"PreventionGenetics, part of Exact Sciences"[submitter] AND "MPZ"[gene - 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)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 138242	NM_000530.8(MPZ):c.600G>A (p.Gly200=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1B +8 more	GBenign
Select item 531677	NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)	MPZ (Y145fs)	Deletion (frameshift variant)	MPZ-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 14191	NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	MPZ (Y145S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4E +9 more	GPathogenic
Select item 14176	NM_000530.8(MPZ):c.293G>A (p.Arg98His)	MPZ (R98H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B +10 more	GPathogenic/Likely pathogenic
Select item 411669	NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)	MPZ (S78W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +2 more	GPathogenic/Likely pathogenic
Select item 246524	NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	MPZ (R45W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GConflicting classifications of pathogenicity
Select item 44647	NM_003001.3(SDHC):c.20+11_20+12dup	MPZ, SDHC	Duplication (5 prime UTR variant +1 more)	Charcot-Marie-Tooth, Intermediate +9 more	GBenign

ClinVar