4574[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	AASDHPPT, ACAT1 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	ANGPTL5, ARHGAP42 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 59773	GRCh38/hg38 11q22.3(chr11:104142626-107019997)x3	AASDHPPT, CARD16 +40 more	Copy number gain	See cases	GPathogenic
Select item 1248320	NM_000829.4(GRIA4):c.-208C>T	GRIA4	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2663109	NM_000829.4(GRIA4):c.-90-1G>C	GRIA4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2508183	NM_000829.4(GRIA4):c.5G>A (p.Arg2Lys)	GRIA4 (R2K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3048830	NM_000829.4(GRIA4):c.52C>G (p.Leu18Val)	GRIA4, LOC129390350 (L18V)	Single nucleotide variant (missense variant +1 more)	GRIA4-related condition	GLikely benign
Select item 976290	NM_000829.4(GRIA4):c.70C>T (p.Pro24Ser)	GRIA4, LOC129390350 (P24S)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 2429908	NM_000829.4(GRIA4):c.83A>C (p.Gln28Pro)	GRIA4, LOC129390350 (Q28P)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 1297477	NM_000829.4(GRIA4):c.104G>A (p.Arg35Gln)	GRIA4 (R35Q)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities +1 more	GUncertain significance
Select item 1335083	NM_000829.4(GRIA4):c.166A>C (p.Asn56His)	GRIA4 (N56H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2126806	NM_000829.4(GRIA4):c.187A>G (p.Asn63Asp)	GRIA4 (N63D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662350	NM_000829.4(GRIA4):c.211A>C (p.Ile71Leu)	GRIA4 (I71L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1802198	NM_000829.4(GRIA4):c.221C>T (p.Ala74Val)	GRIA4 (A74V)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 2582135	NM_000829.4(GRIA4):c.227G>A (p.Ser76Asn)	GRIA4 (S76N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 989314	NM_000829.4(GRIA4):c.230T>C (p.Phe77Ser)	GRIA4 (F77S)	Single nucleotide variant (missense variant +1 more)	GRIA4-related neurodevelopmental disorder	GUncertain significance
Select item 1031667	NM_000829.4(GRIA4):c.276T>A (p.Phe92Leu)	GRIA4 (F92L)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 3063971	NM_000829.4(GRIA4):c.280A>G (p.Ile94Val)	GRIA4 (I94V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1319346	NM_000829.4(GRIA4):c.311_314del (p.His104fs)	GRIA4 (H104fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2642332	NM_000829.4(GRIA4):c.312T>C (p.His104=)	GRIA4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1708322	NM_000829.4(GRIA4):c.341A>G (p.His114Arg)	GRIA4 (H114R)	Single nucleotide variant (missense variant +1 more)	See cases	GLikely pathogenic
Select item 2485401	NM_000829.4(GRIA4):c.352A>G (p.Ile118Val)	GRIA4 (I118V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1213782	NM_000829.4(GRIA4):c.364T>G (p.Phe122Val)	GRIA4 (F122V)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 2341128	NM_000829.4(GRIA4):c.376G>T (p.Gly126Trp)	GRIA4, LOC126861324 (G126W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2432278	NM_000829.4(GRIA4):c.385C>G (p.Gln129Glu)	GRIA4, LOC126861324 (Q129E)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 2500395	NM_000829.4(GRIA4):c.389T>G (p.Phe130Cys)	GRIA4, LOC126861324 (F130C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3057495	NM_000829.4(GRIA4):c.411G>A (p.Ser137=)	GRIA4, LOC126861324	Single nucleotide variant (synonymous variant +1 more)	GRIA4-related condition	GLikely benign
Select item 781814	NM_000829.4(GRIA4):c.436C>T (p.Leu146=)	GRIA4, LOC126861324	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2642333	NM_000829.4(GRIA4):c.487+44507A>C	GRIA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642334	NM_000829.4(GRIA4):c.487+44641A>G	GRIA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2249233	NM_000829.4(GRIA4):c.512T>C (p.Met171Thr)	GRIA4 (M171T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3067938	NM_000829.4(GRIA4):c.536G>A (p.Trp179Ter)	GRIA4 (W179*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GLikely pathogenic
Select item 1694645	NM_000829.4(GRIA4):c.573T>G (p.Asp191Glu)	GRIA4 (D191E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2446227	NM_000829.4(GRIA4):c.595GAA[1] (p.Glu200del)	GRIA4 (E200del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1696152	NM_000829.4(GRIA4):c.614A>G (p.Gln205Arg)	GRIA4 (Q205R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642335	NM_000829.4(GRIA4):c.662T>C (p.Ile221Thr)	GRIA4 (I221T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1696451	NM_000829.4(GRIA4):c.672+9389T>C	GRIA4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 2642336	NM_000829.4(GRIA4):c.708T>C (p.His236=)	GRIA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2050221	NM_000829.4(GRIA4):c.763G>A (p.Gly255Ser)	GRIA4 (G255S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2293405	NM_000829.4(GRIA4):c.789G>T (p.Gln263His)	GRIA4 (Q263H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067334	NM_000829.4(GRIA4):c.790T>C (p.Leu264=)	GRIA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3067241	NM_000829.4(GRIA4):c.817A>C (p.Ile273Leu)	GRIA4 (I273L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2504899	NM_000829.4(GRIA4):c.822A>T (p.Lys274Asn)	GRIA4 (K274N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3064899	NM_000829.4(GRIA4):c.833G>T (p.Arg278Leu)	GRIA4 (R278L)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 3055393	NM_000829.4(GRIA4):c.886-7T>C	GRIA4	Single nucleotide variant (intron variant)	GRIA4-related condition	GBenign
Select item 1707597	NM_000829.4(GRIA4):c.919G>A (p.Val307Met)	GRIA4 (V307M)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 2441949	NM_000829.4(GRIA4):c.931del (p.Thr311fs)	GRIA4 (T311fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 2518407	NM_000829.4(GRIA4):c.938G>A (p.Arg313Gln)	GRIA4 (R313Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3027092	NM_000829.4(GRIA4):c.949A>T (p.Arg317Trp)	GRIA4 (R317W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2458088	NM_000829.4(GRIA4):c.983C>T (p.Ala328Val)	GRIA4 (A328V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2577751	NM_000829.4(GRIA4):c.1017G>A (p.Trp339Ter)	GRIA4 (W339*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2472590	NM_000829.4(GRIA4):c.1028T>C (p.Ile343Thr)	GRIA4 (I343T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2500996	NM_000829.4(GRIA4):c.1162G>C (p.Gly388Arg)	GRIA4 (G388R)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 2558008	NM_000829.4(GRIA4):c.1166A>T (p.Tyr389Phe)	GRIA4 (Y389F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2629800	NM_000829.4(GRIA4):c.1186T>G (p.Leu396Val)	GRIA4 (L396V)	Single nucleotide variant (missense variant +1 more)	GRIA4-related condition	GUncertain significance
Select item 2574457	NM_000829.4(GRIA4):c.1211C>T (p.Thr404Ile)	GRIA4 (T404I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1694646	NM_000829.4(GRIA4):c.1216G>C (p.Gly406Arg)	GRIA4 (G406R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2232867	NM_000829.4(GRIA4):c.1231G>A (p.Ala411Thr)	GRIA4 (A411T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1012994	NM_000829.4(GRIA4):c.1234A>G (p.Ile412Val)	GRIA4 (I412V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1299675	NM_000829.4(GRIA4):c.1237G>C (p.Glu413Gln)	GRIA4 (E413Q)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 3035877	NM_000829.4(GRIA4):c.1326G>A (p.Lys442=)	GRIA4	Single nucleotide variant (synonymous variant +1 more)	GRIA4-related condition	GLikely benign
Select item 2633052	NM_000829.4(GRIA4):c.1370A>T (p.His457Leu)	GRIA4 (H457L)	Single nucleotide variant (missense variant +1 more)	GRIA4-related condition	GUncertain significance
Select item 2631197	NM_000829.4(GRIA4):c.1378A>G (p.Ile460Val)	GRIA4 (I460V)	Single nucleotide variant (missense variant +1 more)	GRIA4-related condition	GUncertain significance
Select item 1298525	NM_000829.4(GRIA4):c.1416T>C (p.Tyr472=)	GRIA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642337	NM_000829.4(GRIA4):c.1431A>C (p.Ala477=)	GRIA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642338	NM_000829.4(GRIA4):c.1433A>C (p.Asp478Ala)	GRIA4 (D478A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2432280	NM_000829.4(GRIA4):c.1477-3T>C	GRIA4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 2664837	NM_000829.4(GRIA4):c.1564A>G (p.Ile522Val)	GRIA4 (I522V)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 2692490	NM_000829.4(GRIA4):c.1661C>T (p.Ala554Val)	GRIA4 (A554V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2630432	NM_000829.4(GRIA4):c.1667T>C (p.Ile556Thr)	GRIA4 (I556T)	Single nucleotide variant (missense variant +1 more)	GRIA4-related condition	GUncertain significance
Select item 3026398	NM_000829.4(GRIA4):c.1735G>A (p.Glu579Lys)	GRIA4 (E579K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2368808	NM_000829.4(GRIA4):c.1738G>A (p.Asp580Asn)	GRIA4 (D580N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2642339	NM_000829.4(GRIA4):c.1812T>G (p.Gly604=)	GRIA4	Single nucleotide variant (synonymous variant +1 more)	GRIA4-related condition +1 more	GLikely benign
Select item 2498531	NM_000829.4(GRIA4):c.1903A>G (p.Ile635Val)	GRIA4 (I635V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 446206	NM_000829.4(GRIA4):c.1915A>T (p.Thr639Ser)	GRIA4 (T639S)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 1708272	NM_000829.4(GRIA4):c.1918G>A (p.Ala640Thr)	GRIA4 (A640T)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GLikely pathogenic
Select item 1332998	NM_000829.4(GRIA4):c.1918G>T (p.Ala640Ser)	GRIA4 (A640S)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GPathogenic
Select item 446207	NM_000829.4(GRIA4):c.1921A>G (p.Asn641Asp)	GRIA4 (N641D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 446208	NM_000829.4(GRIA4):c.1928C>G (p.Ala643Gly)	GRIA4 (A643G)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 446209	NM_000829.4(GRIA4):c.1931C>T (p.Ala644Val)	GRIA4 (A644V)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 2429492	NM_000829.4(GRIA4):c.1943T>C (p.Val648Ala)	GRIA4 (V648A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2623846	NM_000829.4(GRIA4):c.1953G>A (p.Met651Ile)	GRIA4 (M651I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1684781	NM_000829.4(GRIA4):c.1973C>T (p.Ala658Val)	GRIA4 (A658V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2571844	NM_000829.4(GRIA4):c.1975G>A (p.Glu659Lys)	GRIA4 (E659K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2431520	NM_000829.4(GRIA4):c.1985C>T (p.Ala662Val)	GRIA4 (A662V)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 2432279	NM_000829.4(GRIA4):c.1994C>G (p.Thr665Arg)	GRIA4 (T665R)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 1285554	NM_000829.4(GRIA4):c.2036A>G (p.Glu679Gly)	GRIA4 (E679G)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GUncertain significance
Select item 2627147	NM_000829.4(GRIA4):c.2047-16T>C	GRIA4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2511963	NM_000829.4(GRIA4):c.2084A>G (p.Tyr695Cys)	GRIA4 (Y695C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2500997	NM_000829.4(GRIA4):c.2090G>A (p.Arg697Gln)	GRIA4 (R697Q)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GPathogenic
Select item 446210	NM_000829.4(GRIA4):c.2090G>C (p.Arg697Pro)	GRIA4 (R697P)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with or without seizures and gait abnormalities	GLikely pathogenic
Select item 2631231	NM_000829.4(GRIA4):c.2099A>G (p.Glu700Gly)	GRIA4 (E700G)	Single nucleotide variant (missense variant +1 more)	GRIA4-related condition	GUncertain significance
Select item 2642340	NM_000829.4(GRIA4):c.2127T>C (p.Ala709=)	GRIA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 631525	NM_000829.4(GRIA4):c.2209C>T (p.Arg737Ter)	GRIA4 (R737*)	Single nucleotide variant (nonsense +1 more)	Obesity	GLikely pathogenic
Select item 1375529	NM_000829.4(GRIA4):c.2210G>A (p.Arg737Gln)	GRIA4 (R737Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2332305	NM_000829.4(GRIA4):c.2214G>C (p.Lys738Asn)	GRIA4 (K738N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2642341	NM_000829.4(GRIA4):c.2226G>T (p.Thr742=)	GRIA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 769218	NM_000829.4(GRIA4):c.2293= (p.Arg765=)	GRIA4	Variation (no sequence alteration +1 more)	not provided	GBenign

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