"Institute of Human Genetics, University of Wuerzburg"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1183966	NM_000530.8(MPZ):c.646-2A>C	MPZ	Single nucleotide variant (splice acceptor variant)	Peripheral neuropathy	GLikely pathogenic
Select item 2135981	NM_000530.8(MPZ):c.178G>A (p.Asp60Asn)	MPZ (D60N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2578457	NM_000530.8(MPZ):c.73_74delinsA (p.Ser25fs)	MPZ (S25fs)	Indel (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate D	GLikely pathogenic

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