ClinVar for MedGen (Select 124377) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 104

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627448	NM_000530.8(MPZ):c.262T>A (p.Tyr88Asn)	MPZ (Y88N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B	GUncertain significance
Select item 2572063	NM_000530.8(MPZ):c.234+1G>A	MPZ	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 1B	GPathogenic
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 2498194	NM_000530.8(MPZ):c.212A>G (p.Glu71Gly)	MPZ (E71G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1710076	NM_000530.8(MPZ):c.585-2A>G	MPZ	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 1B	GLikely pathogenic
Select item 1685953	NM_000530.8(MPZ):c.401A>T (p.Asp134Val)	MPZ (D134V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B	GPathogenic
Select item 1685376	NM_000530.8(MPZ):c.449-2A>G	MPZ	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 1B	GLikely pathogenic
Select item 1067479	NM_000530.8(MPZ):c.277G>A (p.Gly93Arg)	MPZ (G93R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B +1 more	GLikely pathogenic
Select item 958383	NM_000530.8(MPZ):c.234G>A (p.Ser78=)	MPZ	Single nucleotide variant (synonymous variant)	Dejerine-Sottas disease +3 more	GConflicting classifications of pathogenicity
Select item 945306	NM_000530.8(MPZ):c.303G>T (p.Trp101Cys)	MPZ (W101C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B +1 more	GLikely pathogenic
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 861910	NM_000530.8(MPZ):c.403A>T (p.Ile135Leu)	MPZ (I135L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely pathogenic
Select item 658150	NM_000530.8(MPZ):c.362A>G (p.Asp121Gly)	MPZ (D121G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 637928	NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)	MPZ (T65N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic/Likely pathogenic
Select item 637801	NM_000530.8(MPZ):c.332C>T (p.Ser111Phe)	MPZ (S111F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 637329	NM_000530.8(MPZ):c.449-9C>T	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
Select item 637327	NM_000530.8(MPZ):c.190_192del (p.Phe64del)	MPZ (F64del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 1B	GLikely pathogenic
Select item 637323	NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)	MPZ (T34I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 575267	NM_024577.4(SH3TC2):c.1177+5G>A	SH3TC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 559476	Single allele		Deletion	Variegate porphyria +3 more	GPathogenic
Select item 531684	NM_000530.8(MPZ):c.428C>T (p.Thr143Met)	MPZ (T143M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 531677	NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)	MPZ (Y145fs)	Deletion (frameshift variant)	MPZ-related condition +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)	Roussy-Lévy syndrome +7 more	GPathogenic/Likely pathogenic
Select item 449536	NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)	MPZ (D134N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 447734	NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	MPZ (K236del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease type 2I +4 more	GConflicting classifications of pathogenicity
Select item 411674	NM_000530.8(MPZ):c.301T>C (p.Trp101Arg)	MPZ (W101R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B +1 more	GLikely 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 I +6 more	GConflicting classifications of pathogenicity
Select item 293313	NM_000530.8(MPZ):c.504G>A (p.Val168=)	MPZ	Single nucleotide variant (synonymous variant)	not specified +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)	MPZ-related condition +6 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)	Charcot-Marie-Tooth disease type 1B +5 more	GBenign/Likely benign
Select item 293307	NM_000530.8(MPZ):c.*624C>T	MPZ	Single nucleotide variant (3 prime UTR variant)	not provided +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)	Roussy-Lévy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 293304	NM_000530.8(MPZ):c.*761A>G	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +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)	Neuropathy, congenital hypomyelinating, 2 +5 more	GConflicting classifications of pathogenicity
Select item 293298	NM_000530.8(MPZ):c.*1074A>C	MPZ	Single nucleotide variant (3 prime UTR variant)	Roussy-Lévy syndrome +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, type I +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)	MPZ-related condition +10 more	GConflicting classifications of pathogenicity
Select item 246121	NM_000530.8(MPZ):c.188_190del (p.Ser63del)	MPZ (S63del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic
Select item 246029	NM_000530.8(MPZ):c.584+2T>G	MPZ	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 243089	NM_000530.8(MPZ):c.403A>C (p.Ile135Leu)	MPZ (I135L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B	GPathogenic
Select item 243060	Single allele	MPZ, SDHC	Deletion	Charcot-Marie-Tooth disease type 1B	GLikely pathogenic
Select item 243058	NC_000001.11:g.161305808_161309983dup	MPZ	Duplication (genic upstream transcript variant)	Charcot-Marie-Tooth disease type 1B	GLikely pathogenic
Select item 237875	NM_000530.8(MPZ):c.200G>A (p.Arg67His)	MPZ (R67H)	Single nucleotide variant (missense variant)	Neuropathy, congenital hypomyelinating, 2 +8 more	GConflicting classifications of pathogenicity
Select item 217234	NM_000530.8(MPZ):c.646-10_650del	MPZ	Deletion (splice acceptor variant)	Charcot-Marie-Tooth disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 217233	NM_000530.8(MPZ):c.410G>A (p.Gly137Asp)	MPZ (G137D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B	GPathogenic
Select item 216963	NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)	MPZ (P151T)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 208244	NP_000521.1(MPZ):p.Asn116Ser	MPZ	Protein only	Charcot-Marie-Tooth disease type 1B	GPathogenic
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 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 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 208146	NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)	MPZ (D61N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic
Select item 138242	NM_000530.8(MPZ):c.600G>A (p.Gly200=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1B +8 more	GBenign
Select item 129619	NM_000530.8(MPZ):c.684C>T (p.Ser228=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +8 more	GBenign/Likely benign
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 41026	NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)	MPZ (N116S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 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 41023	NM_000530.8(MPZ):c.588dup (p.Met197fs)	MPZ (M197fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 1B	Gnot provided
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 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	GConflicting classifications of pathogenicity
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, type I +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)	Charcot-Marie-Tooth disease type 2I +4 more	GPathogenic/Likely pathogenic
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 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 41014	NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)	MPZ (I30T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GLikely pathogenic
Select item 14200	NM_000530.8(MPZ):c.276G>A (p.Val92=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely pathogenic
Select item 14198	NM_000530.8(MPZ):c.367G>A (p.Gly123Ser)	MPZ (G123S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 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 I +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)	not provided +9 more	GPathogenic
Select item 14187	NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)	MPZ (G103E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 14186	NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)	MPZ (N131K)	Single nucleotide variant (missense variant)	not provided +1 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 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 dominant intermediate D +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, type I +1 more	GPathogenic
Select item 14177	NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)	MPZ (S63F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GPathogenic/Likely pathogenic
Select item 14176	NM_000530.8(MPZ):c.293G>A (p.Arg98His)	MPZ (R98H)	Single nucleotide variant (missense variant)	Distal lower limb amyotrophy +10 more	GPathogenic/Likely pathogenic
Select item 14175	NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)	MPZ (R98C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B +2 more	GPathogenic
Select item 14174	NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)	MPZ (R98P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 14173	NM_000530.8(MPZ):c.409G>A (p.Gly137Ser)	MPZ (G137S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 14172	NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)	MPZ (I135T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 2