=ALT;MEASURESET_ID=187872;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11861417 . G A . . MUT=ALT;MEASURESET_ID=196430;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 11861449 . G A . . MUT=ALT;MEASURESET_ID=187870;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11862972 . G C . . MUT=ALT;MEASURESET_ID=187869;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11862977 . G A . . MUT=ALT;MEASURESET_ID=208196;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=not_provided;REVIEW_STATUS=no_assertion_provided;ALL_SUBMITTERS=Inserm_U_954..Faculté_de_Médecine_de_Nancy;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;AGE_OF_ONSET=Infancy;ORIGIN=not_provided;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11862998 . C G . . MUT=ALT;MEASURESET_ID=187868;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11863023 . G A . . MUT=ALT;MEASURESET_ID=195255;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11863037 . C T . . MUT=ALT;MEASURESET_ID=187867;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11863038 . G A . . MUT=ALT;MEASURESET_ID=187866;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11863212 . CAG C . . MUT=ALT;MEASURESET_ID=187865;SYMBOL=MTHFR;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=University_Children's_Hospital..University_of_Zurich;ALL_TRAITS=Homocysteinemia_due_to_MTHFR_deficiency|Homocysteinemia_due_to_MTHFR_deficiency;ALL_PMIDS=25736335;AGE_OF_ONSET=Infancy;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11906064 . CTT C . . MUT=ALT;MEASURESET_ID=17788;SYMBOL=-;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Atrial_fibrillation..familial..6|ATRIAL_FIBRILLATION..FAMILIAL..6;ALL_PMIDS=18614783..19458086;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11906068 . A G . . MUT=ALT;MEASURESET_ID=226855;SYMBOL=-;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=15017020..17984371..19702001..20543198..22400494..22575314..23529183..24033266..24041948..25401746;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 11907171 . C T . . MUT=ALT;MEASURESET_ID=126846;SYMBOL=-;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Atrial_standstill_2|ATRIAL_STANDSTILL_2;ALL_PMIDS=23275345..6225642;AGE_OF_ONSET=Adult;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 11907367 . C T . . MUT=ALT;MEASURESET_ID=240293;SYMBOL=-;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Atrial_fibrillation..familial..6;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 11907368 . G A . . MUT=ALT;MEASURESET_ID=240292;SYMBOL=-;CLINICAL_SIGNIFICANCE=Likely_benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Atrial_fibrillation..familial..6;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 11907430 . T G . . MUT=ALT;MEASURESET_ID=126847;SYMBOL=-;CLINICAL_SIGNIFICANCE=Likely_benign|Pathogenic;REVIEW_STATUS=criteria_provided..conflicting_interpretations;ALL_SUBMITTERS=OMIM|Invitae;ALL_TRAITS=Atrial_fibrillation..familial..6|ATRIAL_FIBRILLATION..FAMILIAL..6;ALL_PMIDS=19646991;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=1;BENIGN=1
1 11907603 . G A . . MUT=ALT;MEASURESET_ID=36663;SYMBOL=-;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=LabCorp;ALL_TRAITS=Cardiac_arrhythmia|Arrhythmia;ALL_PMIDS=17460430;INHERITANCE_MODES=Autosomal_dominant_inheritance;ORIGIN=not_provided;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 11907664 . A T . . MUT=ALT;MEASURESET_ID=240294;SYMBOL=-;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Invitae;ALL_TRAITS=Atrial_fibrillation..familial..6;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 12009956 . G A . . MUT=ALT;MEASURESET_ID=196247;SYMBOL=PLOD1;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 12012793 . G A . . MUT=ALT;MEASURESET_ID=14371;SYMBOL=PLOD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..hydroxylysine-deficient|EHLERS-DANLOS_SYNDROME..TYPE_VI;ALL_PMIDS=15979919..20301635..9220536;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000|1:100..000_live_births.__Carrier_frequency_is_estimated_to_be_1:150.;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12018684 . C T . . MUT=ALT;MEASURESET_ID=14364;SYMBOL=PLOD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..hydroxylysine-deficient|EHLERS-DANLOS_SYNDROME..TYPE_VI;ALL_PMIDS=1345174..15666309..15979919..20301635..3931636..8533783..9152832;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000|1:100..000_live_births.__Carrier_frequency_is_estimated_to_be_1:150.;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12025599 . C G . . MUT=ALT;MEASURESET_ID=14370;SYMBOL=PLOD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..hydroxylysine-deficient|EHLERS-DANLOS_SYNDROME..TYPE_VI;ALL_PMIDS=10329027..15979919..20301635..9220536..9893157;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000|1:100..000_live_births.__Carrier_frequency_is_estimated_to_be_1:150.;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12026314 . AAGG A . . MUT=ALT;MEASURESET_ID=14367;SYMBOL=PLOD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..hydroxylysine-deficient|EHLERS-DANLOS_SYNDROME..TYPE_VI;ALL_PMIDS=1577494..15979919..2..20301635..8163671;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000|1:100..000_live_births.__Carrier_frequency_is_estimated_to_be_1:150.;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12027041 . CA C . . MUT=ALT;MEASURESET_ID=14368;SYMBOL=PLOD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..hydroxylysine-deficient|EHLERS-DANLOS_SYNDROME..TYPE_VI;ALL_PMIDS=15979919..20301635..3..9450904;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000|1:100..000_live_births.__Carrier_frequency_is_estimated_to_be_1:150.;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12030807 . G C . . MUT=ALT;MEASURESET_ID=14372;SYMBOL=PLOD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..hydroxylysine-deficient|EHLERS-DANLOS_SYNDROME..TYPE_VI;ALL_PMIDS=15979919..20301635..9617436;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000|1:100..000_live_births.__Carrier_frequency_is_estimated_to_be_1:150.;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12033034 . C T . . MUT=ALT;MEASURESET_ID=14373;SYMBOL=PLOD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..hydroxylysine-deficient|EHLERS-DANLOS_SYNDROME..TYPE_VI;ALL_PMIDS=15979919..20301635;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000|1:100..000_live_births.__Carrier_frequency_is_estimated_to_be_1:150.;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12034713 . G A . . MUT=ALT;MEASURESET_ID=14366;SYMBOL=PLOD1;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..hydroxylysine-deficient|EHLERS-DANLOS_SYNDROME..TYPE_VI;ALL_PMIDS=1577494..15979919..20301635..222849..3110540..416188..6089551;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000|1:100..000_live_births.__Carrier_frequency_is_estimated_to_be_1:150.;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12034756 . C T . . MUT=ALT;MEASURESET_ID=218321;SYMBOL=PLOD1;CLINICAL_SIGNIFICANCE=not_reported_for_simple_variant;REVIEW_STATUS=no_assertion_for_the_individual_variant;ALL_SUBMITTERS=Foundation_for_Research_in_Genetics_and_Endocrinology..Institute_of_Human_Genetics;ALL_TRAITS=Ehlers-Danlos_syndrome..hydroxylysine-deficient;ALL_PMIDS=15979919..20301635;INHERITANCE_MODES=Autosomal_recessive_inheritance;AGE_OF_ONSET=Infancy;PREVALENCE=1-9_/_100_000|1:100..000_live_births.__Carrier_frequency_is_estimated_to_be_1:150.;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 12040545 . A T . . MUT=ALT;MEASURESET_ID=245866;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 12042012 . T G . . MUT=ALT;MEASURESET_ID=138214;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 12049283 . C T . . MUT=ALT;MEASURESET_ID=214656;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 12049375 . C A . . MUT=ALT;MEASURESET_ID=138219;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 12049384 . C T . . MUT=ALT;MEASURESET_ID=214639;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 12049385 . G A . . MUT=ALT;MEASURESET_ID=214657;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 12049390 . C T . . MUT=ALT;MEASURESET_ID=138220;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 12052615 . C T . . MUT=ALT;MEASURESET_ID=246508;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Uncertain_significance;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=0
1 12052641 . G T . . MUT=ALT;MEASURESET_ID=2273;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2A2|CHARCOT-MARIE-TOOTH_DISEASE..AXONAL..TYPE_2A2;ALL_PMIDS=15064763..15136675..20301462..20301684;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12052663 . T C . . MUT=ALT;MEASURESET_ID=2270;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=OMIM|Athena_Diagnostics_Inc..Quest_Diagnostics|GeneDx;ALL_TRAITS=Not_Provided|Charcot-Marie-Tooth_disease..type_2A2|not_provided|CHARCOT-MARIE-TOOTH_DISEASE..AXONAL..TYPE_2A2;ALL_PMIDS=16714318..26467025..17296794..20301684..20301462..15064763..10732809;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12052716 . C T . . MUT=ALT;MEASURESET_ID=2276;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=OMIM|Invitae|Athena_Diagnostics_Inc..Quest_Diagnostics|GeneDx|Emory_Genetics_Laboratory..Emory_University;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2|Charcot-Marie-Tooth_disease..type_2A2|Hereditary_motor_and_sensory_neuropathy_with_optic_atrophy|not_provided|Not_Provided|CHARCOT-MARIE-TOOTH_DISEASE..AXONAL..TYPE_2A2;ALL_PMIDS=16714318..22442078..26467025..20301532..40..19889647..17296794..16437557..94..20301462..16835246..15064763..24126688..24862862..2..21285398..25025039..24957169..20301684;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12052717 . G A . . MUT=ALT;MEASURESET_ID=2268;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=OMIM|Athena_Diagnostics_Inc..Quest_Diagnostics;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2A2|CHARCOT-MARIE-TOOTH_DISEASE..AXONAL..TYPE_2A2|Charcot-Marie-Tooth_disease..type_2A2;ALL_PMIDS=15064763..18996695..19889647..20301462..20301684..20418531..21285398..26467025..9409358;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12052746 . C T . . MUT=ALT;MEASURESET_ID=2281;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital|OMIM|Baylor_Miraca_Genetics_Laboratories|GeneDx;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2A2|Hereditary_motor_and_sensory_neuropathy_with_optic_atrophy|demyelinating_type|Charcot-Marie-Tooth_disease|NEUROPATHY..HEREDITARY_MOTOR_AND_SENSORY..TYPE_VIA|not_provided|Not_Provided;ALL_PMIDS=21840889..20301532..21531138..20301462..20301684..18946002..18425620..25025039..26633545..24088041;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=de_novo|germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12052747 . G T . . MUT=ALT;MEASURESET_ID=214651;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_provided|not_provided;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12056215 . C T . . MUT=ALT;MEASURESET_ID=214652;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Athena_Diagnostics_Inc..Quest_Diagnostics|GeneDx;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2A2|not_provided;ALL_PMIDS=16043786..26467025..17296794..20301684..18316077..20301462..16835246..15064763..19812251..17959936..21508331;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12056309 . A T . . MUT=ALT;MEASURESET_ID=138210;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Benign;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;PATHOGENIC=0;CONFLICTED=0;BENIGN=1
1 12056337 . C T . . MUT=ALT;MEASURESET_ID=217163;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Likely_pathogenic;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Athena_Diagnostics_Inc..Quest_Diagnostics|GeneDx;ALL_TRAITS=Not_Provided|Charcot-Marie-Tooth_disease..type_2A2|not_provided;ALL_PMIDS=26467025..20301684..21987543..20301462;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12057358 . T G . . MUT=ALT;MEASURESET_ID=243073;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Likely_pathogenic;REVIEW_STATUS=criteria_provided..single_submitter;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2A2;ALL_PMIDS=20301462..20301684..23806086..24088041..26257172;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12057372 . C G . . MUT=ALT;MEASURESET_ID=2275;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=no_assertion_criteria_provided;ALL_SUBMITTERS=OMIM;ALL_TRAITS=Charcot-Marie-Tooth_disease..type_2A2|CHARCOT-MARIE-TOOTH_DISEASE..AXONAL..TYPE_2A2;ALL_PMIDS=12601114..16087932..20301462..20301684;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0
1 12057373 . A G . . MUT=ALT;MEASURESET_ID=217164;SYMBOL=MFN2;CLINICAL_SIGNIFICANCE=Pathogenic;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;ALL_SUBMITTERS=Athena_Diagnostics_Inc..Quest_Diagnostics|GeneDx;ALL_TRAITS=Not_Provided|Charcot-Marie-Tooth_disease..type_2A2|not_provided;ALL_PMIDS=16714318..26467025..24819634..20301684..17309650..20301462..16835246;INHERITANCE_MODES=Autosomal_dominant_inheritance;AGE_OF_ONSET=Childhood;ORIGIN=germline;PATHOGENIC=1;CONFLICTED=0;BENIGN=0