GRIN3A[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 2403046	NM_133445.3(GRIN3A):c.3208G>A (p.Val1070Ile)	GRIN3A (V1070I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713863	NM_133445.3(GRIN3A):c.3185A>G (p.Asn1062Ser)	GRIN3A (N1062S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2381717	NM_133445.3(GRIN3A):c.3176G>A (p.Arg1059Gln)	GRIN3A (R1059Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518979	NM_133445.3(GRIN3A):c.3121C>T (p.Arg1041Trp)	GRIN3A (R1041W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540126	NM_133445.3(GRIN3A):c.3101G>T (p.Gly1034Val)	GRIN3A (G1034V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773510	NM_133445.3(GRIN3A):c.3085T>C (p.Phe1029Leu)	GRIN3A (F1029L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2215314	NM_133445.3(GRIN3A):c.3037G>A (p.Val1013Ile)	GRIN3A (V1013I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267001	NM_133445.3(GRIN3A):c.2866T>C (p.Tyr956His)	GRIN3A (Y956H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353366	NM_133445.3(GRIN3A):c.2775A>T (p.Gln925His)	GRIN3A (Q925H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463114	NM_147180.4(PPP3R2):c.449T>C (p.Phe150Ser)	GRIN3A, PPP3R2 (F150S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402261	NM_147180.4(PPP3R2):c.400G>T (p.Asp134Tyr)	GRIN3A, PPP3R2 (D134Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359339	NM_147180.4(PPP3R2):c.196G>A (p.Gly66Ser)	PPP3R2, GRIN3A (G66S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210300	NM_147180.4(PPP3R2):c.187G>A (p.Asp63Asn)	GRIN3A, PPP3R2 (D63N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344432	NM_147180.4(PPP3R2):c.145C>G (p.Leu49Val)	PPP3R2, GRIN3A (L49V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373794	NM_147180.4(PPP3R2):c.140C>G (p.Pro47Arg)	PPP3R2, GRIN3A (P47R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383059	NM_147180.4(PPP3R2):c.86A>G (p.Lys29Arg)	GRIN3A, PPP3R2 (K29R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226346	NM_147180.4(PPP3R2):c.-5C>G	PPP3R2, GRIN3A	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258474	NM_133445.3(GRIN3A):c.2731G>C (p.Val911Leu)	GRIN3A (V911L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377596	NM_133445.3(GRIN3A):c.2564T>C (p.Ile855Thr)	GRIN3A (I855T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369867	NM_133445.3(GRIN3A):c.2181G>T (p.Leu727Phe)	GRIN3A (L727F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621894	NM_133445.3(GRIN3A):c.2003C>G (p.Ala668Gly)	GRIN3A (A668G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360617	NM_133445.3(GRIN3A):c.1979G>A (p.Arg660Gln)	GRIN3A (R660Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473451	NM_133445.3(GRIN3A):c.1921G>T (p.Val641Leu)	GRIN3A (V641L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216127	NM_133445.3(GRIN3A):c.1900A>G (p.Ile634Val)	GRIN3A (I634V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689166	NM_133445.3(GRIN3A):c.1744G>T (p.Asp582Tyr)	GRIN3A (D582Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2523280	NM_133445.3(GRIN3A):c.1694A>G (p.Asn565Ser)	GRIN3A (N565S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480445	NM_133445.3(GRIN3A):c.1643C>T (p.Thr548Ile)	GRIN3A (T548I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496325	NM_133445.3(GRIN3A):c.1639A>G (p.Met547Val)	GRIN3A (M547V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324310	NM_133445.3(GRIN3A):c.1637C>A (p.Pro546His)	GRIN3A (P546H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288564	NM_133445.3(GRIN3A):c.1562T>G (p.Ile521Ser)	GRIN3A (I521S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345326	NM_133445.3(GRIN3A):c.1516C>A (p.His506Asn)	GRIN3A (H506N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459471	NM_133445.3(GRIN3A):c.1478A>T (p.Tyr493Phe)	GRIN3A (Y493F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233657	NM_133445.3(GRIN3A):c.1369G>A (p.Val457Ile)	GRIN3A (V457I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2346904	NM_133445.3(GRIN3A):c.1358G>T (p.Gly453Val)	GRIN3A (G453V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239086	NM_133445.3(GRIN3A):c.1358G>A (p.Gly453Asp)	GRIN3A (G453D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309892	NM_133445.3(GRIN3A):c.1237A>T (p.Ile413Phe)	GRIN3A (I413F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555831	NM_133445.3(GRIN3A):c.1199T>C (p.Val400Ala)	GRIN3A (V400A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611315	NM_133445.3(GRIN3A):c.1198G>A (p.Val400Ile)	GRIN3A (V400I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351890	NM_133445.3(GRIN3A):c.1189G>A (p.Ala397Thr)	GRIN3A (A397T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516800	NM_133445.3(GRIN3A):c.1162T>A (p.Tyr388Asn)	GRIN3A (Y388N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299251	NM_133445.3(GRIN3A):c.1046C>T (p.Pro349Leu)	GRIN3A (P349L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545299	NM_133445.3(GRIN3A):c.1010G>T (p.Arg337Leu)	GRIN3A (R337L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389472	NM_133445.3(GRIN3A):c.611G>A (p.Gly204Asp)	GRIN3A (G204D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1801772	NM_133445.3(GRIN3A):c.439T>A (p.Ser147Thr)	GRIN3A (S147T)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 2209485	NM_133445.3(GRIN3A):c.412G>T (p.Val138Leu)	GRIN3A (V138L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312161	NM_133445.3(GRIN3A):c.349G>A (p.Ala117Thr)	GRIN3A (A117T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2303195	NM_133445.3(GRIN3A):c.246G>T (p.Glu82Asp)	GRIN3A (E82D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289064	NM_133445.3(GRIN3A):c.246G>C (p.Glu82Asp)	GRIN3A (E82D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306113	NM_133445.3(GRIN3A):c.200G>C (p.Arg67Pro)	GRIN3A (R67P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365296	NM_133445.3(GRIN3A):c.121C>A (p.Leu41Ile)	GRIN3A (L41I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466820	NM_133445.3(GRIN3A):c.58C>T (p.Pro20Ser)	GRIN3A (P20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063058	GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1	ABCA1, ALDOB +34 more	Copy number loss	not specified	GPathogenic
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2422164	NC_000009.11:g.(?_104124710)_(104500261_?)del	ZNF189, ALDOB +6 more	Deletion	Hereditary fructosuria	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	MSANTD3, MSANTD3-TMEFF1 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 1341248	GRCh37/hg19 9q31.1-31.2(chr9:102858276-110624997)x3	ABCA1, ALDOB +34 more	Copy number gain	not provided	GUncertain significance
Select item 997816	Single allele	PRXL2C, TBC1D2 +55 more	Deletion	Intellectual disability	GPathogenic
Select item 979862	GRCh37/hg19 9q31.1(chr9:103872812-104974365)x3	GRIN3A, ALDOB +6 more	Copy number gain	not provided	GUncertain significance
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394229	GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1	ABCA1, ABITRAM +48 more	Copy number loss	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 88