"Ambry Genetics"[submitter] AND "AGAP3"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2395195	NM_031946.7(AGAP3):c.149C>T (p.Ser50Leu)	AGAP3 (S50L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2518248	NM_031946.7(AGAP3):c.172C>T (p.Pro58Ser)	AGAP3 (P58S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2251234	NM_031946.7(AGAP3):c.516G>T (p.Gln172His)	AGAP3 (Q172H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474745	NM_031946.7(AGAP3):c.931G>A (p.Val311Met)	AGAP3 (V491M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344365	NM_031946.7(AGAP3):c.946A>G (p.Ile316Val)	AGAP3 (I316V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525435	NM_031946.7(AGAP3):c.974C>T (p.Thr325Met)	AGAP3 (T97M +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2322965	NM_031946.7(AGAP3):c.1031G>A (p.Ser344Asn)	AGAP3 (S116N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2610623	NM_031946.7(AGAP3):c.1106A>G (p.Lys369Arg)	AGAP3 (K549R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2367130	NM_031946.7(AGAP3):c.1165G>A (p.Ala389Thr)	AGAP3 (A389T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397240	NM_031946.7(AGAP3):c.1238G>A (p.Arg413Gln)	AGAP3 (R67Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397332	NM_031946.7(AGAP3):c.1240A>C (p.Ser414Arg)	AGAP3 (S68R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237096	NM_031946.7(AGAP3):c.1508C>T (p.Ser503Leu)	AGAP3 (S503L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602200	NM_031946.7(AGAP3):c.1519G>A (p.Ala507Thr)	AGAP3 (A161T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2243445	NM_031946.7(AGAP3):c.1571G>A (p.Arg524His)	AGAP3 (R524H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466929	NM_031946.7(AGAP3):c.1654A>G (p.Met552Val)	AGAP3 (M552V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230542	NM_031946.7(AGAP3):c.1823A>G (p.Glu608Gly)	AGAP3 (E505G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359142	NM_031946.7(AGAP3):c.1828G>T (p.Val610Leu)	AGAP3 (V161L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458497	NM_031946.7(AGAP3):c.1943G>A (p.Arg648His)	AGAP3 (R302H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595372	NM_031946.7(AGAP3):c.2041G>A (p.Asp681Asn)	AGAP3 (D681N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485394	NM_031946.7(AGAP3):c.2099G>A (p.Cys700Tyr)	AGAP3 (C251Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464038	NM_031946.7(AGAP3):c.2168C>T (p.Pro723Leu)	AGAP3 (P274L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476319	NM_031946.7(AGAP3):c.2455G>A (p.Asp819Asn)	AGAP3 (D488N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618888	NM_031946.7(AGAP3):c.2560C>T (p.Arg854Trp)	AGAP3 (R751W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467431	NM_031946.7(AGAP3):c.2690G>A (p.Gly897Asp)	AGAP3 (G448D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484616	NM_031946.7(AGAP3):c.2699C>T (p.Pro900Leu)	AGAP3 (P554L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 25