bio:sequence(aed:String) bio:start(aed:Integer) bio:end(aed:Integer) aed:name(aed:String) aed:value(aed:String) style:color(aed:Color) aed:modifiedBy(aed:String) aed:modified(aed:DateTime) affx:materialModifiedBy(aed:String) aed:reference(aed:URI) bio:cdsMax(aed:Integer) bio:cdsMin(aed:Integer) bed:score(aed:Integer) aed:counter(aed:Integer) affx:materialModified(aed:DateTime) bio:meanMarkerDistance(aed:Integer) bio:state(aed:Rational) bio:markerCount(aed:Integer) aed:note(aed:String) bio:precedingMarker(aed:String) bio:endMarker(aed:String) bio:meanWeightedLog2Ratio(aed:Rational) bio:meanLog2Ratio(aed:Rational) affx:interpreted(aed:DateTime) bio:followingMarkerLocation(aed:Integer) affx:interpretedBy(aed:String) bio:medianCn(aed:Rational) bio:precedingMarkerLocation(aed:Integer) bio:startMarker(aed:String) bio:medianLog2Ratio(aed:Rational) bio:followingMarker(aed:String) affx:interpretation(aed:String) namespace:affx(aed:URI) http://affymetrix.com/ontology/ namespace:bed(aed:URI) http://affymetrix.com/ontology/genome.ucsc.edu/bed/ affx:ucscGenomeVersion(aed:String) hg19 aed:application(aed:String) Chromosome Analysis Suite aed:created(aed:DateTime) 2025-08-01T00:28:29.903-05:00 aed:modified(aed:DateTime) 2026-03-18T08:43:47.664-05:00 chr1 144145783 144919024 BP1 rgb(0,0,0) jherriges:john 2018-05-17T15:12:57.028-05:00 jherriges:john 144919024 144145783 0 2018-05-17T15:12:57.028-05:00 chr1 144919024 145748064 1q21.1 recurrent (TAR syndrome) region (proximal, BP1-BP3) (includes RBM8A) rgb(255,111,0) jherriges:John 2025-11-14T10:20:24.285-06:00 jherriges:John https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37428 145748064 144919024 0 0 2025-11-14T10:20:24.285-06:00 857 3.0 966 C-4QQHV C-3XYIB 0.20388688 0.204022851 2021-12-13T22:42:00.127-06:00 145751822 204733:Erica Andersen 3.0 144915777 C-3VYXQ 0.199322045 C-6YTFK chr1 144919024 147394504 1q21.1 recurrent (TAR syndrome) region (proximal and distal, BP1-BP4) (includes RBM8A and GJA5) rgb(255,111,0) jherriges:John 2025-11-14T11:14:35.115-06:00 jherriges:John 147394504 144919024 0 0 2025-11-14T10:21:11.146-06:00 793 1.0 1056 "https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37428 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37421" chr1 145289115 145386506 BP2 rgb(0,0,0) jherriges:john 2018-05-17T15:12:57.028-05:00 jherriges:john 145386506 145289115 0 2018-05-17T15:12:57.028-05:00 chr1 145386507 145748064 1q21.1 recurrent (TAR syndrome) region (proximal, BP2-BP3) (includes RBM8A) rgb(255,111,0) jherriges:John 2025-08-01T00:31:32.246-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37428 145748064 145386507 0 0 2025-08-01T00:31:32.247-05:00 chr1 145748065 146577485 BP3 rgb(0,0,0) jherriges:john 2018-05-17T15:12:57.028-05:00 jherriges:john 146577485 145748065 0 2018-05-17T15:12:57.028-05:00 chr1 146577486 147394504 1q21.1 recurrent region (distal, BP3-BP4) (includes GJA5) rgb(255,111,0) jherriges:John 2025-08-01T00:31:46.909-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37421 147394504 146577486 0 0 2025-08-01T00:31:46.909-05:00 chr1 147394505 149847929 BP4 rgb(0,0,0) jherriges:john 2018-05-17T15:12:57.028-05:00 jherriges:john 149847929 147394505 0 2018-05-17T15:12:57.028-05:00 chr2 87061329 88295144 2p11.2 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:23:43.145-06:00 jherriges:John 88295144 87061329 0 0 2025-11-14T10:23:43.145-06:00 chr2 88295146 89057586 2p11.2 recurrent region (includes EIF2AK3, RPIA) rgb(255,111,0) jherriges:John 2025-11-14T10:22:06.961-06:00 jherriges:John https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46754 89057586 88295146 0 0 2025-08-01T00:33:22.304-05:00 chr2 89057588 90545103 2p11.2 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:23:51.240-06:00 jherriges:John 90545103 89057588 0 0 2025-11-14T10:23:51.240-06:00 chr2 96065168 96739011 2q11.2 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:23:18.547-06:00 jherriges:John 96739011 96065168 0 0 2025-11-14T10:23:18.547-06:00 chr2 96739012 97671429 2q11.2 recurrent region (includes ARID5A, TMEM127) rgb(255,111,0) jherriges:John 2025-08-01T00:32:20.834-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37495 97671429 96739012 0 0 2025-08-01T00:32:20.834-05:00 chr2 97671430 98259607 2q11.2 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:23:28.722-06:00 jherriges:John 98259607 97671430 0 0 2025-11-14T10:23:28.722-06:00 chr2 110488973 110862107 2q13 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:24:32.629-06:00 jherriges:John 110862107 110488973 0 0 2025-11-14T10:24:32.629-06:00 chr2 110862108 110983703 2q13 recurrent region (proximal) (includes NPHP1) rgb(255,111,0) jherriges:John 2025-08-01T00:32:36.340-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37405 110983703 110862108 0 0 2025-08-01T00:32:36.340-05:00 chr2 110983704 111392192 2q13 central breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:24:39.873-06:00 jherriges:John 111392192 110983704 0 0 2025-11-14T10:24:39.873-06:00 chr2 111392193 113104742 2q13 recurrent region (distal) (includes BCL2L11) rgb(255,111,0) jherriges:John 2025-08-01T00:32:57.449-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37496 113104742 111392193 0 0 2025-08-01T00:32:57.449-05:00 chr2 113104743 113207451 2q13 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:25:14.615-06:00 jherriges:John 113207451 113104743 0 0 2025-11-14T10:25:14.615-06:00 chr2 131158798 131477508 Proximal LCR2q21.1 rgb(0,0,0) jherriges:John 2025-08-01T00:33:34.301-05:00 jherriges:John 131477508 131158798 0 2025-08-01T00:33:34.301-05:00 chr2 131477509 131929693 2q21.1 recurrent region (includes ARHGEF4, GPR148) rgb(255,102,0) jherriges:John 2025-08-01T00:33:34.301-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46288 131929693 131477509 0 0 2025-08-01T00:33:34.301-05:00 chr2 131929695 133121634 Distal LCR2q21.1q21.2 rgb(0,0,0) jherriges:John 2025-08-01T00:33:34.301-05:00 jherriges:John 133121634 131929695 0 2025-08-01T00:33:34.301-05:00 chr3 195657041 195756053 3q29 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:25:39.028-06:00 jherriges:John 195756053 195657041 0 0 2025-11-14T10:25:39.028-06:00 chr3 195756054 197344662 3q29 recurrent region (includes DLG1) rgb(255,111,0) jherriges:John 2025-08-01T00:42:57.579-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37443 197344662 195756054 0 0 2025-08-01T00:42:57.579-05:00 chr3 197344663 197407424 3q29 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:25:50.827-06:00 jherriges:John 197407424 197344663 0 0 2025-11-14T10:25:50.828-06:00 chr5 175329459 175728978 SOS-PREP rgb(0,0,0) jherriges:john 2018-05-17T15:13:35.587-05:00 jherriges:john 175728978 175329459 0 2018-05-17T15:13:35.587-05:00 chr5 175728979 177047793 5q35 recurrent (Sotos syndrome) region (includes NSD1) rgb(255,111,0) jherriges:John 2025-08-01T00:43:24.510-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37425 177047793 175728979 0 0 2025-08-01T00:43:24.510-05:00 chr5 177047794 177532883 SOS-DREP rgb(0,0,0) jherriges:john 2018-05-17T15:13:35.587-05:00 jherriges:john 177532883 177047794 0 2018-05-17T15:13:35.587-05:00 chr7 72329872 72464302 LCR-C cen rgb(0,0,0) jherriges:John 2025-11-14T10:28:31.114-06:00 jherriges:John 72464302 72329872 0 0 2025-11-14T10:28:31.114-06:00 chr7 72464303 72568067 LCR-A cen rgb(0,0,0) jherriges:John 2025-11-14T10:28:37.316-06:00 jherriges:John 72568067 72464303 0 0 2025-11-14T10:28:37.316-06:00 chr7 72568068 72689055 LCR-B cen rgb(0,0,0) jherriges:John 2025-11-14T10:28:42.408-06:00 jherriges:John 72689055 72568068 0 0 2025-11-14T10:28:42.408-06:00 chr7 72709064 72744454 LCR-C mid rgb(0,0,0) jherriges:John 2026-02-06T11:38:57.916-06:00 jherriges:John 72744454 72709064 0 2026-02-06T11:38:57.916-06:00 chr7 72744455 74142510 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) rgb(255,111,0) jherriges:John 2025-08-01T00:43:54.688-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37392 74142510 72744455 0 0 2025-08-01T00:43:54.689-05:00 chr7 74142512 74267872 LCR-B mid rgb(0,0,0) jherriges:John 2026-02-06T11:38:57.916-06:00 jherriges:John 74267872 74142512 0 2026-02-06T11:38:57.916-06:00 chr7 74287434 74439064 LCR-A mid rgb(0,0,0) jherriges:John 2025-11-14T10:29:07.111-06:00 jherriges:John 74439064 74287434 0 0 2025-11-14T10:29:07.112-06:00 chr7 74508064 74653445 LCR-B tel rgb(0,0,0) jherriges:John 2025-11-14T10:29:11.658-06:00 jherriges:John 74653445 74508064 0 0 2025-11-14T10:29:11.658-06:00 chr7 74765725 74997064 LCR-A tel rgb(0,0,0) jherriges:John 2025-11-14T10:29:16.056-06:00 jherriges:John 74997064 74765725 0 0 2025-11-14T10:29:16.056-06:00 chr7 75024902 75115568 LCR-C tel rgb(0,0,0) jherriges:John 2025-11-14T10:29:21.335-06:00 jherriges:John 75115568 75024902 0 0 2025-11-14T10:29:21.336-06:00 chr7 75115570 76063176 7q11.23 recurrent distal region (includes HIP1, YWHAG) rgb(255,111,0) jherriges:John 2025-08-01T00:44:08.857-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46291 76063176 75115570 0 0 2025-08-01T00:44:08.857-05:00 chr7 76063178 76808971 7q11.23 distal region distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:30:17.522-06:00 jherriges:John 76808971 76063178 0 0 2025-11-14T10:30:17.522-06:00 chr8 6839960 8100063 REPD rgb(0,0,0) jherriges:john 2018-05-18T08:43:42.447-05:00 jherriges:john 8100063 6839960 0 2018-05-18T08:43:42.447-05:00 chr8 8100064 11766329 8p23.1 recurrent region (includes GATA4) rgb(255,111,0) jherriges:John 2025-08-01T00:44:35.450-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37423 11766329 8100064 0 0 2025-08-01T00:44:35.451-05:00 chr8 11766330 12573612 REPP rgb(0,0,0) jherriges:john 2018-05-18T08:43:24.039-05:00 jherriges:john 12573612 11766330 0 2018-05-18T08:43:24.039-05:00 chr10 46171743 46964579 LCR10q11.2A rgb(0,0,0) jherriges:john 2018-05-17T15:16:47.548-05:00 jherriges:john 46964579 46171743 0 2018-05-17T15:16:47.548-05:00 chr10 46964581 51584612 10q11.2 recurrent region (LCR A-LCR E) rgb(255,111,0) jherriges:John 2025-11-14T10:32:58.105-06:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37497 51584612 46964581 0 0 2025-08-07T10:47:07.841-05:00 1837 3.0 3072 S-4SIVA C-3SLCR 0.319638841 0.319638849 2025-08-06T18:36:51.465-05:00 51857207 jherriges:John 46215431 S-3BIYZ chr10 47149455 48300804 LCR10q11.2B rgb(0,0,0) jherriges:john 2018-05-17T15:16:47.548-05:00 jherriges:john 48300804 47149455 0 2018-05-17T15:16:47.548-05:00 chr10 48300805 51584611 10q11.2 recurrent region (LCR B-LCR E) rgb(255,111,0) jherriges:John 2025-11-14T10:33:05.205-06:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37497 51584611 48300805 0 0 2025-08-12T22:39:02.991-05:00 900 3.0 460 2025-08-06T18:36:51.465-05:00 jherriges:John chr10 48664304 49389702 LCR10q11.2C rgb(0,0,0) jherriges:john 2018-05-17T15:16:47.548-05:00 jherriges:john 49389702 48664304 0 2018-05-17T15:16:47.548-05:00 chr10 49389703 51053583 10q11.2 recurrent region (LCR C-LCR D) rgb(255,111,0) jherriges:John 2025-08-01T00:45:48.546-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37497 51053583 49389703 0 0 2025-08-01T00:45:48.546-05:00 chr10 49389704 52415117 10q11.2 recurrent region (LCR C-LCR F) rgb(255,111,0) jherriges:John 2025-11-14T10:33:17.220-06:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37497 52415117 49389704 0 0 2025-08-07T10:47:07.841-05:00 900 3.0 460 2025-08-06T18:36:51.465-05:00 jherriges:John chr10 51053584 51505365 LCR10q11.2D rgb(0,0,0) jherriges:john 2018-05-17T15:16:47.548-05:00 jherriges:john 51505365 51053584 0 2018-05-17T15:16:47.548-05:00 chr10 51584613 52000996 LCR10q11.2E rgb(0,0,0) jherriges:john 2018-05-17T15:16:47.548-05:00 jherriges:john 52000996 51584613 0 2018-05-17T15:16:47.548-05:00 chr10 52415118 52544109 LCR10q11.2F rgb(0,0,0) jherriges:john 2018-05-17T15:16:47.548-05:00 jherriges:john 52544109 52415118 0 2018-05-17T15:16:47.548-05:00 chr10 81390559 81682842 LCR-3 rgb(0,0,0) jherriges:john 2018-05-17T15:16:47.548-05:00 jherriges:john 81682842 81390559 0 2018-05-17T15:16:47.548-05:00 chr10 81682843 88739388 10q22.3q23.2 recurrent region (includes BMPR1A) rgb(255,111,0) jherriges:John 2025-08-01T00:46:00.888-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37424 88739388 81682843 0 0 2025-08-01T00:46:00.888-05:00 chr10 88739389 89260363 LCR-4 rgb(0,0,0) jherriges:john 2018-05-17T15:16:47.548-05:00 jherriges:john 89260363 88739389 0 2018-05-17T15:16:47.548-05:00 chr11 67474035 67763645 Proximal 11q-REP rgb(0,0,0) jherriges:John 2025-11-14T10:34:39.276-06:00 jherriges:John 67763645 67474035 0 0 2025-11-14T10:34:39.276-06:00 chr11 67763646 71236931 11q13.2q13.4 recurrent region (includes SHANK2, FGFs) rgb(255,111,0) jherriges:John 2025-08-01T00:46:23.628-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37498 71236931 67763646 0 0 2025-08-01T00:46:23.628-05:00 chr11 71236932 71624439 Distal 11q-REP rgb(0,0,0) jherriges:John 2025-11-14T10:34:44.715-06:00 jherriges:John 71624439 71236932 0 0 2025-11-14T10:34:44.715-06:00 chr13 23485730 23544581 13q12.12 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:35:15.402-06:00 jherriges:John 23544581 23485730 0 0 2025-11-14T10:35:15.402-06:00 chr13 23544582 24881361 13q12.12 recurrent region (includes SACS, SGCG) rgb(255,111,0) jherriges:John 2025-08-01T00:46:48.495-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46298 24881361 23544582 0 0 2025-08-01T00:46:48.495-05:00 chr13 24881362 25178626 13q12.12 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:35:22.604-06:00 jherriges:John 25178626 24881362 0 0 2025-11-14T10:35:22.604-06:00 chr15 21885008 22832518 BP1 rgb(0,0,0) jherriges:john 2018-05-17T15:12:40.948-05:00 jherriges:john 22832518 21885008 0 2018-05-17T15:12:40.948-05:00 chr15 22832519 23090897 15q11.2 recurrent region (BP1-BP2) (includes NIPA1) rgb(255,111,0) jherriges:John 2025-08-01T00:48:04.481-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37448 23090897 22832519 0 0 2025-08-01T00:48:04.481-05:00 chr15 22832519 28379875 15q11.2q13 recurrent (PWS/AS) region (Class I, BP1-BP3) rgb(255,111,0) jherriges:John 2025-11-14T11:29:00.696-06:00 jherriges:John https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37478 28379875 22832519 0 0 2025-11-14T11:29:00.696-06:00 chr15 22832519 30368990 15q11.2q13 recurrent (PWS/AS) region (BP1-BP4) rgb(255,111,0) jherriges:John 2025-08-07T10:47:22.488-05:00 jherriges:John 30368990 22832519 0 0 2025-08-07T10:47:22.488-05:00 chr15 23090898 23747995 BP2 rgb(0,0,0) jherriges:john 2018-05-17T15:12:40.948-05:00 jherriges:john 23747995 23090898 0 2018-05-17T15:12:40.948-05:00 chr15 23747996 28379875 15q11.2q13 recurrent (PWS/AS) region (Class II, BP2-BP3) rgb(255,111,0) jherriges:John 2025-11-14T11:29:06.952-06:00 jherriges:John https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37478 28379875 23747996 0 0 2025-11-14T11:29:06.952-06:00 chr15 23747997 30368990 15q11.2q13 recurrent (PWS/AS) region (BP2-BP4) rgb(255,111,0) jherriges:John 2025-08-07T10:47:22.488-05:00 jherriges:John 30368990 23747997 0 0 2025-08-07T10:47:22.488-05:00 chr15 28379876 29156958 BP3 rgb(0,0,0) jherriges:john 2018-05-17T15:12:40.948-05:00 jherriges:john 29156958 28379876 0 2018-05-17T15:12:40.948-05:00 chr15 29156959 30368990 15q13 recurrent region (BP3-BP4) (includes APBA2) rgb(255,111,0) jherriges:John 2025-08-01T00:48:32.548-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46285 30368990 29156959 0 0 2025-08-01T00:48:32.548-05:00 chr15 29156960 32445405 15q13.1q13.3 recurrent region (BP3-BP5) (includes CHRNA7) rgb(255,111,0) jherriges:John 2025-08-07T10:47:22.488-05:00 jherriges:John 32445405 29156960 0 0 2025-08-07T10:47:22.488-05:00 2025-08-06T18:37:26.895-05:00 jherriges:John chr15 30368991 31192888 BP4 rgb(0,0,0) jherriges:john 2018-05-17T15:12:40.948-05:00 jherriges:john 31192888 30368991 0 2018-05-17T15:12:40.948-05:00 chr15 31192889 32445405 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) rgb(255,111,0) jherriges:John 2025-08-01T00:48:53.089-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37411 32445405 31192889 0 0 2025-08-01T00:48:53.089-05:00 chr15 31909992 32019620 D-CHRNA7 LCR rgb(0,0,0) jherriges:john 2018-05-17T15:12:40.948-05:00 jherriges:john 32019620 31909992 0 2018-05-17T15:12:40.948-05:00 chr15 32019621 32445405 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7, OTUD7A) rgb(255,111,0) jherriges:John 2025-08-01T00:49:06.869-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46295 32445405 32019621 0 0 2025-08-01T00:49:06.869-05:00 chr15 32445406 32925115 BP5 rgb(0,0,0) jherriges:john 2018-05-17T15:12:40.948-05:00 jherriges:john 32925115 32445406 0 2018-05-17T15:12:40.948-05:00 chr15 32925116 34671001 15q13.3q14 recurrent region (BP5-BP6) (includes GREM1) rgb(255,102,0) jherriges:John 2025-08-01T00:50:05.898-05:00 jherriges:John https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46753 34671001 32925116 0 0 2025-08-01T00:49:35.045-05:00 2025-08-01T00:49:35.045-05:00 jherriges:John Not in ClinGen chr15 34671002 34932917 BP6 rgb(0,0,0) jherriges:john 2018-05-17T15:12:40.948-05:00 jherriges:john 34932917 34671002 0 2018-05-17T15:12:40.948-05:00 chr15 72897872 72963714 BP-A(BP-4) rgb(0,0,0) jherriges:john 2018-05-17T15:12:40.948-05:00 jherriges:john 72963714 72897872 0 2018-05-17T15:12:40.948-05:00 chr15 72963715 75508312 15q24 recurrent region (LCR A-LCR C) rgb(255,111,0) jherriges:John 2025-08-01T00:53:59.480-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46296 75508312 72963715 0 0 2025-08-01T00:53:59.480-05:00 chr15 72963715 75972909 15q24 recurrent region (LCR A-LCR D) (includes SIN3A) rgb(255,111,0) jherriges:John 2025-12-30T17:09:09.549-06:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46300 75972909 72963715 0 0 2025-08-12T22:52:41.001-05:00 chr15 72963716 74344086 15q24 recurrent region (LCR A-LCR B) rgb(255,111,0) jherriges:John 2025-08-07T10:47:22.488-05:00 jherriges:John 74344086 72963716 0 0 2025-08-07T10:47:22.488-05:00 chr15 74344087 74412641 BP-B(BP-1) rgb(0,0,0) jherriges:john 2018-05-17T15:12:40.948-05:00 jherriges:john 74412641 74344087 0 2018-05-17T15:12:40.948-05:00 chr15 74412643 75508312 15q24 recurrent region (LCR B-LCR C) rgb(255,111,0) jherriges:John 2025-08-12T22:44:53.888-05:00 jherriges:John 75508312 74412643 0 0 2025-08-12T22:44:53.888-05:00 chr15 74412643 75972909 15q24 recurrent region (LCR B-LCR D) (includes SIN3A) rgb(255,111,0) jherriges:John 2025-11-14T10:42:53.998-06:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46300 75972909 74412643 0 0 2025-08-07T10:47:22.488-05:00 chr15 74412643 78151251 15q24 recurrent region (LCR B-LCR E) (includes SIN3A) rgb(255,111,0) jherriges:John 2025-11-14T10:43:19.166-06:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46300 78151251 74412643 0 0 2025-08-07T10:47:22.488-05:00 chr15 75508313 75631786 BP-C rgb(0,0,0) jherriges:john 2018-05-17T15:12:40.948-05:00 jherriges:john 75631786 75508313 0 2018-05-17T15:12:40.948-05:00 chr15 75631787 75972909 15q24 recurrent region (LCR C-LCR D) (includes SIN3A) rgb(255,111,0) jherriges:John 2025-08-01T00:55:00.104-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46300 75972909 75631787 0 0 2025-08-01T00:55:00.104-05:00 chr15 75972910 76115250 BP-D(BP-2) rgb(0,0,0) jherriges:John 2025-11-14T11:31:56.496-06:00 jherriges:John 76115250 75972910 0 0 2025-11-14T11:31:56.496-06:00 chr15 76115252 78151251 15q24 recurrent region (LCR D-LCR E) rgb(255,111,0) jherriges:John 2025-08-07T10:47:22.488-05:00 jherriges:John 78151251 76115252 0 0 2025-08-07T10:47:22.488-05:00 chr15 78151252 78293175 BP-E(BP-3) rgb(0,0,0) jherriges:John 2025-11-14T11:32:04.082-06:00 jherriges:John 78293175 78151252 0 0 2025-11-14T11:32:04.082-06:00 chr15 82483353 82818882 LCR 15q25.2A rgb(0,0,0) jherriges:John 2025-11-14T10:44:57.661-06:00 jherriges:John 82818882 82483353 0 0 2025-11-14T10:44:57.661-06:00 chr15 82818884 84714733 15q25.2 recurrent region (proximal, LCR A/B-C) (includes RPS17) rgb(255,111,0) jherriges:John 2025-11-14T10:46:35.918-06:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37500 84714733 82818884 0 0 2025-11-14T10:46:35.918-06:00 chr15 82818885 85713001 15q25.2q25.3 recurrent region (proximal and distal, LCR A/B-D) (includes RPS17) rgb(255,111,0) jherriges:John 2025-11-14T11:39:25.700-06:00 jherriges:John 85713001 82818885 0 0 2025-11-14T11:39:25.700-06:00 "https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46300 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37514" chr15 82881696 83199985 LCR 15q25.2B rgb(0,0,0) jherriges:John 2025-11-14T10:45:08.413-06:00 jherriges:John 83199985 82881696 0 0 2025-11-14T10:45:08.413-06:00 chr15 83199987 84714733 15q25.2 recurrent region (proximal, LCR A/B-C) (includes RPS17) rgb(255,111,0) jherriges:John 2025-08-13T13:15:24.897-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37500 84714733 83199987 0 0 2025-08-13T13:15:24.897-05:00 chr15 83199988 85713001 15q25.2q25.3 recurrent region (proximal and distal, LCR A/B-D) (includes RPS17) rgb(255,111,0) jherriges:John 2025-11-14T11:39:17.101-06:00 jherriges:John 85713001 83199988 0 0 2025-11-14T11:39:17.101-06:00 "https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46300 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37514" chr15 84714734 85139651 LCR 15q25.2C rgb(0,0,0) jherriges:John 2025-11-14T10:45:03.292-06:00 jherriges:John 85139651 84714734 0 0 2025-11-14T10:45:03.292-06:00 chr15 85139652 85713001 15q25.2q25.3 recurrent region (distal, LCR C-D) rgb(255,111,0) jherriges:John 2025-08-01T00:55:55.811-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37514 85713001 85139652 0 0 2025-08-01T00:55:55.811-05:00 chr15 85713002 85832412 LCR 15q25.2D rgb(0,0,0) jherriges:John 2025-11-14T10:45:13.707-06:00 jherriges:John 85832412 85713002 0 0 2025-11-14T10:45:13.707-06:00 chr16 14781004 15124767 BP1 rgb(0,0,0) jherriges:john 2018-05-18T08:51:34.015-05:00 jherriges:john 15124767 14781004 0 2018-05-18T08:51:34.015-05:00 chr16 15124769 16292265 16p13.11 recurrent region (BP1-BP3) (includes MYH11) rgb(255,111,0) jherriges:John 2025-08-07T10:47:43.032-05:00 jherriges:John http://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_region.cgi?id=ISCA-37415 16292265 15124769 0 0 2025-08-07T10:47:43.032-05:00 902 2206 C-3ALBM C-6UWIQ 0.292722554 0.292619376 2025-08-06T18:39:14.736-05:00 16857605 jherriges:John 14781381 C-5EMAB S-4JDGP chr16 15124769 18167399 16p13.11 recurrent region (BP1-BP4) (includes MYH11) rgb(255,111,0) jherriges:John 2025-08-07T10:47:43.032-05:00 jherriges:John http://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_region.cgi?id=ISCA-37415 18167399 15124769 0 0 2025-08-07T10:47:43.032-05:00 902 2206 C-3ALBM C-6UWIQ 0.292722554 0.292619376 2025-08-06T18:39:14.736-05:00 16857605 jherriges:John 14781381 C-5EMAB S-4JDGP chr16 15156252 15511710 BP2 rgb(0,0,0) jherriges:john 2018-05-17T15:34:24.136-05:00 jherriges:john 15511710 15156252 0 2018-05-17T15:34:24.136-05:00 chr16 15511711 16292265 16p13.11 recurrent region (BP2-BP3) (includes MYH11) rgb(255,111,0) jherriges:John 2025-08-01T08:06:38.607-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37415 16292265 15511711 0 0 2025-08-01T08:06:38.607-05:00 chr16 15511712 18167399 16p13.11 recurrent region (BP2-BP4) (includes MYH11) rgb(255,111,0) jherriges:John 2025-08-07T10:47:43.032-05:00 jherriges:John http://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_region.cgi?id=ISCA-37415 18167399 15511712 0 0 2025-08-07T10:47:43.032-05:00 902 2206 C-3ALBM C-6UWIQ 0.292722554 0.292619376 2025-08-06T18:39:14.735-05:00 16857605 jherriges:John 14781381 C-5EMAB S-4JDGP chr16 16292266 16856795 BP3 rgb(0,0,0) jherriges:john 2018-05-17T15:34:24.136-05:00 jherriges:john 16856795 16292266 0 2018-05-17T15:34:24.136-05:00 chr16 16856797 18167399 16p12.3 recurrent region (BP3-BP4) (includes XYLT1) rgb(255,102,0) jherriges:John 2025-08-01T08:07:59.681-05:00 jherriges:John https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46755 18167399 16856797 0 0 2025-08-01T08:07:59.681-05:00 902 2206 C-3ALBM C-6UWIQ 0.2927225543693235 0.29261937560351076 2025-08-01T08:07:59.681-05:00 16857605 jherriges:John 14781381 C-5EMAB S-4JDGP Unknown chr16 18167400 18793801 BP4 rgb(0,0,0) jherriges:john 2018-05-17T15:34:24.136-05:00 jherriges:john 18793801 18167400 0 0 2018-05-17T15:34:24.136-05:00 chr16 21353861 21570112 16p12.2 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:49:38.504-06:00 jherriges:John 21570112 21353861 0 0 2025-11-14T10:49:38.504-06:00 chr16 21570113 21740423 16p12.2 recurrent region (distal, BP1-BP2) (includes OTOA) rgb(255,111,0) jherriges:John 2025-08-01T08:05:53.140-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46297 21740423 21570113 0 0 2025-08-01T08:05:53.140-05:00 chr16 21570114 29350607 16p12.2p11.2 recurrent region (includes PALB2) rgb(255,111,0) jherriges:John 2025-08-07T10:47:43.032-05:00 jherriges:John 29350607 21570114 0 0 2025-08-07T10:47:43.032-05:00 chr16 21740424 21948444 16p12.2 central breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:49:48.415-06:00 jherriges:John 21948444 21740424 0 0 2025-11-14T10:49:48.415-06:00 chr16 21948445 22430804 16p12.2 recurrent region (proximal, BP2-BP3) (includes EEF2K, CDR2) rgb(255,111,0) jherriges:John 2025-08-01T08:06:14.066-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37409 22430804 21948445 0 0 2025-08-01T08:06:14.066-05:00 chr16 22430805 22625259 16p12.2 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:49:57.263-06:00 jherriges:John 22625259 22430805 0 0 2025-11-14T10:49:57.263-06:00 chr16 28338968 28483213 BP1 rgb(0,0,0) jherriges:john 2018-05-17T15:34:24.136-05:00 jherriges:john 28483213 28338968 0 2018-05-17T15:34:24.136-05:00 chr16 28483215 29350607 16p11.2 recurrent region (distal, BP1-BP4) (includes SH2B1) rgb(255,111,0) jherriges:John 2026-02-06T11:18:20.339-06:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37486 29350607 28483215 0 0 2026-02-06T11:09:18.552-06:00 chr16 28483215 29046499 16p11.2 recurrent region (distal, BP1-BP3) (includes SH2B1) rgb(255,111,0) jherriges:John 2026-03-18T08:43:47.499-05:00 jherriges:John https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37486 29046499 28483215 0 0 2026-03-18T08:43:47.500-05:00 chr16 28483215 30199852 16p11.2 recurrent region (proximal and distal, BP1-BP5) (includes SH2B1 and TBX6) rgb(255,111,0) jherriges:John 2025-08-07T10:47:43.032-05:00 jherriges:John 30199852 28483215 0 0 2025-08-07T10:47:43.032-05:00 1822 1.0 462 2025-08-06T18:39:14.736-05:00 jherriges:John chr16 28602133 28822634 BP2 rgb(0,0,0) jherriges:john 2018-05-17T15:34:24.136-05:00 jherriges:john 28822634 28602133 0 2018-05-17T15:34:24.136-05:00 chr16 28822635 29046499 16p11.2 recurrent region (distal, BP2-BP3) (includes SH2B1) rgb(255,111,0) jherriges:John 2025-08-01T08:05:09.809-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37486 29046499 28822635 0 0 2025-08-01T08:05:09.809-05:00 chr16 29046500 29112499 BP3 rgb(0,0,0) jherriges:john 2018-05-17T15:34:24.136-05:00 jherriges:john 29112499 29046500 0 2018-05-17T15:34:24.136-05:00 chr16 29350608 29649996 BP4 rgb(0,0,0) jherriges:john 2018-05-17T15:34:24.136-05:00 jherriges:john 29649996 29350608 0 2018-05-17T15:34:24.136-05:00 chr16 29649997 30199852 16p11.2 recurrent region (proximal, BP4-BP5) (includes TBX6) rgb(255,111,0) jherriges:John 2025-08-01T08:04:53.944-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37400 30199852 29649997 0 0 2025-08-01T08:04:53.944-05:00 chr16 30199853 30354779 BP5 rgb(0,0,0) jherriges:john 2018-05-18T08:56:49.781-05:00 jherriges:john 30354779 30199853 0 2018-05-18T08:56:49.781-05:00 chr17 13923279 14097914 Distal CMT1A-Rep rgb(0,0,0) jherriges:John 2025-11-14T10:52:19.359-06:00 jherriges:John 14097914 13923279 0 0 2025-11-14T10:52:19.359-06:00 chr17 14097915 15422952 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) rgb(255,111,0) jherriges:John 2025-08-01T08:04:02.331-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37436 15422952 14097915 0 0 2025-08-01T08:04:02.331-05:00 chr17 15422953 15796452 Proximal CMT1A-Rep/LCR17pA rgb(0,0,0) jherriges:John 2025-11-14T10:52:25.647-06:00 jherriges:John 15796452 15422953 0 0 2025-11-14T10:52:25.647-06:00 chr17 16559586 16810027 LCR17P-E/SMS-REP Distal rgb(0,0,0) jherriges:John 2025-11-14T10:53:08.847-06:00 jherriges:John 16810027 16559586 0 0 2025-11-14T10:53:08.848-06:00 chr17 16810028 20213202 17p11.2 recurrent (SMS/PLS) region (includes RAI1) rgb(255,111,0) jherriges:John 2025-08-01T08:04:13.692-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37418 20213202 16810028 0 0 2025-08-01T08:04:13.692-05:00 chr17 16810029 18278941 17p11.2 recurrent region (REPD-REPM) (includes RAI1) rgb(255,111,0) jherriges:John 2025-08-07T10:47:55.576-05:00 jherriges:John http://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_region.cgi?id=ISCA-37418 18278941 16810029 0 0 2025-08-07T10:47:55.576-05:00 chr17 16898810 16934738 LCR17pF rgb(0,0,0) jherriges:john 2018-05-18T10:06:10.251-05:00 jherriges:john 16934738 16898810 0 2018-05-18T10:06:10.251-05:00 chr17 18278942 18751409 SMS-REP Middle/LCR17pB rgb(0,0,0) jherriges:John 2025-11-14T10:53:21.200-06:00 jherriges:John 18751409 18278942 0 0 2025-11-14T10:53:21.200-06:00 chr17 18923968 19140822 RNU3 LCRs rgb(0,0,0) jherriges:John 2025-11-14T10:53:29.232-06:00 jherriges:John 19140822 18923968 0 0 2025-11-14T10:53:29.232-06:00 chr17 20213203 20810293 SMS-REP Proximal/LCR17pC,D,G rgb(0,0,0) jherriges:John 2025-11-14T10:53:42.614-06:00 jherriges:John 20810293 20213203 0 0 2025-11-14T10:53:42.614-06:00 chr17 28877665 29036624 NF1 REP A rgb(0,0,0) jherriges:John 2025-11-14T10:54:41.174-06:00 jherriges:John 29036624 28877665 0 0 2025-11-14T10:54:41.174-06:00 chr17 29036625 29097068 SUZ12P1 rgb(0,0,0) jherriges:john 2018-05-17T15:17:47.163-05:00 jherriges:john 29097068 29036625 0 2018-05-17T15:17:47.163-05:00 chr17 29036625 30328268 17q11.2 recurrent region (Type 1, REPA-REPC) (includes NF1) rgb(255,111,0) jherriges:John 2025-11-14T10:56:16.424-06:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37431 30328268 29036625 0 0 2025-11-14T10:56:16.424-06:00 chr17 29097069 30264027 17q11.2 recurrent region (Type 2, SUZ12P1-SUZ12) (includes NF1) rgb(255,111,0) jherriges:John 2025-11-14T10:55:54.978-06:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37431 30264027 29097069 0 0 2025-11-14T10:55:54.978-06:00 chr17 29335354 29378228 NF1 Rep B rgb(0,0,0) jherriges:john 2018-05-17T15:17:47.163-05:00 jherriges:john 29378228 29335354 0 2018-05-17T15:17:47.163-05:00 chr17 29378229 30328268 17q11.2 recurrent region- (Type 3, REPB-REPC) (includes NF1) rgb(255,111,0) jherriges:John 2025-11-14T10:56:50.374-06:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37431 30328268 29378229 0 0 2025-11-14T10:56:50.374-06:00 chr17 30264028 30328064 SUZ12 rgb(0,0,0) jherriges:john 2018-05-17T15:17:47.163-05:00 jherriges:john 30328064 30264028 0 2018-05-17T15:17:47.163-05:00 chr17 30328269 30447065 NF1 REP C rgb(0,0,0) jherriges:John 2025-11-14T10:54:52.527-06:00 jherriges:John 30447065 30328269 0 0 2025-11-14T10:54:52.527-06:00 chr17 34405991 34815071 17q12 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:57:19.304-06:00 jherriges:John 34815071 34405991 0 0 2025-11-14T10:57:19.304-06:00 chr17 34815072 36192489 17q12 recurrent (RCAD syndrome) region (includes HNF1B) rgb(255,111,0) jherriges:John 2025-08-01T08:02:16.514-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37432 36192489 34815072 0 0 2025-08-01T08:02:16.514-05:00 chr17 36192490 36470869 17q12 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:57:26.975-06:00 jherriges:John 36470869 36192490 0 0 2025-11-14T10:57:26.975-06:00 chr17 43492292 43705165 17q21.31 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:58:02.289-06:00 jherriges:John 43705165 43492292 0 0 2025-11-14T10:58:02.289-06:00 chr17 43705166 44164880 17q21.31 recurrent (KdVS) region (includes KANSL1) rgb(255,111,0) jherriges:John 2025-11-14T10:59:13.757-06:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37420 44164880 43705166 0 0 2025-11-14T10:59:13.757-06:00 chr17 44164881 44784489 17q21.31 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:58:09.544-06:00 jherriges:John 44784489 44164881 0 0 2025-11-14T10:58:09.544-06:00 chr17 58000000 58113001 17q23.1q23.2 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T10:59:54.738-06:00 jherriges:John 58113001 58000000 0 0 2025-11-14T10:59:54.738-06:00 chr17 58113002 60275809 17q23.1q23.2 recurrent region (includes TBX2, TBX4) rgb(255,111,0) jherriges:John 2025-08-01T07:59:33.308-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37501 60275809 58113002 0 0 2025-08-01T07:59:33.308-05:00 chr17 60275810 60375823 17q23.1q23.2 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:00:02.129-06:00 jherriges:John 60375823 60275810 0 0 2025-11-14T11:00:02.129-06:00 chr22 17392953 18642490 22q11.21 recurrent (CES) region (includes CECR2) rgb(255,111,0) jherriges:John 2025-08-01T07:47:55.688-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37393 18642490 17392953 0 0 2025-08-01T07:47:55.688-05:00 chr22 18642491 18912230 BP-A (BP-2) rgb(0,0,0) jherriges:John 2025-11-14T11:04:31.274-06:00 jherriges:John 18912230 18642491 0 0 2025-11-14T11:04:31.274-06:00 chr22 18912231 20287208 22q11.2 recurrent (DGS) region (proximal, A-B) (includes TBX1) rgb(255,111,0) jherriges:John 2025-08-13T13:12:30.130-05:00 jherriges:John https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37446 20287208 18912231 0 0 2025-08-01T07:48:48.539-05:00 chr22 18912231 21011947 22q11.2 recurrent (DGS) region (proximal, A-C) (includes TBX1) rgb(255,102,0) jherriges:John 2025-08-01T07:49:05.721-05:00 jherriges:John https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37446 21011947 18912231 0 0 2025-08-01T07:49:05.721-05:00 chr22 18912231 21465672 22q11.2 recurrent (DGS) region (proximal, A-D) (includes TBX1) rgb(255,111,0) jherriges:John 2025-08-01T07:48:36.005-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37446 21465672 18912231 0 0 2025-08-01T07:48:36.006-05:00 chr22 20287209 20731985 BP-B (BP-3a) rgb(0,0,0) jherriges:John 2025-11-14T11:04:36.738-06:00 jherriges:John 20731985 20287209 0 0 2025-11-14T11:04:36.738-06:00 chr22 20731986 21465672 22q11.2 recurrent region (central, B-D) (includes CRKL) rgb(255,111,0) jherriges:John 2025-08-01T07:53:02.118-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37516 21465672 20731986 0 0 2025-08-01T07:53:02.119-05:00 chr22 21011948 21092337 BP-C (BP-3c) rgb(0,0,0) jherriges:John 2025-11-14T11:04:47.808-06:00 jherriges:John 21092337 21011948 0 0 2025-11-14T11:04:47.808-06:00 chr22 21092338 21465672 22q11.2 recurrent region (central, C-D) (includes CRKL) rgb(255,111,0) jherriges:John 2025-08-01T07:53:26.515-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37516 21465672 21092338 0 0 2025-08-01T07:53:26.515-05:00 chr22 21092339 22963077 22q11.2 recurrent region (C-E) (includes CRKL) rgb(255,111,0) jherriges:John 2025-08-07T10:48:17.261-05:00 jherriges:John 22963077 21092339 0 0 2025-08-07T10:48:17.261-05:00 chr22 21465673 21917116 BP-D (BP-4) rgb(0,0,0) jherriges:John 2025-11-14T11:04:55.625-06:00 jherriges:John 21917116 21465673 0 0 2025-11-14T11:04:55.626-06:00 chr22 21917117 22963077 22q11.2 recurrent region (distal type I, D-E) rgb(255,111,0) jherriges:John 2025-08-01T07:57:14.559-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37397 22963077 21917117 0 0 2025-08-01T07:57:14.559-05:00 chr22 21917117 23649111 22q11.2 recurrent region (distal type I, D-F) rgb(255,111,0) jherriges:John 2025-08-01T07:56:50.125-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37397 23649111 21917117 0 0 2025-08-01T07:56:50.126-05:00 chr22 21917117 24994433 22q11.2 recurrent region (distal type III, D-H) (includes SMARCB1) rgb(255,111,0) jherriges:John 2025-11-14T11:08:30.495-06:00 jherriges:John https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46294 24994433 21917117 0 0 2025-08-07T09:44:25.359-05:00 chr22 21917118 24632821 22q11.2 recurrent region (distal type III, D-G) (includes SMARCB1) rgb(255,111,0) jherriges:John 2025-11-14T11:09:09.274-06:00 jherriges:John https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46294 24632821 21917118 0 0 2025-11-14T11:09:09.274-06:00 chr22 22963078 23119413 BP-E (BP-5) rgb(0,0,0) jherriges:John 2025-11-14T11:07:38.107-06:00 jherriges:John 23119413 22963078 0 0 2025-11-14T11:07:38.107-06:00 chr22 23119414 23649111 22q11.2 recurrent region (distal type II, E-F) rgb(255,111,0) jherriges:John 2025-08-01T07:57:38.615-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37488 23649111 23119414 0 0 2025-08-01T07:57:38.615-05:00 chr22 23119415 24994433 22q11.2 recurrent region (distal type III, E-H) (includes SMARCB1) rgb(255,111,0) jherriges:John 2025-11-14T11:09:30.732-06:00 jherriges:John https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46294 24994433 23119415 0 0 2025-11-14T11:09:30.732-06:00 1666 1.0 1268 2025-08-06T18:41:31.149-05:00 jherriges:John chr22 23649112 23831201 BP-F (BP-6) rgb(0,0,0) jherriges:John 2025-11-14T11:07:44.835-06:00 jherriges:John 23831201 23649112 0 0 2025-11-14T11:07:44.835-06:00 chr22 23831202 24632821 22q11.2 recurrent region (distal type III, F-G) (includes SMARCB1) rgb(255,111,0) jherriges:John 2025-08-01T07:57:56.938-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46294 24632821 23831202 0 0 2025-08-01T07:57:56.938-05:00 chr22 23831203 24994433 22q11.2 recurrent region (distal type III, F-H) (includes SMARCB1) rgb(255,111,0) jherriges:John 2025-11-14T11:09:37.138-06:00 jherriges:John https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46294 24994433 23831203 0 0 2025-11-14T11:09:37.138-06:00 chr22 24632822 24697086 BP-G (BP-7) rgb(0,0,0) jherriges:John 2025-11-14T11:07:52.241-06:00 jherriges:John 24697086 24632822 0 0 2025-11-14T11:07:52.241-06:00 chr22 24994434 25089103 BP-H (BP-8) rgb(0,0,0) jherriges:John 2025-11-14T11:07:57.667-06:00 jherriges:John 25089103 24994434 0 0 2025-11-14T11:07:57.667-06:00 chrX 6445605 6455811 Xp22.31 distal breakpoint rgb(0,0,0) jherriges:john 2018-05-17T15:18:37.932-05:00 jherriges:john 6455811 6445605 0 2018-05-17T15:18:37.932-05:00 chrX 6455812 8124954 Xp22.31 recurrent region (includes STS) rgb(255,111,0) jherriges:John 2025-08-01T07:46:37.745-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37417 8124954 6455812 0 0 2025-08-01T07:46:37.746-05:00 chrX 8124955 8149387 Xp22.31 proximal breakpoint rgb(0,0,0) jherriges:john 2018-05-17T15:18:37.932-05:00 jherriges:john 8149387 8124955 0 2018-05-17T15:18:37.932-05:00 chrX 47962466 48306151 D-REP rgb(0,0,0) jherriges:john 2018-05-17T15:18:37.932-05:00 jherriges:john 48306151 47962466 0 2018-05-17T15:18:37.932-05:00 chrX 48306152 52103258 Xp11.22p11.23 recurrent region (includes SHROOM4) rgb(255,111,0) jherriges:John 2025-08-01T07:46:57.486-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46290 52103258 48306152 0 0 2025-08-01T07:46:57.487-05:00 chrX 49156988 49369395 M-REP rgb(0,0,0) jherriges:john 2018-08-31T10:13:57.226-05:00 jherriges:john 49369395 49156988 0 2018-08-31T10:13:57.226-05:00 chrX 52103259 53006000 P-REP rgb(0,0,0) jherriges:john 2018-05-17T15:18:37.932-05:00 jherriges:john 53006000 52103259 0 2018-05-17T15:18:37.932-05:00 chrX 153564285 153624563 LCR K1/2 rgb(0,0,0) jherriges:John 2025-11-14T11:01:41.930-06:00 jherriges:John 153624563 153564285 0 0 2025-11-14T11:01:41.930-06:00 chrX 153624564 153783898 Xq28 recurrent region (includes GDI1) rgb(255,111,0) jherriges:John 2025-08-01T07:47:16.569-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37439 153783898 153624564 0 0 2025-08-01T07:47:16.569-05:00 chrX 153783899 153882800 LCR L1/2 rgb(0,0,0) jherriges:John 2025-11-14T11:01:46.679-06:00 jherriges:John 153882800 153783899 0 0 2025-11-14T11:01:46.679-06:00 chrX 154109089 154118602 Int22h-1 rgb(0,0,0) jherriges:john 2018-05-17T15:18:37.932-05:00 jherriges:john 154118602 154109089 0 2018-05-17T15:18:37.932-05:00 chrX 154118603 154564401 Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) rgb(255,111,0) jherriges:John 2025-08-01T07:47:32.538-05:00 jherriges:John https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37494 154564401 154118603 0 0 2025-08-01T07:47:32.539-05:00 chrX 154564402 154616376 Int22h-2/Palindrome rgb(0,0,0) jherriges:john 2018-05-17T15:18:37.932-05:00 jherriges:john 154616376 154564402 0 2018-05-17T15:18:37.932-05:00 chrX 154683643 154734211 Int22h-3/Palindrome rgb(0,0,0) jherriges:john 2018-05-17T15:18:37.932-05:00 jherriges:john 154734211 154683643 0 2018-05-17T15:18:37.932-05:00