"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374017	NM_000530.8(MPZ):c.699T>G (p.Ser233Arg)	MPZ (S233R)	Single nucleotide variant (missense variant)	Roussy-Lévy syndrome +4 more	GLikely pathogenic
Select item 931561	NM_000530.8(MPZ):c.603dup (p.Leu202fs)	MPZ (L202fs)	Duplication (frameshift variant)	Roussy-Lévy syndrome	GUncertain significance
Select item 930962	NM_000530.8(MPZ):c.392dup (p.Asn131fs)	MPZ (N131fs)	Duplication (frameshift variant)	Roussy-Lévy syndrome	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
Select item 14194	NM_000530.8(MPZ):c.186C>G (p.Ile62Met)	MPZ (I62M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +3 more	GConflicting classifications of pathogenicity
Select item 637777	NM_000530.8(MPZ):c.173T>A (p.Val58Asp)	MPZ (V58D)	Single nucleotide variant (missense variant)	Roussy-Lévy syndrome +1 more	GConflicting classifications of pathogenicity

ClinVar