"Ambry Genetics"[submitter] AND "ATP8B1"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 286337	NM_001374385.1(ATP8B1):c.3739C>T (p.Arg1247Cys)	ATP8B1, ATP8B1-AS1 (R1247C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2297366	NM_001374385.1(ATP8B1):c.3733T>C (p.Tyr1245His)	ATP8B1, ATP8B1-AS1 (Y1195H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552297	NM_001374385.1(ATP8B1):c.3617G>A (p.Arg1206His)	ATP8B1-AS1, ATP8B1 (R1206H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 327468	NM_001374385.1(ATP8B1):c.3481G>A (p.Val1161Ile)	ATP8B1, ATP8B1-AS1 (V1161I +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1 +1 more	GUncertain significance
Select item 593561	NM_001374385.1(ATP8B1):c.3478G>A (p.Val1160Ile)	ATP8B1-AS1, ATP8B1 (V1160I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2624316	NM_001374385.1(ATP8B1):c.3140T>A (p.Leu1047His)	ATP8B1, ATP8B1-AS1 (L997H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 286804	NM_001374385.1(ATP8B1):c.3059T>C (p.Ile1020Thr)	ATP8B1-AS1, ATP8B1 (I1020T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2528146	NM_001374385.1(ATP8B1):c.2806C>G (p.Leu936Val)	ATP8B1, ATP8B1-AS1 (L936V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 594496	NM_001374385.1(ATP8B1):c.2722G>A (p.Val908Ile)	ATP8B1, ATP8B1-AS1 (V908I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 594677	NM_001374385.1(ATP8B1):c.2584G>A (p.Ala862Thr)	ATP8B1, ATP8B1-AS1 (A862T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 327476	NM_001374385.1(ATP8B1):c.2498G>A (p.Arg833Gln)	ATP8B1, ATP8B1-AS1 (R833Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2210131	NM_001374385.1(ATP8B1):c.2472G>T (p.Lys824Asn)	ATP8B1, ATP8B1-AS1 (K774N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349250	NM_001374385.1(ATP8B1):c.2215G>A (p.Ala739Thr)	ATP8B1, ATP8B1-AS1 (A689T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245991	NM_001374385.1(ATP8B1):c.2140G>A (p.Val714Ile)	ATP8B1-AS1, ATP8B1 (V714I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 126382	NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter)	ATP8B1 (E665* +1 more)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis +3 more	GPathogenic
Select item 2406089	NM_001374385.1(ATP8B1):c.1909C>G (p.Gln637Glu)	ATP8B1 (Q587E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 194747	NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln)	ATP8B1 (R631Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 327483	NM_001374385.1(ATP8B1):c.1888C>T (p.His630Tyr)	ATP8B1 (H630Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 286885	NM_001374385.1(ATP8B1):c.1813A>G (p.Ile605Val)	ATP8B1 (I605V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 593175	NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly)	ATP8B1 (E585G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2511068	NM_001374385.1(ATP8B1):c.1478T>C (p.Val493Ala)	ATP8B1 (V443A +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related condition +1 more	GUncertain significance
Select item 2315247	NM_001374385.1(ATP8B1):c.1206C>G (p.Ile402Met)	ATP8B1 (I352M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512324	NM_001374385.1(ATP8B1):c.1150C>G (p.Arg384Gly)	ATP8B1 (R384G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225750	NM_001374385.1(ATP8B1):c.896T>C (p.Val299Ala)	ATP8B1 (V299A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479958	NM_001374385.1(ATP8B1):c.773C>T (p.Thr258Ile)	ATP8B1 (T208I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2330256	NM_001374385.1(ATP8B1):c.739G>C (p.Asp247His)	ATP8B1 (D247H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 288710	NM_001374385.1(ATP8B1):c.530C>T (p.Thr177Met)	ATP8B1 (T177M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2240557	NM_001374385.1(ATP8B1):c.475G>A (p.Asp159Asn)	ATP8B1 (D109N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385854	NM_001374385.1(ATP8B1):c.460G>A (p.Val154Ile)	ATP8B1 (V154I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2605780	NM_001374385.1(ATP8B1):c.406A>G (p.Ile136Val)	ATP8B1 (I86V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515101	NM_001374385.1(ATP8B1):c.339T>A (p.Phe113Leu)	ATP8B1 (F63L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534938	NM_001374385.1(ATP8B1):c.211C>T (p.Arg71Cys)	ATP8B1 (R71C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525740	NM_001374385.1(ATP8B1):c.159G>T (p.Glu53Asp)	ATP8B1 (E53D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529893	NM_001374385.1(ATP8B1):c.61G>A (p.Val21Met)	ATP8B1 (V21M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 289038	NM_001374385.1(ATP8B1):c.37G>A (p.Glu13Lys)	ATP8B1 (E13K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 501907	NM_001374385.1(ATP8B1):c.8C>A (p.Thr3Lys)	ATP8B1 (T3K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2473922	NM_001374385.1(ATP8B1):c.4A>T (p.Ser2Cys)	ATP8B1 (S2C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 37