Related gene-specific medical variations for Gene (Select 2906) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383418	NM_000836.4(GRIN2D):c.163C>G (p.Leu55Val)	GRIN2D, LOC130064855 (L55V)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3360791	NM_000836.4(GRIN2D):c.1840C>A (p.Arg614Ser)	GRIN2D (R614S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359483	NM_000836.4(GRIN2D):c.3943C>T (p.His1315Tyr)	GRIN2D (H1315Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251287	NM_000836.4(GRIN2D):c.157G>A (p.Val53Met)	GRIN2D, LOC130064855 (V53M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065167	NM_000836.4(GRIN2D):c.3910G>T (p.Gly1304Trp)	GRIN2D (G1304W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GUncertain significance
Select item 3032552	NM_000836.4(GRIN2D):c.198G>C (p.Ala66=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	GRIN2D-related disorder	GLikely benign
Select item 3031480	NM_000836.4(GRIN2D):c.1877C>G (p.Thr626Ser)	GRIN2D, LOC130064857 (T626S)	Single nucleotide variant (missense variant)	GRIN2D-related disorder	GUncertain significance
Select item 3000273	NM_000836.4(GRIN2D):c.1939G>A (p.Val647Met)	GRIN2D, LOC130064857 (V647M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989884	NM_000836.4(GRIN2D):c.146G>T (p.Arg49Leu)	GRIN2D, LOC130064855 (R49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979405	NM_000836.4(GRIN2D):c.122C>T (p.Pro41Leu)	GRIN2D, LOC130064855 (P41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976721	NM_000836.4(GRIN2D):c.1953G>A (p.Arg651=)	GRIN2D, LOC130064857	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971357	NM_000836.4(GRIN2D):c.465+17C>T	GRIN2D, LOC130064856	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962642	NM_000836.4(GRIN2D):c.150G>A (p.Pro50=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956745	NM_000836.4(GRIN2D):c.465+9G>A	GRIN2D, LOC130064856	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920710	NM_000836.4(GRIN2D):c.2599C>T (p.His867Tyr)	GRIN2D (H867Y)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2872490	NM_000836.4(GRIN2D):c.141G>T (p.Gly47=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858682	NM_000836.4(GRIN2D):c.364C>A (p.Arg122Ser)	GRIN2D, LOC130064856 (R122S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833981	NM_000836.4(GRIN2D):c.165C>A (p.Leu55=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832677	NM_000836.4(GRIN2D):c.122C>G (p.Pro41Arg)	GRIN2D, LOC130064855 (P41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831034	NM_000836.4(GRIN2D):c.200C>T (p.Ala67Val)	GRIN2D, LOC130064855 (A67V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828927	NM_000836.4(GRIN2D):c.465+12CGGGG[4]	GRIN2D, LOC130064856	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2794806	NM_000836.4(GRIN2D):c.445G>A (p.Ala149Thr)	GRIN2D, LOC130064856 (A149T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792451	NM_000836.4(GRIN2D):c.109G>A (p.Gly37Arg)	GRIN2D, LOC130064855 (G37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790684	NM_000836.4(GRIN2D):c.413C>T (p.Ser138Leu)	GRIN2D, LOC130064856 (S138L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743786	NM_000836.4(GRIN2D):c.1932G>T (p.Ser644=)	GRIN2D, LOC130064857	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705911	NM_000836.4(GRIN2D):c.408G>C (p.Gln136His)	GRIN2D, LOC130064856 (Q136H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700661	NM_000836.4(GRIN2D):c.1894T>G (p.Ser632Ala)	GRIN2D, LOC130064857 (S632A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689165	NM_000836.4(GRIN2D):c.3220C>A (p.Pro1074Thr)	GRIN2D (P1074T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GUncertain significance
Select item 2637514	NM_000836.4(GRIN2D):c.156C>A (p.Asn52Lys)	GRIN2D, LOC130064855 (N52K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2584678	NM_000836.4(GRIN2D):c.763C>G (p.Pro255Ala)	GRIN2D (P255A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GUncertain significance
Select item 2582721	NM_000836.4(GRIN2D):c.2462G>A (p.Arg821Gln)	GRIN2D (R821Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GUncertain significance
Select item 2506722	NM_000836.4(GRIN2D):c.1982T>C (p.Val661Ala)	GRIN2D, LOC130064857 (V661A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432306	NM_000836.4(GRIN2D):c.2777C>T (p.Ala926Val)	GRIN2D (A926V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GUncertain significance
Select item 2432305	NM_000836.4(GRIN2D):c.2867G>T (p.Gly956Val)	GRIN2D (G956V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GUncertain significance
Select item 2432303	NM_000836.4(GRIN2D):c.3431G>C (p.Arg1144Pro)	GRIN2D (R1144P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GUncertain significance
Select item 2432302	NM_000836.4(GRIN2D):c.3025G>T (p.Ala1009Ser)	GRIN2D (A1009S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GUncertain significance
Select item 2431944	NM_000836.4(GRIN2D):c.181G>C (p.Ala61Pro)	GRIN2D, LOC130064855 (A61P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GUncertain significance
Select item 2428937	NM_000836.4(GRIN2D):c.401C>A (p.Ser134Ter)	GRIN2D, LOC130064856 (S134*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2326243	NM_000836.4(GRIN2D):c.409A>T (p.Thr137Ser)	GRIN2D, LOC130064856 (T137S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2129000	NM_000836.4(GRIN2D):c.465+20G>A	GRIN2D, LOC130064856	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2124198	NM_000836.4(GRIN2D):c.440G>A (p.Gly147Asp)	GRIN2D, LOC130064856 (G147D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111656	NM_000836.4(GRIN2D):c.1862-8C>T	GRIN2D, LOC130064857	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2107296	NM_000836.4(GRIN2D):c.120_128dup (p.Gly43_Gly44insProGlyGly)	GRIN2D, LOC130064855	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2094760	NM_000836.4(GRIN2D):c.1991T>G (p.Phe664Cys)	GRIN2D, LOC130064857 (F664C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038363	NM_000836.4(GRIN2D):c.159G>C (p.Val53=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2027952	NM_000836.4(GRIN2D):c.363G>C (p.Ser121=)	GRIN2D, LOC130064856	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966510	NM_000836.4(GRIN2D):c.1938C>T (p.Pro646=)	LOC130064857, GRIN2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945895	NM_000836.4(GRIN2D):c.429C>G (p.Ala143=)	GRIN2D, LOC130064856	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936501	NM_000836.4(GRIN2D):c.457A>T (p.Thr153Ser)	GRIN2D, LOC130064856 (T153S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925460	NM_000836.4(GRIN2D):c.183G>C (p.Ala61=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920788	NM_000836.4(GRIN2D):c.1862-13T>C	GRIN2D, LOC130064857	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920114	NM_000836.4(GRIN2D):c.393C>T (p.Asp131=)	GRIN2D, LOC130064856	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896747	NM_000836.4(GRIN2D):c.1869C>T (p.Gly623=)	GRIN2D, LOC130064857	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878582	NM_000836.4(GRIN2D):c.191C>T (p.Ala64Val)	GRIN2D, LOC130064855 (A64V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GUncertain significance
Select item 1803557	NM_000836.4(GRIN2D):c.1951dup (p.Arg651fs)	GRIN2D, LOC130064857 (R651fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1803034	NM_000836.4(GRIN2D):c.2330C>T (p.Thr777Ile)	GRIN2D (T777I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GLikely pathogenic
Select item 1719565	NM_000836.4(GRIN2D):c.1870G>A (p.Gly624Ser)	GRIN2D, LOC130064857 (G624S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713915	NM_000836.4(GRIN2D):c.197C>G (p.Ala66Gly)	GRIN2D, LOC130064855 (A66G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701776	NM_000836.4(GRIN2D):c.3022T>C (p.Phe1008Leu)	GRIN2D (F1008L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GUncertain significance
Select item 1685871	NM_000836.4(GRIN2D):c.1997C>T (p.Ala666Val)	GRIN2D, LOC130064857 (A666V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GPathogenic
Select item 1676796	NM_000836.4(GRIN2D):c.199G>A (p.Ala67Thr)	GRIN2D, LOC130064855 (A67T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GLikely benign
Select item 1656363	NM_000836.4(GRIN2D):c.366C>G (p.Arg122=)	GRIN2D, LOC130064856	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1641105	NM_000836.4(GRIN2D):c.447G>C (p.Ala149=)	GRIN2D, LOC130064856	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1636880	NM_000836.4(GRIN2D):c.1905G>T (p.Leu635=)	GRIN2D, LOC130064857	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632739	NM_000836.4(GRIN2D):c.417G>A (p.Leu139=)	GRIN2D, LOC130064856	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1629793	NM_000836.4(GRIN2D):c.465+12C>T	GRIN2D, LOC130064856	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622759	NM_000836.4(GRIN2D):c.426G>T (p.Val142=)	GRIN2D, LOC130064856	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1609411	NM_000836.4(GRIN2D):c.414G>A (p.Ser138=)	GRIN2D, LOC130064856	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1603527	NM_000836.4(GRIN2D):c.192C>G (p.Ala64=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601080	NM_000836.4(GRIN2D):c.387C>A (p.Ile129=)	GRIN2D, LOC130064856	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1600504	NM_000836.4(GRIN2D):c.1862-6del	GRIN2D, LOC130064857	Deletion (intron variant)	not provided	GBenign
Select item 1600248	NM_000836.4(GRIN2D):c.375C>T (p.Ala125=)	GRIN2D, LOC130064856	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1567785	NM_000836.4(GRIN2D):c.369G>T (p.Ala123=)	GRIN2D, LOC130064856	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559453	NM_000836.4(GRIN2D):c.141G>A (p.Gly47=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1543865	NM_000836.4(GRIN2D):c.1950C>T (p.Pro650=)	GRIN2D, LOC130064857	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1542636	NM_000836.4(GRIN2D):c.165C>G (p.Leu55=)	GRIN2D, LOC130064855	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532348	NM_000836.4(GRIN2D):c.465+8C>T	LOC130064856, GRIN2D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1524829	NM_000836.4(GRIN2D):c.114_143dup (p.Gly39_Ala48dup)	GRIN2D, LOC130064855	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1516900	NM_000836.4(GRIN2D):c.446C>T (p.Ala149Val)	GRIN2D, LOC130064856 (A149V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494701	NM_000836.4(GRIN2D):c.436G>T (p.Gly146Cys)	GRIN2D, LOC130064856 (G146C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494193	NM_000836.4(GRIN2D):c.422T>C (p.Ile141Thr)	GRIN2D, LOC130064856 (I141T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491390	NM_000836.4(GRIN2D):c.430G>T (p.Val144Leu)	GRIN2D, LOC130064856 (V144L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491272	NM_000836.4(GRIN2D):c.193G>A (p.Glu65Lys)	GRIN2D, LOC130064855 (E65K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472745	NM_000836.4(GRIN2D):c.446C>G (p.Ala149Gly)	GRIN2D, LOC130064856 (A149G)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 1470680	NM_000836.4(GRIN2D):c.1919T>C (p.Val640Ala)	GRIN2D, LOC130064857 (V640A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468304	NM_000836.4(GRIN2D):c.412T>G (p.Ser138Ala)	GRIN2D, LOC130064856 (S138A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1467998	NM_000836.4(GRIN2D):c.136G>T (p.Gly46Cys)	GRIN2D, LOC130064855 (G46C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466659	NM_000836.4(GRIN2D):c.139G>T (p.Gly47Trp)	GRIN2D, LOC130064855 (G47W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1460829	NM_000836.4(GRIN2D):c.124G>A (p.Gly42Ser)	GRIN2D, LOC130064855 (G42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432833	NM_000836.4(GRIN2D):c.1862-7C>A	GRIN2D, LOC130064857	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1427743	NM_000836.4(GRIN2D):c.390del (p.Asp131fs)	GRIN2D, LOC130064856 (D131fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1405015	NM_000836.4(GRIN2D):c.402G>A (p.Ser134=)	GRIN2D, LOC130064856	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1398783	NM_000836.4(GRIN2D):c.194_217dup (p.Glu65_Ala72dup)	GRIN2D, LOC130064855	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1397097	NM_000836.4(GRIN2D):c.114_143del (p.Gly39_Ala48del)	GRIN2D, LOC130064855	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1367724	NM_000836.4(GRIN2D):c.380C>G (p.Ala127Gly)	LOC130064856, GRIN2D (A127G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362970	NM_000836.4(GRIN2D):c.455T>C (p.Leu152Pro)	GRIN2D, LOC130064856 (L152P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350005	NM_000836.4(GRIN2D):c.465+18G>A	GRIN2D, LOC130064856	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1314752	NM_000836.4(GRIN2D):c.460C>G (p.Pro154Ala)	GRIN2D, LOC130064856 (P154A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049495	NM_000836.4(GRIN2D):c.460C>A (p.Pro154Thr)	GRIN2D, LOC130064856 (P154T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992732	NM_000836.4(GRIN2D):c.3797C>A (p.Ala1266Glu)	GRIN2D (A1266E)	Single nucleotide variant (missense variant)	Seizure +1 more	GUncertain significance

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