#ClinGen Region Curation Results #19 Mar,2026 #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 Haploinsufficiency Disease ID Triplosensitivity Disease ID ISCA-46757 21q21.3 region (includes APP) 21q21.3 chr21:25734570-26573286 0 No evidence available 3 Sufficient evidence for dosage pathogenicity 19684239 21193246 37170141 2025-10-27 ISCA-46755 16p12.3 recurrent region (BP3-BP4) (includes XYLT1) 16p12.3 chr16:16762939-18073544 0 No evidence available 0 No evidence available 2025-06-06 ISCA-46754 2p11.2 recurrent region (includes EIF2AK3, RPIA) 2p11.2 chr2:87995627-88758069 0 No evidence available 31600545 31204702 25655429 0 No evidence available 2024-09-12 ISCA-46753 15q13.3q14 recurrent region (BP5-BP6) (includes GREM1) 15q13.3-q14 chr15:32607508-34378801 1 Little evidence for dosage pathogenicity 18561338 17163532 18458017 0 No evidence available 20610440 2025-01-09 ISCA-46748 19p13.3 Critical Region 1 (CR1) 19p13.3 tbd 0 No evidence available 1 Little evidence for dosage pathogenicity 36196855 25853300 2023-10-10 MONDO:0100038 ISCA-46745 MEG3/DLK1:Intergenic-Differentially Methylated Region (MEG3/DLK1:IG-DMR) 14q32.2 chr14:100809090-100811721 1 Little evidence for dosage pathogenicity 20585555 20585555 35544282 0 No evidence available 2024-09-13 MONDO:0016779 ISCA-46744 MEG3:Transcription Start Site-Differentially Methylated Region (MEG3:TSS-DMR) 14q32.2 chr14:100824187-100827641 1 Little evidence for dosage pathogenicity 20585555 24801763 31301299 0 No evidence available 2024-09-13 MONDO:0016779 ISCA-46743 Xq25 region (includes STAG2) Xq25 chrX:123900469-124102669 3 Sufficient evidence for dosage pathogenicity 3 Sufficient evidence for dosage pathogenicity 23637084 24733578 26443594 25677961 31609727 2022-11-30 MONDO:0100038 ISCA-46742 7p22.1 region (includes ACTB) 7p22.1 chr7:5497217-5760091 3 Sufficient evidence for dosage pathogenicity 27633570 29220674 32562408 1 Little evidence for dosage pathogenicity 26297194 21998864 22495914 25893121 25124455 27866048 2022-02-08 MONDO:0000508 MONDO:0100038 ISCA-46739 Yq11.223 population region (DGV_Gold_Standard_June_2021_gssvL138428) Yq11.223 chrY:23707042-24000812 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 chrY:22215719-22319024 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 chrX:143513946-143712498 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 chrX:76917203-76920597 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 chrX:48020900-48092718 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46734 Xq28 population region (DGV_Gold_Standard_June_2021_gssvG41365) Xq28 chrX:154144372-154195156 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-03 ISCA-46733 Xq24 population region (DGV_Gold_Standard_June_2021_gssvG41158) Xq24 chrX:120872658-120990043 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 chr22:25307292-25389268 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 chr22:21512587-21554998 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 chr22:21357191-21387766 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 chr22:21458269-21562279 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 chr22:18578203-18649330 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 chr22:22881268-22896812 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 chr22:23972100-23992644 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 21p11.2 population region (DGV_Gold_Standard_June_2021_gssvG23340) 21p11.2 chr21:10807602-11085101 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 chr21:13585184-13829682 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 chr21:43549137-43554132 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 chr21:43550452-43551866 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 chr20:21505887-21516082 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 chr20:30274364-30301403 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46718 19p12 population region (DGV_Gold_Standard_June_2021_gssvL57428) 19p12 chr19:21904297-22959138 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 chr19:55769264-55778196 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46716 19p12 population region (DGV_Gold_Standard_June_2021_gssvL57316) 19p12 chr19:20412004-20542598 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 chr19:15616920-15676907 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 chr19:46119085-46125218 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 chr19:53436136-53473398 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 chr18:46962327-46978121 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 chr18:14432554-14565139 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 chr18:26167795-26171731 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 chr18:9784175-9793227 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 chr18:3568885-3571732 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 chr17:41375466-41383480 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-04 ISCA-46706 17q12 population region (DGV_Gold_Standard_June_2021_gssvG16427) 17q12 chr17:36175580-36196832 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 chr17:18456500-18473362 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 chr17:18458425-18520558 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 chr17:16808258-16821368 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 chr17:16757446-16804519 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 chr17:18456476-18473409 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 chr17:18515275-18561800 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 chr17:16808292-16821367 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-04 ISCA-46698 17q12 population region (DGV_Gold_Standard_June_2021_gssvL49126) 17q12 chr17:36182399-36224174 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 chr17:41227065-41240192 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 chr17:41272898-41277342 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 chr17:41266736-41274275 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 chr17:41228039-41236306 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 chr16:74354039-74425264 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 chr16:72054616-72082165 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 chr16:21500755-21584256 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 chr16:1239936-1245279 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 chr16:25054825-25126057 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 chr15:20939772-20958971 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 chr15:30195894-30503867 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 chr15:20183488-22002386 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 chr14:106349168-106358775 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 chr14:106691149-106708515 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 chr14:106370520-106394986 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 chr14:105651840-105679437 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 chr14:18685852-18693371 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 chr14:19867377-19955139 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 chr14:19722070-19958650 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 chr14:19722540-19957072 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 chr14:18685827-18693395 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 chr14:35136190-35146114 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 chr14:19010800-19832182 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 chr14:106717601-106728149 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 chr13:20960774-20966984 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 chr13:71902850-71915649 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 chr13:57194374-57212808 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 chr12:8208926-8239193 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 chr12:8405494-8443619 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 chr12:10428652-10444444 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 chr12:104975237-104980402 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 chr12:34202958-34208608 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 chr12:27495007-27501798 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 chr12:11072385-11088297 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 chr12:11074482-11098540 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 chr12:11039082-11065026 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 chr11:61198674-61252927 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 chr11:28985603-28990540 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 chr11:18918658-18942110 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 chr11:4234735-4257233 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 chr11:3218081-3339758 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 chr11:4947458-4959002 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 chr11:4234219-4256896 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 chr11:4242862-4288500 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 chr11:1894015-1915772 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 chr11:18920312-18943051 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 chr11:7788205-7813338 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 chr11:5852754-5862269 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 chr11:102880376-102882132 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 chr11:72139602-72178286 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46646 11q11 population region (DGV_Gold_Standard_June_2021_gssvL19045) 11q11 chr11:55666777-55676508 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46645 11q11 population region (DGV_Gold_Standard_June_2021_gssvL19042) 11q11 chr11:55678233-55690300 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 chr10:69523150-69531336 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 chr10:69521059-69531547 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 chr10:47502722-47586882 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 chr10:50101946-50240976 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 chr10:47074765-47282602 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 chr10:46160527-46226532 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 chr10:27349327-27353251 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46637 10p13 population region (DGV_Gold_Standard_June_2021_gssvL10668) 10p13 chr10:13217247-13218742 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46636 9q32 population region (DGV_Gold_Standard_June_2021_gssvG40321) 9q32 chr9:114316520-114335867 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 chr9:42606667-43163949 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46634 9p12 population region (DGV_Gold_Standard_June_2021_gssvL130637) 9p12 chr9:61230528-61334753 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46633 9p12 population region (DGV_Gold_Standard_June_2021_gssvL130619) 9p12 chr9:66946498-67116738 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 chr9:104600434-104606341 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 chr8:7355060-7369899 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 chr8:6971214-7020634 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 chr8:7253423-7300285 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 chr7:150589058-150610821 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46627 7q35 population region (DGV_Gold_Standard_June_2021_gssvL119429) 7q35 chr7:144183522-144378826 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46626 7q35 population region (DGV_Gold_Standard_June_2021_gssvG35898) 7q35 chr7:144187118-144233372 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 chr7:102328550-102381792 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46624 7q34 population region (DGV_Gold_Standard_June_2021_gssvL119381) 7q34 chr7:142753425-142767072 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46623 7q34 population region (DGV_Gold_Standard_June_2021_gssvL119380) 7q34 chr7:142752325-142774385 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 chr7:74963584-75065983 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 chr7:63502788-63519014 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 chr7:63226937-63263270 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 chr7:56995057-57020978 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 chr7:38346962-38358142 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 chr7:6861142-6883612 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-05 ISCA-46614 6q13 population region (DGV_Gold_Standard_June_2021_gssvG32691) 6q13 chr6:73999168-74007298 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-05 ISCA-46613 6q13 population region (DGV_Gold_Standard_June_2021_gssvG32688) 6q13 chr6:73998109-74008782 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 chr6:83824-202184 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 chr6:32659773-32680646 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 chr6:32549059-32573916 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 chr6:32508079-32546462 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 chr6:29869423-29881496 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 chr6:29924783-29938057 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 chr5:70020257-70047833 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 chr5:814331-825252 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 chr5:111570233-111575342 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 chr5:181164001-181169624 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 chr5:178921351-178926193 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 chr5:140717182-140724468 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46598 4p11 population region (DGV_Gold_Standard_June_2021_gssvG27527) 4p11 chr4:49487225-49522795 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 chr4:9416271-9455642 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 chr4:9485260-9514441 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46595 4p11 population region (DGV_Gold_Standard_June_2021_gssvL90109) 4p11 chr4:49175172-49247858 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 chr4:69269114-69404673 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 chr4:74416911-74457464 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46592 3q29 population region (DGV_Gold_Standard_June_2021_gssvG26791) 3q29 chr3:195649717-195766662 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 chr3:75518194-75532541 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 chr3:75373756-75595473 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46589 3q29 population region (DGV_Gold_Standard_June_2021_gssvL86947) 3q29 chr3:195653407-195742693 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 chr3:155760377-155780857 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 chr3:98168648-98200490 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 chr3:98159451-98204582 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 chr2:241930711-242070030 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 chr2:130036309-130065676 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 chr2:90121435-90124718 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 chr2:90005627-90022201 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 chr2:90210510-90237066 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 chr2:89159760-89213455 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 chr2:90005741-90063995 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 chr2:89967024-90013408 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46577 1q44 population region (DGV_Gold_Standard_June_2021_gssvL8958) 1q44 chr1:248592354-248595177 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46576 1q44 population region (DGV_Gold_Standard_June_2021_gssvL8766) 1q44 chr1:248593579-248634508 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46575 1q41 population region (DGV_Gold_Standard_June_2021_gssvL7905) 1q41 chr1:222199866-222208120 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 chr1:168055320-168056494 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 chr1:161600533-161628390 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 chr1:152582450-152602872 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 chr1:143713202-143723502 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 chr1:143657400-143709403 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 chr1:148383996-148441436 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 chr1:64374229-64386185 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 chr1:62188989-62191539 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 chr1:21986630-22009219 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 chr1:16682950-16686282 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 chr1:15826172-15829022 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 chr1:15825195-15829107 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 chr1:12839542-12864430 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 chr1:12826782-12882210 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 chr1:13366389-13447984 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 chr1:152789019-152801061 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 chr1:108374690-108457706 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 chr1:12837756-12862385 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 chr1:777659-820629 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 chr1:777659-820629 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 MONDO:0000508 ISCA-46552 Yq11.223 population region (gnomAD-SV_v2.1_DUP_Y_55057) Yq11.223 chrY:21878052-21923853 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 chrY:21495113-21551414 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-03 ISCA-46550 Xq28 population region (gnomAD-SV_v2.1_DEL_X_190964) Xq28 chrX:156008634-156019835 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46549 Xq28 population region (gnomAD-SV_v2.1_DEL_X_190749) Xq28 chrX:154246526-154256527 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46548 Xq28 population region (gnomAD-SV_v2.1_DEL_X_190688) Xq28 chrX:153072616-153082817 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 chrX:135831689-135847890 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 chrX:135779496-135786197 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-03 ISCA-46545 Xq24 population region (gnomAD-SV_v2.1_DEL_X_189263) Xq24 chrX:120943262-120986146 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 chrX:49574396-49592297 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 chrX:49564396-49578797 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 chrX:49528396-49554047 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 chrX:49331318-49342419 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 chrX:49319820-49329571 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 chr22:38962303-38992410 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 chr22:23982108-23992009 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 chr22:23973810-23980811 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 chr22:23931956-23969110 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 chr22:21207910-21215111 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 chr22:21324131-21329132 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 chr22:18601732-18607733 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 chr22:18516557-18521633 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 chr22:18751086-18759487 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 chr21:46161013-46162994 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 chr21:13640478-13662379 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 chr21:13622878-13628879 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 chr21:13608078-13613779 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 chr19:54856544-54861645 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 chr19:54849044-54858545 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 chr19:54803444-54812145 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 chr19:54790047-54812548 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 chr19:54781547-54786548 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 chr19:54774547-54781548 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 chr19:54766547-54776548 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 chr19:54763397-54770148 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 chr19:54745547-54777548 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 chr19:54740153-54745554 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 chr19:54739307-54755684 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 chr19:54734133-54739234 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 chr19:54297004-54303769 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 chr19:52812971-52820472 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 chr19:51631046-51645747 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 chr19:51624746-51636147 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 chr19:43196847-43211848 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 chr19:43196814-43260657 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 chr19:35360097-35372373 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 chr19:7019163-7060489 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 chr17:46560633-46575634 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 chr17:46326533-46332534 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 chr17:46323833-46341084 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 chr17:46321733-46328334 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 chr17:46304333-46309634 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 chr17:46291633-46302634 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 chr17:41375714-41383037 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 chr17:41265541-41275893 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 chr17:41227747-41238748 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 chr17:19111686-19150687 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 chr17:18426684-18561836 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 chr16:70060340-70209053 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 chr16:32644678-32790679 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 chr16:32008678-32084679 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 chr16:28753678-28760679 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 chr16:28703778-28759679 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 chr16:18321142-18327143 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 chr16:16235742-16270493 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 chr16:14689142-14759293 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 chr16:14688342-14711143 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 chr15:34434156-34580684 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46481 15q14 population region (gnomAD-SV_v2.1_DEL_15_146738) 15q14 chr15:34417925-34564356 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 chr15:32593998-32605799 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 chr15:32572798-32605799 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 chr15:32482798-32487799 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 chr15:32451798-32462899 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 chr15:32400798-32405799 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 chr15:32398573-32442049 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 chr15:30555746-30590897 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 chr15:30532996-30560897 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 chr15:30400796-30432997 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 chr15:30140795-30590897 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 chr15:30089745-30146297 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 chr15:20836720-20850971 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 chr15:20523935-20540286 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 chr14:23998790-24004791 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46466 12q12 population region (gnomAD-SV_v2.1_DEL_12_127735) 12q12 chr12:40480964-40482622 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 chr12:27495208-27502230 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 chr12:11073400-11098001 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 chr12:10429000-10435076 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 chr12:10428945-10444404 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 chr12:8208853-8238300 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 chr11:90029831-90050232 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 chr11:89786909-89923863 0 No evidence available 40 Dosage sensitivity unlikely 2021-08-09 ISCA-46458 11q11 population region (gnomAD-SV_v2.1_DEL_11_119564) 11q11 chr11:55596799-55676539 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-09 ISCA-46457 11q11 population region (gnomAD-SV_v2.1_DEL_11_119505) 11q11 chr11:55264126-55271064 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 chr11:7789628-7811831 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 chr11:5852758-5862263 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 chr11:4946516-4955428 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 chr10:79844743-79851044 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 chr10:50213439-50221540 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 chr10:50207439-50214640 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 chr10:50102239-50134890 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 chr10:50098539-50104840 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 chr10:50092089-50097640 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 chr10:50085939-50091040 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 chr10:50079939-50085340 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 chr10:73668724-73680225 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 chr10:46933236-46939112 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 chr10:47487361-47493362 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 chr10:47499361-47507162 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 chr10:46798971-46848972 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 chr10:50205831-50224757 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 chr10:50116898-50122299 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 chr10:50111946-50119097 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 chr10:50080601-50103402 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 chr10:46377639-46383340 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 chr10:48029382-48034483 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 chr10:48009306-48019507 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 chr10:46373069-46378170 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 chr10:46377769-46382770 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 chr10:45843151-45879552 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 chr10:45815201-45830352 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 chr10:17837946-17846047 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 chr10:17828846-17841147 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 chr10:17838000-17851801 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 chr10:17826000-17838001 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 chr9:136045003-136052654 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 chr9:107775253-107778314 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 chr9:41373825-41397601 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 chr9:41447948-41584416 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 chr9:64406506-64422682 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 chr9:64386331-64392782 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 chr9:64363081-64375807 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46418 9q13 population region (gnomAD-SV_v2.1_DEL_9_102391) 9q13 chr9:67887053-67919054 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-10 ISCA-46417 9q12 population region (gnomAD-SV_v2.1_DEL_9_102303) 9q12 chr9:39368304-39380305 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 chr9:41901558-41912138 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 chr9:41893458-41898459 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 chr9:41875633-41894584 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 chr9:67701487-67723488 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 chr9:67724915-67742791 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 chr9:42571218-42576319 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 chr9:42579118-42598119 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 chr9:42712222-42793523 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 chr9:42657618-42675119 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 chr9:67288703-67293954 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 chr9:61055297-61066848 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 chr9:61087440-61115941 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 chr9:61087440-61092841 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 chr9:67173745-67222796 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 chr9:67168889-67177290 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 chr9:67106870-67112071 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 chr9:67097078-67112079 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 chr9:67082041-67101042 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 chr9:61192272-61211173 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 chr9:61196784-61203785 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 chr9:61197782-61282783 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46395 9p12 population region (gnomAD-SV_v2.1_DEL_9_101967) 9p12 chr9:40218981-40229782 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46394 9p12 population region (gnomAD-SV_v2.1_DEL_9_101925) 9p12 chr9:60913727-60920728 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46393 9p12 population region (gnomAD-SV_v2.1_DEL_9_101915) 9p12 chr9:42187993-42193994 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 chr9:67289628-67296529 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 chr9:111999-126000 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 chr8:144256043-144278794 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 chr8:144257946-144277497 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 chr8:12433690-12453541 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 chr8:12394290-12439891 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 chr8:12104490-12110491 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 chr8:12046490-12068491 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 chr8:7948727-7954578 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 chr8:7941477-7966578 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 chr8:7887477-7896578 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 chr8:7879477-7885578 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 chr8:7878977-7906978 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 chr8:166099-179200 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 chr8:75899-83100 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46377 7q35 population region (gnomAD-SV_v2.1_DEL_7_87112) 7q35 chr7:143711906-143720407 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46376 7q34 population region (gnomAD-SV_v2.1_DEL_7_87016) 7q34 chr7:142065624-142094699 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-11 ISCA-46375 7q34 population region (gnomAD-SV_v2.1_DEL_7_87015) 7q34 chr7:142055193-142081179 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 chr7:102660552-102690553 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 chr7:99863767-99865939 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 chr7:75054892-75062193 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 chr7:75038895-75045096 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 chr7:75006833-75013834 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 chr7:74809162-74815663 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 chr7:65646085-65679086 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 chr7:6779368-6787569 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 chr7:5937368-5942369 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 chr7:5901368-5913369 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 chr5:181360998-181429999 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 chr5:180948131-181003626 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 chr5:140842551-140859346 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 chr5:71031172-71039873 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 chr5:71028672-71108173 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 chr5:71017172-71069273 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 chr5:70009572-70073273 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 chr4:74448523-74457524 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 chr4:74450282-74457283 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 chr4:69286321-69395616 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 chr4:69272345-69381447 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 chr4:69260763-69369641 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 chr4:69258281-69305582 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 chr4:69257932-69366619 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 chr3:75718848-75746849 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 chr2:132096003-132455990 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 chr2:131762426-131771427 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 chr2:130655226-130672427 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 chr2:130491326-130497027 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 chr2:130479426-130484427 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 chr2:130197365-130199814 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 chr2:130196426-130201427 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 chr2:87015076-87026477 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46341 1q44 population region (gnomAD-SV_v2.1_DEL_1_13898) 1q44 chr1:248643398-248656424 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46340 1q44 population region (gnomAD-SV_v2.1_DEL_1_13890) 1q44 chr1:248574698-248580699 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46339 1q44 population region (gnomAD-SV_v2.1_DEL_1_13889) 1q44 chr1:248567698-248634899 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46338 1q44 population region (gnomAD-SV_v2.1_DEL_1_13888) 1q44 chr1:248565698-248579699 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46337 1q44 population region (gnomAD-SV_v2.1_DEL_1_13885) 1q44 chr1:248549153-248594102 40 Dosage sensitivity unlikely 0 No evidence available 2021-08-06 ISCA-46336 1q44 population region (gnomAD-SV_v2.1_DUP_1_3816) 1q44 chr1:248456698-248483699 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 chr1:207535404-207544705 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 chr1:179486462-179489161 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 chr1:161559468-161641133 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 chr1:152788043-152798615 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 chr1:152583065-152615264 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 chr1:143902073-143911524 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 chr1:143874448-143938649 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 chr1:120900178-120910679 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 chr1:148459777-148510778 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 chr1:148087722-148158223 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 chr1:147961367-147982768 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 chr1:147017931-147080932 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 chr1:109687572-109711959 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 chr1:108380727-108453478 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 chr1:103648377-103760578 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 chr1:25328508-25334859 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 chr1:25317908-25323009 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 chr1:25313008-25323509 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 chr1:25304408-25309509 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 chr1:25287508-25294509 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 chr1:25267208-25283709 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 chr1:25266308-25324509 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 chr1:23957509-23964510 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 chr1:13040162-13049863 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 chr1:12929369-12939070 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 chr1:12890169-12906170 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 chr1:12836571-12870422 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 chr1:12835148-12880149 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 chr1:1709560-1715561 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 chr1:455336-493087 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 MONDO:0010283 ISCA-46303 SOX9 upstream enhancer region 17q24.3 chr17:69896855-71796293 3 Sufficient evidence for dosage pathogenicity 19234473 26663529 24934569 1 Little evidence for dosage pathogenicity 32583964 19639023 2021-06-07 MONDO:0007134 MONDO:0009869 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 MONDO:0010226 ISCA-46300 15q24 recurrent region (LCR C-LCR D) (includes SIN3A) 15q24 chr15:75339446-75680568 3 Sufficient evidence for dosage pathogenicity 27399968 22180641 0 No evidence available 2025-10-24 MONDO:0013256 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 MONDO:0020119 ISCA-46298 13q12.12 recurrent region (includes SACS, SGCG) 13q12.12 chr13:22970443-24307222 0 No evidence available 30767844 0 No evidence available 2024-04-18 ISCA-46297 16p12.2 recurrent region (distal, BP1-BP2) (includes OTOA) 16p12.2 chr16:21558792-21729102 30 Gene associated with autosomal recessive phenotype 40 Dosage sensitivity unlikely 2025-07-18 MONDO:0011762 ISCA-46296 15q24 recurrent region (LCR A-LCR C) 15q24.1-q24.2 chr15:72671374-75215971 3 Sufficient evidence for dosage pathogenicity 22180641 19921647 1 Little evidence for dosage pathogenicity 19557438 20860070 2025-10-24 ISCA-46295 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7, OTUD7A) 15q13.3 chr15:31727418-32153204 2 Some evidence for dosage pathogenicity 26095975 22775350 19898479 20236110 40 Dosage sensitivity unlikely 25217958 30767844 2026-02-11 MONDO:0100038 ISCA-46294 22q11.2 recurrent region (distal type III, D-G, D-H, E-H, F-H, or F-G) (includes SMARCB1) 22q11.23 chr22:23489015-24236853 3 Sufficient evidence for dosage pathogenicity 29215836 40794298 26278718 1 Little evidence for dosage pathogenicity 29147671 22140377 21671380 19193630 19006218 2025-12-08 ISCA-46291 7q11.23 recurrent distal region (includes HIP1, YWHAG) 7q11.23 chr7:75528718-76433859 2 Some evidence for dosage pathogenicity 21109226 35481155 16971481 1 Little evidence for dosage pathogenicity 21109226 27867344 2023-04-20 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 MONDO:0010428 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 2025-08-13 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 MONDO:0005072 ISCA-46285 15q13 recurrent region (BP3-BP4) (includes APBA2) 15q13.1-q13.2 chr15:28916886-30076787 1 Little evidence for dosage pathogenicity 21248749 25077648 28281572 19372089 18278044 0 No evidence available 17989066 2025-08-11 ISCA-37516 22q11.2 recurrent region (central, B-D or C-D) (includes CRKL) 22q11.21 chr22:20377696-21111383 2 Some evidence for dosage pathogenicity 39858619 25123976 26278718 36360320 29090080 28121514 1 Little evidence for dosage pathogenicity 30614210 29090080 19490635 30105124 22796526 18414210 2026-03-11 ISCA-37514 15q25.2q25.3 recurrent region (distal, LCR C-LCR D) 15q25.2-q25.3 chr15:84596421-85169770 1 Little evidence for dosage pathogenicity 23239641 0 No evidence available 2025-08-21 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 2025-11-14 MONDO:0013238 ISCA-37500 15q25.2 recurrent region (proximal, LCR-A/B-C) (includes RPS17) 15q25.2 chr15:82534140-84045981 3 Sufficient evidence for dosage pathogenicity 24352913 30503522 20301769 0 No evidence available 2025-07-17 ISCA-37498 11q13.2q13.4 recurrent region (includes SHANK2, FGFs) 11q13.2-q13.4 chr11:67996175-71525885 3 Sufficient evidence for dosage pathogenicity 28211979 21373257 0 No evidence available 2025-06-25 ISCA-37497 10q11.2 recurrent region (LCR C-LCR D) 10q11.22-q11.23 chr10:48181660-49845537 1 Little evidence for dosage pathogenicity 21948486 20466309 17531565 1 Little evidence for dosage pathogenicity 21948486 24669257 28846756 34207052 2022-10-12 ISCA-37496 2q13 recurrent region (distal) (includes BCL2L11) 2q13 chr2:110634616-112347165 2 Some evidence for dosage pathogenicity 29603867 26236398 26227573 1 Little evidence for dosage pathogenicity 29603867 26227573 24807792 2025-12-09 ISCA-37495 2q11.2 recurrent region (includes ARID5A, TMEM127) 2q11.2 chr2:96073264-97005692 3 Sufficient evidence for dosage pathogenicity 26227573 1 Little evidence for dosage pathogenicity 26227573 2022-02-21 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 MONDO:0010436 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 MONDO:0012869 ISCA-37488 22q11.2 recurrent region (distal type II, E-F) 22q11.22-q11.23 chr22:22776924-23306924 1 Little evidence for dosage pathogenicity 23765049 26278718 31837127 21278390 17351135 21948486 0 No evidence available 22140377 31543904 2026-03-16 ISCA-37486 16p11.2 recurrent region (distal, BP1-BP3, BP2-BP3, or BP1-BP4) (includes SH2B1) 16p11.2 chr16:28811314-29035178 3 Sufficient evidence for dosage pathogenicity 38605127 27240531 20808231 19966786 30767844 23325106 1 Little evidence for dosage pathogenicity 38605127 27240531 20808231 30803986 2026-03-18 MONDO:0013267 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 15q11.2q13 recurrent (PWS/AS) region (Class I, BP1-BP3 and Class II, BP2-BP3) 15q11.2-q13.1 chr15:23465365-28134728 3 Sufficient evidence for dosage pathogenicity 20301505 20301323 3 Sufficient evidence for dosage pathogenicity 27308687 2025-08-03 MONDO:0008300 MONDO:0012081 ISCA-37477 1 copy: 14q telomere; 3 copies: 14q telomere 14q32.3 chr14:105583663-106881350 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 chr2:241988449-242157305 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 MONDO:0008270 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 Region 14q32.2 chr14:100724515-100833215 3 Sufficient evidence for dosage pathogenicity 20585555 24801763 27406249 33579810 18176563 28640239 0 No evidence available 2024-09-13 MONDO:0100499 ISCA-37446 22q11.2 recurrent (DGS) region (proximal, A-B, A-C, or A-D) (includes TBX1) 22q11.21 chr22:18924718-21111383 3 Sufficient evidence for dosage pathogenicity 20301696 27189754 26278718 3 Sufficient evidence for dosage pathogenicity 20301749 36735193 34491614 34845825 2025-07-19 MONDO:0008564 MONDO:0012020 ISCA-37443 3q29 recurrent region (includes DLG1) 3q29 chr3:196029183-197617791 3 Sufficient evidence for dosage pathogenicity 27656750 33564151 25714563 1 Little evidence for dosage pathogenicity 32154651 33039685 29501613 18471269 2024-02-18 MONDO:0012269 MONDO:0012761 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 MONDO:0011073 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 MONDO:0011022 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 MONDO:0011669 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 MONDO:0010436 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 20301532 2025-09-12 MONDO:0008087 MONDO:0007309 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 MONDO:0011929 ISCA-37432 17q12 recurrent (RCAD syndrome) region (includes HNF1B) 17q12 chr17:36458167-37854616 3 Sufficient evidence for dosage pathogenicity 27929632 3 Sufficient evidence for dosage pathogenicity 26925472 30134084 27409573 26420380 2022-06-16 MONDO:0013797 MONDO:0013796 ISCA-37431 17q11.2 recurrent region (type-1, -2, or -3) (includes NF1) 17q11.2 chr17:30780079-31937008 3 Sufficient evidence for dosage pathogenicity 20301288 20513137 2 Some evidence for dosage pathogenicity 22241097 18183042 25205021 28605748 27629806 2025-12-03 MONDO:0013357 MONDO:0030032 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 MONDO:0009532 MONDO:0013182 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 MONDO:0008684 ISCA-37428 1q21.1 recurrent (TAR syndrome) region (proximal, BP1-BP3 or BP2-BP3) (includes RBM8A) 1q21.1 chr1:145686999-146048495 0 No evidence available 22317977 37881147 1 Little evidence for dosage pathogenicity 22317977 37357910 37881147 32655610 35835157 30767844 2025-06-13 MONDO:0010121 ISCA-37425 5q35 recurrent (Sotos syndrome) region (includes NSD1) 5q35.2-q35.3 chr5:176301976-177620792 3 Sufficient evidence for dosage pathogenicity 20301652 3 Sufficient evidence for dosage pathogenicity 24819041 33389145 2025-04-08 MONDO:0019349 ISCA-37424 10q22.3q23.2 recurrent region (includes BMPR1A) 10q22.3-q23.2 chr10:79923087-86979631 3 Sufficient evidence for dosage pathogenicity 31561016 24550761 28588438 21248748 23057600 1 Little evidence for dosage pathogenicity 21248748 26383923 22043167 2023-05-15 ISCA-37423 8p23.1 recurrent region (includes GATA4) 8p23.1 chr8:8242542-11908820 3 Sufficient evidence for dosage pathogenicity 20969981 23239632 19606479 2 Some evidence for dosage pathogenicity 26097203 21933911 23165946 2022-06-10 ISCA-37421 1q21.1 recurrent region (distal, BP3-BP4) (includes GJA5) 1q21.1-q21.2 chr1:147105904-147917509 3 Sufficient evidence for dosage pathogenicity 37881147 33576134 26066539 2 Some evidence for dosage pathogenicity 37881147 26066539 2024-10-04 MONDO:0012914 MONDO:0012915 ISCA-37420 17q21.31 recurrent (KdVS) region (includes KANSL1) 17q21.3 chr17:45627800-46087514 3 Sufficient evidence for dosage pathogenicity 20301783 26306646 1 Little evidence for dosage pathogenicity 24649381 19502243 26565673 22037486 2025-08-02 MONDO:0012496 ISCA-37418 17p11.2 recurrent (SMS/PLS) region (includes RAI1) 17p11.2 chr17:16906714-20309889 3 Sufficient evidence for dosage pathogenicity 20301487 20301695 37628566 3 Sufficient evidence for dosage pathogenicity 28837307 2025-10-10 MONDO:0008434 MONDO:0012574 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 MONDO:0010622 ISCA-37415 16p13.11 recurrent region (BP1-BP3, BP2-BP3, or BP2-BP4) (includes MYH11) 16p13.11 chr16:15417854-16198408 2 Some evidence for dosage pathogenicity 23637818 20398883 18550696 30767844 32697297 2 Some evidence for dosage pathogenicity 30767844 24352232 30287593 36724812 2024-08-16 ISCA-37411 15q13.3 recurrent region (BP3-BP5 or BP4-BP5) (includes CHRNA7) 15q13.3 chr15:30900686-32153204 3 Sufficient evidence for dosage pathogenicity 21290787 26095975 26963284 19289393 19136953 18278044 1 Little evidence for dosage pathogenicity 26095975 19372089 18805830 26997942 19289393 20506139 2026-02-11 MONDO:0012774 ISCA-37409 16p12.2 recurrent region (proximal) (includes EEF2K, CDR2) 16p12.2 chr16:21937124-22419483 2 Some evidence for dosage pathogenicity 30767844 24352232 20154674 30190612 0 No evidence available 30836598 2025-09-23 ISCA-37408 2p15p16.1 region (includes BCL11A) 2p15-p16.1 chr2:58912065-62261736 3 Sufficient evidence for dosage pathogenicity 16963482 18245392 22579565 36807877 1 Little evidence for dosage pathogenicity 22726847 26278498 29951117 29864511 37937284 2024-09-10 MONDO:0012916 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 MONDO:0012519 ISCA-37405 2q13 recurrent region (proximal) (includes NPHP1) 2q13 chr2:110104531-110228181 30 Gene associated with autosomal recessive phenotype 40 Dosage sensitivity unlikely 2025-07-19 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 MONDO:0008681 ISCA-37400 16p11.2 recurrent region (proximal, BP4-BP5) (includes TBX6) 16p11.2 chr16:29638676-30188531 3 Sufficient evidence for dosage pathogenicity 20301775 39257254 30767844 24352232 3 Sufficient evidence for dosage pathogenicity 38605127 26629640 21731881 27410714 30767844 24352232 2026-03-18 MONDO:0012756 MONDO:0013847 ISCA-37397 22q11.2 recurrent region (distal type I, D-E or D-F) 22q11.21-q11.22 chr22:21562828-22620608 3 Sufficient evidence for dosage pathogenicity 23765049 30524331 26247050 41360439 26141236 18179902 1 Little evidence for dosage pathogenicity 22140377 19193630 18414210 2026-03-16 MONDO:0012740 ISCA-37393 22q11.21 recurrent (CES) region (includes CECR2) 22q11.1-q11.21 chr22:16912063-18109094 0 No evidence available 16708226 3 Sufficient evidence for dosage pathogenicity 37974505 2025-12-08 MONDO:0007276 ISCA-37392 7q11.23 recurrent (Williams-Beuren syndrome) region (proximal) (includes ELN) 7q11.23 chr7:73330452-74728173 3 Sufficient evidence for dosage pathogenicity 20301427 3 Sufficient evidence for dosage pathogenicity 26610320 26333794 19249392 22369319 33187326 2026-02-03 MONDO:0008678 MONDO:0012342 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 MONDO:0007404