"3billion"[submitter] AND "MPZ"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 637330	NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)	MPZ (R227S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D +2 more	GPathogenic/Likely pathogenic
Select item 488548	NM_000530.8(MPZ):c.558del (p.Arg186fs)	MPZ (R186fs)	Deletion (frameshift variant)	Neuropathy, congenital hypomyelinating, 2 +1 more	GPathogenic
Select item 14172	NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)	MPZ (I135T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 861910	NM_000530.8(MPZ):c.403A>T (p.Ile135Leu)	MPZ (I135L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely pathogenic
Select item 572034	NM_000530.8(MPZ):c.398C>G (p.Pro133Arg)	MPZ (P133R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely pathogenic
Select item 14176	NM_000530.8(MPZ):c.293G>A (p.Arg98His)	MPZ (R98H)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic/Likely pathogenic

ClinVar