CHD1-DT[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +435 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	ADGRV1, ARB2A +276 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +274 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC129994229, LOC129994230 +688 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	LOC129994369, LOC129994370 +495 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	LOC129994289, LOC129994290 +342 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic

ClinVar