"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 243058	NC_000001.11:g.161305808_161309983dup	MPZ	Duplication (genic upstream transcript variant)	Charcot-Marie-Tooth disease type 1B	GLikely pathogenic
Select item 243089	NM_000530.8(MPZ):c.403A>C (p.Ile135Leu)	MPZ (I135L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B	GPathogenic
Select item 243060	Single allele	MPZ, SDHC	Deletion	Charcot-Marie-Tooth disease type 1B	GLikely pathogenic

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