"Ambry Genetics"[submitter] AND "CALHM6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2623343	NM_001010919.3(CALHM6):c.146T>C (p.Leu49Pro)	CALHM6, CALHM6-AS1 (L49P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597798	NM_001010919.3(CALHM6):c.184G>T (p.Ala62Ser)	CALHM6, CALHM6-AS1 (A62S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614312	NM_001010919.3(CALHM6):c.332T>C (p.Leu111Pro)	CALHM6, CALHM6-AS1 (L111P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553896	NM_001010919.3(CALHM6):c.429C>A (p.Asn143Lys)	CALHM6, CALHM6-AS1 (N143K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527507	NM_001010919.3(CALHM6):c.464G>A (p.Cys155Tyr)	CALHM6, CALHM6-AS1 +1 more (C155Y)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528968	NM_001010919.3(CALHM6):c.560T>C (p.Ile187Thr)	CALHM6, CALHM6-AS1 (I15T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518645	NM_001010919.3(CALHM6):c.803C>T (p.Pro268Leu)	CALHM6, CALHM6-AS1 (P96L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar