C0011195[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 14181	NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	MPZ (T124M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +9 more	GPathogenic
Select item 531692	NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)	PMP22 (C85W)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 245824	NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg)	PRX (G1257R)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	GUncertain significance
Select item 543373	NM_181882.3(PRX):c.718C>T (p.Arg240Trp)	PRX (R240W)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	GUncertain significance
Select item 547996	NM_181882.3(PRX):c.80C>A (p.Thr27Asn)	LOC130064454, PRX (T27N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4F +3 more	GUncertain significance

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