"Ambry Genetics"[submitter] AND "ATP8B2"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2386986	NM_001370597.1(ATP8B2):c.26C>T (p.Pro9Leu)	ATP8B2 (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387377	NM_001370597.1(ATP8B2):c.98G>A (p.Cys33Tyr)	ATP8B2, LOC126805873 (C33Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310967	NM_001370597.1(ATP8B2):c.145C>T (p.Leu49Phe)	ATP8B2, LOC126805873 (L49F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310720	NM_001370597.1(ATP8B2):c.244A>G (p.Ile82Val)	ATP8B2, LOC126805873 (I101V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131986	NM_001370597.1(ATP8B2):c.301T>C (p.Tyr101His)	ATP8B2, LOC126805873 (Y101H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610954	NM_001370597.1(ATP8B2):c.463A>G (p.Ser155Gly)	ATP8B2 (S174G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131987	NM_001370597.1(ATP8B2):c.529C>T (p.Arg177Cys)	ATP8B2 (R177C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131988	NM_001370597.1(ATP8B2):c.530G>A (p.Arg177His)	ATP8B2 (R177H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611306	NM_001370597.1(ATP8B2):c.694C>T (p.Arg232Trp)	ATP8B2 (R251W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548748	NM_001370597.1(ATP8B2):c.700T>C (p.Cys234Arg)	ATP8B2 (C234R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131978	NM_001370597.1(ATP8B2):c.913C>T (p.Arg305Cys)	ATP8B2 (R324C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355773	NM_001370597.1(ATP8B2):c.932C>T (p.Pro311Leu)	ATP8B2 (P311L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372670	NM_001370597.1(ATP8B2):c.1024C>T (p.Leu342Phe)	ATP8B2 (L361F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337311	NM_001370597.1(ATP8B2):c.1092C>A (p.Phe364Leu)	ATP8B2 (F383L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622681	NM_001370597.1(ATP8B2):c.1133C>T (p.Thr378Ile)	ATP8B2 (T397I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248490	NM_001370597.1(ATP8B2):c.1161G>C (p.Glu387Asp)	ATP8B2 (E387D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523659	NM_001370597.1(ATP8B2):c.1366G>A (p.Ala456Thr)	ATP8B2 (A456T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220030	NM_001370597.1(ATP8B2):c.1450G>A (p.Glu484Lys)	ATP8B2 (E484K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216153	NM_001370597.1(ATP8B2):c.1634C>G (p.Ser545Trp)	ATP8B2 (S545W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615496	NM_001370597.1(ATP8B2):c.2111A>G (p.His704Arg)	ATP8B2 (H705R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297613	NM_001370597.1(ATP8B2):c.2147C>T (p.Ala716Val)	ATP8B2 (A735V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534209	NM_001370597.1(ATP8B2):c.2149C>T (p.Arg717Trp)	ATP8B2 (R736W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131980	NM_001370597.1(ATP8B2):c.2150G>A (p.Arg717Gln)	ATP8B2 (R718Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409552	NM_001370597.1(ATP8B2):c.2162T>C (p.Met721Thr)	ATP8B2 (M721T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131981	NM_001370597.1(ATP8B2):c.2621A>G (p.Tyr874Cys)	ATP8B2 (Y893C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459005	NM_001370597.1(ATP8B2):c.2833C>A (p.Leu945Met)	ATP8B2 (L945M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530928	NM_001370597.1(ATP8B2):c.2849A>G (p.Asn950Ser)	ATP8B2 (N969S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219364	NM_001370597.1(ATP8B2):c.2875G>A (p.Ala959Thr)	ATP8B2 (A960T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481683	NM_001370597.1(ATP8B2):c.2896G>T (p.Val966Leu)	ATP8B2 (V966L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458509	NM_001370597.1(ATP8B2):c.2962G>A (p.Ala988Thr)	ATP8B2 (A988T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131982	NM_001370597.1(ATP8B2):c.2986A>T (p.Thr996Ser)	ATP8B2 (T1015S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222897	NM_001370597.1(ATP8B2):c.3133G>A (p.Asp1045Asn)	ATP8B2 (D1045N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131983	NM_001370597.1(ATP8B2):c.3191C>T (p.Pro1064Leu)	ATP8B2 (P1065L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351776	NM_001370597.1(ATP8B2):c.3214C>T (p.Leu1072Phe)	ATP8B2 (L1073F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204009	NM_001370597.1(ATP8B2):c.3289G>A (p.Asp1097Asn)	ATP8B2 (D1097N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131984	NM_001370597.1(ATP8B2):c.3425T>C (p.Met1142Thr)	ATP8B2 (M1142T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243314	NM_001370597.1(ATP8B2):c.3457G>T (p.Ala1153Ser)	ATP8B2 (A1153S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131985	NM_001370597.1(ATP8B2):c.3509G>T (p.Arg1170Leu)	ATP8B2 (R1189L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 38