"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATP8B1"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259814	NM_001374385.1(ATP8B1):c.*11C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 259825	NM_001374385.1(ATP8B1):c.3744C>A (p.Thr1248=)	ATP8B1-AS1, ATP8B1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 286355	NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser)	ATP8B1, ATP8B1-AS1 (T1242S +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2833443	NM_001374385.1(ATP8B1):c.3717G>A (p.Ala1239=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 259824	NM_001374385.1(ATP8B1):c.3699G>A (p.Pro1233=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 327466	NM_001374385.1(ATP8B1):c.3696G>A (p.Ser1232=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2414544	NM_001374385.1(ATP8B1):c.3682C>G (p.Arg1228Gly)	ATP8B1, ATP8B1-AS1 (R1178G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3030182	NM_001374385.1(ATP8B1):c.3680T>G (p.Ile1227Ser)	ATP8B1, ATP8B1-AS1 (I1177S +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 327467	NM_001374385.1(ATP8B1):c.3654G>A (p.Ala1218=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3049779	NM_001374385.1(ATP8B1):c.3588G>A (p.Gln1196=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder	GLikely benign
Select item 3013602	NM_001374385.1(ATP8B1):c.3561G>A (p.Ala1187=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 259823	NM_001374385.1(ATP8B1):c.3532-15C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 259822	NM_001374385.1(ATP8B1):c.3531+8G>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 3046537	NM_001374385.1(ATP8B1):c.3531+5A>G	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 259821	NM_001374385.1(ATP8B1):c.3477C>T (p.Pro1159=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2972138	NM_001374385.1(ATP8B1):c.3472C>T (p.Leu1158=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 891131	NM_001374385.1(ATP8B1):c.3318C>T (p.Ser1106=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3047895	NM_001374385.1(ATP8B1):c.3261+4C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 2898424	NM_001374385.1(ATP8B1):c.3219C>T (p.Ala1073=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3061247	NM_001374385.1(ATP8B1):c.3178G>C (p.Gly1060Arg)	ATP8B1, ATP8B1-AS1 (G1010R +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 3032514	NM_001374385.1(ATP8B1):c.3152C>G (p.Pro1051Arg)	ATP8B1, ATP8B1-AS1 (P1001R +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 1981824	NM_001374385.1(ATP8B1):c.3132G>A (p.Ser1044=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +1 more	GLikely benign
Select item 2722655	NM_001374385.1(ATP8B1):c.3108C>T (p.Ser1036=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 286804	NM_001374385.1(ATP8B1):c.3059T>C (p.Ile1020Thr)	ATP8B1, ATP8B1-AS1 (I1020T +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder +3 more	GUncertain significance
Select item 3036341	NM_001374385.1(ATP8B1):c.3015+4G>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 2979577	NM_001374385.1(ATP8B1):c.3003G>C (p.Gly1001=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2997049	NM_001374385.1(ATP8B1):c.2967C>T (p.Asn989=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +1 more	GLikely benign
Select item 3018712	NM_001374385.1(ATP8B1):c.2961C>G (p.Leu987=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2974509	NM_001374385.1(ATP8B1):c.2940C>T (p.Tyr980=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 498613	NM_001374385.1(ATP8B1):c.2928G>A (p.Ala976=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 682118	NM_001374385.1(ATP8B1):c.2916T>C (p.Asn972=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +1 more	GLikely benign
Select item 259820	NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln)	ATP8B1, ATP8B1-AS1 (R952Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1698723	NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter)	ATP8B1, ATP8B1-AS1 (R891* +1 more)	Single nucleotide variant (nonsense)	ATP8B1-related disorder +3 more	GPathogenic
Select item 385799	NM_001374385.1(ATP8B1):c.2796G>A (p.Leu932=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 259819	NM_001374385.1(ATP8B1):c.2789G>A (p.Arg930Gln)	ATP8B1-AS1, ATP8B1 (R930Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2736744	NM_001374385.1(ATP8B1):c.2788C>T (p.Arg930Ter)	ATP8B1, ATP8B1-AS1 (R880* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2631724	NM_001374385.1(ATP8B1):c.2716A>G (p.Ile906Val)	ATP8B1, ATP8B1-AS1 (I856V +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 2961700	NM_001374385.1(ATP8B1):c.2708-4A>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3061363	NM_001374385.1(ATP8B1):c.2649C>G (p.Tyr883Ter)	ATP8B1, ATP8B1-AS1 (Y833* +1 more)	Single nucleotide variant (nonsense)	ATP8B1-related disorder	GLikely pathogenic
Select item 327475	NM_001374385.1(ATP8B1):c.2637G>A (p.Leu879=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2636850	NM_001374385.1(ATP8B1):c.2602G>A (p.Val868Ile)	ATP8B1, ATP8B1-AS1 (V818I +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 392974	NM_001374385.1(ATP8B1):c.2595C>T (p.Cys865=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3059589	NM_001374385.1(ATP8B1):c.2577G>A (p.Glu859=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder	GLikely benign
Select item 2992070	NM_001374385.1(ATP8B1):c.2574C>T (p.Cys858=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +1 more	GLikely benign
Select item 593984	NM_001374385.1(ATP8B1):c.2418+4C>T	ATP8B1, ATP8B1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3034331	NM_001374385.1(ATP8B1):c.2398A>G (p.Ile800Val)	ATP8B1, ATP8B1-AS1 (I750V +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 597489	NM_001374385.1(ATP8B1):c.2380G>A (p.Gly794Ser)	ATP8B1, ATP8B1-AS1 (G794S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 195604	NM_001374385.1(ATP8B1):c.2358G>A (p.Val786=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 510973	NM_001374385.1(ATP8B1):c.2337C>T (p.Tyr779=)	ATP8B1-AS1, ATP8B1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 510061	NM_001374385.1(ATP8B1):c.2209+9T>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP8B1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3058589	NM_001374385.1(ATP8B1):c.2103G>A (p.Leu701=)	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP8B1-related disorder	GLikely benign
Select item 3035589	NM_001374385.1(ATP8B1):c.2098-4C>A	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP8B1-related disorder	GLikely benign
Select item 3029942	NM_001374385.1(ATP8B1):c.2098-7A>C	ATP8B1, ATP8B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP8B1-related disorder	GLikely benign
Select item 2636359	NM_001374385.1(ATP8B1):c.2065A>G (p.Lys689Glu)	ATP8B1 (K639E +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 2632125	NM_001374385.1(ATP8B1):c.2048G>A (p.Arg683Gln)	ATP8B1 (R633Q +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 259817	NM_001374385.1(ATP8B1):c.2021T>C (p.Met674Thr)	ATP8B1 (M674T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 7267	NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)	ATP8B1 (I661T +1 more)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 1 +4 more	GPathogenic/Likely pathogenic
Select item 1705135	NM_001374385.1(ATP8B1):c.1928T>C (p.Leu643Pro)	ATP8B1 (L593P +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder +1 more	GUncertain significance
Select item 3029209	NM_001374385.1(ATP8B1):c.1927C>T (p.Leu643=)	ATP8B1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder	GLikely benign
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 3045286	NM_001374385.1(ATP8B1):c.1820-5A>G	ATP8B1	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 890631	NM_001374385.1(ATP8B1):c.1819+10C>T	ATP8B1	Single nucleotide variant (intron variant)	ATP8B1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1964099	NM_001374385.1(ATP8B1):c.1819+6T>C	ATP8B1	Single nucleotide variant (intron variant)	ATP8B1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 502324	NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln)	ATP8B1 (R600Q +1 more)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 1 +3 more	GPathogenic/Likely pathogenic
Select item 259816	NM_001374385.1(ATP8B1):c.1729A>G (p.Ile577Val)	ATP8B1 (I577V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3049089	NM_001374385.1(ATP8B1):c.1719C>T (p.Thr573=)	ATP8B1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder	GLikely benign
Select item 327485	NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr)	ATP8B1 (A571T +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2719034	NM_001374385.1(ATP8B1):c.1710C>T (p.Leu570=)	ATP8B1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +1 more	GLikely benign
Select item 7269	NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn)	ATP8B1 (D554N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 291027	NM_001374385.1(ATP8B1):c.1659C>T (p.Pro553=)	ATP8B1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 282576	NM_001374385.1(ATP8B1):c.1498T>C (p.Tyr500His)	ATP8B1 (Y500H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2511068	NM_001374385.1(ATP8B1):c.1478T>C (p.Val493Ala)	ATP8B1 (V443A +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder +1 more	GUncertain significance
Select item 2992540	NM_001374385.1(ATP8B1):c.1368G>A (p.Thr456=)	ATP8B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1028919	NM_001374385.1(ATP8B1):c.1325A>G (p.Asn442Ser)	ATP8B1 (N442S +1 more)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 1 +1 more	GUncertain significance
Select item 2900926	NM_001374385.1(ATP8B1):c.1299C>T (p.Pro433=)	ATP8B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2787673	NM_001374385.1(ATP8B1):c.1299C>G (p.Pro433=)	ATP8B1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +1 more	GLikely benign
Select item 381740	NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)	ATP8B1 (E429A +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 259815	NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)	ATP8B1 (I393V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2506319	NM_001374385.1(ATP8B1):c.1151G>A (p.Arg384His)	ATP8B1 (R334H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3030980	NM_001374385.1(ATP8B1):c.1127G>A (p.Gly376Glu)	ATP8B1 (G326E +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder	GUncertain significance
Select item 327489	NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser)	ATP8B1 (G358S +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3036782	NM_001374385.1(ATP8B1):c.1029+6T>G	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 3036017	NM_001374385.1(ATP8B1):c.1029+5T>G	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 327490	NM_001374385.1(ATP8B1):c.1029+5T>C	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	ATP8B1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3036363	NM_001374385.1(ATP8B1):c.1029+4T>G	ATP8B1, LOC126862761	Single nucleotide variant (intron variant)	ATP8B1-related disorder	GLikely benign
Select item 386015	NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=)	ATP8B1, LOC126862761	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 7262	NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val)	ATP8B1 (G308V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 289557	NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)	ATP8B1 (F305I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 259828	NM_001374385.1(ATP8B1):c.811A>C (p.Arg271=)	ATP8B1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 510739	NM_001374385.1(ATP8B1):c.771T>C (p.Ala257=)	ATP8B1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +2 more	GLikely benign
Select item 2747249	NM_001374385.1(ATP8B1):c.766T>C (p.Leu256=)	ATP8B1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +1 more	GLikely benign
Select item 259827	NM_001374385.1(ATP8B1):c.698+20C>T	ATP8B1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 3054654	NM_001374385.1(ATP8B1):c.698+3_698+6del	ATP8B1	Deletion (splice donor variant)	ATP8B1-related disorder	GUncertain significance
Select item 259826	NM_001374385.1(ATP8B1):c.696T>C (p.Asp232=)	ATP8B1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 198532	NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)	ATP8B1 (K203E +1 more)	Single nucleotide variant (missense variant)	ATP8B1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 283584	NM_001374385.1(ATP8B1):c.549T>C (p.Asp183=)	ATP8B1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2967631	NM_001374385.1(ATP8B1):c.459C>T (p.Gly153=)	ATP8B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2842226	NM_001374385.1(ATP8B1):c.426C>T (p.Tyr142=)	ATP8B1	Single nucleotide variant (synonymous variant)	ATP8B1-related disorder +1 more	GLikely benign
Select item 3005806	NM_001374385.1(ATP8B1):c.381T>C (p.Leu127=)	ATP8B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 742577	NM_001374385.1(ATP8B1):c.334C>T (p.Leu112=)	ATP8B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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