"Ambry Genetics"[submitter] AND "PMP2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1479286	NM_002677.5(PMP2):c.395T>C (p.Val132Ala)	PMP2 (V132A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1468497	NM_002677.5(PMP2):c.388G>A (p.Glu130Lys)	PMP2 (E130K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1444845	NM_002677.5(PMP2):c.347C>T (p.Ala116Val)	PMP2 (A116V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 599406	NM_002677.5(PMP2):c.155T>C (p.Ile52Thr)	PMP2 (I52T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2160762	NM_002677.5(PMP2):c.142G>A (p.Asp48Asn)	PMP2 (D48N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2495606	NM_002677.5(PMP2):c.135G>T (p.Lys45Asn)	PMP2 (K45N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323044	NM_002677.5(PMP2):c.89C>T (p.Thr30Ile)	PMP2 (T30I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar