"See cases"[Disease/phenotype] AND "ISCA site 14"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160923	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	ACAP3, AGRN +244 more	Copy number loss	See cases	GPathogenic
Select item 57720	GRCh38/hg38 1p36.22(chr1:10637036-11293430)x3	ANGPTL7, C1orf127 +43 more	Copy number gain	See cases	GUncertain significance
Select item 59357	GRCh38/hg38 1p36.11(chr1:25258106-25441156)x1	LOC122056798, LOC129388471 +10 more	Copy number loss	See cases	GUncertain significance
Select item 160935	GRCh38/hg38 1p35.2(chr1:30116821-30696608)x1	LOC126805678, LOC126805679 +5 more	Copy number loss	See cases	GUncertain significance
Select item 57755	GRCh38/hg38 1p32.2(chr1:57536618-58204064)x3	DAB1, DAB1-AS1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 57787	GRCh38/hg38 1p21.3(chr1:97417705-97919058)x3	DPYD, DPYD-AS2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 160925	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ANKRD35, LIX1L +143 more	Copy number gain	See cases	GPathogenic
Select item 160936	GRCh38/hg38 1q21.1(chr1:145601946-146009630)x3	ANKRD34A, ANKRD35 +43 more	Copy number gain	See cases	GUncertain significance
Select item 160926	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1	ACP6, BCL9 +53 more	Copy number loss	See cases	GPathogenic
Select item 160792	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1	TRH-GTG1-2, TRH-GTG1-3 +53 more	Copy number loss	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	IER5, IVNS1ABP +560 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 57848	GRCh38/hg38 1q43(chr1:240553438-242475553)x3	BECN2, CHML +29 more	Copy number gain	See cases	GUncertain significance
Select item 59395	GRCh38/hg38 1q43-44(chr1:243264206-243716856)x1	AKT3, LOC110120698 +7 more	Copy number loss	See cases	GUncertain significance
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	ADSS2, AHCTF1 +226 more	Copy number loss	See cases	GPathogenic
Select item 60010	GRCh37/hg19 1q21.1(chr1:144810725-146858488)x1	ANKRD34A, ANKRD35 +23 more	Copy number loss	See cases	GPathogenic
Select item 60142	GRCh38/hg38 2p16.3(chr2:50710306-51087292)x1	LOC730100, NRXN1	Copy number loss	See cases	GPathogenic
Select item 58870	GRCh38/hg38 2p16.1-15(chr2:60009106-62006709)x3	BCL11A, C2orf74 +96 more	Copy number gain	See cases	GUncertain significance
Select item 59790	GRCh38/hg38 2p11.2(chr2:86797744-87705899)x3	CD8A, CD8B +14 more	Copy number gain	See cases	GBenign
Select item 57543	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1	ADRA2B, ANKRD23 +126 more	Copy number loss	See cases	GPathogenic
Select item 60183	GRCh38/hg38 2q11.2(chr2:98787057-100785053)x1	AFF3, C2orf15 +56 more	Copy number loss	See cases	GPathogenic
Select item 57545	GRCh38/hg38 2q13(chr2:110025659-110371270)x0	LOC129934555, LOC129934556 +10 more	Copy number loss	See cases	GPathogenic
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	MBD5, MIR4773-1 +119 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 58937	GRCh38/hg38 2q37.2(chr2:234731742-235717851)x3	AGAP1, AGAP1-IT1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	AGXT, ANKMY1 +251 more	Copy number loss	See cases	GPathogenic
Select item 58938	GRCh38/hg38 2q37.3(chr2:237643996-238287366)x3	ERFE, ESPNL +42 more	Copy number gain	See cases	GUncertain significance
Select item 57122	GRCh38/hg38 3p26.3(chr3:1450978-2754945)x3	CNTN4, CNTN4-AS2 +8 more	Copy number gain	See cases	GUncertain significance
Select item 60049	GRCh38/hg38 3p26.3-26.2(chr3:2301168-3219257)x1	CNTN4, CNTN4-AS1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 57695	GRCh38/hg38 3p26.1(chr3:7501915-7755807)x3	GRM7, GRM7-AS1	Copy number gain	See cases	GUncertain significance
Select item 60054	GRCh38/hg38 3p24.1(chr3:30623003-30666517)x1	TGFBR2	Copy number loss	See cases	GUncertain significance
Select item 57725	GRCh38/hg38 3p24.1(chr3:30623003-30656356)x3	TGFBR2	Copy number gain	See cases	GUncertain significance
Select item 60055	GRCh38/hg38 3p24.1(chr3:30628928-30656356)x1	TGFBR2	Copy number loss	See cases	GUncertain significance
Select item 60056	GRCh38/hg38 3p24.1(chr3:30638613-30656356)x1	TGFBR2	Copy number loss	See cases	GUncertain significance
Select item 57770	GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1	ARPP21, ARPP21-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 60057	GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1	ACTR8, ARHGEF3 +53 more	Copy number loss	See cases	GUncertain significance
Select item 57763	GRCh38/hg38 3q11.2(chr3:95446191-96138545)x3	LOC112935964	Copy number gain	See cases	GUncertain significance
Select item 57833	GRCh38/hg38 3q22.3(chr3:138945182-138946841)x1	FOXL2	Copy number loss	See cases	GPathogenic
Select item 57872	GRCh38/hg38 3q28(chr3:188362559-189767088)x1	LOC111162620, LOC123464480 +22 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 160933	GRCh38/hg38 3q29(chr3:196013486-197590232)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 160885	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	LINC00885, LOC126806932 +107 more	Copy number loss	See cases	GPathogenic
Select item 60161	GRCh38/hg38 4p16.3(chr4:72555-620625)x1	LOC105374338, LOC126806939 +16 more	Copy number loss	See cases	GUncertain significance
Select item 58012	GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	ADD1, ADRA2C +327 more	Copy number gain	See cases	GPathogenic
Select item 57856	GRCh38/hg38 4p14(chr4:38015168-38397834)x3	LOC129992412, LOC129992413 +26 more	Copy number gain	See cases	GUncertain significance
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 60221	GRCh38/hg38 4q35.2(chr4:187589886-188831793)x1	LINC01060, LINC02434 +22 more	Copy number loss	See cases	GUncertain significance
Select item 60225	GRCh38/hg38 5p15.33(chr5:22149-138331)x1	LOC123493256, PLEKHG4B	Copy number loss	See cases	GUncertain significance
Select item 59573	GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	ADAMTS16, ADAMTS16-DT +318 more	Copy number loss	See cases	GPathogenic
Select item 57957	GRCh38/hg38 5p15.2(chr5:13846935-14080008)x3	DNAH5, LOC126807318 +2 more	Copy number gain	See cases	GUncertain significance
Select item 57958	GRCh38/hg38 5p15.2-15.1(chr5:14859578-15364361)x3	ANKH, LINC02149 +8 more	Copy number gain	See cases	GUncertain significance
Select item 59607	GRCh38/hg38 5p13.2(chr5:36834830-36906334)x1	LOC129993810, LOC129993811 +3 more	Copy number loss	See cases	GPathogenic
Select item 58097	GRCh38/hg38 5q14.3-15(chr5:87124838-93383020)x3	ADGRV1, ARRDC3 +120 more	Copy number gain	See cases	GPathogenic
Select item 59445	GRCh38/hg38 5q15(chr5:97716206-98876426)x3	CHD1, LINC01846 +10 more	Copy number gain	See cases	GUncertain significance
Select item 58395	GRCh38/hg38 5q35.1-35.2(chr5:172776798-174342969)x1	ATP6V0E1, BNIP1 +91 more	Copy number loss	See cases	GPathogenic
Select item 59300	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 57051	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1	ARL10, CDHR2 +129 more	Copy number loss	See cases	GPathogenic
Select item 58408	GRCh38/hg38 6p25.3-25.2(chr6:163083-2724611)x1	DUSP22, EXOC2 +127 more	Copy number loss	See cases	GPathogenic
Select item 59503	GRCh38/hg38 6q11.1-12(chr6:62375491-62988572)x3		Copy number gain	See cases	GUncertain significance
Select item 58828	GRCh38/hg38 6q14.1(chr6:80332710-81126767)x1	BCKDHB, LOC123775377 +3 more	Copy number loss	See cases	GUncertain significance
Select item 59523	GRCh38/hg38 6q14.3(chr6:86044776-86906081)x3	LOC121132698, LOC126859728 +3 more	Copy number gain	See cases	GUncertain significance
Select item 59527	GRCh38/hg38 6q22.1(chr6:117206991-117881842)x3	DCBLD1, GOPC +24 more	Copy number gain	See cases	GUncertain significance
Select item 58832	GRCh38/hg38 6q26(chr6:162163268-162378349)x1	LOC126859871, PRKN	Copy number loss	See cases	GUncertain significance
Select item 58835	GRCh38/hg38 6q26(chr6:162233059-162449396)x1	PRKN	Copy number loss	See cases	GUncertain significance
Select item 58834	GRCh38/hg38 6q26(chr6:162233059-162579288)x1	PRKN	Copy number loss	See cases	GUncertain significance
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58509	GRCh38/hg38 7p22.1(chr7:5331115-6031221)x1	ACTB, AIMP2 +63 more	Copy number loss	See cases	GPathogenic
Select item 58520	GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1	AGMO, AGR2 +67 more	Copy number loss	See cases	GPathogenic
Select item 59569	GRCh38/hg38 7p21.1(chr7:17034713-17544671)x3	AHR, LINC02888 +11 more	Copy number gain	See cases	GUncertain significance
Select item 58864	GRCh38/hg38 7p15.3(chr7:22955449-23155175)x1	HYCC1, KLHL7 +6 more	Copy number loss	See cases	GUncertain significance
Select item 59597	GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3	CCT6A, CHCHD2 +93 more	Copy number gain	See cases	GUncertain significance
Select item 160898	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 59621	GRCh38/hg38 7q21.11-21.12(chr7:86669909-87492659)x3	ABCB4, CROT +30 more	Copy number gain	See cases	GUncertain significance
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999254, LOC129999255 +284 more	Copy number loss	See cases	GPathogenic
Select item 59694	GRCh38/hg38 7q34(chr7:138795539-140364913)x3	ATP6V0A4, CLEC2L +86 more	Copy number gain	See cases	GUncertain significance
Select item 154305	GRCh38/hg38 7q35(chr7:146539138-146966208)x1	CNTNAP2, LOC123956262 +1 more	Copy number loss	See cases	GUncertain significance
Select item 59695	GRCh38/hg38 7q36.1-36.2(chr7:152674212-153187462)x3	ACTR3B, LOC123956274 +10 more	Copy number gain	See cases	GUncertain significance
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 58431	GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3	ANGPT1, EBAG9 +32 more	Copy number gain	See cases	GUncertain significance
Select item 58997	GRCh38/hg38 8q24.13(chr8:124377953-124575712)x1	LOC129390046, LOC130001073 +11 more	Copy number loss	See cases	GUncertain significance
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 59837	GRCh38/hg38 9p24.3-24.2(chr9:204193-3468435)x3	DMRT1, DMRT2 +67 more	Copy number gain	See cases	GPathogenic
Select item 59029	GRCh38/hg38 9p24.3(chr9:204193-315028)x1	DOCK8, DOCK8-AS1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 59051	GRCh38/hg38 9p24.3(chr9:556625-789845)x1	KANK1, LOC124210605 +3 more	Copy number loss	See cases	GUncertain significance
Select item 154299	GRCh38/hg38 9p23(chr9:9972107-12031786)x1	LOC124210615, LOC126860579 +3 more	Copy number loss	See cases	GUncertain significance
Select item 59109	GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1	C9orf40, CARNMT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 58481	GRCh38/hg38 9q32(chr9:114246876-114637081)x3	AKNA, ATP6V1G1 +29 more	Copy number gain	See cases	GUncertain significance
Select item 160940	GRCh38/hg38 9q33.1(chr9:117189877-119261350)x3	ASTN2, BRINP1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 58500	GRCh38/hg38 9q34.13(chr9:131702422-132271840)x3	LOC113839534, LOC121366032 +25 more	Copy number gain	See cases	GUncertain significance
Select item 59090	GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1	ANAPC2, CIMIP2A +60 more	Copy number loss	See cases	GUncertain significance
Select item 58543	GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1	AGAP10, AGAP4 +125 more	Copy number loss	See cases	GPathogenic
Select item 57887	GRCh38/hg38 10q21.1(chr10:53477144-54916701)x3	LOC105378311, MIR548F1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 58820	GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1	LOC130004912, LOC130004913 +164 more	Copy number loss	See cases	GPathogenic
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 59414	GRCh38/hg38 11p11.2(chr11:44114130-44171722)x1	EXT2	Copy number loss	See cases	GLikely pathogenic
Select item 58160	GRCh38/hg38 11p11.2(chr11:45272625-45532378)x3	LINC02687, LINC02696 +2 more	Copy number gain	See cases	GUncertain significance
Select item 58162	GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3	BTBD18, CLP1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic

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