"Ambry Genetics"[submitter] AND "GRIA4"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2247686	NM_000829.4(GRIA4):c.2407A>G (p.Lys803Glu)	GRIA4 (K803E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2484324	NM_000829.4(GRIA4):c.2491G>A (p.Val831Met)	GRIA4 (V831M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241823	NM_000829.4(GRIA4):c.2537G>A (p.Arg846Lys)	GRIA4 (R846K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 974624	NM_000829.4(GRIA4):c.2615G>A (p.Arg872His)	GRIA4 (R872H)	Single nucleotide variant (missense variant +2 more)	GRIA4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1010152	NM_000829.4(GRIA4):c.2617G>A (p.Val873Ile)	GRIA4 (V873I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2483440	NM_000829.4(GRIA4):c.2624C>T (p.Thr875Met)	GRIA4 (T875M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2218781	NM_000829.4(GRIA4):c.2657C>T (p.Thr886Ile)	GRIA4 (T886I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 22