ClinVar for MedGen (Select 375107) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340162	NM_000530.8(MPZ):c.30del (p.Ser11fs)	MPZ (S11fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2I +5 more	GPathogenic
Select item 2579141	NM_000530.8(MPZ):c.304del (p.Trp101_Val102insTer)	MPZ	Deletion (nonsense)	Charcot-Marie-Tooth disease type 2J	GPathogenic
Select item 2505530	NM_000530.8(MPZ):c.463G>A (p.Gly155Arg)	MPZ (G155R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D +4 more	GUncertain significance
Select item 572034	NM_000530.8(MPZ):c.398C>G (p.Pro133Arg)	MPZ (P133R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely pathogenic
Select item 531677	NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)	MPZ (Y145fs)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 462799	NM_000530.8(MPZ):c.662C>T (p.Ala221Val)	MPZ (A221V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 462797	NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)	MPZ (P133T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B +7 more	GPathogenic/Likely pathogenic
Select item 447734	NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	MPZ (K236del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 246524	NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	MPZ (R45W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity
Select item 216963	NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)	MPZ (P151T)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease +8 more	GConflicting classifications of pathogenicity
Select item 138242	NM_000530.8(MPZ):c.600G>A (p.Gly200=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2I +9 more	GBenign
Select item 14199	NM_000530.8(MPZ):c.313C>A (p.Pro105Thr)	MPZ (P105T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 14195	NM_000530.8(MPZ):c.290A>T (p.Glu97Val)	MPZ (E97V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 14191	NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	MPZ (Y145S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +9 more	GPathogenic
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 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 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