"Ambry Genetics"[submitter] AND "OCM2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2217499	NM_006188.4(OCM2):c.266C>T (p.Ala89Val)	OCM2 (A89V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307343	NM_006188.4(OCM2):c.202C>T (p.Leu68Phe)	OCM2 (L68F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608436	NM_006188.4(OCM2):c.169G>T (p.Gly57Trp)	OCM2 (G57W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409991	NM_006188.4(OCM2):c.160G>A (p.Asp54Asn)	OCM2 (D54N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599661	NM_006188.4(OCM2):c.146G>A (p.Arg49Gln)	OCM2 (R49Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234737	NM_006188.3(OCM2):c.145C>T	OCM2	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 2280187	NM_006188.4(OCM2):c.17T>G (p.Val6Gly)	OCM2 (V6G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460154	NM_006188.4(OCM2):c.16G>A (p.Val6Met)	OCM2 (V6M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar