ClinVar for Gene (Select 112268203) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3105583	NM_006460.3(HEXIM1):c.556G>T (p.Ala186Ser)	HEXIM1, HEXIM2-AS1 (A186S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479023	NM_006460.3(HEXIM1):c.502T>C (p.Tyr168His)	HEXIM1, HEXIM2-AS1 (Y168H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327172	NM_006460.3(HEXIM1):c.1040G>A (p.Arg347Gln)	HEXIM1, HEXIM2-AS1 (R347Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 60171	GRCh38/hg38 17q21.31(chr17:44906235-45220406)x3	ACBD4, C1QL1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 59587	GRCh38/hg38 17q21.31(chr17:44928498-45299730)x1	ACBD4, C1QL1 +54 more	Copy number loss	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic

ClinVar