ClinVar for Gene (Select 2895) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363136	NM_001510.4(GRID2):c.800A>T (p.Asp267Val)	GRID2 (D172V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 18	GUncertain significance
Select item 3360924	NM_001510.4(GRID2):c.2490C>A (p.Ser830Arg)	GRID2 (S735R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3282710	NM_001510.4(GRID2):c.2303G>A (p.Arg768Gln)	GRID2 (R768Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282709	NM_001510.4(GRID2):c.2033C>T (p.Pro678Leu)	GRID2 (P678L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282708	NM_001510.4(GRID2):c.2436C>G (p.Asp812Glu)	GRID2 (D717E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282706	NM_001510.4(GRID2):c.2841A>T (p.Lys947Asn)	GRID2 (K947N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282705	NM_001510.4(GRID2):c.2587G>A (p.Val863Ile)	GRID2 (V768I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282704	NM_001510.4(GRID2):c.1171G>A (p.Gly391Arg)	GRID2 (G391R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282703	NM_001510.4(GRID2):c.767G>A (p.Cys256Tyr)	GRID2 (C256Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102360	NM_001510.4(GRID2):c.668A>G (p.Tyr223Cys)	GRID2 (Y223C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102359	NM_001510.4(GRID2):c.612C>G (p.Ile204Met)	GRID2 (I109M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102358	NM_001510.4(GRID2):c.515A>G (p.Tyr172Cys)	GRID2 (Y172C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102357	NM_001510.4(GRID2):c.3008G>A (p.Arg1003Gln)	GRID2 (R908Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102356	NM_001510.4(GRID2):c.299C>G (p.Thr100Arg)	GRID2 (T100R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102355	NM_001510.4(GRID2):c.260A>G (p.Asn87Ser)	GRID2 (N87S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102354	NM_001510.4(GRID2):c.2573G>A (p.Arg858Lys)	GRID2 (R858K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102353	NM_001510.4(GRID2):c.2303G>T (p.Arg768Leu)	GRID2 (R768L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102352	NM_001510.4(GRID2):c.1960G>A (p.Ala654Thr)	GRID2 (A654T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3102351	NM_001510.4(GRID2):c.1496C>A (p.Pro499Gln)	GRID2 (P499Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102350	NM_001510.4(GRID2):c.1226T>C (p.Leu409Pro)	GRID2 (L314P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062799	GRCh37/hg19 4q22.2(chr4:94213349-94400816)x1	GRID2	Copy number loss	not specified	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3057774	NM_001510.4(GRID2):c.2193+4C>T	GRID2	Single nucleotide variant (intron variant)	GRID2-related disorder	GLikely benign
Select item 3053254	NM_001510.4(GRID2):c.21C>T (p.Leu7=)	GRID2	Single nucleotide variant (synonymous variant)	GRID2-related disorder	GLikely benign
Select item 3042771	NM_001510.4(GRID2):c.2559G>A (p.Thr853=)	GRID2	Single nucleotide variant (synonymous variant)	GRID2-related disorder	GLikely benign
Select item 3034013	NM_001510.4(GRID2):c.309A>G (p.Gly103=)	GRID2	Single nucleotide variant (synonymous variant +1 more)	GRID2-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3023923	NM_001510.4(GRID2):c.778A>G (p.Ile260Val)	GRID2 (I165V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3022834	NM_001510.4(GRID2):c.1859-11T>G	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005774	NM_001510.4(GRID2):c.741G>A (p.Val247=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005464	NM_001510.4(GRID2):c.1246-6T>G	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004248	NM_001510.4(GRID2):c.1447G>C (p.Gly483Arg)	GRID2 (G483R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987910	NM_001510.4(GRID2):c.855G>T (p.Arg285=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985488	NM_001510.4(GRID2):c.2361-7T>A	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982748	NM_001510.4(GRID2):c.1545+19A>G	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979555	NM_001510.4(GRID2):c.89-11C>T	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970622	NM_001510.4(GRID2):c.2664C>T (p.Asp888=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963429	NM_001510.4(GRID2):c.1581T>A (p.Thr527=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954970	NM_001510.4(GRID2):c.1347+13T>A	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921265	NM_001510.4(GRID2):c.1100G>A (p.Arg367His)	GRID2 (R272H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 18	GUncertain significance
Select item 2920787	NM_001510.4(GRID2):c.101A>G (p.Asp34Gly)	GRID2 (D34G)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 18	GUncertain significance
Select item 2904812	NM_001510.4(GRID2):c.1476G>A (p.Pro492=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898171	NM_001510.4(GRID2):c.414G>A (p.Arg138=)	GRID2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896294	NM_001510.4(GRID2):c.1521C>T (p.Gly507=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895022	NM_001510.4(GRID2):c.84C>T (p.His28=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869142	NM_001510.4(GRID2):c.2360+15T>C	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827371	NM_001510.4(GRID2):c.1768C>A (p.Leu590Ile)	GRID2 (L495I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802304	NM_001510.4(GRID2):c.558C>T (p.Asp186=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799020	NM_001510.4(GRID2):c.1546-16T>A	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760125	NM_001510.4(GRID2):c.1245+10G>A	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712214	NM_001510.4(GRID2):c.964-10G>A	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685981	GRCh37/hg19 4q22.1(chr4:91296256-93417077)x3	CCSER1, GRID2	Copy number gain	not provided	GUncertain significance
Select item 2685980	GRCh37/hg19 4q22.1-22.2(chr4:90821342-93994597)x3	CCSER1, GRID2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2654952	NM_001510.4(GRID2):c.2325A>G (p.Gln775=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654951	NM_001510.4(GRID2):c.1077C>A (p.Asn359Lys)	GRID2 (N264K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2621577	NM_001510.4(GRID2):c.950C>T (p.Ala317Val)	GRID2 (A222V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2619088	NM_001510.4(GRID2):c.40T>A (p.Trp14Arg)	GRID2 (W14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602274	NM_001510.4(GRID2):c.133C>T (p.Arg45Cys)	GRID2 (R45C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597137	NM_001510.4(GRID2):c.2479G>A (p.Asp827Asn)	GRID2 (D827N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579890	NM_001510.4(GRID2):c.2032C>G (p.Pro678Ala)	GRID2 (P583A +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 2579188	GRCh38/hg38 4q22.1(chr4:92303869-92304842)x0	GRID2	Copy number loss	Autosomal recessive spinocerebellar ataxia 18	GPathogenic
Select item 2574317	NM_001510.4(GRID2):c.1945A>T (p.Thr649Ser)	GRID2 (T554S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571209	NM_001510.4(GRID2):c.244+232466_244+232475dup	GRID2	Duplication (intron variant)	not provided	GBenign
Select item 2512949	NM_001510.4(GRID2):c.2241A>T (p.Glu747Asp)	GRID2 (E652D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502412	NM_001510.4:c.1246-278_2193+35240del	GRID2	Deletion	Autosomal recessive spinocerebellar ataxia 18	GUncertain significance
Select item 2502411	NM_001510.4:c.790-271_1245+268del	GRID2	Deletion	Autosomal recessive spinocerebellar ataxia 18	GUncertain significance
Select item 2495987	NM_001510.4(GRID2):c.2706G>C (p.Leu902Phe)	GRID2 (L807F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492682	NM_001510.4(GRID2):c.808G>A (p.Val270Ile)	GRID2 (V270I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474190	NM_001510.4(GRID2):c.888G>C (p.Gln296His)	GRID2 (Q201H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446023	NM_001510.4(GRID2):c.1945A>G (p.Thr649Ala)	GRID2 (T554A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 18 +1 more	GPathogenic/Likely pathogenic
Select item 2441778	NM_001510.4(GRID2):c.-62C>T	GRID2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 18	GUncertain significance
Select item 2424193	NC_000004.11:g.(?_93225808)_(93511457_?)dup	GRID2	Duplication	not provided	GUncertain significance
Select item 2424192	NC_000004.11:g.(?_94006126)_(94032124_?)del	GRID2	Deletion	not provided	GPathogenic
Select item 2424191	NC_000004.11:g.(?_93511262)_(93511457_?)del	GRID2	Deletion	not provided	GPathogenic
Select item 2414293	NM_001510.4(GRID2):c.3023G>A (p.Ter1008=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2401795	NM_001510.4(GRID2):c.1861G>A (p.Gly621Arg)	GRID2 (G526R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388002	NM_001510.4(GRID2):c.799G>A (p.Asp267Asn)	GRID2 (D267N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387891	NM_001510.4(GRID2):c.212A>C (p.Asp71Ala)	GRID2 (D71A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380744	NM_001510.4(GRID2):c.2824C>T (p.Arg942Cys)	GRID2 (R847C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369200	NM_001510.4(GRID2):c.2226T>G (p.Asp742Glu)	GRID2 (D647E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361170	NM_001510.4(GRID2):c.355A>G (p.Ile119Val)	GRID2 (I119V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352798	NM_001510.4(GRID2):c.2609A>G (p.Lys870Arg)	GRID2 (K870R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351263	NM_001510.4(GRID2):c.1775C>T (p.Pro592Leu)	GRID2 (P497L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335198	NM_001510.4(GRID2):c.517G>C (p.Asp173His)	GRID2 (D173H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296698	NM_001510.4(GRID2):c.2995A>G (p.Asn999Asp)	GRID2 (N904D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278308	NM_001510.4(GRID2):c.62C>A (p.Ala21Glu)	GRID2 (A21E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275090	NM_001510.4(GRID2):c.2141G>A (p.Arg714Gln)	GRID2 (R619Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262925	NM_001510.4(GRID2):c.117G>T (p.Lys39Asn)	GRID2 (K39N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237327	NM_001510.4(GRID2):c.334A>G (p.Met112Val)	GRID2 (M112V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230609	NM_001510.4(GRID2):c.2138A>G (p.Asn713Ser)	GRID2 (N618S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226159	NM_001510.4(GRID2):c.994C>T (p.Leu332Phe)	GRID2 (L237F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2221805	NM_001510.4(GRID2):c.686G>A (p.Arg229Gln)	GRID2 (R134Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212100	NM_001510.4(GRID2):c.2585G>A (p.Arg862Gln)	GRID2 (R767Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209248	NM_001510.4(GRID2):c.96T>G (p.Ile32Met)	GRID2 (I32M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191914	NM_001510.4(GRID2):c.614A>G (p.Asn205Ser)	GRID2 (N110S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190998	NM_001510.4(GRID2):c.2825G>A (p.Arg942His)	GRID2 (R942H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180680	NM_001510.4(GRID2):c.2975C>T (p.Thr992Ile)	GRID2 (T992I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173626	NM_001510.4(GRID2):c.1803G>T (p.Thr601=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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