ClinVar for MedGen (Select 435857) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241137	NM_003742.4(ABCB11):c.3586C>T (p.Gln1196Ter)	ABCB11 (Q1196*)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 2	GPathogenic
Select item 3241110	NM_003742.4(ABCB11):c.263A>T (p.Asp88Val)	ABCB11 (D88V)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 3241052	NM_003742.4(ABCB11):c.3318del (p.Gln1107fs)	ABCB11 (Q1107fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 3241030	NM_003742.4(ABCB11):c.642del (p.Asp215fs)	ABCB11 (D215fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 3241019	NM_003742.4(ABCB11):c.1984C>T (p.Gln662Ter)	ABCB11 (Q662*)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 3240968	NM_003742.4(ABCB11):c.2943C>A (p.Tyr981Ter)	ABCB11 (Y981*)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 3240900	NM_003742.4(ABCB11):c.2847dup (p.Val950fs)	ABCB11, LOC126806400 (V950fs)	Duplication (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 3240763	NM_003742.4(ABCB11):c.665del (p.Gln222fs)	ABCB11 (Q222fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 3240509	NM_003742.4(ABCB11):c.99-2A>T	ABCB11	Single nucleotide variant (splice acceptor variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 3240374	NM_003742.4(ABCB11):c.149T>C (p.Leu50Ser)	ABCB11 (L50S)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 3239960	NM_003742.4(ABCB11):c.784-1G>T	ABCB11	Single nucleotide variant (splice acceptor variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 3235022	NM_003742.4(ABCB11):c.2854G>A (p.Gly952Arg)	ABCB11, LOC126806400 (G952R)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2	GUncertain significance
Select item 3068715	NM_003742.4(ABCB11):c.132_133del (p.Arg44fs)	ABCB11 (R44fs)	Microsatellite (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GPathogenic
Select item 3064017	NM_003742.4(ABCB11):c.3557A>G (p.Glu1186Gly)	ABCB11 (E1186G)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2	GUncertain significance
Select item 2681095	NM_003742.4(ABCB11):c.2150_2156del (p.His717fs)	ABCB11 (H717fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2681008	NM_003742.4(ABCB11):c.3003A>G (p.Arg1001=)	ABCB11	Single nucleotide variant (synonymous variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680951	NM_003742.4(ABCB11):c.2702G>T (p.Ser901Ile)	ABCB11, LOC126806400 (S901I)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680921	NM_003742.4(ABCB11):c.2011+1G>T	ABCB11	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2680875	NM_003742.4(ABCB11):c.1709C>T (p.Ala570Val)	ABCB11 (A570V)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680764	NM_003742.4(ABCB11):c.2913del (p.Phe971fs)	ABCB11 (F971fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680726	NM_003742.4(ABCB11):c.435T>G (p.Tyr145Ter)	ABCB11 (Y145*)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680704	NM_003742.4(ABCB11):c.3224del (p.Gln1075fs)	ABCB11 (Q1075fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680694	NM_003742.4(ABCB11):c.432dup (p.Tyr145fs)	ABCB11 (Y145fs)	Duplication (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680549	NM_003742.4(ABCB11):c.392T>A (p.Leu131Ter)	ABCB11 (L131*)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680470	NM_003742.4(ABCB11):c.884dup (p.Gly296fs)	ABCB11 (G296fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2680443	NM_003742.4(ABCB11):c.2343+1G>C	ABCB11	Single nucleotide variant (splice donor variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680384	NM_003742.4(ABCB11):c.1198-1G>C	ABCB11	Single nucleotide variant (splice acceptor variant)	Benign recurrent intrahepatic cholestasis type 2	GPathogenic
Select item 2680334	NM_003742.4(ABCB11):c.2815-2A>G	ABCB11, LOC126806400	Single nucleotide variant (splice acceptor variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680306	NM_003742.4(ABCB11):c.2281_2282del (p.Gly761fs)	ABCB11 (G761fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680273	NM_003742.4(ABCB11):c.2418C>T (p.Gly806=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2680247	NM_003742.4(ABCB11):c.489G>A (p.Trp163Ter)	ABCB11 (W163*)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680236	NM_003742.4(ABCB11):c.1687C>T (p.Gln563Ter)	ABCB11 (Q563*)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680206	NM_003742.4(ABCB11):c.98+2T>C	ABCB11	Single nucleotide variant (splice donor variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680196	NM_003742.4(ABCB11):c.567G>A (p.Trp189Ter)	ABCB11 (W189*)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 2	GPathogenic
Select item 2680134	NM_003742.4(ABCB11):c.2688del (p.Phe896fs)	ABCB11, LOC126806400 (F896fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2680109	NM_003742.4(ABCB11):c.1029dup (p.Gly344fs)	ABCB11 (G344fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679946	NM_003742.4(ABCB11):c.779G>A (p.Gly260Asp)	ABCB11 (G260D)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2	GPathogenic
Select item 2679906	NM_003742.4(ABCB11):c.2178+1G>T	ABCB11	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 2679806	NM_003742.4(ABCB11):c.2316T>G (p.Tyr772Ter)	ABCB11 (Y772*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2679749	NM_003742.4(ABCB11):c.798del (p.Phe266fs)	ABCB11 (F266fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2679702	NM_003742.4(ABCB11):c.713G>T (p.Gly238Val)	ABCB11 (G238V)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2679692	NM_003742.4(ABCB11):c.2077G>C (p.Ala693Pro)	ABCB11 (A693P)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2679668	NM_003742.4(ABCB11):c.1388C>T (p.Thr463Ile)	ABCB11 (T463I)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2679521	NM_003742.4(ABCB11):c.1081C>T (p.Gln361Ter)	ABCB11 (Q361*)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 2	GPathogenic
Select item 2678310	NM_003742.4(ABCB11):c.2542del (p.Asp848fs)	ABCB11 (D848fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2677893	NM_003742.4(ABCB11):c.2432del (p.Phe811fs)	ABCB11 (F811fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2676819	NM_003742.4(ABCB11):c.1636C>T (p.Gln546Ter)	ABCB11 (Q546*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2674877	NM_003742.4(ABCB11):c.180_181dup (p.Leu61fs)	ABCB11 (L61fs)	Duplication (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2674786	NM_003742.4(ABCB11):c.1685G>A (p.Gly562Asp)	ABCB11 (G562D)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2674704	NM_003742.4(ABCB11):c.65C>G (p.Ser22Ter)	ABCB11 (S22*)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2581352	NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)	ABCB11 (D496V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2028126	NM_003742.4(ABCB11):c.477+1G>A	ABCB11	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2003893	NM_003742.4(ABCB11):c.1198-2A>C	ABCB11	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1707592	NM_003742.4(ABCB11):c.1523T>C (p.Phe508Ser)	ABCB11 (F508S)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2	GUncertain significance
Select item 1705188	NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)	ABCB11 (R387H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1705084	NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)	ABCB11 (R696W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1526234	NM_003742.4(ABCB11):c.611+1G>A	ABCB11	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 1511470	NM_003742.4(ABCB11):c.76+1G>A	ABCB11	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1510983	NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly)	ABCB11 (E636G)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GLikely pathogenic
Select item 1456442	NM_003742.4(ABCB11):c.959_960del (p.Ile320fs)	ABCB11 (I320fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GPathogenic/Likely pathogenic
Select item 1453324	NM_003742.4(ABCB11):c.1941del (p.Gly648fs)	ABCB11 (G648fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1446335	NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr)	ABCB11 (A167T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1446326	NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)	ABCB11 (S226L)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +3 more	GConflicting classifications of pathogenicity
Select item 1446319	NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter)	ABCB11 (R415*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 2 +2 more	GPathogenic
Select item 1446289	NM_003742.4(ABCB11):c.1621A>C (p.Ile541Leu)	ABCB11 (I541L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1444576	NM_003742.4(ABCB11):c.3804del (p.Thr1269fs)	ABCB11 (T1269fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GPathogenic
Select item 1410817	NM_003742.4(ABCB11):c.3703C>T (p.Arg1235Ter)	ABCB11 (R1235*)	Single nucleotide variant (nonsense)	Progressive familial intrahepatic cholestasis type 2 +2 more	GPathogenic
Select item 1383688	NM_003742.4(ABCB11):c.1415A>G (p.Tyr472Cys)	ABCB11 (Y472C)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1342714	NM_003742.4(ABCB11):c.1361T>G (p.Val454Gly)	ABCB11 (V454G)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2	GUncertain significance
Select item 1342713	NM_003742.4(ABCB11):c.3875G>A (p.Gly1292Glu)	ABCB11 (G1292E)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2	GLikely pathogenic
Select item 1323814	NM_003742.4(ABCB11):c.1131_1132del (p.Pro378fs)	ABCB11 (P378fs)	Microsatellite (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 1195889	NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys)	ABCB11 (E21K)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1184712	NM_003742.4(ABCB11):c.3766-34A>G	ABCB11	Single nucleotide variant (intron variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GBenign
Select item 1184662	NM_003742.4(ABCB11):c.908+108A>G	ABCB11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184649	NM_003742.4(ABCB11):c.1309-93G>A	ABCB11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184648	NM_003742.4(ABCB11):c.1434+70C>T	ABCB11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184647	NM_003742.4(ABCB11):c.1638+32T>C	ABCB11	Single nucleotide variant (intron variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GBenign
Select item 1184646	NM_003742.4(ABCB11):c.2344-157T>G	ABCB11	Single nucleotide variant (intron variant)	Progressive familial intrahepatic cholestasis type 2 +2 more	GBenign
Select item 1182069	NM_003742.4(ABCB11):c.1638+80C>T	ABCB11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1076791	NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His)	ABCB11 (R1153H)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GPathogenic/Likely pathogenic
Select item 1076790	NM_003742.4(ABCB11):c.3491del (p.Val1164fs)	ABCB11 (V1164fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GPathogenic
Select item 1075698	NM_003742.4(ABCB11):c.3772C>T (p.Gln1258Ter)	ABCB11 (Q1258*)	Single nucleotide variant (nonsense)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GPathogenic/Likely pathogenic
Select item 1070782	NM_003742.4(ABCB11):c.1429G>T (p.Gly477Ter)	ABCB11 (G477*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1070201	NM_003742.4(ABCB11):c.2319dup (p.Phe774fs)	ABCB11 (F774fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1028652	NM_003742.4(ABCB11):c.2488del (p.Arg830fs)	ABCB11 (R830fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2	GPathogenic
Select item 991234	NM_003742.4(ABCB11):c.1271A>C (p.Asn424Thr)	ABCB11 (N424T)	Single nucleotide variant (missense variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GUncertain significance
Select item 973516	NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)	ABCB11 (R1231W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 956883	NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln)	ABCB11 (R470Q)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +2 more	GPathogenic
Select item 951369	NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)	ABCB11 (I498T)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 950910	NM_003742.4(ABCB11):c.2316T>A (p.Tyr772Ter)	ABCB11 (Y772*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 943967	NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro)	ABCB11 (T1210P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 893080	NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp)	ABCB11 (N490D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 812747	NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp)	ABCB11 (E1223D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 639640	NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys)	ABCB11 (R1128C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 598701	NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)	ABCB11 (R517H)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis +2 more	GPathogenic/Likely pathogenic
Select item 598094	NM_003742.4(ABCB11):c.451G>A (p.Ala151Thr)	ABCB11 (A151T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 598092	NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys)	ABCB11, LOC126806400 (R948C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 597949	NM_003742.4(ABCB11):c.3676C>T (p.Arg1226Cys)	ABCB11 (R1226C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 596905	NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln)	ABCB11 (E592Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 596620	NM_003742.4(ABCB11):c.2178+1G>A	ABCB11	Single nucleotide variant (splice donor variant)	Benign recurrent intrahepatic cholestasis type 2 +2 more	GPathogenic

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