ClinVar for MedGen (Select 1648290) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236607	NM_002677.5(PMP2):c.167G>T (p.Ser56Ile)	PMP2 (S56I)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, demyelinating, type 1G	GLikely pathogenic
Select item 2573196	NM_002677.5(PMP2):c.128T>G (p.Ile43Ser)	PMP2 (I43S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, demyelinating, type 1G	GLikely pathogenic
Select item 1333405	NM_002677.5(PMP2):c.155T>A (p.Ile52Lys)	PMP2 (I52K)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, demyelinating, type 1G	GUncertain significance
Select item 1278243	NM_002677.5(PMP2):c.*12T>C	PMP2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, demyelinating, type 1G +1 more	GBenign
Select item 599407	NM_002677.5(PMP2):c.151A>C (p.Thr51Pro)	PMP2 (T51P)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, demyelinating, type 1G	GPathogenic
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 243087	NM_002677.5(PMP2):c.128T>A (p.Ile43Asn)	PMP2 (I43N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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