"See cases"[Disease/phenotype] AND "ISCA site 7"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146981	GRCh38/hg38 1p36.33(chr1:629055-714368)x1	LOC121967041, MIR12136 +1 more	Copy number loss	See cases	GBenign
Select item 147022	GRCh38/hg38 1p36.33(chr1:859245-911327)x3	FAM41C, LINC01128 +2 more	Copy number gain	See cases	GBenign
Select item 147067	GRCh38/hg38 1p36.21(chr1:12666714-13181499)x3	AADACL3, AADACL4 +21 more	Copy number gain	See cases	GBenign
Select item 147038	GRCh38/hg38 1p36.21(chr1:12779298-13075120)x1	HNRNPCL1, HNRNPCL3 +11 more	Copy number loss	See cases	GBenign
Select item 146992	GRCh38/hg38 1p36.13(chr1:16600282-16722267)x1	FAM231AP, LOC129929532 +5 more	Copy number loss	See cases	GBenign
Select item 147250	GRCh38/hg38 1p36.13(chr1:16724714-16905292)x3	LINC03126, LOC105376805 +11 more	Copy number gain	See cases	GBenign
Select item 147202	GRCh38/hg38 1p36.13(chr1:16761932-16779982)x1		Copy number loss	See cases	GBenign
Select item 147237	GRCh38/hg38 1p36.11(chr1:25282988-25321796)x1	RHD, RSRP1	Copy number loss	See cases	GBenign
Select item 147238	GRCh38/hg38 1p21.1(chr1:103564937-103621159)x3	AMY2A, AMY2B	Copy number gain	See cases	GBenign
Select item 147190	GRCh38/hg38 1p21.1(chr1:103618379-103668405)x3	AMY1A, AMY2A	Copy number gain	See cases	GBenign
Select item 147251	GRCh38/hg38 1q21.1(chr1:143546375-143780462)x1	LOC107985108, RNVU1-17 +4 more	Copy number loss	See cases	GBenign
Select item 147057	GRCh38/hg38 1q21.1(chr1:143546375-143697424)x1	TRH-GTG2-1, TRQ-CTG4-2	Copy number loss	See cases	GBenign
Select item 147096	GRCh38/hg38 1q21.1(chr1:143642875-143729363)x3	RNVU1-17, TRH-GTG2-1 +1 more	Copy number gain	See cases	GBenign
Select item 147130	GRCh38/hg38 1q23.3(chr1:161532018-161567694)x1	FCGR3A, LOC129931773 +1 more	Copy number loss	See cases	GBenign
Select item 147039	GRCh38/hg38 1q23.3(chr1:161589976-161649084)x3	FCGR2B, FCGR2C +4 more	Copy number gain	See cases	GBenign
Select item 147041	GRCh38/hg38 1q31.3(chr1:196769797-196830143)x1	CFHR1, CFHR3	Copy number loss	See cases	GBenign
Select item 147040	GRCh38/hg38 1q31.3(chr1:196769797-196830143)x3	CFHR1, CFHR3	Copy number gain	See cases	GBenign
Select item 147003	GRCh38/hg38 1q31.3(chr1:196769797-196929505)x1	CFHR1, CFHR3 +3 more	Copy number loss	See cases	GBenign
Select item 147068	GRCh38/hg38 1q31.3(chr1:196830143-196922509)x1	CFHR1, CFHR4 +2 more	Copy number loss	See cases	GBenign
Select item 147079	GRCh38/hg38 1q31.3(chr1:196856035-196922509)x1	CFHR4, LOC122149335 +1 more	Copy number loss	See cases	GBenign
Select item 147069	GRCh38/hg38 1q42.3(chr1:234802578-235914149)x3	ARID4B, B3GALNT2 +75 more	Copy number gain	See cases	GUncertain significance
Select item 146932	GRCh38/hg38 1q44(chr1:248176668-248406116)x3	LOC126806088, LOC129388812 +10 more	Copy number gain	See cases	GBenign
Select item 147231	GRCh38/hg38 1q44(chr1:248564628-248628926)x1	OR2T10, OR2T11 +1 more	Copy number loss	See cases	GBenign
Select item 146933	GRCh38/hg38 1q44(chr1:248564628-248622232)x1	OR2T10, OR2T34	Copy number loss	See cases	GBenign
Select item 147043	GRCh38/hg38 1q44(chr1:248592944-248628926)x1	OR2T10, OR2T11	Copy number loss	See cases	GBenign
Select item 147010	GRCh38/hg38 2p24.3(chr2:13066912-13138680)x3		Copy number gain	See cases	GBenign
Select item 147075	GRCh38/hg38 2p16.3(chr2:52479088-52554302)x1		Copy number loss	See cases	GBenign
Select item 147185	GRCh38/hg38 2p16.3(chr2:52523635-52554302)x1		Copy number loss	See cases	GBenign
Select item 147084	GRCh38/hg38 2p16.3(chr2:52523636-52554302)x1		Copy number loss	See cases	GBenign
Select item 147083	GRCh38/hg38 2p16.3(chr2:52523636-52554302)x3		Copy number gain	See cases	GBenign
Select item 147137	GRCh38/hg38 2p16.2(chr2:52617246-52658362)x1		Copy number loss	See cases	GBenign
Select item 147165	GRCh38/hg38 2p11.2(chr2:89264392-89918199)x1	IGK, IGKV1-33 +9 more	Copy number loss	See cases	GBenign
Select item 147138	GRCh38/hg38 2p11.2(chr2:89264392-89918199)x1	IGK, IGKV1-33 +9 more	Copy number loss	See cases	GBenign
Select item 147100	GRCh38/hg38 2p11.2(chr2:89936685-90219425)x1	IGK, IGKV1D-12 +15 more	Copy number loss	See cases	GBenign
Select item 147120	GRCh38/hg38 2p11.2(chr2:91482333-91624482)x1		Copy number loss	See cases	GBenign
Select item 147196	GRCh38/hg38 2q13(chr2:110025681-110576905)x1	LIMS4, LINC01106 +12 more	Copy number loss	See cases	GBenign
Select item 147062	GRCh38/hg38 2q37.3(chr2:241901492-242086273)x1	FAM240C, LINC01237 +5 more	Copy number loss	See cases	GBenign
Select item 147220	GRCh38/hg38 2q37.3(chr2:241910444-242110184)x1	LINC01237, LINC01238 +6 more	Copy number loss	See cases	GBenign
Select item 147243	GRCh38/hg38 2q37.3(chr2:241914466-242086273)x1	LINC01237, LINC01238 +4 more	Copy number loss	See cases	GBenign
Select item 147111	GRCh38/hg38 2q37.3(chr2:241930912-242086273)x1	LINC01237, LINC01238 +4 more	Copy number loss	See cases	GBenign
Select item 147226	GRCh38/hg38 2q37.3(chr2:241947704-241968354)x3	LINC01237	Copy number gain	See cases	GBenign
Select item 147091	GRCh38/hg38 2q37.3(chr2:242016346-242038116)x1	LINC01237	Copy number loss	See cases	GBenign
Select item 147063	GRCh38/hg38 3p26.3(chr3:1798624-1880804)x3		Copy number gain	See cases	GBenign
Select item 147024	GRCh38/hg38 3p14.1(chr3:65184529-65227773)x1	LINC02040	Copy number loss	See cases	GBenign
Select item 147140	GRCh38/hg38 3p14.1(chr3:66580588-66617624)x3		Copy number gain	See cases	GBenign
Select item 147168	GRCh38/hg38 3p12.3(chr3:78701774-78968186)x1	LOC123002307, LOC123002308 +1 more	Copy number loss	See cases	GLikely benign
Select item 147027	GRCh38/hg38 3q26.1(chr3:162787004-162901324)x1	LOC132088893	Copy number loss	See cases	GBenign
Select item 147026	GRCh38/hg38 3q26.1(chr3:162787004-162901324)x0	LOC132088893	Copy number loss	See cases	GBenign
Select item 147197	GRCh38/hg38 3q26.1(chr3:162796776-162866788)x3		Copy number gain	See cases	GBenign
Select item 146986	GRCh38/hg38 3q26.1(chr3:162796776-162901324)x1	LOC132088893	Copy number loss	See cases	GBenign
Select item 146985	GRCh38/hg38 3q26.1(chr3:162796776-162901324)x0	LOC132088893	Copy number loss	See cases	GBenign
Select item 147053	GRCh38/hg38 3q26.1(chr3:162823050-162901324)x1	LOC132088893	Copy number loss	See cases	GBenign
Select item 147052	GRCh38/hg38 3q26.1(chr3:162823050-162901324)x0	LOC132088893	Copy number loss	See cases	GBenign
Select item 147222	GRCh38/hg38 3q26.1(chr3:162866788-162901324)x1	LOC132088893	Copy number loss	See cases	GBenign
Select item 147029	GRCh38/hg38 3q29(chr3:195692326-195711622)x1	MIR570, MIR570HG	Copy number loss	See cases	GBenign
Select item 147028	GRCh38/hg38 3q29(chr3:195692326-195711622)x3	MIR570, MIR570HG	Copy number gain	See cases	GBenign
Select item 147208	GRCh38/hg38 4p16.3(chr4:45916-68293)x1	ZNF595	Copy number loss	See cases	GBenign
Select item 146941	GRCh38/hg38 4p16.3(chr4:4027514-4207444)x1	LOC129992127, OTOP1	Copy number loss	See cases	GBenign
Select item 146969	GRCh38/hg38 4p15.1(chr4:35540392-35603109)x1		Copy number loss	See cases	GBenign
Select item 147117	GRCh38/hg38 4q13.2(chr4:68509451-68568203)x1	UGT2B17	Copy number loss	See cases	GBenign
Select item 147116	GRCh38/hg38 4q13.2(chr4:68509451-68568203)x3	UGT2B17	Copy number gain	See cases	GBenign
Select item 147032	GRCh38/hg38 4q13.2(chr4:68509451-68596407)x1	UGT2B17	Copy number loss	See cases	GBenign
Select item 147031	GRCh38/hg38 4q13.2(chr4:68509451-68596407)x3	UGT2B17	Copy number gain	See cases	GBenign
Select item 147015	GRCh38/hg38 4q13.2(chr4:68509451-68617530)x1	UGT2B17	Copy number loss	See cases	GBenign
Select item 147014	GRCh38/hg38 4q13.2(chr4:68509451-68617530)x3	UGT2B17	Copy number gain	See cases	GBenign
Select item 146955	GRCh38/hg38 4q13.2(chr4:68509452-68617530)x1	UGT2B17	Copy number loss	See cases	GBenign
Select item 146954	GRCh38/hg38 4q13.2(chr4:68509452-68617530)x3	UGT2B17	Copy number gain	See cases	GBenign
Select item 147245	GRCh38/hg38 4q13.2(chr4:68526857-68596407)x3	UGT2B17	Copy number gain	See cases	GBenign
Select item 147054	GRCh38/hg38 4q13.2(chr4:69259413-69316429)x3	UGT2B28	Copy number gain	See cases	GBenign
Select item 146970	GRCh38/hg38 4q13.2(chr4:69288177-69364412)x3	LOC129389216, UGT2B28	Copy number gain	See cases	GBenign
Select item 146942	GRCh38/hg38 4q13.2(chr4:69288177-69337501)x3	UGT2B28	Copy number gain	See cases	GBenign
Select item 146971	GRCh38/hg38 4q13.3(chr4:72953350-73179096)x3	ANKRD17, COX18 +2 more	Copy number gain	See cases	GBenign
Select item 147221	GRCh38/hg38 5p15.33(chr5:692766-772959)x1	LOC129993564, LOC129993565 +4 more	Copy number loss	See cases	GBenign
Select item 146956	GRCh38/hg38 5p15.33(chr5:692766-795659)x3	LOC129993564, LOC129993565 +6 more	Copy number gain	See cases	GBenign
Select item 146987	GRCh38/hg38 5p15.33(chr5:710409-795659)x3	LOC129993565, LOC129993566 +4 more	Copy number gain	See cases	GBenign
Select item 146972	GRCh38/hg38 5p15.33(chr5:759084-820331)x3	LOC132089303, ZDHHC11 +1 more	Copy number gain	See cases	GBenign
Select item 147198	GRCh38/hg38 5p15.33(chr5:795659-821793)x1	ZDHHC11	Copy number loss	See cases	GBenign
Select item 147000	GRCh38/hg38 5q13.2(chr5:70130451-71013999)x1	LOC113002590, NAIP +3 more	Copy number loss	See cases	GBenign
Select item 146957	GRCh38/hg38 5q13.2(chr5:70409765-71090744)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 147199	GRCh38/hg38 5q13.2(chr5:71074103-71361891)x1	LINC02197, SNORD13B-2	Copy number loss	See cases	GBenign
Select item 147076	GRCh38/hg38 5q13.2(chr5:71074103-71092987)x1	SNORD13B-2	Copy number loss	See cases	GBenign
Select item 147123	GRCh38/hg38 5q13.2(chr5:71090743-71367241)x1	LINC02197	Copy number loss	See cases	GBenign
Select item 147200	GRCh38/hg38 5q21.3(chr5:105137582-105247560)x1	LOC129389334	Copy number loss	See cases	GBenign
Select item 147141	GRCh38/hg38 6p25.3(chr6:152664-184808)x1	LINC03066, LIRIL2R +2 more	Copy number loss	See cases	GBenign
Select item 147246	GRCh38/hg38 6p25.3(chr6:255380-366778)x1	DUSP22, LOC126859546 +25 more	Copy number loss	See cases	GBenign
Select item 147256	GRCh38/hg38 6p25.3(chr6:259345-296704)x3	DUSP22, LOC129995536 +3 more	Copy number gain	See cases	GBenign
Select item 147209	GRCh38/hg38 6p25.3(chr6:259345-293592)x1	DUSP22, LOC129995536 +2 more	Copy number loss	See cases	GBenign
Select item 147179	GRCh38/hg38 6p25.3(chr6:259345-350238)x1	DUSP22, LOC126859546 +23 more	Copy number loss	See cases	GBenign
Select item 147102	GRCh38/hg38 6p25.3(chr6:259345-366778)x1	DUSP22, LOC126859546 +25 more	Copy number loss	See cases	GBenign
Select item 147085	GRCh38/hg38 6p25.3(chr6:259345-289144)x1	LOC129995536, LOC129995537	Copy number loss	See cases	GBenign
Select item 147228	GRCh38/hg38 6p22.1(chr6:29887122-29928906)x1	HCG4B	Copy number loss	See cases	GBenign
Select item 147103	GRCh38/hg38 6p22.1(chr6:29887122-29934508)x1	HCG4B	Copy number loss	See cases	GBenign
Select item 147086	GRCh38/hg38 6p22.1(chr6:29887122-29969806)x1	HCG4B, HLA-A +1 more	Copy number loss	See cases	GBenign
Select item 147104	GRCh38/hg38 6p21.33(chr6:31413982-31477904)x1	HCG26, HCP5 +3 more	Copy number loss	See cases	GBenign
Select item 147011	GRCh38/hg38 6p21.33(chr6:31996089-32041483)x1	C4A, C4B +6 more	Copy number loss	See cases	GBenign
Select item 146974	GRCh38/hg38 6p21.32(chr6:32444210-32584357)x3	HLA-DRA, HLA-DRB1 +2 more	Copy number gain	See cases	GBenign
Select item 147187	GRCh38/hg38 6p21.32(chr6:32482945-32597031)x3	HLA-DRB1, HLA-DRB5	Copy number gain	See cases	GBenign
Select item 147180	GRCh38/hg38 6p21.32(chr6:32482945-32554123)x3	HLA-DRB5	Copy number gain	See cases	GBenign
Select item 147158	GRCh38/hg38 6p21.32(chr6:32482945-32669311)x3	HLA-DQA1, HLA-DQB1 +4 more	Copy number gain	See cases	GBenign
Select item 147101	GRCh38/hg38 6p21.32(chr6:32482945-32578707)x3	HLA-DRB5	Copy number gain	See cases	GBenign

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