"Ambry Genetics"[submitter] AND "MPV17L2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2334716	NM_032683.3(MPV17L2):c.13G>A (p.Gly5Ser)	MPV17L2 (G5S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520818	NM_032683.3(MPV17L2):c.71C>T (p.Ala24Val)	LOC130063985, MPV17L2 (A24V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321584	NM_032683.3(MPV17L2):c.113C>A (p.Ala38Glu)	MPV17L2 (A38E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406875	NM_032683.3(MPV17L2):c.395G>A (p.Ser132Asn)	MPV17L2 (S132N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525570	NM_032683.3(MPV17L2):c.568C>A (p.Pro190Thr)	MPV17L2 (P190T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287332	NM_032683.3(MPV17L2):c.608C>T (p.Thr203Ile)	MPV17L2 (T203I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar