"Ambry Genetics"[submitter] AND "ASIC2"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2335142	NM_183377.2(ASIC2):c.1670C>T (p.Thr557Ile)	ASIC2 (T506I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310951	NM_183377.2(ASIC2):c.1658C>T (p.Thr553Met)	ASIC2 (T553M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266359	NM_183377.2(ASIC2):c.1651C>G (p.Leu551Val)	ASIC2 (L551V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570314	NM_183377.2(ASIC2):c.1648C>T (p.Pro550Ser)	ASIC2 (P499S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223421	NM_183377.2(ASIC2):c.1610C>A (p.Pro537Gln)	ASIC2 (P537Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610380	NM_183377.2(ASIC2):c.1511A>G (p.Tyr504Cys)	ASIC2 (Y453C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215459	NM_183377.2(ASIC2):c.1501C>T (p.Leu501Phe)	ASIC2 (L450F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482785	NM_183377.2(ASIC2):c.1293C>G (p.Ser431Arg)	ASIC2 (S380R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557080	NM_183377.2(ASIC2):c.1205C>T (p.Ala402Val)	ASIC2 (A351V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375138	NM_183377.2(ASIC2):c.1127T>C (p.Val376Ala)	ASIC2 (V325A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205492	NM_183377.2(ASIC2):c.866C>T (p.Thr289Met)	ASIC2 (T289M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371166	NM_183377.2(ASIC2):c.857C>G (p.Thr286Arg)	ASIC2 (T286R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235919	NM_183377.2(ASIC2):c.691C>T (p.Pro231Ser)	ASIC2 (P231S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534167	NM_183377.2(ASIC2):c.653T>C (p.Met218Thr)	ASIC2 (M218T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338628	NM_183377.2(ASIC2):c.539C>T (p.Pro180Leu)	ASIC2 (P180L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210261	NM_183377.2(ASIC2):c.519G>C (p.Glu173Asp)	ASIC2 (E173D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310249	NM_183377.2(ASIC2):c.503G>A (p.Arg168His)	ASIC2 (R168H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270644	NM_183377.2(ASIC2):c.271C>A (p.Leu91Met)	ASIC2 (L91M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295932	NM_183377.2(ASIC2):c.260C>T (p.Ala87Val)	ASIC2 (A87V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301161	NM_183377.2(ASIC2):c.187C>T (p.Arg63Cys)	ASIC2 (R63C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531397	NM_183377.2(ASIC2):c.179C>T (p.Ser60Leu)	ASIC2 (S60L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605643	NM_183377.2(ASIC2):c.121G>T (p.Gly41Cys)	ASIC2 (G41C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616982	NM_183377.2(ASIC2):c.65T>G (p.Met22Arg)	ASIC2 (M22R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534166	NM_183377.2(ASIC2):c.26T>G (p.Leu9Arg)	ASIC2 (L9R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329099	NM_001094.5(ASIC2):c.437A>G (p.Tyr146Cys)	ASIC2, LOC105371735 (Y146C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365148	NM_001094.5(ASIC2):c.245A>C (p.Gln82Pro)	ASIC2, LOC105371735 (Q82P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 26