"Ambry Genetics"[submitter] AND "GRIA3"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 167157	NM_000828.4(GRIA3):c.-2G=	GRIA3	Duplication (5 prime UTR variant)	Inborn genetic diseases +3 more	GBenign
Select item 624438	NM_007325.5(GRIA3):c.2T>C (p.Met1Thr)	GRIA3 (M1T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 129166	NM_007325.5(GRIA3):c.15G>A (p.Lys5=)	GRIA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 1785891	NM_007325.5(GRIA3):c.20T>C (p.Met7Thr)	GRIA3 (M7T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985615	NM_007325.5(GRIA3):c.40G>A (p.Ala14Thr)	GRIA3 (A14T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1481649	NM_007325.5(GRIA3):c.69G>C (p.Leu23Phe)	GRIA3 (L23F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 522027	NM_007325.5(GRIA3):c.159T>G (p.Phe53Leu)	GRIA3 (F53L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 435359	NM_007325.5(GRIA3):c.159T>C (p.Phe53=)	GRIA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1606462	NM_007325.5(GRIA3):c.285G>A (p.Ser95=)	GRIA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 708291	NM_007325.5(GRIA3):c.390C>T (p.Pro130=)	GRIA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 281521	NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr)	GRIA3 (A133T)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +2 more	GConflicting classifications of pathogenicity
Select item 1216409	NM_007325.5(GRIA3):c.419A>G (p.Gln140Arg)	GRIA3 (Q140R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1525892	NM_007325.5(GRIA3):c.430G>A (p.Ala144Thr)	GRIA3 (A144T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1745782	NM_007325.5(GRIA3):c.516C>T (p.Ser172=)	GRIA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2535002	NM_007325.5(GRIA3):c.527C>G (p.Ala176Gly)	GRIA3 (A176G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1478668	NM_007325.5(GRIA3):c.587T>C (p.Ile196Thr)	GRIA3 (I196T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1186565	NM_007325.5(GRIA3):c.647G>A (p.Arg216Gln)	GRIA3 (R216Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1495851	NM_007325.5(GRIA3):c.696+5G>A	GRIA3	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1976245	NM_007325.5(GRIA3):c.770T>C (p.Leu257Pro)	GRIA3 (L257P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1513036	NM_007325.5(GRIA3):c.967T>C (p.Tyr323His)	GRIA3 (Y323H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2478534	NM_007325.5(GRIA3):c.997C>T (p.Arg333Trp)	GRIA3 (R333W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1794702	NM_007325.5(GRIA3):c.1009G>A (p.Ala337Thr)	GRIA3 (A337T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 589164	NM_007325.5(GRIA3):c.1125T>C (p.Tyr375=)	GRIA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 742582	NM_007325.5(GRIA3):c.1158T>C (p.Tyr386=)	GRIA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 493545	NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr)	GRIA3 (K389T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1527932	NM_007325.5(GRIA3):c.1180C>T (p.Arg394Ter)	GRIA3 (R394*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 198752	NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln)	GRIA3 (R394Q)	Single nucleotide variant (missense variant)	GRIA3-related condition +4 more	GBenign/Likely benign
Select item 129167	NM_007325.5(GRIA3):c.1200T>C (p.Asn400=)	GRIA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 1764249	NM_007325.5(GRIA3):c.1266del (p.Arg423fs)	GRIA3 (R423fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1772282	NM_007325.5(GRIA3):c.1422C>T (p.Ile474=)	GRIA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 585951	NM_007325.5(GRIA3):c.1440T>C (p.Tyr480=)	GRIA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 520927	NM_007325.5(GRIA3):c.1502G>C (p.Arg501Thr)	GRIA3 (R501T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1302833	NM_007325.5(GRIA3):c.1755CAA[1] (p.Asn587del)	GRIA3 (N587del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1780243	NM_007325.5(GRIA3):c.1794T>A (p.Asp598Glu)	GRIA3 (D598E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589379	NM_007325.5(GRIA3):c.1850T>C (p.Met617Thr)	GRIA3 (M617T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1781810	NM_007325.5(GRIA3):c.1878-3T>C	GRIA3	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 521549	NM_007325.5(GRIA3):c.1940C>T (p.Ser647Phe)	GRIA3 (S647F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985234	NM_007325.5(GRIA3):c.1952A>G (p.Asn651Ser)	GRIA3 (N651S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 383739	NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr)	GRIA3 (A653T)	Single nucleotide variant (missense variant)	Disrupted sleep-wake cycle with developmental delay and learning difficulty +3 more	GConflicting classifications of pathogenicity
Select item 522052	NM_007325.5(GRIA3):c.1980G>C (p.Arg660Ser)	GRIA3 (R660S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1645225	NM_007325.5(GRIA3):c.2097C>T (p.Tyr699=)	GRIA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 1786425	NM_007325.5(GRIA3):c.2132C>A (p.Pro711Gln)	GRIA3 (P711Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1786997	NM_007325.5(GRIA3):c.2167_2175del (p.Ala723_Val725del)	GRIA3	Deletion (inframe_deletion)	Inborn genetic diseases	GLikely pathogenic
Select item 589203	NM_007325.5(GRIA3):c.2219T>C (p.Met740Thr)	GRIA3 (M740T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 521132	NM_007325.5(GRIA3):c.2321T>C (p.Leu774Ser)	GRIA3 (L774S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1792705	NM_007325.5(GRIA3):c.2531T>C (p.Ile844Thr)	GRIA3 (I844T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 46