#ClinGen Region Curation Results #04 Sep,2021 #Genomic Locations are reported on GRCh38 (hg38): GCF_000001405.36 #https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen #to create link: https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_region.cgi?id=key #ISCA ID ISCA Region Name cytoBand Genomic Location Haploinsufficiency Score Haploinsufficiency Description Haploinsufficiency PMID1 Haploinsufficiency PMID2 Haploinsufficiency PMID3 Haploinsufficiency PMID4 Haploinsufficiency PMID5 Haploinsufficiency PMID6 Triplosensitivity Score Triplosensitivity Description Triplosensitivity PMID1 Triplosensitivity PMID2 Triplosensitivity PMID3 Triplosensitivity PMID4 Triplosensitivity PMID5 Triplosensitivity PMID6 Date Last Evaluated Loss phenotype OMIM ID Triplosensitive phenotype OMIM ID ISCA-46739 Yq11.223 population region (DGV_Gold_Standard_June_2021_gssvL138428) Yq11.223 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46738 Yq11.223 population region (DGV_Gold_Standard_June_2021_gssvL138419) Yq11.223 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46737 Xq27.3 population region (DGV_Gold_Standard_June_2021_gssvL137799) Xq27.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46736 Xq21.1 population region (DGV_Gold_Standard_June_2021_gssvL136501) Xq21.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46735 Xp11.23 population region (DGV_Gold_Standard_June_2021_gssvL136075) Xp11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46734 Xq28 population region (DGV_Gold_Standard_June_2021_gssvG41365) Xq28 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-03 ISCA-46733 Xq24 population region (DGV_Gold_Standard_June_2021_gssvG41158) Xq24 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-03 ISCA-46732 22q11.23 population region (DGV_Gold_Standard_June_2021_gssvG24415) 22q11.23 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-03 ISCA-46731 22q11.21 population region (DGV_Gold_Standard_June_2021_gssvL77050) 22q11.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46730 22q11.21 population region (DGV_Gold_Standard_June_2021_gssvL77049) 22q11.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46729 22q11.21 population region (DGV_Gold_Standard_June_2021_gssvL77047) 22q11.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46728 22q11.21 population region (DGV_Gold_Standard_June_2021_gssvL76981) 22q11.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46727 22q11.22 population region (DGV_Gold_Standard_June_2021_gssvL77120) 22q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46726 22q11.23 population region (DGV_Gold_Standard_June_2021_gssvL77244) 22q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46725 22q11.23 population region (DGV_Gold_Standard_June_2021_gssvL77238) 22q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46724 12p11.2 population region (DGV_Gold_Standard_June_2021_gssvG23340) 21p11.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-03 ISCA-46723 21q11.2 population region (DGV_Gold_Standard_June_2021_gssvL74506) 21q11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46722 21q22.3 population region (DGV_Gold_Standard_June_2021_gssvL75982) 21q22.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46721 21q22.3 population region (DGV_Gold_Standard_June_2021_gssvL76000) 21q22.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46720 20p11.22 population region (DGV_Gold_Standard_June_2021_gssvL71898) 20p11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46719 20q11.21 population region (DGV_Gold_Standard_June_2021_gssvL72187) 20q11.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46718 19p12 population region (DGV_Gold_Standard_June_2021_gssvL57428) 19p12 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46717 19q13.42 population region (DGV_Gold_Standard_June_2021_gssvG19479) 19q13.42 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46716 19p12 population region (DGV_Gold_Standard_June_2021_gssvL57316) 19p12 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46715 19p13.12 population region (DGV_Gold_Standard_June_2021_gssvL57062) 19p13.12 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46714 19q13.32 population region (DGV_Gold_Standard_June_2021_gssvL58890) 19q13.32 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46713 19q13.42 population region (DGV_Gold_Standard_June_2021_gssvL59370) 19q13.42 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46712 18q21.1 population region (DGV_Gold_Standard_June_2021_gssvG17872) 18q21.1 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46711 18p11.21 population region (DGV_Gold_Standard_June_2021_gssvG17388) 18p11.21 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46710 18q11.2 population region (DGV_Gold_Standard_June_2021_gssvL52661) 18q11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46709 18p11.22 population region (DGV_Gold_Standard_June_2021_gssvL52196) 18p11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46708 18p11.31 population region (DGV_Gold_Standard_June_2021_gssvL51911) 18p11.31 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46707 17q21.2 population region (DGV_Gold_Standard_June_2021_gssvG16538) 17q21.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46706 17q12 population region (DGV_Gold_Standard_June_2021_gssvG16427) 17q12 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46705 17p11.2 population region (DGV_Gold_Standard_June_2021_gssvG16095) 17p11.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46704 17p11.2 population region (DGV_Gold_Standard_June_2021_gssvG16067) 17p11.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46703 17p11.2 population region (DGV_Gold_Standard_June_2021_gssvG16017) 17p11.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46702 17p11.2 population region (DGV_Gold_Standard_June_2021_gssvG16012) 17p11.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46701 17p11.2 population region (DGV_Gold_Standard_June_2021_gssvL48488) 17p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46700 17p11.2 population region (DGV_Gold_Standard_June_2021_gssvL48476) 17p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46699 17p11.2 population region (DGV_Gold_Standard_June_2021_gssvL48375) 17p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46698 17q12 population region (DGV_Gold_Standard_June_2021_gssvL49126) 17q12 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46697 17q21.2 population region (DGV_Gold_Standard_June_2021_gssvL49379) 17q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46696 17q21.2 population region (DGV_Gold_Standard_June_2021_gssvL49386) 17q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46695 17q21.2 population region (DGV_Gold_Standard_June_2021_gssvL49384) 17q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46694 17q21.2 population region (DGV_Gold_Standard_June_2021_gssvL49383) 17q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46693 16q23.1 population region (DGV_Gold_Standard_June_2021_gssvG15270) 16q23.1 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46692 16q22.2 population region (DGV_Gold_Standard_June_2021_gssvG15245) 16q22.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46691 16p12.2 population region (DGV_Gold_Standard_June_2021_gssvG14372) 16p12.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46690 16p13.3 population region (DGV_Gold_Standard_June_2021_gssvL41949) 16p13.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46689 16p12.1 population region (DGV_Gold_Standard_June_2021_gssvL43366) 16p12.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46688 15q11.2 population region (DGV_Gold_Standard_June_2021_gssvG12359) 15q11.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46687 15q13.2 population region (DGV_Gold_Standard_June_2021_gssvG12633) 15q13.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46686 15q11.2 population region (DGV_Gold_Standard_June_2021_gssvG12224) 15q11.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46685 14q32.33 population region (DGV_Gold_Standard_June_2021_gssvG12150) 14q32.33 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46684 14q32.33 population region (DGV_Gold_Standard_June_2021_gssvG12133) 14q32.33 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46683 14q32.33 population region (DGV_Gold_Standard_June_2021_gssvG12117) 14q32.33 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46682 14q32.33 population region (DGV_Gold_Standard_June_2021_gssvG12097) 14q32.33 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46681 14q11.2 population region (DGV_Gold_Standard_June_2021_gssvG10899) 14q11.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46680 14q11.2 population region (DGV_Gold_Standard_June_2021_gssvG10827) 14q11.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46679 14q11.2 population region (DGV_Gold_Standard_June_2021_gssvG10817) 14q11.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46678 14q11.2 population region (DGV_Gold_Standard_June_2021_gssvL33520) 14q11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46677 14q11.2 population region (DGV_Gold_Standard_June_2021_gssvL33589) 14q11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46676 14q13.2 population region (DGV_Gold_Standard_June_2021_gssvL34350) 14q13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46675 14q11.2 population region (DGV_Gold_Standard_June_2021_gssvG10810) 14q11.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46674 14q32.33 population region (DGV_Gold_Standard_June_2021_gssvL37239) 14q32.33 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46673 14q32.33 population region (DGV_Gold_Standard_June_2021_gssvL37313) 14q32.33 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46672 13q12.11 population region (DGV_Gold_Standard_June_2021_gssvG9718) 13q12.11 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46671 13q21.33 population region (DGV_Gold_Standard_June_2021_gssvL31119) 13q21.33 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46670 13q21.1 population region (DGV_Gold_Standard_June_2021_gssvL30434) 13q21.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46669 12p13.31 population region (DGV_Gold_Standard_June_2021_gssvG7850) 12p13.31 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46668 12p13.31 population region (DGV_Gold_Standard_June_2021_gssvG7792) 12p13.31 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46667 12p13.2 population region (DGV_Gold_Standard_June_2021_gssvL23179) 12p13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46666 12q23.3 population region (DGV_Gold_Standard_June_2021_gssvL26928) 12q23.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46665 12p11.1 population region (DGV_Gold_Standard_June_2021_gssvL24290) 12p11.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46664 12p11.23 population region (DGV_Gold_Standard_June_2021_gssvL23860) 12p11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46663 12p13.2 population region (DGV_Gold_Standard_June_2021_gssvL23231) 12p13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46662 12p13.2 population region (DGV_Gold_Standard_June_2021_gssvL23228) 12p13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46661 12p13.2 population region (DGV_Gold_Standard_June_2021_gssvL23223) 12p13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46660 11q12.2 population region (DGV_Gold_Standard_June_2021_gssvG6800) 11q12.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46659 11p14.1 population region (DGV_Gold_Standard_June_2021_gssvG6305) 11p14.1 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46658 11p15.1 population region (DGV_Gold_Standard_June_2021_gssvG6192) 11p15.1 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46657 11p15.4 population region (DGV_Gold_Standard_June_2021_gssvG5957) 11p15.4 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46656 11p15.4 population region (DGV_Gold_Standard_June_2021_gssvG5919) 11p15.4 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46655 11p15.4 population region (DGV_Gold_Standard_June_2021_gssvL16784) 11p15.4 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46654 11p15.4 population region (DGV_Gold_Standard_June_2021_gssvL16737) 11p15.4 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46653 11p15.4 population region (DGV_Gold_Standard_June_2021_gssvL16732) 11p15.4 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46652 11p15.5 population region (DGV_Gold_Standard_June_2021_gssvL16511) 11p15.5 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46651 11p15.1 population region (DGV_Gold_Standard_June_2021_gssvL17400) 11p15.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46650 11p15.4 population region (DGV_Gold_Standard_June_2021_gssvL16961) 11p15.4 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46649 11p15.4 population region (DGV_Gold_Standard_June_2021_gssvL16881) 11p15.4 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46648 11q22.2 population region (DGV_Gold_Standard_June_2021_gssvL21098) 11q22.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46647 11q13.4 population region (DGV_Gold_Standard_June_2021_gssvL19865) 11q13.4 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46646 11q11 population region (DGV_Gold_Standard_June_2021_gssvL19045) 11q11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46645 11q11 population region (DGV_Gold_Standard_June_2021_gssvL19042) 11q11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46644 10q22.1 population region (DGV_Gold_Standard_June_2021_gssvL13249) 10q22.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46643 10q22.1 population region (DGV_Gold_Standard_June_2021_gssvL13247) 10q22.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46642 10q11.22 population region (DGV_Gold_Standard_June_2021_gssvL12112) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46641 10q11.23 population region (DGV_Gold_Standard_June_2021_gssvL12109) 10q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46640 10q11.22 population region (DGV_Gold_Standard_June_2021_gssvL12105) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46639 10q11.22 population region (DGV_Gold_Standard_June_2021_gssvG4512) 10q11.22 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46638 10p12.1 population region (DGV_Gold_Standard_June_2021_gssvL11273) 10p12.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46637 10p13 population region (DGV_Gold_Standard_June_2021_gssvL10668) 10p13 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46636 9q32 population region (DGV_Gold_Standard_June_2021_gssvG40321) 9q32 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46635 9p11.2 population region (DGV_Gold_Standard_June_2021_gssvG38779) 9p11.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46634 9p12 population region (DGV_Gold_Standard_June_2021_gssvL130637) 9p12 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46633 9p12 population region (DGV_Gold_Standard_June_2021_gssvL130619) 9p12 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46632 9q31.1 population region (DGV_Gold_Standard_June_2021_gssvL132495) 9q31.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46631 8p23.1 population region (DGV_Gold_Standard_June_2021_gssvG36644) 8p23.1 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46630 8p23.1 population region (DGV_Gold_Standard_June_2021_gssvG36608) 8p23.1 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46629 8p23.1 population region (DGV_Gold_Standard_June_2021_gssvG36607) 8p23.1 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46628 7q36.1 population region (DGV_Gold_Standard_June_2021_gssvL119849) 7q36.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46627 7q35 population region (DGV_Gold_Standard_June_2021_gssvL119429) 7q35 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46626 7q35 population region (DGV_Gold_Standard_June_2021_gssvG35898) 7q35 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46625 7q22.1 population region (DGV_Gold_Standard_June_2021_gssvL117874) 7q22.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46624 7q34 population region (DGV_Gold_Standard_June_2021_gssvL119381) 7q34 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46623 7q34 population region (DGV_Gold_Standard_June_2021_gssvL119380) 7q34 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46622 7q34 population region (DGV_Gold_Standard_June_2021_gssvL119369) 7q34 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46621 7q34 population region (DGV_Gold_Standard_June_2021_gssvL119360) 7q34 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46620 7q11.23 population region (DGV_Gold_Standard_June_2021_gssvL116711) 7q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46619 7q11.21 population region (DGV_Gold_Standard_June_2021_gssvL116036) 7q11.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46618 7q11.21 population region (DGV_Gold_Standard_June_2021_gssvL115987) 7q11.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46617 7p11.2 population region (DGV_Gold_Standard_June_2021_gssvL115697) 7p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46616 7p14.1 population region (DGV_Gold_Standard_June_2021_gssvL115094) 7p14.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46615 7p22.1 population region (DGV_Gold_Standard_June_2021_gssvL113541) 7p22.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46614 6q13 population region (DGV_Gold_Standard_June_2021_gssvG32691) 6q13 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46613 6q13 population region (DGV_Gold_Standard_June_2021_gssvG32688) 6q13 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46612 6p25.3 population region (DGV_Gold_Standard_June_2021_gssvL104460) 6p25.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46611 6p21.32 population region (DGV_Gold_Standard_June_2021_gssvL106271) 6p21.32 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46610 6p21.32 population region (DGV_Gold_Standard_June_2021_gssvL106269) 6p21.32 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46609 6p21.32 population region (DGV_Gold_Standard_June_2021_gssvL106264) 6p21.32 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46608 6p22.1 population region (DGV_Gold_Standard_June_2021_gssvL105927) 6p22.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46607 6p22.1 population region (DGV_Gold_Standard_June_2021_gssvL105924) 6p22.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46605 5q13.2 population region (DGV_Gold_Standard_June_2021_gssvG30124) 5q13.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46604 5p15.33 population region (DGV_Gold_Standard_June_2021_gssvG29169) 5p15.33 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46602 5q22.1 population region (DGV_Gold_Standard_June_2021_gssvL101506) 5q22.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46601 5q35.3 population region (DGV_Gold_Standard_June_2021_gssvL104429) 5q35.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46600 5q35.3 population region (DGV_Gold_Standard_June_2021_gssvL104164) 5q35.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46599 5q31.3 population region (DGV_Gold_Standard_June_2021_gssvL102648) 5q31.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46598 4p11 population region (DGV_Gold_Standard_June_2021_gssvG27527) 4p11 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-06 ISCA-46597 4p16.1 population region (DGV_Gold_Standard_June_2021_gssvG27165) 4p16.1 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-06 ISCA-46596 4p16.1 population region (DGV_Gold_Standard_June_2021_gssvL88361) 4p16.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46595 4p11 population region (DGV_Gold_Standard_June_2021_gssvL90109) 4p11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46594 4q13.2 population region (DGV_Gold_Standard_June_2021_gssvL90978) 4q13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46593 4q13.3 population region (DGV_Gold_Standard_June_2021_gssvL91223) 4q13.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46592 3q29 population region (DGV_Gold_Standard_June_2021_gssvG26791) 3q29 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-06 ISCA-46591 3p12.3 population region (DGV_Gold_Standard_June_2021_gssvL82434) 3p12.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46590 3p12.3 population region (DGV_Gold_Standard_June_2021_gssvL82397) 3p12.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46589 3q29 population region (DGV_Gold_Standard_June_2021_gssvL86947) 3q29 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46588 3q25.31 population region (DGV_Gold_Standard_June_2021_gssvL85294) 3q25.31 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46587 3q11.2 population region (DGV_Gold_Standard_June_2021_gssvL83307) 3q11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46586 3q11.2 population region (DGV_Gold_Standard_June_2021_gssvL83303) 3q11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46585 2q37.3 population region (DGV_Gold_Standard_June_2021_gssvL70815) 2q37.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46584 2q21.1 population region (DGV_Gold_Standard_June_2021_gssvL66075) 2q21.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46583 2p11.2 population region (DGV_Gold_Standard_June_2021_gssvL64514) 2p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46582 2p11.2 population region (DGV_Gold_Standard_June_2021_gssvL64458) 2p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46581 2p11.2 population region (DGV_Gold_Standard_June_2021_gssvL64445) 2p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46580 2p11.2 population region (DGV_Gold_Standard_June_2021_gssvL64421) 2p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46579 2p11.2 population region (DGV_Gold_Standard_June_2021_gssvL64418) 2p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46578 2p11.2 population region (DGV_Gold_Standard_June_2021_gssvL64414) 2p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46577 1q44 population region (DGV_Gold_Standard_June_2021_gssvL8958) 1q44 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46576 1q44 population region (DGV_Gold_Standard_June_2021_gssvL8766) 1q44 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46575 1q41 population region (DGV_Gold_Standard_June_2021_gssvL7905) 1q41 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46574 1q24.2 population region (DGV_Gold_Standard_June_2021_gssvL5980) 1q24.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46573 1q23.3 population region (DGV_Gold_Standard_June_2021_gssvL5778) 1q23.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46572 1q21.3 population region (DGV_Gold_Standard_June_2021_gssvL5433) 1q21.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46571 1q21.2 population region (DGV_Gold_Standard_June_2021_gssvL5166) 1q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46570 1q21.2 population region (DGV_Gold_Standard_June_2021_gssvL5133) 1q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46569 1q21.2 population region (DGV_Gold_Standard_June_2021_gssvL5122) 1q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46568 1p31.3 population region (DGV_Gold_Standard_June_2021_gssvL3013) 1p31.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46567 1p31.3 population region (DGV_Gold_Standard_June_2021_gssvL2940) 1p31.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46566 1p36.12 population region (DGV_Gold_Standard_June_2021_gssvL1420) 1p36.12 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46565 1p36.13 population region (DGV_Gold_Standard_June_2021_gssvL1195) 1p36.13 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46564 1p36.21 population region (DGV_Gold_Standard_June_2021_gssvL1109) 1p36.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46563 1p36.21 population region (DGV_Gold_Standard_June_2021_gssvL1108) 1p36.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46562 1p36.21 population region (DGV_Gold_Standard_June_2021_gssvL905) 1p36.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46561 1p36.21 population region (DGV_Gold_Standard_June_2021_gssvL891) 1p36.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46560 1p36.21 population region (DGV_Gold_Standard_June_2021_gssvL889) 1p36.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46559 1q21.3 population region (DGV_Gold_Standard_June_2021_gssvG2465) 1q21.3 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-06 ISCA-46558 1p13.3 population region (DGV_Gold_Standard_June_2021_gssvG1423) 1p13.3 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-06 ISCA-46557 1p36.21 population region (DGV_Gold_Standard_June_2021_gssvG371) 1p36.21 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-06 ISCA-46556 1p36.33 population region (DGV_Gold_Standard_June_2021_gssvG23) 1p36.33 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-06 ISCA-46554 1p36.33 population region ((DGV_Gold_Standard_June_2021_gssvG23)) 1p36.33 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-06 ISCA-46553 3q24 Region (includes ZIC1) 3q24 chr3:136684193 -148623326 3 Sufficient evidence for dosage pathogenicity 15338008 21204220 21471554 28503614 22067867 0 No evidence available 2021-07-19 ISCA-46552 Yq11.223 population region (gnomAD-SV_v2.1_DUP_Y_55057) Yq11.223 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-03 ISCA-46551 Yq11.223 population region (gnomAD-SV_v2.1_DUP_Y_55049) Yq11.223 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-03 ISCA-46550 Xq28 population region (gnomAD-SV_v2.1_DEL_X_190964) Xq28 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46549 Xq28 population region (gnomAD-SV_v2.1_DEL_X_190749) Xq28 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46548 Xq28 population region (gnomAD-SV_v2.1_DEL_X_190688) Xq28 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46547 Xq26.3 population region (gnomAD-SV_v2.1_DEL_X_189893) Xq26.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46546 Xq26.3 population region (gnomAD-SV_v2.1_DEL_X_189886) Xq26.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46545 Xq24 population region (gnomAD-SV_v2.1_DEL_X_189263) Xq24 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46544 Xq24 population region (gnomAD-SV_v2.1_DEL_X_189262) Xq24 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46543 Xp11.23 population region (gnomAD-SV_v2.1_DUP_X_53157) Xp11.23 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-03 ISCA-46542 Xp11.23 population region (gnomAD-SV_v2.1_DUP_X_53155) Xp11.23 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-03 ISCA-46541 Xp11.23 population region (gnomAD-SV_v2.1_DUP_X_53151) Xp11.23 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-03 ISCA-46540 Xp11.23 population region (gnomAD-SV_v2.1_DUP_X_53149) Xp11.23 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-03 ISCA-46539 Xp11.23 population region (gnomAD-SV_v2.1_DEL_X_186156) Xp11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46538 22q13.1 population region (gnomAD-SV_v2.1_DEL_22_182715) 22q13.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46537 22q11.23 population region (gnomAD-SV_v2.1_DEL_22_181682) 22q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46536 22q11.23 population region (gnomAD-SV_v2.1_DEL_22_181680) 22q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46535 22q11.23 population region (gnomAD-SV_v2.1_DEL_22_181679) 22q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46534 22q11.23 population region (gnomAD-SV_v2.1_DEL_22_181670) 22q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46533 22q11.21 population region (gnomAD-SV_v2.1_DEL_22_181532) 22q11.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46532 22q11.21 population region (gnomAD-SV_v2.1_DEL_22_181459) 22q11.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46531 22q11.21 population region (gnomAD-SV_v2.1_DEL_22_181452) 22q11.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46530 22q11.21 population region (gnomAD-SV_v2.1_DEL_22_181446) 22q11.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46529 22q11.21 population region (gnomAD-SV_v2.1_DEL_22_181316) 22q11.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46528 21q22.3 population region (gnomAD-SV_v2.1_DEL_21_181010) 21q22.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46527 21q11.2 population region (gnomAD-SV_v2.1_DEL_21_178683) 21q11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46526 21q11.2 population region (gnomAD-SV_v2.1_DEL_21_178682) 21q11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46525 21q11.2 population region (gnomAD-SV_v2.1_DEL_21_178681) 21q11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46524 19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173817) 19q13.42 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46523 19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173816) 19q13.42 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46522 19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173812) 19q13.42 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46521 19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173811) 19q13.42 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46520 19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173809) 19q13.42 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46519 19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173807) 19q13.42 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46518 19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173806) 19q13.42 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46517 19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173805) 19q13.42 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46516 19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173803) 19q13.42 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46515 19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173802) 19q13.42 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46514 19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173801) 19q13.42 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46513 19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173800) 19q13.42 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46512 19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173749) 19q13.42 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46511 19q13.41 population region (gnomAD-SV_v2.1_DEL_19_173549) 19q13.41 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46510 19q13.41 population region (gnomAD-SV_v2.1_DEL_19_173445) 19q13.41 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46509 19q13.41 population region (gnomAD-SV_v2.1_DEL_19_173443) 19q13.41 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46508 19q13.31 population region (gnomAD-SV_v2.1_DEL_19_172626) 19q13.31 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46507 19q13.31 population region (gnomAD-SV_v2.1_DEL_19_172625) 19q13.31 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46506 19q13.12 population region (gnomAD-SV_v2.1_DEL_19_172006) 19q13.12 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46505 19p13.2 population region (gnomAD-SV_v2.1_DUP_19_46817) 19p13.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46504 17q21.31 population region (gnomAD-SV_v2.1_DEL_17_160670) 17q21.31 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46503 17q21.31 population region (gnomAD-SV_v2.1_DEL_17_160664) 17q21.31 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46502 17q21.31 population region (gnomAD-SV_v2.1_DEL_17_160663) 17q21.31 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46501 17q21.31 population region (gnomAD-SV_v2.1_DEL_17_160662) 17q21.31 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46500 17q21.31 population region (gnomAD-SV_v2.1_DEL_17_160659) 17q21.31 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46499 17q21.31 population region (gnomAD-SV_v2.1_DEL_17_160658) 17q21.31 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46498 17q21.2 population region (gnomAD-SV_v2.1_DUP_17_44064) 17q21.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46497 17q21.2 population region (gnomAD-SV_v2.1_DEL_17_160290) 17q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46496 17q21.2 population region (gnomAD-SV_v2.1_DEL_17_160287) 17q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46495 17p11.2 population region (gnomAD-SV_v2.1_DEL_17_159095) 17p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46494 17p11.2 population region (gnomAD-SV_v2.1_DEL_17_159047) 17p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46493 16q22.1 population region (gnomAD-SV_v2.1_DUP_16_42449) 16q22.1 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46492 16p11.2 population region (gnomAD-SV_v2.1_DEL_16_153860) 16p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46491 16p11.2 population region (gnomAD-SV_v2.1_DUP_16_42022) 16p11.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46490 16p11.2 population region (gnomAD-SV_v2.1_DEL_16_153573) 16p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46489 16p11.2 population region (gnomAD-SV_v2.1_DEL_16_153568) 16p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46488 16p12.3 population region (gnomAD-SV_v2.1_DEL_16_152900) 16p12.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46487 16p13.11 population region (gnomAD-SV_v2.1_DEL_16_152730) 16p13.11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-23 ISCA-46485 16p13.12 population region (gnomAD-SV_v2.1_DEL_16_152600) 16p13.12 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46484 16p13.12 population region (gnomAD-SV_v2.1_DEL_16_152599) 16p13.12 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46483 16p13.3 population region (gnomAD-SV_v2.1_DEL_16_151010) 16p13.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46482 15q14 population region (gnomAD-SV_v2.1_DEL_15_146739) 15q14 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46481 15q14 population region (gnomAD-SV_v2.1_DEL_15_146738) 15q14 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46480 15q13.3 population region (gnomAD-SV_v2.1_DEL_15_146627) 15q13.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46479 15q13.3 population region (gnomAD-SV_v2.1_DEL_15_146625) 15q13.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46478 15q13.3 population region (gnomAD-SV_v2.1_DEL_15_146614) 15q13.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46477 15q13.3 population region (gnomAD-SV_v2.1_DEL_15_146612) 15q13.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46476 15q13.3 population region (gnomAD-SV_v2.1_DEL_15_146609) 15q13.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46475 15q13.3 population region (gnomAD-SV_v2.1_DUP_15_39790) 15q13.3 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-09 ISCA-46474 15q13.2 population region (gnomAD-SV_v2.1_DEL_15_146467) 15q13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46473 15q13.2 population region (gnomAD-SV_v2.1_DEL_15_146464) 15q13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46472 15q13.2 population region (gnomAD-SV_v2.1_DEL_15_146452) 15q13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46471 15q13.2 population region (gnomAD-SV_v2.1_DEL_15_146453) 15q13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46470 15q13.2 population region (gnomAD-SV_v2.1_DEL_15_146428) 15q13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46469 15q11.2 population region (gnomAD-SV_v2.1_DEL_15_145837) 15q11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46468 15q11.2 population region (gnomAD-SV_v2.1_DEL_15_145826) 15q11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46467 14q11.2 population region (gnomAD-SV_v2.1_DEL_14_140616) 14q11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46466 12q12 population region (gnomAD-SV_v2.1_DEL_12_127735) 12q12 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46465 12p11.23 population region (gnomAD-SV_v2.1_DEL_12_126677) 12p11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46464 12p13.2 population region (gnomAD-SV_v2.1_DEL_12_125610) 12p13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46463 12p13.2 population region (gnomAD-SV_v2.1_DEL_12_125568) 12p13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46462 12p13.2 population region (gnomAD-SV_v2.1_DEL_12_125567) 12p13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46461 12p13.31 population region (gnomAD-SV_v2.1_DUP_12_33971) 12p13.31 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-09 ISCA-46460 11q14.3 population region (gnomAD-SV_v2.1_DEL_11_121860) 11q14.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46459 11q14.3 population region (gnomAD-SV_v2.1_DUP_11_33042) 11q14.3 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-09 ISCA-46458 11q11 population region (gnomAD-SV_v2.1_DEL_11_119564) 11q11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46457 11q11 population region (gnomAD-SV_v2.1_DEL_11_119505) 11q11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46456 11p15.4 population region (gnomAD-SV_v2.1_DEL_11_116241) 11p15.4 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46455 11p15.4 population region (gnomAD-SV_v2.1_DEL_11_116124) 11p15.4 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46454 11p15.4 population region (gnomAD-SV_v2.1_DEL_11_116046) 11p15.4 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46453 10q22.3 population region (gnomAD-SV_v2.1_DEL_10_112166) 10q22.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46452 10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110230) 10q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46451 10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110229) 10q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46450 10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110225) 10q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46449 10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110224) 10q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46448 10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110223) 10q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46447 10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110222) 10q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46446 10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110221) 10q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46445 10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110193) 10q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46444 10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110072) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46443 10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110044) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46442 10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110043) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46441 10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110040) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46440 10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110031) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46439 10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110022) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46438 10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110021) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46437 10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110019) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46436 10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110016) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46435 10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110001) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46434 10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110000) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46433 10q11.22 population region (gnomAD-SV_v2.1_DEL_10_109999) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46432 10q11.22 population region (gnomAD-SV_v2.1_DEL_10_109998) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46431 10q11.22 population region (gnomAD-SV_v2.1_DEL_10_109958) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46430 10q11.22 population region (gnomAD-SV_v2.1_DEL_10_109954) 10q11.22 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46429 10p12.33 population region (gnomAD-SV_v2.1_DEL_10_108289) 10p12.33 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46428 10p12.33 population region (gnomAD-SV_v2.1_DEL_10_108288) 10p12.33 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46427 10p12.33 population region (gnomAD-SV_v2.1_DEL_10_108283) 10p12.33 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46426 10p12.33 population region (gnomAD-SV_v2.1_DEL_10_108282) 10p12.33 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46425 9q34.3 population region (gnomAD-SV_v2.1_DEL_9_106704) 9q34.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46424 9q31.2 population region (gnomAD-SV_v2.1_DEL_9_104809) 9q31.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46423 9q21.11 population region (gnomAD-SV_v2.1_DUP_9_27462) 9q21.11 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-17 ISCA-46422 9q21.11 population region (gnomAD-SV_v2.1_DUP_9_27460) 9q21.11 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-10 ISCA-46421 9q21.11 population region (gnomAD-SV_v2.1_DEL_9_102461) 9q21.11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46420 9q21.11 population region (gnomAD-SV_v2.1_DEL_9_102460) 9q21.11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46419 9q21.11 population region (gnomAD-SV_v2.1_DEL_9_102459) 9q21.11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46418 9q13 population region (gnomAD-SV_v2.1_DEL_9_102391) 9q13 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46417 9q12 population region (gnomAD-SV_v2.1_DEL_9_102303) 9q12 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46416 9p11.1 population region (gnomAD-SV_v2.1_DEL_9_102297) 9p11.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46415 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102296) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46414 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102294) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46413 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102236) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46412 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102187) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46411 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102099) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46410 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102097) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46409 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102096) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46408 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102085) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46407 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102049) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46406 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102048) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46405 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102047) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46404 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102046) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46403 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102043) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46402 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102042) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46401 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102036) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46400 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102035) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46399 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102032) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46398 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102027) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46397 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102025) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46396 9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102024) 9p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46395 9p12 population region (gnomAD-SV_v2.1_DEL_9_101967) 9p12 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46394 9p12 population region (gnomAD-SV_v2.1_DEL_9_101925) 9p12 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46393 9p12 population region (gnomAD-SV_v2.1_DEL_9_101915) 9p12 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46392 9p13.1 population region (gnomAD-SV_v2.1_DEL_9_101840) 9p13.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46391 9p24.3 population region (gnomAD-SV_v2.1_DUP_9_26178) 9p24.3 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-11 ISCA-46390 8q24.3 population region (gnomAD-SV_v2.1_DEL_8_98285) 8q24.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46389 8q24.3 population region (gnomAD-SV_v2.1_DEL_8_98283) 8q24.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46388 8p23.1 population region (gnomAD-SV_v2.1_DEL_8_89725) 8p23.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46387 8p23.1 population region (gnomAD-SV_v2.1_DUP_8_23819) 8p23.1 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-11 ISCA-46386 8p23.1 population region (gnomAD-SV_v2.1_DEL_8_89706) 8p23.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46385 8p23.1 population region (gnomAD-SV_v2.1_DEL_8_89703) 8p23.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46384 8p23.1 population region (gnomAD-SV_v2.1_DEL_8_89357) 8p23.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46383 8p23.1 population region (gnomAD-SV_v2.1_DEL_8_89356) 8p23.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46382 8p23.1 population region (gnomAD-SV_v2.1_DEL_8_89355) 8p23.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46381 8p23.1 population region (gnomAD-SV_v2.1_DUP_8_23708) 8p23.1 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-17 ISCA-46380 8p23.1 population region (gnomAD-SV_v2.1_DEL_8_89353) 8p23.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46379 8p23.3 population region (gnomAD-SV_v2.1_DEL_8_88408) 8p23.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46378 8p23.3 population region (gnomAD-SV_v2.1_DEL_8_88399) 8p23.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46377 7q35 population region (gnomAD-SV_v2.1_DEL_7_87112) 7q35 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46376 7q34 population region (gnomAD-SV_v2.1_DEL_7_87016) 7q34 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46375 7q34 population region (gnomAD-SV_v2.1_DEL_7_87015) 7q34 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46374 7q22.1 population region (gnomAD-SV_v2.1_DEL_7_84412) 7q22.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46373 7q22.1 population region (gnomAD-SV_v2.1_DEL_7_84190) 7q22.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46372 7q11.23 population region (gnomAD-SV_v2.1_DEL_7_82638) 7q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46371 7q11.23 population region (gnomAD-SV_v2.1_DEL_7_82637) 7q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46370 7q11.23 population region (gnomAD-SV_v2.1_DEL_7_82636) 7q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46369 7q11.23 population region (gnomAD-SV_v2.1_DEL_7_82621) 7q11.23 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46368 7q11.21 population region (gnomAD-SV_v2.1_DEL_7_81890) 7q11.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46367 7p22.1 population region (gnomAD-SV_v2.1_DEL_7_77893) 7p22.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46366 7p22.1 population region (gnomAD-SV_v2.1_DEL_7_77769) 7p22.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46365 7p22.1 population region (gnomAD-SV_v2.1_DEL_7_77765) 7p22.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46364 5q35.3 population region (gnomAD-SV_v2.1_DEL_5_65880) 5q35.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46363 5q35.3 population region (gnomAD-SV_v2.1_DEL_5_65831) 5q35.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46362 5q31.3 population region (gnomAD-SV_v2.1_DEL_5_63328) 5q31.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46361 5q13.2 population region (gnomAD-SV_v2.1_DEL_5_58900) 5q13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46360 5q13.2 population region (gnomAD-SV_v2.1_DUP_5_15442) 5q13.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-12 ISCA-46359 5q13.2 population region (gnomAD-SV_v2.1_DEL_5_58897) 5q13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46358 5q13.2 population region (gnomAD-SV_v2.1_DUP_5_15350) 5q13.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-12 ISCA-46357 4q13.3 population region (gnomAD-SV_v2.1_DEL_4_46753) 4q13.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46356 4q13.3 population region (gnomAD-SV_v2.1_DEL_4_46744) 4q13.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46355 4q13.2 population region (gnomAD-SV_v2.1_DEL_4_46404) 4q13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46354 4q13.2 population region (gnomAD-SV_v2.1_DEL_4_46401) 4q13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46353 4q13.2 population region (gnomAD-SV_v2.1_DEL_4_46399) 4q13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46352 4q13.2 population region (gnomAD-SV_v2.1_DEL_4_46398) 4q13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46351 4q13.2 population region (gnomAD-SV_v2.1_DEL_4_46396) 4q13.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46350 3p12.3 population region (gnomAD-SV_v2.1_DEL_3_33722) 3p12.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46349 2q21.2 population region (gnomAD-SV_v2.1_DUP_2_6167) 2q21.2 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-06 ISCA-46348 2q21.2 population region (gnomAD-SV_v2.1_DEL_2_22275) 2q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46347 2q21.1 population region (gnomAD-SV_v2.1_DEL_2_22163) 2q21.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46346 2q21.1 population region (gnomAD-SV_v2.1_DEL_2_22156) 2q21.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46345 2q21.1 population region (gnomAD-SV_v2.1_DEL_2_22155) 2q21.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46344 2q21.1 population region (gnomAD-SV_v2.1_DEL_2_22135) 2q21.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46343 2q21.1 population region (gnomAD-SV_v2.1_DEL_2_22133) 2q21.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46342 2p11.2 population region (gnomAD-SV_v2.1_DEL_2_19888) 2p11.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46341 1q44 population region (gnomAD-SV_v2.1_DEL_1_13898) 1q44 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46340 1q44 population region (gnomAD-SV_v2.1_DEL_1_13890) 1q44 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46339 1q44 population region (gnomAD-SV_v2.1_DEL_1_13889) 1q44 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46338 1q44 population region (gnomAD-SV_v2.1_DEL_1_13888) 1q44 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46337 1q44 population region (gnomAD-SV_v2.1_DEL_1_13885) 1q44 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46336 1q44 population region (gnomAD-SV_v2.1_DUP_1_3816) 1q44 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-06 ISCA-46335 1q32.2 population region (gnomAD-SV_v2.1_DEL_1_11282) 1q32.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-16 ISCA-46334 1q25.2 population region (gnomAD-SV_v2.1_DEL_1_9549) 1q25.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46333 1q23.3 population region (gnomAD-SV_v2.1_DEL_1_8646) 1q23.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46332 1q21.3 population region (gnomAD-SV_v2.1_DEL_1_8087) 1q21.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46331 1q21.3 population region (gnomAD-SV_v2.1_DEL_1_8075) 1q21.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46330 1q21.2 population region (gnomAD-SV_v2.1_DEL_1_7863) 1q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46329 1q21.2 population region (gnomAD-SV_v2.1_DEL_1_7859) 1q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46328 1q21.2 population region (gnomAD-SV_v2.1_DEL_1_7798) 1q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46327 1q21.2 population region (gnomAD-SV_v2.1_DEL_1_7795) 1q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46326 1q21.2 population region (gnomAD-SV_v2.1_DEL_1_7781) 1q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46325 1q21.2 population region (gnomAD-SV_v2.1_DEL_1_7778) 1q21.2 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46324 1q21.1 population region (gnomAD-SV_v2.1_DEL_1_7699) 1q21.1 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46323 1p13.3 population region (gnomAD-SV_v2.1_DEL_1_7022) 1p13.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46322 1p13.3 population region (gnomAD-SV_v2.1_DEL_1_6959) 1p13.3 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46321 1p21.1 population region (gnomAD-SV_v2.1_DUP_1_1884) 1p21.1 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-06 ISCA-46320 1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1945) 1p36.11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46319 1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1944) 1p36.11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46318 1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1943) 1p36.11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46317 1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1941) 1p36.11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46316 1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1939) 1p36.11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46315 1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1938) 1p36.11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46314 1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1937) 1p36.11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-17 ISCA-46313 1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1834) 1p36.11 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-12 ISCA-46312 1p36.21 population region (gnomAD-SV_v2.1_DEL_1_1100) 1p36.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46311 1p36.21 population region (gnomAD-SV_v2.1_DEL_1_1094) 1p36.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46310 1p36.21 population region (gnomAD-SV_v2.1_DEL_1_1089) 1p36.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46309 1p36.21 population region (gnomAD-SV_v2.1_DEL_1_1085) 1p36.21 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46308 1p36.21 population region (gnomAD-SV_v2.1_DUP_1_507) 1p36.21 tbd 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-06 ISCA-46307 1p36.33 population region (gnomAD-SV_v2.1_DEL_1_195) 1p36.33 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46306 1p36.33 population region (gnomAD-SV_v2.1_DEL_1_11) 1p36.33 tbd 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46304 Xq28 region (includes MECP2) Xq28 chrX:154008529 -154110279 0 No evidence available 3 Sufficient evidence for dosage pathogenicity 32043567 29618507 22679399 29141583 2021-02-22 300260 ISCA-46303 SOX9 upstream enhancer region 17q24.3 tbd 3 Sufficient evidence for dosage pathogenicity 19234473 26663529 24934569 1 Little evidence for dosage pathogenicity 32583964 19639023 2021-06-07 106995 261800 ISCA-46302 Xp21.2 region (includes NR0B1) Xp21.2 chrX:30176883 -30336883 0 No evidence available 3 Sufficient evidence for dosage pathogenicity 22518125 17504899 20685758 2020-07-22 300018 ISCA-46300 15q24 recurrent region (C-D) (includes SIN3A) 15q24 chr15:75339446-75680568 3 Sufficient evidence for dosage pathogenicity 27399968 22180641 0 No evidence available 2020-01-13 613406 ISCA-46299 Xp11.22 region (includes HUWE1) Xp11.22 chrX:53334251 -53766556 0 No evidence available 3 Sufficient evidence for dosage pathogenicity 22840365 20655035 26692240 2018-11-19 ISCA-46298 13q12.12 recurrent region (includes SACS and SGCG) 13q12.12 chr13:22970443-24307222 0 No evidence available 30767844 40 Dosage sensitivity unlikely 2021-04-26 270550,253700 ISCA-46297 16p12.2 recurrent region (includes OTOA) (distal region) 16p12.2 chr16:21558792-21729102 30 Gene associated with autosomal recessive phenotype 40 Dosage sensitivity unlikely 2019-11-03 607039 ISCA-46296 15q24 recurrent region (A-C) 15q24.1-q24.2 chr15:72671374-75215971 3 Sufficient evidence for dosage pathogenicity 22180641 19921647 1 Little evidence for dosage pathogenicity 19557438 20860070 2020-01-03 ISCA-46295 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) 15q13.3 chr15:31727418-32153204 3 Sufficient evidence for dosage pathogenicity 19898479 20236110 22775350 40 Dosage sensitivity unlikely 26968334 22420048 2018-05-10 ISCA-46291 7q11.23 recurrent distal region (includes HIP1, YWHAG) 7q11.23 chr7:75528718-76433859 2 Some evidence for dosage pathogenicity 21109226 16971481 1 Little evidence for dosage pathogenicity 21109226 27867344 2018-12-31 ISCA-46290 Xp11.22p11.23 recurrent region (includes SHROOM4) Xp11.22-p11.23 chrX: 48447780-52444264 0 No evidence available 3 Sufficient evidence for dosage pathogenicity 19716111 21418194 25425167 2017-12-14 300801 ISCA-46288 2q21.1 recurrent region (includes ARHGEF4, GPR148) 2q21.1 chr2:130719936-131172120 1 Little evidence for dosage pathogenicity 22543972 24591035 25661985 0 No evidence available 22543972 2019-09-30 ISCA-46287 2p24.3 MYCN-DDX1 duplication region 2p24.3 chr2:15568553-16045215 2 Some evidence for dosage pathogenicity 27794475 24161495 23401364 2017-08-07 ISCA-46285 15q13 recurrent region (BP3-BP4) (includes APBA2) 15q13.1-q13.2 chr15:28916886-30076787 0 No evidence available 21248749 19372089 18278044 0 No evidence available 2020-03-09 ISCA-37516 22q11.2 recurrent region (central, B/C-D) (includes CRKL) 22q11.21 chr22:20377696-21111383 2 Some evidence for dosage pathogenicity 25123976 22893440 26278718 1 Little evidence for dosage pathogenicity 22796526 18414210 19490635 2017-09-14 ISCA-37514 15q25.2q25.3 recurrent region (LCR C-D, distal) 15q25.2-q25.3 chr15:84596421-85169770 1 Little evidence for dosage pathogenicity 23239641 0 No evidence available 2020-06-26 ISCA-37501 17q23.1q23.2 recurrent region (includes TBX2, TBX4) 17q23.1-q23.2 chr17:60035641-62198448 3 Sufficient evidence for dosage pathogenicity 20206336 22052739 2 Some evidence for dosage pathogenicity 20598276 24592505 2018-11-19 613355 ISCA-37500 15q25.2 recurrent region (LCR B-C, proximal) 15q25.2 chr15:82534140-84045981 3 Sufficient evidence for dosage pathogenicity 24352913 23166063 17847001 0 No evidence available 2016-10-13 614294 ISCA-37498 11q13.2q13.4 recurrent region (includes SHANK2, FGFs) 11q13.2-q13.4 chr11:67996175-71525885 2 Some evidence for dosage pathogenicity 21373257 28211979 0 No evidence available 2018-01-26 ISCA-37496 2q13 recurrent region (includes BCL2L11) 2q13 chr2:110634616-112347165 2 Some evidence for dosage pathogenicity 26227573 26236398 21255006 2 Some evidence for dosage pathogenicity 26227573 24807792 21255006 2018-06-22 ISCA-37495 2q11.2 recurrent region (includes ARID5A, LMAN2L) 2q11.2 chr2:96073264-97005692 1 Little evidence for dosage pathogenicity 26227573 19443486 1 Little evidence for dosage pathogenicity 26227573 19443486 2020-02-28 ISCA-37494 Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Xq28 chrX:154890328-155335092 3 Sufficient evidence for dosage pathogenicity 25927380 21984752 3 Sufficient evidence for dosage pathogenicity 25927380 21984752 24357492 2018-08-30 300815 ISCA-37493 1q43q44 terminal region (includes AKT3) 1q43-q44 chr1:243124428-245154985 3 Sufficient evidence for dosage pathogenicity 17603806 21800092 22678713 0 No evidence available 23794269 2016-10-12 612337 ISCA-37486 16p11.2 recurrent region (distal, BP2-BP3) (includes SH2B1) 16p11.2 chr16:28811314-29035178 3 Sufficient evidence for dosage pathogenicity 20808231 19966786 23258348 1 Little evidence for dosage pathogenicity 27240531 23258348 2017-03-09 613444 ISCA-37483 19q13.3 region (PSG gene cluster) 19q13 chr19:42738644-43237158 40 Dosage sensitivity unlikely 40 Dosage sensitivity unlikely 2014-03-13 ISCA-37481 3 copies: 16p centromere 16p11.1 chr16:34967717-35913137 40 Dosage sensitivity unlikely 40 Dosage sensitivity unlikely 2013-08-01 ISCA-37480 3 copies: 15q telomere 15q26.3 chr15:101621277-101981189 0 No evidence available 40 Dosage sensitivity unlikely 2013-11-26 ISCA-37478 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) 15q11.2-q13.1 chr15:23465365-28134728 3 Sufficient evidence for dosage pathogenicity 7611294 22045295 3 Sufficient evidence for dosage pathogenicity 9106540 18374305 16840569 2013-11-26 176270,105830 608636 ISCA-37477 1 copy: 14q telomere; 3 copies: 14q telomere 14q32.3 tbd 40 Dosage sensitivity unlikely 40 Dosage sensitivity unlikely 2014-07-31 ISCA-37476 14q11.2 region (TCRA region) 14q11.2 chr14:21642889-22552154 40 Dosage sensitivity unlikely 40 Dosage sensitivity unlikely 2015-04-09 ISCA-37472 8p23.1 region (DEFB gene cluster) 8p23.1 chr8:7195664-8273167 40 Dosage sensitivity unlikely 40 Dosage sensitivity unlikely 2014-03-12 ISCA-37471 1 copy: 6p telomere | 3 copies: 6p telomere 6p25 chr6:259528-339802 40 Dosage sensitivity unlikely 40 Dosage sensitivity unlikely 2014-06-20 ISCA-37470 1 copy: 2q telomere|3 copies: 2q telomere 2q37.3 tbd 40 Dosage sensitivity unlikely 40 Dosage sensitivity unlikely 2014-04-24 ISCA-37469 1q21.2 region (polymorphic region)(non-unique; also maps to chromosomes 16, 7, and others in GRCh38) 1q21.2 chr16:34632766 -36224317 40 Dosage sensitivity unlikely 40 Dosage sensitivity unlikely 2020-10-22 ISCA-37468 Xp11.23 region (includes MAOA and MAOB) Xp11.23 chrX:43654906-43882474 3 Sufficient evidence for dosage pathogenicity 22365943 20485326 23414621 0 No evidence available 2017-10-11 ISCA-37467 7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) 7q36.3 chr7:156791102-156791874 0 No evidence available 3 Sufficient evidence for dosage pathogenicity 18178630 18417549 19291772 2018-02-14 174500 ISCA-37449 14q32 region associated with UPD(14) phenotypes 14q32 chr14:99928257-101038192 2 Some evidence for dosage pathogenicity 20179077 18454453 0 No evidence available 2012-05-10 608149 ISCA-37448 15q11.2 recurrent region (BP1-BP2) (includes NIPA1) 15q11.2 chr15:22782170-23040134 3 Sufficient evidence for dosage pathogenicity 31451536 24352232 30767844 31665216 40 Dosage sensitivity unlikely 2021-04-12 ISCA-37447 DLK1-MEG3 Intergenic DMR 14q32.2 chr14:100725054-100828279 1 Little evidence for dosage pathogenicity 20585555 0 No evidence available 2012-05-10 608149 ISCA-37446 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) 22q11.21 chr22:18924718-21111383 3 Sufficient evidence for dosage pathogenicity 20301696 27189754 3 Sufficient evidence for dosage pathogenicity 20301749 19254783 18414210 2018-08-31 188400 608363 ISCA-37443 3q29 recurrent region (includes DLG1) 3q29 chr3:196029183-197617791 3 Sufficient evidence for dosage pathogenicity 2 Some evidence for dosage pathogenicity 18241066 18471269 24838842 2016-01-21 609425 611936 ISCA-37442 6q24 region (includes PLAGL1) 6q24 chr6:143922155-144095424 1 Little evidence for dosage pathogenicity 16971482 3 Sufficient evidence for dosage pathogenicity 10615957 8842729 10923638 2016-05-24 601410 ISCA-37441 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) 11p11.2 chr11:43873250-46130899 3 Sufficient evidence for dosage pathogenicity 15852040 16319823 20140962 0 No evidence available 2013-12-12 601224 ISCA-37440 2p21 region (includes PREPL and SLC3A1) 2p21 chr2:44183133-44362502 30 Gene associated with autosomal recessive phenotype 11524703 16385448 18234729 0 No evidence available 2012-03-21 606407 ISCA-37439 Xq28 recurrent region (includes GDI1) Xq28 chrX:154396223-154555683 0 No evidence available 3 Sufficient evidence for dosage pathogenicity 20004760 17546640 18047645 2016-05-26 300815 ISCA-37438 14q11.2 region including CHD8 and SUPT16H 14q11.2 chr14:21358741-21393828 2 Some evidence for dosage pathogenicity 17545556 0 No evidence available 2012-05-09 ISCA-37436 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) 17p12 chr17:14194598-15519638 3 Sufficient evidence for dosage pathogenicity 20301566 3 Sufficient evidence for dosage pathogenicity 20301384 2016-10-13 162500 118220 ISCA-37434 1p36 terminal region (includes GABRD) 1p36.33-p36.31 chr1:898703 -6229913 3 Sufficient evidence for dosage pathogenicity 17918734 18245432 22766398 2 Some evidence for dosage pathogenicity 2016-05-31 607872 ISCA-37433 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) 22q11.21 chr22:18924718-20299685 3 Sufficient evidence for dosage pathogenicity 20301696 27189754 26278718 3 Sufficient evidence for dosage pathogenicity 20301749 19254783 18414210 2018-08-31 188400 608363 ISCA-37432 17q12 recurrent (RCAD syndrome) region (includes HNF1B) 17q12 chr17:36458167-37854616 3 Sufficient evidence for dosage pathogenicity 3 Sufficient evidence for dosage pathogenicity 2015-08-10 614527 614526 ISCA-37431 17q11.2 recurrent region (includes NF1) 17q11.2 chr17:30780079-31937008 3 Sufficient evidence for dosage pathogenicity 20513137 20543202 22151963 2 Some evidence for dosage pathogenicity 22241097 18183042 25205021 2020-10-12 613675 618874 ISCA-37430 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) 17p13.3 chr17:1344539-2685615 3 Sufficient evidence for dosage pathogenicity 3391613, 1671808, 1879837, 7634541, 19584063, 12621583 3 Sufficient evidence for dosage pathogenicity 19136950 19520700 23813913 2016-11-09 247200 613215 ISCA-37429 4p16.3 terminal (Wolf-Hirschhorn syndrome) region 4p16.3 chr4:337779 -2009235 3 Sufficient evidence for dosage pathogenicity 2 Some evidence for dosage pathogenicity 2016-08-11 194190 ISCA-37428 1q21.1 recurrent (TAR syndrome) region (BP2-BP3, proximal) (includes RBM8A) 1q21.1 chr1:145686999-146048495 1 Little evidence for dosage pathogenicity 22317977 25217958 1 Little evidence for dosage pathogenicity 22317977 25217958 2017-05-18 274000 ISCA-37425 5q35 recurrent (Sotos syndrome) region (includes NSD1) 5q35.2-q35.3 chr5:176301976-177620792 3 Sufficient evidence for dosage pathogenicity 3 Sufficient evidence for dosage pathogenicity 23599694 23913520 24819041 2014-04-10 117550 ISCA-37424 10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) 10q22.3-q23.2 chr10:79923087-86979631 3 Sufficient evidence for dosage pathogenicity 20345475 21248748 24550761 1 Little evidence for dosage pathogenicity 21248748 26383923 2016-10-13 612242 ISCA-37421 1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) 1q21.1-q21.2 chr1:147105904-147917509 3 Sufficient evidence for dosage pathogenicity 3 Sufficient evidence for dosage pathogenicity 22199024 23018752 2016-04-14 612474 612475 ISCA-37420 17q21.3 recurrent region (includes KANSL1) 17q21.3 chr17:45627800-46087514 3 Sufficient evidence for dosage pathogenicity 20301783 18628315 1 Little evidence for dosage pathogenicity 19502243 24649381 26565673 2020-08-10 610443 ISCA-37418 17p11.2 recurrent (SMS/PLS) region (includes RAI1) 17p11.2 chr17:16906714-20309889 3 Sufficient evidence for dosage pathogenicity 3 Sufficient evidence for dosage pathogenicity 17357070 20188345 2013-11-21 182290 610883 ISCA-37417 Xp22.31 recurrent region (includes STS) Xp22.31 chrX:6537771-8156913 3 Sufficient evidence for dosage pathogenicity 40 Dosage sensitivity unlikely 2021-07-01 308100 ISCA-37415 16p13.11 recurrent region (BP2-BP3) (includes MYH11) 16p13.11 chr16:15417854-16198408 3 Sufficient evidence for dosage pathogenicity 18550696 19843651 24246141 2 Some evidence for dosage pathogenicity 30767844 24352232 30287593 2021-04-12 ISCA-37411 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) 15q13 chr15:30900686-32153204 3 Sufficient evidence for dosage pathogenicity 18278044 19289393 19136953 1 Little evidence for dosage pathogenicity 19372089 18805830 26997942 2018-04-27 612001 ISCA-37409 16p12.2 recurrent region (includes EEF2K, CDR2) (proximal region) 16p12.2 chr16:21937124-22419483 2 Some evidence for dosage pathogenicity 20154674 24163246 23682798 0 No evidence available 2018-03-23 ISCA-37408 2p15p16.1 region (includes BCL11A) 2p15-p16.1 chr2:58912065-62261736 3 Sufficient evidence for dosage pathogenicity 16963482 18245392 22579565 1 Little evidence for dosage pathogenicity 22726847 26278498 2016-06-08 612513 ISCA-37406 16p13.3 region (includes CREBBP) 16p13.3 chr16:3725055-3880120 3 Sufficient evidence for dosage pathogenicity 1 Little evidence for dosage pathogenicity 2016-06-09 610543 ISCA-37405 2q13 recurrent region (includes NPHP1) 2q13 chr2:110104531-110228181 30 Gene associated with autosomal recessive phenotype 40 Dosage sensitivity unlikely 2016-02-25 ISCA-37404 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) 15q11.2-q13.1 chr15:22782170-28134728 3 Sufficient evidence for dosage pathogenicity 7611294 22045295 3 Sufficient evidence for dosage pathogenicity 9106540 18374305 16840569 2013-11-26 176270,105830 608636 ISCA-37401 11p13 (WAGR syndrome) region 11p13 chr11:31781961-32489442 3 Sufficient evidence for dosage pathogenicity 1 Little evidence for dosage pathogenicity 23701296 2016-05-24 194072 ISCA-37400 16p11.2 recurrent region (proximal, BP4-BP5) (includes TBX6) 16p11.2 chr16:29638676-30188531 3 Sufficient evidence for dosage pathogenicity 20301775 18184952 21841781 3 Sufficient evidence for dosage pathogenicity 18184952 21731881 21841781 2017-02-09 611913 614671 ISCA-37397 22q11.2 recurrent region (distal type I, D-E/F) 22q11.21-q11.22 chr22:21562828-23306924 3 Sufficient evidence for dosage pathogenicity 23765049 21671380 18179902 3 Sufficient evidence for dosage pathogenicity 22140377 19193630 18414210 2015-03-12 611867 ISCA-37396 15q24 recurrent region (A-D) (includes SIN3A) 15q24.1-q24.2 chr15:72671374-75680568 3 Sufficient evidence for dosage pathogenicity 22180641 19557438 19233321 1 Little evidence for dosage pathogenicity 2018-08-31 614294 ISCA-37394 2q37.3 terminal region (includes HDAC4) 2q37.3 chr2:239032997-241988449 3 Sufficient evidence for dosage pathogenicity 19752160 23188045 25402011 0 No evidence available 2016-06-13 600430 ISCA-37393 22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) 22q11.1-q11.21 chr22:16912063-18109094 0 No evidence available 16708226 3 Sufficient evidence for dosage pathogenicity 22890013 22495764 11693792 2014-02-27 115470 ISCA-37392 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) 7q11.23 chr7:73330452-74728172 3 Sufficient evidence for dosage pathogenicity 20301427 3 Sufficient evidence for dosage pathogenicity 26610320 2015-08-06 194050 609757 ISCA-37390 5p15 terminal (Cri du chat syndrome) region 5p15.33-p15.2 chr5:37695-11347150 3 Sufficient evidence for dosage pathogenicity 15635506 11238681 2 Some evidence for dosage pathogenicity 2016-06-21 123450