GRIA2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 58047	GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3	C4orf46, ETFDH +56 more	Copy number gain	See cases	GPathogenic
Select item 155554	GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3	LOC112939921, LOC121725192 +84 more	Copy number gain	See cases	GLikely pathogenic
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 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 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 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 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 780113	NM_001083619.3(GRIA2):c.90G>T (p.Gly30=)	GRIA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3282687	NM_001083619.3(GRIA2):c.105G>C (p.Arg35Ser)	GRIA2 (R35S)	Single nucleotide variant (missense variant +1 more)	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 720333	NM_001083619.3(GRIA2):c.126T>C (p.Ser42=)	GRIA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1064416	NM_001083619.3(GRIA2):c.140G>A (p.Gly47Glu)	GRIA2 (G47E)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GUncertain significance
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 3369157	NM_001083619.3(GRIA2):c.181C>G (p.His61Asp)	GRIA2 (H14D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655153	NM_001083619.3(GRIA2):c.246G>A (p.Ser82=)	GRIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1174085	NM_001083619.3(GRIA2):c.258del (p.Val85_Tyr86insTer)	GRIA2	Deletion (nonsense)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GPathogenic
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 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 792825	NM_001083619.3(GRIA2):c.324C>T (p.His108=)	GRIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2583024	NM_001083619.3(GRIA2):c.384G>A (p.Met128Ile)	GRIA2 (M128I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3063917	NM_001083619.3(GRIA2):c.390C>T (p.Pro130=)	GRIA2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3282684	NM_001083619.3(GRIA2):c.398A>G (p.Lys133Arg)	GRIA2 (K86R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2681304	NM_001083619.3(GRIA2):c.413G>A (p.Ser138Asn)	GRIA2 (S138N +1 more)	Single nucleotide variant (missense variant)	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 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 2655154	NM_001083619.3(GRIA2):c.469+8A>G	GRIA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 3373481	NM_001083619.3(GRIA2):c.517T>C (p.Trp173Arg)	GRIA2 (W126R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 985838	NM_001083619.3(GRIA2):c.572T>G (p.Met191Arg)	GRIA2 (M144R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3371539	NM_001083619.3(GRIA2):c.599A>G (p.Glu200Gly)	GRIA2 (E153G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298972	NM_001083619.3(GRIA2):c.651C>T (p.Asn217=)	GRIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1266895	NM_001083619.3(GRIA2):c.687T>C (p.His229=)	GRIA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 3063728	NM_001083619.3(GRIA2):c.720+19A>T	GRIA2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1098705	NM_001083619.3(GRIA2):c.739C>G (p.Leu247Val)	GRIA2 (L200V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	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 756529	NM_001083619.3(GRIA2):c.789G>A (p.Val263=)	GRIA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3024812	NM_001083619.3(GRIA2):c.802T>G (p.Ser268Ala)	GRIA2 (S221A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 744017	NM_001083619.3(GRIA2):c.804G>A (p.Ser268=)	GRIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722703	NM_001083619.3(GRIA2):c.805T>C (p.Leu269=)	GRIA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 748214	NM_001083619.3(GRIA2):c.838C>T (p.Leu280=)	GRIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 742480	NM_001083619.3(GRIA2):c.883-10T>C	GRIA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 774618	NM_001083619.3(GRIA2):c.891T>C (p.Ser297=)	GRIA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 929839	NM_001083619.3(GRIA2):c.905A>G (p.Asp302Gly)	GRIA2 (D302G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
Select item 1012507	NM_001083619.3(GRIA2):c.967C>T (p.Arg323Ter)	GRIA2 (R276* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with language impairment and behavioral abnormalities +1 more	GLikely pathogenic
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 3370155	NM_001083619.3(GRIA2):c.977A>G (p.Asn326Ser)	GRIA2 (N279S +1 more)	Single nucleotide variant (missense variant)	not provided	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 3341979	NM_001083619.3(GRIA2):c.1050+113C>T	GRIA2	Single nucleotide variant (intron 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 1316169	NM_001083619.3(GRIA2):c.1123_1125delinsTCAAAACTA (p.Ile375delinsSerLysLeu)	GRIA2	Indel (inframe_indel)	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 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 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 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 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 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 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 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 3282685	NM_001083619.3(GRIA2):c.1244C>T (p.Thr415Ile)	GRIA2 (T415I +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 740420	NM_001083619.3(GRIA2):c.1275G>A (p.Pro425=)	GRIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 985452	NM_001083619.3(GRIA2):c.1418C>T (p.Ala473Val)	GRIA2 (A426V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 929840	NM_001083619.3(GRIA2):c.1582C>A (p.Pro528Thr)	GRIA2 (P528T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GLikely pathogenic
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 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 2655156	NM_001083619.3(GRIA2):c.1590G>A (p.Lys530=)	GRIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3372717	NM_001083619.3(GRIA2):c.1595A>G (p.Lys532Arg)	GRIA2 (K485R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 985474	NM_001083619.3(GRIA2):c.1628C>G (p.Ala543Gly)	GRIA2 (A496G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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