ClinVar for MedGen (Select 334318) - ClinVar

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Items: 56

	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 3256110	NM_000530.8(MPZ):c.279G>T (p.Gly93=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate D	GLikely pathogenic
Select item 3255529	NM_000530.8(MPZ):c.119G>T (p.Gly40Val)	MPZ (G40V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D	GUncertain significance
Select item 2683933	NM_000530.8(MPZ):c.215G>A (p.Gly72Glu)	MPZ (G72E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D	GUncertain significance
Select item 2578457	NM_000530.8(MPZ):c.73_74delinsA (p.Ser25fs)	MPZ (S25fs)	Indel (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate D	GLikely pathogenic
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 1676219	NM_000530.8(MPZ):c.112G>T (p.Val38Phe)	MPZ (V38F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D	GUncertain significance
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 976361	NM_000530.8(MPZ):c.127G>A (p.Gly43Ser)	MPZ (G43S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D	GUncertain significance
Select item 932295	NM_000530.8(MPZ):c.103G>C (p.Asp35His)	MPZ (D35H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D	GUncertain significance
Select item 876416	NM_000530.8(MPZ):c.*360C>G	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1B +4 more	GConflicting classifications of pathogenicity
Select item 876415	NM_000530.8(MPZ):c.*369C>T	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +3 more	GUncertain significance
Select item 876373	NM_000530.8(MPZ):c.*752G>A	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1B +3 more	GUncertain significance
Select item 876254	NM_000530.8(MPZ):c.*903G>A	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +3 more	GUncertain significance
Select item 875495	NM_000530.8(MPZ):c.184A>G (p.Ile62Val)	MPZ (I62V)	Single nucleotide variant (missense variant)	Neuropathy, congenital hypomyelinating, 2 +3 more	GUncertain significance
Select item 875384	NM_000530.8(MPZ):c.*435T>G	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +3 more	GUncertain significance
Select item 875383	NM_000530.8(MPZ):c.*522C>A	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1B +3 more	GUncertain significance
Select item 874516	NM_000530.8(MPZ):c.*102C>T	MPZ	Single nucleotide variant (3 prime UTR variant +1 more)	Roussy-Lévy syndrome +3 more	GUncertain significance
Select item 874466	NM_000530.8(MPZ):c.*341A>G	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1B +3 more	GUncertain significance
Select item 873574	NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)	MPZ (E148D)	Single nucleotide variant (missense variant)	Roussy-Lévy syndrome +3 more	GUncertain significance
Select item 637780	NM_000530.8(MPZ):c.242A>T (p.His81Leu)	MPZ (H81L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 637330	NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)	MPZ (R227S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D +2 more	GPathogenic/Likely pathogenic
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 +2 more	GUncertain significance
Select item 636232	NM_000530.8(MPZ):c.398C>T (p.Pro133Leu)	MPZ (P133L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D	GLikely pathogenic
Select item 549681	NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)	MPZ (Y82C)	Single nucleotide variant (missense variant)	Peripheral neuropathy +2 more	GPathogenic/Likely pathogenic
Select item 531684	NM_000530.8(MPZ):c.428C>T (p.Thr143Met)	MPZ (T143M)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
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 1B +7 more	GPathogenic/Likely pathogenic
Select item 293315	NM_000530.8(MPZ):c.-49C>A	MPZ	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 293314	NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)	MPZ (P26L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B +6 more	GConflicting classifications of pathogenicity
Select item 293313	NM_000530.8(MPZ):c.504G>A (p.Val168=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4E +8 more	GBenign/Likely benign
Select item 293311	NM_000530.8(MPZ):c.*52G>A	MPZ (G267S)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuropathy, congenital hypomyelinating, 2 +4 more	GConflicting classifications of pathogenicity
Select item 293310	NM_000530.8(MPZ):c.*195G>T	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4E +5 more	GConflicting classifications of pathogenicity
Select item 293309	NM_000530.8(MPZ):c.*251C>G	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +4 more	GUncertain significance
Select item 293308	NM_000530.8(MPZ):c.*568C>G	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +5 more	GBenign/Likely benign
Select item 293307	NM_000530.8(MPZ):c.*624C>T	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +5 more	GBenign/Likely benign
Select item 293306	NM_000530.8(MPZ):c.*681A>T	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +4 more	GUncertain significance
Select item 293305	NM_000530.8(MPZ):c.*743C>T	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +4 more	GConflicting classifications of pathogenicity
Select item 293304	NM_000530.8(MPZ):c.*761A>G	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1B +5 more	GBenign
Select item 293301	NM_000530.8(MPZ):c.*954C>A	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +4 more	GUncertain significance
Select item 293300	NM_000530.8(MPZ):c.*1020G>A	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +4 more	GUncertain significance
Select item 293299	NM_000530.8(MPZ):c.*1048A>T	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4E +5 more	GConflicting classifications of pathogenicity
Select item 293298	NM_000530.8(MPZ):c.*1074A>C	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +4 more	GUncertain significance
Select item 246572	NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)	MPZ (G213R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +9 more	GConflicting classifications of pathogenicity
Select item 246524	NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	MPZ (R45W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +9 more	GConflicting classifications of pathogenicity
Select item 237875	NM_000530.8(MPZ):c.200G>A (p.Arg67His)	MPZ (R67H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 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 129619	NM_000530.8(MPZ):c.684C>T (p.Ser228=)	MPZ	Single nucleotide variant (synonymous variant)	Roussy-Lévy syndrome +8 more	GBenign/Likely benign
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 41017	NM_000530.8(MPZ):c.244T>C (p.Tyr82His)	MPZ (Y82H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D +4 more	GPathogenic/Likely pathogenic
Select item 14191	NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	MPZ (Y145S)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease +9 more	GPathogenic
Select item 14183	NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)	MPZ (D35Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GPathogenic/Likely pathogenic
Select item 14181	NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	MPZ (T124M)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease +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

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Items: 56