C0270912[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41024	NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)	MPZ (D224Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 41028	NM_000530.8(MPZ):c.649C>T (p.Pro217Ser)	MPZ (P217S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 41027	NM_000530.8(MPZ):c.645+1G>T	MPZ	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 41023	NM_000530.8(MPZ):c.588dup (p.Met197fs)	MPZ (M197fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 1B	Gnot provided
Select item 208149	NM_000530.8(MPZ):c.499G>A (p.Gly167Arg)	MPZ (G167R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 14170	NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	MPZ (G167R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +7 more	GPathogenic
Select item 208148	NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)	MPZ (G163R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 41022	NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)	MPZ (G163R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 14186	NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)	MPZ (N131K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic
Select item 41021	NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)	MPZ (K130R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B +2 more	GPathogenic
Select item 14181	NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	MPZ (T124M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GPathogenic
Select item 41026	NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)	MPZ (N116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 41020	NM_000530.8(MPZ):c.337G>T (p.Val113Phe)	MPZ (V113F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 41019	NM_000530.8(MPZ):c.306del (p.Asp104fs)	MPZ (D104fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate D +1 more	GPathogenic/Likely pathogenic
Select item 41018	NM_000530.8(MPZ):c.266T>C (p.Ile89Thr)	MPZ (I89T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B	Gnot provided
Select item 41017	NM_000530.8(MPZ):c.244T>C (p.Tyr82His)	MPZ (Y82H)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 14179	NM_000530.8(MPZ):c.242A>G (p.His81Arg)	MPZ (H81R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2J +5 more	GPathogenic
Select item 208147	NM_000530.6(MPZ):c.[241C>T;337G>T]	MPZ (H81Y +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B	GPathogenic
Select item 41016	NM_000530.8(MPZ):c.241C>T (p.His81Tyr)	MPZ (H81Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GLikely pathogenic
Select item 14184	NM_000530.8(MPZ):c.224A>T (p.Asp75Val)	MPZ (D75V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 208146	NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)	MPZ (D61N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 41015	NM_000530.8(MPZ):c.175T>A (p.Ser59Thr)	MPZ (S59T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B	Gnot provided
Select item 41025	NM_000530.8(MPZ):c.164G>T (p.Ser55Ile)	MPZ (S55I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 14185	NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)	MPZ (S44F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 41014	NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)	MPZ (I30T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 208244	NP_000521.1(MPZ):p.Asn116Ser	MPZ	Protein only	Charcot-Marie-Tooth disease type 1B	GPathogenic

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Items: 26