"Ambry Genetics"[submitter] AND "ATP8A1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2398413	NM_006095.2(ATP8A1):c.3211G>A (p.Val1071Ile)	ATP8A1 (V1071I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395922	NM_006095.2(ATP8A1):c.3181G>A (p.Ala1061Thr)	ATP8A1 (A1046T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296760	NM_006095.2(ATP8A1):c.2839A>C (p.Asn947His)	ATP8A1 (N932H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292740	NM_006095.2(ATP8A1):c.2834G>C (p.Cys945Ser)	ATP8A1 (C930S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225670	NM_006095.2(ATP8A1):c.2525A>T (p.Asn842Ile)	ATP8A1 (N663I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276869	NM_006095.2(ATP8A1):c.2503G>A (p.Ala835Thr)	ATP8A1 (A820T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461713	NM_006095.2(ATP8A1):c.2383G>A (p.Val795Ile)	ATP8A1 (V787I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2253965	NM_006095.2(ATP8A1):c.2254G>T (p.Ala752Ser)	ATP8A1 (A752S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557469	NM_006095.2(ATP8A1):c.2178C>G (p.His726Gln)	ATP8A1 (H711Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390962	NM_006095.2(ATP8A1):c.2173C>T (p.Arg725Cys)	ATP8A1 (R546C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493065	NM_006095.2(ATP8A1):c.1732A>G (p.Ile578Val)	ATP8A1 (I399V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287906	NM_006095.2(ATP8A1):c.1528G>A (p.Ala510Thr)	ATP8A1 (A495T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455667	NM_006095.2(ATP8A1):c.1508C>T (p.Ala503Val)	ATP8A1 (A324V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622196	NM_006095.2(ATP8A1):c.1492A>G (p.Lys498Glu)	ATP8A1 (K319E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249153	NM_006095.2(ATP8A1):c.1417A>G (p.Thr473Ala)	ATP8A1 (T458A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480278	NM_006095.2(ATP8A1):c.1412A>T (p.His471Leu)	ATP8A1 (H292L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279587	NM_006095.2(ATP8A1):c.1396A>T (p.Asn466Tyr)	ATP8A1 (N287Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320310	NM_006095.2(ATP8A1):c.1391T>C (p.Leu464Pro)	ATP8A1 (L285P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301062	NM_006095.2(ATP8A1):c.1013G>C (p.Ser338Thr)	ATP8A1 (S338T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523568	NM_006095.2(ATP8A1):c.786G>T (p.Trp262Cys)	ATP8A1 (W262C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458145	NM_006095.2(ATP8A1):c.716G>C (p.Gly239Ala)	ATP8A1 (G239A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277300	NM_006095.2(ATP8A1):c.694G>C (p.Val232Leu)	ATP8A1 (V232L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298245	NM_006095.2(ATP8A1):c.440A>C (p.His147Pro)	ATP8A1 (H147P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233701	NM_006095.2(ATP8A1):c.65A>T (p.Asp22Val)	ATP8A1 (D22V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 24