"MPZ-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 293310	NM_000530.8(MPZ):c.*195G>T	MPZ	Single nucleotide variant (3 prime UTR variant)	Roussy-Lévy syndrome +6 more	GConflicting classifications of pathogenicity
Select item 531677	NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)	MPZ (Y145fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 14191	NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	MPZ (Y145S)	Single nucleotide variant (missense variant)	MPZ-related disorder +9 more	GPathogenic
Select item 14176	NM_000530.8(MPZ):c.293G>A (p.Arg98His)	MPZ (R98H)	Single nucleotide variant (missense variant)	MPZ-related disorder +10 more	GPathogenic/Likely pathogenic
Select item 411669	NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)	MPZ (S78W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 246524	NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	MPZ (R45W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2I +10 more	GConflicting classifications of pathogenicity

ClinVar