4359[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	LOC129931764, LY9 +63 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 1246332	NC_000001.11:g.161304658G>C	MPZ	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
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 293299	NM_000530.8(MPZ):c.*1048A>T	MPZ	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 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 293302	NM_000530.8(MPZ):c.*901GA[7]	MPZ	Microsatellite (3 prime UTR variant)	Charcot-Marie-Tooth, Intermediate +4 more	GBenign
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 293303	NM_000530.8(MPZ):c.*858T>C	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth, Intermediate +3 more	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 293310	NM_000530.8(MPZ):c.*195G>T	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1B +6 more	GConflicting classifications of pathogenicity
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 243058	NC_000001.11:g.161305808_161309983dup	MPZ	Duplication (genic upstream transcript variant)	Charcot-Marie-Tooth disease type 1B	GLikely pathogenic
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 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 917384	NM_000530.8(MPZ):c.*1C>T	MPZ (R250W)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GLikely benign
Select item 971953	NM_000530.8(MPZ):c.745T>C (p.Ter249Gln)	MPZ	Single nucleotide variant (stop lost)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2079408	NM_000530.8(MPZ):c.742A>G (p.Lys248Glu)	MPZ (K248E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 637339	NM_000530.8(MPZ):c.742A>T (p.Lys248Ter)	MPZ (K248*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 756962	NM_000530.8(MPZ):c.738T>C (p.Asp246=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 637929	NM_000530.8(MPZ):c.736G>A (p.Asp246Asn)	MPZ (D246N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 234764	NM_000530.8(MPZ):c.731G>T (p.Arg244Leu)	MPZ (R244L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3203644	NM_000530.8(MPZ):c.730C>T (p.Arg244Cys)	MPZ (R244C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1758245	NM_000530.8(MPZ):c.730C>A (p.Arg244Ser)	MPZ (R244S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2037077	NM_000530.8(MPZ):c.728C>T (p.Ser243Phe)	MPZ (S243F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1757909	NM_000530.8(MPZ):c.724del (p.Glu242fs)	MPZ (E242fs)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 581092	NM_000530.8(MPZ):c.722G>C (p.Gly241Ala)	MPZ (G241A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 3203638	NM_000530.8(MPZ):c.719T>A (p.Leu240Gln)	MPZ (L240Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2890423	NM_000530.8(MPZ):c.714G>C (p.Lys238Asn)	MPZ (K238N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 531707	NM_000530.8(MPZ):c.708G>A (p.Lys236=)	MPZ	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 447734	NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	MPZ (K236del)	Microsatellite (inframe_deletion)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 637766	NM_000530.8(MPZ):c.706A>G (p.Lys236Glu)	MPZ (K236E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917148	NM_000530.8(MPZ):c.704A>G (p.Lys235Arg)	MPZ (K235R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 1488518	NM_000530.8(MPZ):c.703A>G (p.Lys235Glu)	MPZ (K235E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 817625	NM_000530.8(MPZ):c.699_702del (p.Ser233fs)	MPZ (S233fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 839368	NM_000530.8(MPZ):c.700G>T (p.Glu234Ter)	MPZ (E234*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 374017	NM_000530.8(MPZ):c.699T>G (p.Ser233Arg)	MPZ (S233R)	Single nucleotide variant (missense variant)	Roussy-Lévy syndrome +4 more	GLikely pathogenic
Select item 1304367	NM_000530.8(MPZ):c.692C>A (p.Ala231Asp)	MPZ (A231D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357553	NM_000530.8(MPZ):c.691G>A (p.Ala231Thr)	MPZ (A231T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 546614	NM_000530.8(MPZ):c.691G>C (p.Ala231Pro)	MPZ (A231P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097054	NM_000530.8(MPZ):c.687C>T (p.Thr229=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2198125	NM_000530.8(MPZ):c.685A>G (p.Thr229Ala)	MPZ (T229A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 129619	NM_000530.8(MPZ):c.684C>T (p.Ser228=)	MPZ	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 1476502	NM_000530.8(MPZ):c.683G>A (p.Ser228Asn)	MPZ (S228N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	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, type I +2 more	GPathogenic/Likely pathogenic
Select item 637802	NM_000530.8(MPZ):c.679A>G (p.Arg227Gly)	MPZ (R227G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637791	NM_000530.8(MPZ):c.679A>T (p.Arg227Ter)	MPZ (R227*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 1308149	NM_000530.8(MPZ):c.675C>A (p.His225Gln)	MPZ (H225Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 41024	NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)	MPZ (D224Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic/Likely pathogenic
Select item 1616708	NM_000530.8(MPZ):c.663A>G (p.Ala221=)	MPZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 637794	NM_000530.8(MPZ):c.661_662dup (p.Met222fs)	MPZ (M222fs)	Duplication (frameshift variant)	Dejerine-Sottas disease	GUncertain significance
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 637792	NM_000530.8(MPZ):c.661G>A (p.Ala221Thr)	MPZ (A221T)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease	GUncertain significance
Select item 917379	NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys)	MPZ (Y220C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 2033569	NM_000530.8(MPZ):c.646-16_654dup	MPZ	Duplication (splice acceptor variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 739540	NM_000530.8(MPZ):c.655C>T (p.Leu219=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 756550	NM_000530.8(MPZ):c.654G>A (p.Val218=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 3068891	NM_000530.8(MPZ):c.651A>G (p.Pro217=)	MPZ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 834444	NM_000530.8(MPZ):c.649C>G (p.Pro217Ala)	MPZ (P217A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
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 2737051	NM_000530.8(MPZ):c.648G>C (p.Thr216=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2032838	NM_000530.8(MPZ):c.648G>A (p.Thr216=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 757242	NM_000530.8(MPZ):c.648G>T (p.Thr216=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 462798	NM_000530.8(MPZ):c.646dup (p.Thr216fs)	MPZ (T216fs)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 14171	NM_000530.8(MPZ):c.646-7_647delinsGCAGGAGAG	MPZ	Indel (splice acceptor variant)	Charcot-Marie-Tooth disease type 1B	GPathogenic
Select item 2899263	NM_000530.8(MPZ):c.646A>G (p.Thr216Ala)	MPZ (T216A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1183966	NM_000530.8(MPZ):c.646-2A>C	MPZ	Single nucleotide variant (splice acceptor variant)	Peripheral neuropathy	GLikely pathogenic
Select item 996769	NM_000530.8(MPZ):c.646-2A>G	MPZ	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 811914	NM_000530.8(MPZ):c.646-3C>G	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 373619	NM_000530.8(MPZ):c.646-3C>A	MPZ	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 845063	NM_000530.8(MPZ):c.646-5C>A	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 643350	NM_000530.8(MPZ):c.646-5C>G	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 704206	NM_000530.8(MPZ):c.646-7C>T	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 447732	NM_000530.8(MPZ):c.646-7C>G	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I +2 more	GConflicting classifications of pathogenicity
Select item 2705474	NM_000530.8(MPZ):c.646-12C>A	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 1999133	NM_000530.8(MPZ):c.646-20T>G	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 1294157	NM_000530.8(MPZ):c.646-29G>C	MPZ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 390997	NM_000530.8(MPZ):c.645+12T>C	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
Select item 917387	NM_000530.8(MPZ):c.645+10A>G	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 637484	NM_000530.8(MPZ):c.645+2dup	MPZ	Duplication (splice donor 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 1005403	NM_000530.8(MPZ):c.645G>A (p.Gln215=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 14178	NM_000530.8(MPZ):c.643C>T (p.Gln215Ter)	MPZ (Q215*)	Single nucleotide variant (nonsense)	Neuropathy, congenital hypomyelinating, 2	GPathogenic
Select item 2983691	NM_000530.8(MPZ):c.641G>T (p.Arg214Leu)	MPZ (R214L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance

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