ClinVar for MedGen (Select 854756) - ClinVar

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Items: 30

	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 2770145	NM_000530.8(MPZ):c.369C>T (p.Gly123=)	MPZ	Single nucleotide variant (synonymous variant)	Neuropathy, congenital hypomyelinating, 2 +2 more	GUncertain significance
Select item 2627479	NM_000530.8(MPZ):c.597G>C (p.Lys199Asn)	MPZ (K199N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2I	GUncertain significance
Select item 2505530	NM_000530.8(MPZ):c.463G>A (p.Gly155Arg)	MPZ (G155R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +4 more	GUncertain significance
Select item 1211734	NM_000530.8(MPZ):c.312C>A (p.Asp104Glu)	MPZ (D104E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 917380	NM_000530.8(MPZ):c.208C>A (p.Pro70Thr)	MPZ (P70T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 860307	NM_000530.8(MPZ):c.275T>A (p.Val92Glu)	MPZ (V92E)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 637929	NM_000530.8(MPZ):c.736G>A (p.Asp246Asn)	MPZ (D246N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2I	GUncertain significance
Select item 637797	NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)	MPZ (R106C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 637361	NM_000530.8(MPZ):c.421C>T (p.Gln141Ter)	MPZ (Q141*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 1B +3 more	GPathogenic
Select item 637323	NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)	MPZ (T34I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2J +7 more	GConflicting classifications of pathogenicity
Select item 637322	NM_000530.8(MPZ):c.59C>T (p.Ser20Phe)	MPZ, SDHC (S20F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2I +3 more	GUncertain significance
Select item 549681	NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)	MPZ (Y82C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +2 more	GPathogenic
Select item 531677	NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)	MPZ (Y145fs)	Deletion (frameshift variant)	MPZ-related disorder +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 I +7 more	GPathogenic/Likely pathogenic
Select item 462790	NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)	MPZ (D35N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +3 more	GPathogenic
Select item 447734	NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	MPZ (K236del)	Microsatellite (inframe_deletion)	Dejerine-Sottas disease +5 more	GConflicting classifications of pathogenicity
Select item 246524	NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	MPZ (R45W)	Single nucleotide variant (missense variant)	Roussy-Lévy syndrome +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)	Charcot-Marie-Tooth disease, type I +8 more	GConflicting classifications of pathogenicity
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 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 14194	NM_000530.8(MPZ):c.186C>G (p.Ile62Met)	MPZ (I62M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2I +3 more	GConflicting classifications of pathogenicity
Select item 14193	NM_000530.8(MPZ):c.178G>C (p.Asp60His)	MPZ (D60H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B +1 more	GConflicting classifications of pathogenicity
Select item 14191	NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	MPZ (Y145S)	Single nucleotide variant (missense variant)	MPZ-related disorder +9 more	GPathogenic
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 14182	NM_000530.6(MPZ):c.[266T>A;274G>A;486C>G]	MPZ (V92M +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2I	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 14179	NM_000530.8(MPZ):c.242A>G (p.His81Arg)	MPZ (H81R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D +5 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 2J +7 more	GPathogenic

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Items: 30