ClinVar for Gene (Select 2891) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234910	NM_001083619.3(GRIA2):c.1147C>T (p.Pro383Ser)	GRIA2 (P336S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GUncertain significance
Select item 3102319	NM_001083619.3(GRIA2):c.487G>T (p.Ala163Ser)	GRIA2 (A163S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102318	NM_001083619.3(GRIA2):c.289G>A (p.Val97Ile)	GRIA2 (V97I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102317	NM_001083619.3(GRIA2):c.2093C>T (p.Ala698Val)	GRIA2 (A651V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3102316	NM_001083619.3(GRIA2):c.1598C>T (p.Pro533Leu)	GRIA2 (P533L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102315	NM_001083619.3(GRIA2):c.1158T>G (p.Ile386Met)	GRIA2 (I386M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064042	NM_001083619.3(GRIA2):c.1155+2T>C	GRIA2	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	Gnot provided
Select item 3063917	NM_001083619.3(GRIA2):c.390C>T (p.Pro130=)	GRIA2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3063728	NM_001083619.3(GRIA2):c.720+19A>T	GRIA2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3055138	NM_001083619.3(GRIA2):c.968G>A (p.Arg323Gln)	GRIA2 (R276Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3051768	NM_001083619.3(GRIA2):c.688G>A (p.Val230Ile)	GRIA2 (V183I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025865	NM_001083619.3(GRIA2):c.1761A>C (p.Glu587Asp)	GRIA2 (E540D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024812	NM_001083619.3(GRIA2):c.802T>G (p.Ser268Ala)	GRIA2 (S221A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
Select item 2920713	NM_001083619.3(GRIA2):c.2263dup (p.Ile755fs)	GRIA2 (I755fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GPathogenic
Select item 2695391	NM_001083619.3(GRIA2):c.655A>G (p.Ile219Val)	GRIA2 (I219V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692488	NM_001083619.3(GRIA2):c.1667G>A (p.Gly556Glu)	GRIA2 (G509E +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2683746	NM_001083619.3(GRIA2):c.1883T>C (p.Phe628Ser)	GRIA2 (F581S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 2681304	NM_001083619.3(GRIA2):c.413G>A (p.Ser138Asn)	GRIA2 (S138N +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2663161	NM_001083619.3(GRIA2):c.2233G>A (p.Gly745Ser)	GRIA2 (G698S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655157	NM_001083619.3(GRIA2):c.*34G>C	GRIA2	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2655156	NM_001083619.3(GRIA2):c.1590G>A (p.Lys530=)	GRIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655155	NM_001083619.3(GRIA2):c.1123A>G (p.Ile375Val)	GRIA2 (I328V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2655154	NM_001083619.3(GRIA2):c.469+8A>G	GRIA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2655153	NM_001083619.3(GRIA2):c.246G>A (p.Ser82=)	GRIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636259	NM_001083619.3(GRIA2):c.523G>C (p.Val175Leu)	GRIA2 (V128L +1 more)	Single nucleotide variant (missense variant)	GRIA2-related disorder	GUncertain significance
Select item 2635603	NM_001083619.3(GRIA2):c.796G>A (p.Asp266Asn)	GRIA2 (D219N +1 more)	Single nucleotide variant (missense variant)	GRIA2-related disorder	GUncertain significance
Select item 2633622	NM_001083619.3(GRIA2):c.340C>T (p.Pro114Ser)	GRIA2 (P114S +1 more)	Single nucleotide variant (missense variant)	GRIA2-related disorder	GUncertain significance
Select item 2633363	NM_001083619.3(GRIA2):c.2230G>T (p.Val744Phe)	GRIA2 (V697F +1 more)	Single nucleotide variant (missense variant)	GRIA2-related disorder	GUncertain significance
Select item 2626929	NM_001083619.3(GRIA2):c.2059G>T (p.Val687Leu)	GRIA2 (V640L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2584460	NM_001083619.3(GRIA2):c.1916C>G (p.Ala639Gly)	GRIA2 (A592G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 2584383	NM_001083619.3(GRIA2):c.2188A>T (p.Asn730Tyr)	GRIA2 (N683Y +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 2583024	NM_001083619.3(GRIA2):c.384G>A (p.Met128Ile)	GRIA2 (M128I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2576699	NM_001083619.3(GRIA2):c.142A>G (p.Met48Val)	GRIA2 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576545	NM_001083619.3(GRIA2):c.830G>A (p.Trp277Ter)	GRIA2 (W230* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 2576017	NM_001083619.3(GRIA2):c.1948A>G (p.Met650Val)	GRIA2 (M603V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572220	NM_001083619.3(GRIA2):c.1849C>T (p.Leu617Phe)	GRIA2 (L570F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571687	NM_001083619.3(GRIA2):c.455A>G (p.Tyr152Cys)	GRIA2 (Y105C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559780	NM_001083619.3(GRIA2):c.1433C>G (p.Thr478Arg)	GRIA2 (T478R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539164	NM_001083619.3(GRIA2):c.110C>T (p.Ala37Val)	GRIA2 (A37V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522967	NM_001083619.3(GRIA2):c.1489A>G (p.Ile497Val)	GRIA2 (I450V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504536	NM_001083619.3(GRIA2):c.2437G>C (p.Val813Leu)	GRIA2 (V766L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503145	NM_001083619.3(GRIA2):c.65T>G (p.Val22Gly)	GRIA2 (V22G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2501002	NM_001083619.3(GRIA2):c.1940T>C (p.Val647Ala)	GRIA2 (V600A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GPathogenic
Select item 2501001	NM_001083619.3(GRIA2):c.1859G>A (p.Arg620His)	GRIA2 (R573H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 2501000	NM_001083619.3(GRIA2):c.1760A>C (p.Glu587Ala)	GRIA2 (E540A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GUncertain significance
Select item 2500999	NM_001083619.3(GRIA2):c.1523A>T (p.Glu508Val)	GRIA2 (E461V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GUncertain significance
Select item 2500451	NM_001083619.3(GRIA2):c.2446G>A (p.Val816Ile)	GRIA2 (V769I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2478684	NM_001083619.3(GRIA2):c.1411T>C (p.Tyr471His)	GRIA2 (Y424H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466505	NM_001083619.3(GRIA2):c.1151G>A (p.Arg384Gln)	GRIA2 (R337Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2446639	NM_001083619.3(GRIA2):c.23C>A (p.Ser8Tyr)	GRIA2 (S8Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2443436	NM_001083619.3(GRIA2):c.70T>C (p.Ser24Pro)	GRIA2 (S24P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2441934	NM_001083619.3(GRIA2):c.1924G>C (p.Ala642Pro)	GRIA2 (A595P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GUncertain significance
Select item 2432276	NM_001083619.3(GRIA2):c.882+5G>C	GRIA2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GUncertain significance
Select item 2432275	NM_001083619.3(GRIA2):c.14T>C (p.Met5Thr)	GRIA2 (M5T)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GUncertain significance
Select item 2402766	NM_001083619.3(GRIA2):c.2297C>T (p.Ala766Val)	GRIA2 (A766V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381644	NM_001083619.3(GRIA2):c.2382C>G (p.Cys794Trp)	GRIA2 (C747W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2322981	NM_001083619.3(GRIA2):c.1391C>G (p.Thr464Arg)	GRIA2 (T464R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284471	NM_001083619.3(GRIA2):c.490G>T (p.Val164Leu)	GRIA2 (V164L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284106	NM_001083619.3(GRIA2):c.2441C>T (p.Ala814Val)	GRIA2 (A814V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283684	NM_001083619.3(GRIA2):c.1142A>G (p.Asn381Ser)	GRIA2 (N334S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232088	NM_001083619.3(GRIA2):c.547A>C (p.Ile183Leu)	GRIA2 (I136L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230843	NM_001083619.3(GRIA2):c.1267-4A>G	GRIA2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2225283	NM_001083619.3(GRIA2):c.2406+424A>C	GRIA2 (N768H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208610	NM_001083619.3(GRIA2):c.862G>T (p.Ala288Ser)	GRIA2 (A288S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136083	NM_001083619.3(GRIA2):c.287C>G (p.Ser96Cys)	GRIA2 (S96C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878575	NM_001083619.3(GRIA2):c.1199C>T (p.Thr400Ile)	GRIA2 (T353I +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GUncertain significance
Select item 1805142	NM_001083619.3(GRIA2):c.2491G>C (p.Ala831Pro)	GRIA2 (A784P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GUncertain significance
Select item 1803979	NM_001083619.3(GRIA2):c.1589_1619dup (p.Asp540delinsGluValGlnThrArgSerValPheLeuSerTer)	GRIA2	Duplication (nonsense)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GPathogenic
Select item 1800962	NM_001083619.3(GRIA2):c.13A>T (p.Met5Leu)	GRIA2 (M5L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1800526	NM_001083619.3(GRIA2):c.436G>A (p.Asp146Asn)	GRIA2 (D146N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708230	NM_001083619.3(GRIA2):c.699C>A (p.Tyr233Ter)	GRIA2 (Y186* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GPathogenic
Select item 1708089	NM_001083619.3(GRIA2):c.1396G>T (p.Val466Phe)	GRIA2 (V419F +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GUncertain significance
Select item 1702678	NM_001083619.3(GRIA2):c.2406+437T>G	GRIA2 (L725W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1701891	NM_001083619.3(GRIA2):c.2350A>G (p.Lys784Glu)	GRIA2 (K737E +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 1701007	NM_001083619.3(GRIA2):c.2375G>A (p.Gly792Glu)	GRIA2 (G745E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1700092	NM_001083619.3(GRIA2):c.1710C>A (p.Tyr570Ter)	GRIA2 (Y523* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GLikely pathogenic
Select item 1700091	NM_001083619.3(GRIA2):c.2296G>A (p.Ala766Thr)	GRIA2 (A719T +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay	GLikely pathogenic
Select item 1698825	NM_001083619.3(GRIA2):c.506del (p.Ala169fs)	GRIA2 (A122fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GPathogenic
Select item 1698168	NM_001083619.3(GRIA2):c.1984A>G (p.Lys662Glu)	GRIA2 (K615E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690458	NM_001083619.3(GRIA2):c.515A>G (p.Lys172Arg)	GRIA2 (K125R +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1685861	NM_001083619.3(GRIA2):c.1927G>A (p.Ala643Thr)	GRIA2 (A596T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GPathogenic
Select item 1684780	NM_001083619.3(GRIA2):c.2505C>A (p.Phe835Leu)	GRIA2 (F788L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1683514	NM_001083619.3(GRIA2):c.1025T>C (p.Val342Ala)	GRIA2 (V295A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GUncertain significance
Select item 1679184	NM_001083619.3(GRIA2):c.1589A>T (p.Lys530Met)	GRIA2 (K483M +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 1675968	NM_001083619.3(GRIA2):c.1742G>A (p.Arg581Lys)	GRIA2 (R534K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355734	NM_001083619.3(GRIA2):c.1543C>T (p.Pro515Ser)	GRIA2 (P468S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334662	NM_001083619.3(GRIA2):c.1126A>G (p.Met376Val)	GRIA2 (M329V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331263	NM_001083619.3(GRIA2):c.2528C>T (p.Ala843Val)	GRIA2 (A796V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320832	NM_001083619.3(GRIA2):c.2081A>G (p.Tyr694Cys)	GRIA2 (Y647C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320197	NM_001083619.3(GRIA2):c.1958_1960delinsTCTACAGCAC (p.Pro653fs)	GRIA2 (P606fs +1 more)	Indel (frameshift variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 1319934	NM_001083619.3(GRIA2):c.1150C>T (p.Arg384Trp)	GRIA2 (R337W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1318970	NM_001083619.3(GRIA2):c.787G>A (p.Val263Met)	GRIA2 (V216M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316169	NM_001083619.3(GRIA2):c.1123_1125delinsTCAAAACTA (p.Ile375delinsSerLysLeu)	GRIA2	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1304824	NM_001083619.3(GRIA2):c.2044-19C>T	GRIA2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities +1 more	GBenign/Likely benign
Select item 1298972	NM_001083619.3(GRIA2):c.651C>T (p.Asn217=)	GRIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1266895	NM_001083619.3(GRIA2):c.687T>C (p.His229=)	GRIA2	Single nucleotide variant (synonymous variant)	not provided	GBenign

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