"Baylor Genetics"[submitter] AND "MPZ"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030424	NM_000530.8(MPZ):c.*4T>G	MPZ (L251V)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate D	GUncertain significance
Select item 447734	NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	MPZ (K236del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease type 2I +5 more	GConflicting classifications of pathogenicity
Select item 2770145	NM_000530.8(MPZ):c.369C>T (p.Gly123=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2I +1 more	GUncertain significance
Select item 14175	NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)	MPZ (R98C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B +2 more	GPathogenic
Select item 958383	NM_000530.8(MPZ):c.234G>A (p.Ser78=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I +3 more	GConflicting classifications of pathogenicity
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 374304	GRCh37/hg19 1q23.3(chr1:161255241-161276497)	MPZ	Copy number loss	Charcot-Marie-Tooth disease type 4E	GPathogenic

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