GRID2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579188	GRCh38/hg38 4q22.1(chr4:92303869-92304842)x0	GRID2	Copy number loss	Autosomal recessive spinocerebellar ataxia 18	GPathogenic
Select item 1278181	NM_001510.4(GRID2):c.-317C>T	GRID2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 3053254	NM_001510.4(GRID2):c.21C>T (p.Leu7=)	GRID2	Single nucleotide variant (synonymous variant)	GRID2-related disorder	GLikely benign
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 620343	NM_001510.4(GRID2):c.53G>A (p.Trp18Ter)	GRID2 (W18*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 1419994	NM_001510.4(GRID2):c.62C>T (p.Ala21Val)	GRID2 (A21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 759966	NM_001510.4(GRID2):c.75G>C (p.Ser25=)	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 2064428	NM_001510.4(GRID2):c.87C>T (p.Ile29=)	GRID2	Single nucleotide variant (synonymous variant)	GRID2-related disorder +1 more	GBenign/Likely benign
Select item 1722914	NM_001510.4(GRID2):c.88+30A>T	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242806	NM_001510.4(GRID2):c.88+179C>G	GRID2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 180134	NC_000004.12:g.92491792_92826931del	GRID2	Deletion	Autosomal recessive spinocerebellar ataxia 18	GPathogenic
Select item 145841	GRCh38/hg38 4q22.1(chr4:92535045-92633791)x1	GRID2	Copy number loss	See cases	GLikely benign
Select item 180133	NC_000004.12:g.92559959_92610106del	GRID2	Deletion	Autosomal recessive spinocerebellar ataxia 18	GPathogenic
Select item 153468	GRCh38/hg38 4q22.1-22.2(chr4:92566333-92938641)x1	GRID2	Copy number loss	See cases	GUncertain significance
Select item 545306	NC_000004.12:g.(?_92590068)_(92732357_?)del	GRID2	Deletion	Schizophrenia	GLikely pathogenic
Select item 2979555	NM_001510.4(GRID2):c.89-11C>T	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086058	NM_001510.4(GRID2):c.89-4C>T	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2262925	NM_001510.4(GRID2):c.117G>T (p.Lys39Asn)	GRID2 (K39N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031990	NM_001510.4(GRID2):c.121G>T (p.Asp41Tyr)	GRID2 (D41Y)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 18	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 1929028	NM_001510.4(GRID2):c.163GAG[1] (p.Glu56del)	GRID2 (E56del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 710626	NM_001510.4(GRID2):c.177G>A (p.Gln59=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1321117	NM_001510.4(GRID2):c.203C>T (p.Thr68Met)	GRID2 (T68M)	Single nucleotide variant (missense variant)	GRID2-related disorder +1 more	GBenign/Likely benign
Select item 726179	NM_001510.4(GRID2):c.204G>A (p.Thr68=)	GRID2	Single nucleotide variant (synonymous variant)	GRID2-related disorder +1 more	GLikely benign
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 1293383	NM_001510.4(GRID2):c.244+44G>A	GRID2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225508	NM_001510.4(GRID2):c.244+113G>C	GRID2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293384	NM_001510.4(GRID2):c.244+247del	GRID2	Deletion (intron variant)	not provided	GBenign
Select item 150660	GRCh38/hg38 4q22.1-22.2(chr4:92736560-92865617)x1	GRID2	Copy number loss	See cases	GLikely benign
Select item 154885	GRCh38/hg38 4q22.1-22.2(chr4:92751875-93073656)x1	GRID2	Copy number loss	See cases	GLikely benign
Select item 2571209	NM_001510.4(GRID2):c.244+232466_244+232475dup	GRID2	Duplication (intron variant)	not provided	GBenign
Select item 155066	GRCh38/hg38 4q22.2(chr4:92833132-93124343)x1	GRID2	Copy number loss	See cases	GLikely pathogenic
Select item 156925	NM_001510.3(GRID2):c.245-219371_245-58043del	GRID2	Deletion	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 545307	NC_000004.12:g.(?_92930845)_(93092974_?)del	GRID2	Deletion	Schizophrenia	GLikely pathogenic
Select item 155120	GRCh38/hg38 4q22.2(chr4:92948705-93234197)x1	GRID2	Copy number loss	See cases	GUncertain significance
Select item 180131	NC_000004.12:g.93013415_93157863del	GRID2	Deletion	Autosomal recessive spinocerebellar ataxia 18	GPathogenic
Select item 1287072	NM_001510.4(GRID2):c.245-276C>G	GRID2	Single nucleotide variant (intron variant)	not provided	GBenign
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 797371	NM_001510.4(GRID2):c.273G>A (p.Leu91=)	GRID2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 726497	NM_001510.4(GRID2):c.290T>C (p.Ile97Thr)	GRID2 (I97T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 1981186	NM_001510.4(GRID2):c.299C>T (p.Thr100Met)	GRID2 (T100M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 776000	NM_001510.4(GRID2):c.300G>A (p.Thr100=)	GRID2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 2096167	NM_001510.4(GRID2):c.331G>A (p.Ala111Thr)	GRID2 (A111T)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 2007522	NM_001510.4(GRID2):c.387T>G (p.Ser129Arg)	GRID2 (S129R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 746116	NM_001510.4(GRID2):c.417T>C (p.Asn139=)	GRID2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 728283	NM_001510.4(GRID2):c.483A>T (p.Thr161=)	GRID2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 1900250	NM_001510.4(GRID2):c.529G>A (p.Asp177Asn)	GRID2 (D177N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 736369	NM_001510.4(GRID2):c.529+10T>C	GRID2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 180132	NM_001510.3(GRID2):c.530-12057_735+24661del36924	GRID2	Deletion	Autosomal recessive spinocerebellar ataxia 18	GPathogenic
Select item 2802304	NM_001510.4(GRID2):c.558C>T (p.Asp186=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 930201	NM_001510.4(GRID2):c.568C>T (p.Gln190Ter)	GRID2 (Q190* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 18	GPathogenic
Select item 2076785	NM_001510.4(GRID2):c.577A>G (p.Met193Val)	GRID2 (M193V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1331258	NM_001510.4(GRID2):c.587C>A (p.Ala196Glu)	GRID2 (A101E +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 795954	NM_001510.4(GRID2):c.654A>G (p.Glu218=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925212	NM_001510.4(GRID2):c.661A>C (p.Asn221His)	GRID2 (N221H +1 more)	Single nucleotide variant (missense variant)	not provided	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 488523	NM_001510.4(GRID2):c.671G>A (p.Arg224Gln)	GRID2 (R224Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 18	GLikely pathogenic
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 1174447	NM_001510.4(GRID2):c.735+21G>C	GRID2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177889	NM_001510.4(GRID2):c.735+196T>C	GRID2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179346	NM_001510.4(GRID2):c.736-249C>T	GRID2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3005774	NM_001510.4(GRID2):c.741G>A (p.Val247=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1989188	NM_001510.4(GRID2):c.790-13T>C	GRID2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1992002	NM_001510.4(GRID2):c.798C>T (p.Asn266=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1935299	NM_001510.4(GRID2):c.806A>T (p.Asp269Val)	GRID2 (D269V +1 more)	Single nucleotide variant (missense variant)	not provided	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 2987910	NM_001510.4(GRID2):c.855G>T (p.Arg285=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789174	NM_001510.4(GRID2):c.855G>A (p.Arg285=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 500424	NM_001510.4(GRID2):c.876G>C (p.Gln292His)	GRID2 (Q292H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 430178	NM_001510.4(GRID2):c.899G>A (p.Arg300His)	GRID2 (R300H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 800978	NM_001510.4(GRID2):c.910C>T (p.Arg304Ter)	GRID2 (R304* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 18	GLikely pathogenic
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 1326194	NM_001510.4(GRID2):c.963+110A>G	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253877	NM_001510.4(GRID2):c.963+180A>T	GRID2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2712214	NM_001510.4(GRID2):c.964-10G>A	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 714244	NM_001510.4(GRID2):c.978C>T (p.Tyr326=)	GRID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1932578	NM_001510.4(GRID2):c.1099C>T (p.Arg367Cys)	GRID2 (R272C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2094811	NM_001510.4(GRID2):c.1107G>A (p.Met369Ile)	GRID2 (M274I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943295	NM_001510.4(GRID2):c.1125+8C>T	GRID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267357	NM_001510.4(GRID2):c.1125+167A>G	GRID2	Single nucleotide variant (intron variant)	not provided	GBenign

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