ClinVar (all) for Orgtrack (Select 505286) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154574	GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3	LINC01311, LINC01637 +195 more	Copy number gain	See cases	GPathogenic
Select item 154573	GRCh38/hg38 2p16.3(chr2:50623553-50754975)x1	MIR8485, NRXN1	Copy number loss	See cases	GPathogenic
Select item 153062	GRCh38/hg38 22q11.21-11.22(chr22:21447344-22655838)x1	CCDC116, GGTLC2 +94 more	Copy number loss	See cases	GPathogenic
Select item 153061	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +178 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 153059	GRCh38/hg38 17q12(chr17:36566143-37808105)x3	AATF, ACACA +29 more	Copy number gain	See cases	GUncertain significance
Select item 153058	GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3	C8orf74, CRE3 +67 more	Copy number gain	See cases	GPathogenic
Select item 153057	GRCh38/hg38 Xq21.32-21.33(chrX:93922487-95022681)x1	LOC130068477	Copy number loss	See cases	GUncertain significance
Select item 153056	GRCh38/hg38 18q11.2(chr18:23477183-23753724)x1	ANKRD29, LAMA3 +19 more	Copy number loss	See cases	GUncertain significance
Select item 147911	GRCh38/hg38 15q26.3(chr15:100455891-101105126)x3	ALDH1A3, ALDH1A3-AS1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 147910	GRCh38/hg38 Xq12(chrX:66595648-66675114)x2	EDA2R, LOC126863269 +4 more	Copy number gain	See cases	GUncertain significance
Select item 147909	GRCh38/hg38 3q26.32(chr3:176992658-177191602)x3	LOC112935911, LOC123256946 +7 more	Copy number gain	See cases	GUncertain significance
Select item 147908	GRCh38/hg38 Xq26.3(chrX:136145095-136556106)x3	ADGRG4, BRS3 +10 more	Copy number gain	See cases	GUncertain significance
Select item 147907	GRCh38/hg38 17p13.2(chr17:4289368-4634221)x3	ALOX15, GGT6 +19 more	Copy number gain	See cases	GUncertain significance
Select item 147281	GRCh38/hg38 11q22.3(chr11:107479091-108222532)x1	ACAT1, ALKBH8 +28 more	Copy number loss	See cases	GPathogenic
Select item 147280	GRCh38/hg38 20q13.33(chr20:64023324-64261777)x1	C20orf204, LKAAEAR1 +31 more	Copy number loss	See cases	GPathogenic
Select item 147279	GRCh38/hg38 10q26.11(chr10:118330136-118685873)x3	CACUL1, FAM204A +4 more	Copy number gain	See cases	GPathogenic