ClinVar for Gene (Select 4311) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295243	NM_007289.4(MME):c.2235G>T (p.Lys745Asn)	MME (K745N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295242	NM_007289.4(MME):c.1345G>C (p.Glu449Gln)	MME (E449Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295241	NM_007289.4(MME):c.2155A>G (p.Ile719Val)	MME (I719V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295240	NM_007289.4(MME):c.1799A>G (p.Asp600Gly)	MME (D600G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252599	NM_007289.4(MME):c.2035G>T (p.Asp679Tyr)	MME (D679Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251357	NM_007289.4(MME):c.548C>G (p.Thr183Arg)	MME (T183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247007	NC_000003.11:g.(?_154858078)_(155056072_?)del	MME	Deletion	not provided	GPathogenic
Select item 3247006	NC_000003.11:g.(?_154864930)_(154876652_?)del	MME	Deletion	not provided	GPathogenic
Select item 3246972	NC_000003.11:g.(?_154834637)_(156272878_?)del	C3orf33, GMPS +5 more	Deletion	not provided	GUncertain significance
Select item 3237366	NM_007289.4(MME):c.238T>C (p.Cys80Arg)	MME (C80R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2T	GLikely pathogenic
Select item 3236116	NM_007289.4(MME):c.1821G>A (p.Trp607Ter)	MME (W607*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2T	GLikely pathogenic
Select item 3233785	NC_000003.11:g.(?_154798107)_(154802884_154832782)del	MME	Deletion	Charcot-Marie-Tooth disease axonal type 2T	GPathogenic
Select item 3218709	NM_007289.4(MME):c.997A>G (p.Thr333Ala)	MME (T333A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218512	NM_007289.4(MME):c.55A>G (p.Lys19Glu)	MME (K19E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217983	NM_007289.4(MME):c.2071G>A (p.Ala691Thr)	MME (A691T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069067	NM_007289.4(MME):c.1064T>A (p.Leu355His)	MME (L355H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064216	NM_007289.4(MME):c.2122A>T (p.Lys708Ter)	MME (K708*)	Single nucleotide variant (nonsense)	MME-related distal hereditary motor neuropathies	GPathogenic
Select item 3063958	NM_007289.4(MME):c.1557A>C (p.Gln519His)	MME (Q519H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063734	NM_007289.4(MME):c.993G>T (p.Met331Ile)	MME (M331I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3019338	NM_007289.4(MME):c.1229G>A (p.Arg410His)	MME (R410H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2T +1 more	GUncertain significance
Select item 3015508	NM_007289.4(MME):c.189A>C (p.Ile63=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013894	NM_007289.4(MME):c.799A>T (p.Asn267Tyr)	MME (N267Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010574	NM_007289.4(MME):c.1188+13T>A	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010253	NM_007289.4(MME):c.1689del (p.Phe564fs)	MME (F564fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3008892	NM_007289.4(MME):c.1980+22del	MME	Deletion (intron variant)	not provided	GLikely benign
Select item 3007785	NM_007289.4(MME):c.1500G>A (p.Leu500=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005685	NM_007289.4(MME):c.1416+16C>T	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005298	NM_007289.4(MME):c.1149C>G (p.Leu383=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004722	NM_007289.4(MME):c.2178T>G (p.Ser726=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000253	NM_007289.4(MME):c.1645G>T (p.Gly549Ter)	MME (G549*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2T +2 more	GPathogenic
Select item 2991998	NM_007289.4(MME):c.1781-7A>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990375	NM_007289.4(MME):c.1781-10T>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989562	NM_007289.4(MME):c.1599T>C (p.Asp533=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988391	NM_007289.4(MME):c.1602-12T>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986610	NM_007289.4(MME):c.1781-7A>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986496	NM_007289.4(MME):c.1188+16C>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978939	NM_007289.4(MME):c.1660+12T>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977599	NM_007289.4(MME):c.2154-10del	MME	Deletion (intron variant)	not provided	GLikely benign
Select item 2973965	NM_007289.4(MME):c.1095-7T>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973926	NM_007289.4(MME):c.440-13T>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970571	NM_007289.4(MME):c.792C>T (p.Ile264=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960813	NM_007289.4(MME):c.711C>A (p.Ile237=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959099	NM_007289.4(MME):c.2076+19T>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955804	NM_007289.4(MME):c.721-8del	MME	Deletion (intron variant)	not provided	GBenign
Select item 2916237	NM_007289.4(MME):c.1770C>T (p.Phe590=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905120	NM_007289.4(MME):c.1602-4A>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900705	NM_007289.4(MME):c.78A>G (p.Pro26=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898477	NM_007289.4(MME):c.600T>C (p.Leu200=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894108	NM_007289.4(MME):c.287T>C (p.Val96Ala)	MME (V96A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883909	NM_007289.4(MME):c.11C>G (p.Ser4Ter)	MME (S4*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2881448	NM_007289.4(MME):c.439+1G>A	MME	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2878612	NM_007289.4(MME):c.258T>C (p.Tyr86=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876072	NM_007289.4(MME):c.535+19T>A	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874466	NM_007289.4(MME):c.312C>A (p.Tyr104Ter)	MME (Y104*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2872754	NM_007289.4(MME):c.721-16T>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871049	NM_007289.4(MME):c.439+9T>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871047	NM_007289.4(MME):c.655-7T>A	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868346	NM_007289.4(MME):c.1030_1039dup (p.Tyr347fs)	MME (Y347fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2868167	NM_007289.4(MME):c.2076+15T>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856572	NM_007289.4(MME):c.1417-13A>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850600	NM_007289.4(MME):c.2076+1G>A	MME	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2849571	NM_007289.4(MME):c.358+15T>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848911	NM_007289.4(MME):c.1189-15T>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842396	NM_007289.4(MME):c.1604G>A (p.Trp535Ter)	MME (W535*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2835536	NM_007289.4(MME):c.855+9C>T	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826050	NM_007289.4(MME):c.439+7G>A	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809615	NM_007289.4(MME):c.1449T>C (p.Pro483=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805648	NM_007289.4(MME):c.958-10T>C	MME	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2801511	NM_007289.4(MME):c.2153+16C>T	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800958	NM_007289.4(MME):c.1400del (p.Lys467fs)	MME (K467fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2795665	NM_007289.4(MME):c.1914+14A>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790881	NM_007289.4(MME):c.1094+18C>A	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790420	NM_007289.4(MME):c.1035T>A (p.Val345=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786389	NM_007289.4(MME):c.1395A>C (p.Thr465=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785399	NM_007289.4(MME):c.1575G>A (p.Lys525=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784033	NM_007289.4(MME):c.1915-16G>T	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778846	NM_007289.4(MME):c.1601+2T>C	MME	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2772313	NM_007289.4(MME):c.439+12T>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768496	NM_007289.4(MME):c.117C>G (p.Thr39=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768332	NM_007289.4(MME):c.655-5dup	MME	Duplication (intron variant)	not provided	GBenign
Select item 2767622	NM_007289.4(MME):c.1452T>C (p.Asp484=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767037	NM_007289.4(MME):c.721-20G>A	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766250	NM_007289.4(MME):c.1887_1888del (p.Ser630fs)	MME (S630fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2759674	NM_007289.4(MME):c.1066A>T (p.Lys356Ter)	MME (K356*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2751588	NM_007289.4(MME):c.19dup (p.Gln7fs)	MME (Q7fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2750964	NM_007289.4(MME):c.407C>A (p.Ala136Glu)	MME (A136E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748519	NM_007289.4(MME):c.957+1G>A	MME	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2748323	NM_007289.4(MME):c.1660+9T>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718227	NM_007289.4(MME):c.381T>A (p.Thr127=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715734	NM_007289.4(MME):c.771T>C (p.Arg257=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709659	NM_007289.4(MME):c.2181A>G (p.Ala727=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705687	NM_007289.4(MME):c.1158C>G (p.Thr386=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695515	NM_007289.4(MME):c.1718T>A (p.Leu573Ter)	MME (L573*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2691702	NM_007289.4(MME):c.1601+4C>T	MME	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2682847	NM_007289.4(MME):c.378A>T (p.Lys126Asn)	MME (K126N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2664314	NM_007289.4(MME):c.1892G>A (p.Trp631Ter)	MME (W631*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2T	GLikely pathogenic
Select item 2664077	NM_007289.4(MME):c.329T>G (p.Leu110Ter)	MME (L110*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2T	GLikely pathogenic
Select item 2654247	NM_007289.4(MME):c.2163G>A (p.Gly721=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654246	NM_007289.4(MME):c.984T>C (p.Asn328=)	MME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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