#ClinGen Region Curation Results #16 May,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-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-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-Hirshhorn 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 2016-04-07 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