Variants of ABCB11 located in coding regions

! These entries do not include the mined mutations.

Variation	Location	Effect	Review status	URL
p.Met1Val	exon 2	D		REVIEW2
p.Gly19Arg	exon 2	D		REVIEW2
p.Ser25*	exon 2	D		REVIEW2
p.Val43Ile	exon 4	?	Uncertain significance	ClinVar
p.Val43Ile	exon 4	N		REVIEW2
p.Leu50Ser	exon 4	D		REVIEW1+2
p.Ser56Leu	exon 5	N		REVIEW2
p.Met62Lys	exon 5	D		REVIEW2
p.Cys68Tyr	exon 5	D		REVIEW2
p.Thr87Arg	exon 5	!		REVIEW2
p.Phe90Phe	exon 5	N		REVIEW1
p.Glu96*	exon 5	D		REVIEW2
p.Cys107Arg	exon 5	D		REVIEW2
p.Ile112Thr	exon 5	D		REVIEW2
p.Trp114Arg	exon 5	D		REVIEW2
p.Gln121Lys	exon 5	N		REVIEW2
p.Met123Thr	exon 5	!		REVIEW2
p.Arg128His	exon 5	N		REVIEW2
p.Glu135Lys	exon 6	D		REVIEW1+2
p.Glu137Lys	exon 6	D		REVIEW1+2
p.Tyr157Cys	exon 6	D		REVIEW2
p.Ala167Thr	exon 7	D		REVIEW2
p.Ala167Val	exon 7	D		REVIEW1+2
p.Ile182Lys	exon 7	D		REVIEW2
p.Met183Thr	exon 7	D		REVIEW2
p.Met183Val	exon 7	D		REVIEW2
p.Glu186Gly	exon 7	D		REVIEW1+2
p.Gly188Trp	exon 7	D		REVIEW2
p.Ser194Pro	exon 7	!		REVIEW1+2
p.Leu198Pro	exon 7	D		REVIEW1+2
p.Ile206Val	exon 8	N		REVIEW2
p.Met217Arg	exon 8	D		REVIEW2
p.Arg223Cys	exon 8	D		REVIEW2
p.Ser226Leu	exon 8	D		REVIEW2
p.Gly238Val	exon 8	D		REVIEW1+2
p.Thr242Ile	exon 8	D		REVIEW1+2
p.Ala257Gly	exon 8	D		REVIEW2
p.Gly260Asp	exon 8	!		REVIEW1+2
p.Val284Ala	exon 9	N		REVIEW1+2
p.Val284Leu	exon 9	D		REVIEW1+2
p.Gly295Arg	exon 9	N		REVIEW2
p.Gly295Cys	exon 9	N		REVIEW2
p.Gly295Ser	exon 9	N		REVIEW2
p.Glu297Gly	exon 9	D		REVIEW1+2
p.Glu297Lys	exon 9	!		REVIEW1+2
p.Glu297Gly	exon 9	D	Pathogenic	ClinVar
p.Arg299Lys	exon 9	N		REVIEW2
p.Arg303Gly	exon 9	D		REVIEW2
p.Arg303Lys	exon 9	D		REVIEW2
p.Gln312His	exon 10	D		REVIEW1+2
p.Arg313Ser	exon 10	D		REVIEW1+2
p.Gly319Gly	exon 10	N		REVIEW1
p.Gly319=	exon 10	N	Benign	ClinVar
p.Gly327Glu	exon 10	D		REVIEW1+2
p.Trp330*	exon 10	D		REVIEW2
p.Trp330Arg	exon 10	D		REVIEW2
p.Cys336Ser	exon 10	D		REVIEW1+2
p.Leu339Val	exon 10	N		REVIEW2
p.Trp342Gly	exon 10	D		REVIEW2
p.Tyr354*	exon 10	D		REVIEW2
p.Gly374Ser	exon 11	D		REVIEW2
p.Ala382Gly	exon 11	D		REVIEW2
p.Arg387His	exon 11	D		REVIEW2
p.Ala390Pro	exon 11	D		REVIEW1+2
p.Gly410Asp	exon 12	D		REVIEW1+2
p.Leu413Trp	exon 12	D		REVIEW1+2
p.Arg415*	exon 12	D		REVIEW2
p.Arg415Gln	exon 12	D		REVIEW1+2
p.Ile420Thr	exon 12	D		REVIEW2
p.His423Arg	exon 12	N		REVIEW2
p.Arg432Thr	exon 12	D		REVIEW1+2
p.Arg432Thr	exon 12	D	Pathogenic	ClinVar
p.Asp440Glu	exon 13	D		REVIEW2
p.Ala444Val	exon 13	D		REVIEW1
p.Val444Ala	exon 13	D		REVIEW2
p.Val444Asp	exon 13	N		REVIEW2
p.Val444Gly	exon 13	N		REVIEW2
p.Val444Ala	exon 13	N	Benign	ClinVar
p.Gly455Glu	exon 13	D		REVIEW2
p.Ala459Val	exon 13	N		REVIEW2
p.Lys461Glu	exon 13	D		REVIEW1+2
p.Thr463Ile	exon 13	D		REVIEW1+2
p.Gln466Lys	exon 13	D		REVIEW1+2
p.Ile468Ile	exon 13	N		REVIEW2
p.Arg470*	exon 13	D		REVIEW2
p.Arg470Gln	exon 13	D		REVIEW1+2
p.Tyr472*	exon 13	D		REVIEW2
p.Tyr472Cys	exon 13	D		REVIEW2
p.Val481Glu	exon 14	D		REVIEW1+2
p.Asp482Gly	exon 14	D		REVIEW1+2
p.Arg487His	exon 14	D		REVIEW2
p.Arg487Leu	exon 14	N		REVIEW2
p.Arg487Pro	exon 14	D		REVIEW2
p.Asn490Asp	exon 14	D		REVIEW1+2
p.Trp493*	exon 14	D		REVIEW2
p.Ile498Thr	exon 14	D		REVIEW1+2
p.Gly499Glu	exon 14	D		REVIEW2
p.Thr510Thr	exon 14	!		REVIEW1+2
p.Ile512Thr	exon 14	D		REVIEW1+2
p.Asn515Thr	exon 14	D		REVIEW1+2
p.Arg517His	exon 14	D		REVIEW1+2
p.Arg520*	exon 14	D		REVIEW2
p.Ile528*	exon 14	D		REVIEW2
p.Ala535Ala	exon 14	N		REVIEW1
p.Ala535=	exon 14	N	Benign	ClinVar
p.Phe540Leu	exon 14	D		REVIEW2
p.Ile541Leu	exon 14	D		REVIEW1+2
p.Ile541Thr	exon 14	D		REVIEW2
p.Gln546Lys	exon 14	N		REVIEW2
p.Phe548Tyr	exon 15	D		REVIEW1+2
p.Asp549Val	exon 15	D		REVIEW2
p.Gly556Arg	exon 15	D		REVIEW2
p.Gln558His	exon 15	N		REVIEW2
p.Gly562Asp	exon 15	D		REVIEW1+2
p.Ala570Thr	exon 15	D		REVIEW1+2
p.Arg575*	exon 15	D	Pathogenic	ClinVar
p.Arg575*	exon 15	D		REVIEW2
p.Leu581Phe	exon 15	D		REVIEW2
p.Thr586Ile	exon 15	D		REVIEW1+2
p.Ala588Val	exon 15	D		REVIEW1+2
p.Asn591Ser	exon 15	D		REVIEW1+2
p.Asn591Ser	exon 15	N	Benign	ClinVar
p.Glu592Gln	exon 15	N		REVIEW2
p.Ser593Arg	exon 15	D		REVIEW1+2
p.Val597Met	exon 15	N		REVIEW2
p.Val597Val	exon 15	N		REVIEW1
p.Val597=	exon 15	N	Benign	ClinVar
p.Arg616Gly	exon 16	N		REVIEW2
p.Thr619Ala	exon 16	N		REVIEW2
p.Ile627Thr	exon 16	D		REVIEW1+2
p.Ala634Thr	exon 16	?	Uncertain significance	ClinVar
p.Glu636Gly	exon 16	D		REVIEW2
p.Gly648Val	exon 16	D		REVIEW2
p.Thr655Ile	exon 16	D		REVIEW1+2
p.Asp676Tyr	exon 17	!		REVIEW2
p.Met677Leu	exon 17	N		REVIEW2
p.Met677Val	exon 17	N		REVIEW1+2
p.Arg696Gln	exon 18	N		REVIEW2
p.Arg698Cys	exon 18	D		REVIEW2
p.Arg698His	exon 18	N		REVIEW1+2
p.Arg698His	exon 18	N	Benign	ClinVar
p.Ser699Pro	exon 18	D		REVIEW2
p.Ser701Pro	exon 18	N		REVIEW2
p.Gln702*	exon 18	D		REVIEW2
p.Glu709Lys	exon 18	D		REVIEW1+2
p.Pro710Pro	exon 18	!		REVIEW1+2
p.Leu712Leu	exon 18	N		REVIEW2
p.Gly758Arg	exon 19	D		REVIEW2
p.Gly766Arg	exon 19	D		REVIEW2
p.Tyr772*	exon 19	D		REVIEW2
p.Gln791*	exon 20	D		REVIEW2
p.Ala804Ala	exon 20	N		REVIEW1
p.Tyr818Phe	exon 21	D		REVIEW1+2
p.Leu827Ile	exon 21	!		REVIEW2
p.Arg832Cys	exon 21	D		REVIEW1+2
p.Arg832His	exon 21	D		REVIEW2
p.Gly855Arg	exon 21	!		REVIEW2
p.Thr859Arg	exon 21	D		REVIEW1+2
p.Ala865Asp	exon 21	N		REVIEW2
p.Ala865Gly	exon 21	N		REVIEW2
p.Ala865Val	exon 21	D		REVIEW2
p.Gln869Pro	exon 21	D		REVIEW2
p.Ser874Pro	exon 22	N		REVIEW2
p.Gly877Arg	exon 22	D		REVIEW2
p.Ser901Arg	exon 22	D		REVIEW2
p.Thr923Pro	exon 22	D		REVIEW1+2
p.Ala926Pro	exon 22	D		REVIEW1+2
p.Arg928*	exon 22	D		REVIEW2
p.Ile939Met	exon 23	N		REVIEW2
p.Arg948Cys	exon 23	D		REVIEW1+2
p.Arg958Gln	exon 23	N		REVIEW2
p.Phe959Cys	exon 23	N		REVIEW2
p.Phe959Val	exon 23	N		REVIEW2
p.Thr965Ser	exon 23	N		REVIEW2
p.Phe971Leu	exon 23	N		REVIEW2
p.Phe971Tyr	exon 23	N		REVIEW2
p.Asn979Asp	exon 23	D		REVIEW1+2
p.Tyr981=	exon 23	N	Benign	ClinVar
p.Gly982Arg	exon 23	D		REVIEW1+2
p.Gly1004Asp	exon 23	D		REVIEW1+2
p.Leu1006Phe	exon 23	N		REVIEW2
p.Asn1009His	exon 23	N		REVIEW2
p.Ala1028Ala	exon 24	!		REVIEW1
p.Thr1029Lys	exon 24	D		REVIEW2
p.Gly1032Arg	exon 24	D		REVIEW2
p.Tyr1041*	exon 24	D		REVIEW2
p.Ala1044Pro	exon 24	D		REVIEW2
p.Arg1050Cys	exon 24	D		REVIEW1+2
p.Leu1055Pro	exon 24	D		REVIEW2
p.Arg1057*	exon 24	D	Pathogenic	ClinVar
p.Arg1057*	exon 24	D		REVIEW2
p.Gln1058*	exon 24	D		REVIEW2
p.Cys1083Tyr	exon 25	D		REVIEW2
p.Arg1090*	exon 25	D		REVIEW2
p.Ala1110Glu	exon 25	D		REVIEW1+2
p.Ser1114Arg	exon 25	D		REVIEW2
p.Gly1116Arg	exon 25	D		REVIEW1+2
p.Gly1116Glu	exon 25	D		REVIEW2
p.Gly1116Phe	exon 25	D		REVIEW2
p.Ser1120Asn	exon 25	D		REVIEW2
p.Arg1128Cys	exon 25	D		REVIEW1+2
p.Arg1128His	exon 25	D		REVIEW1+2
p.Ser1144Arg	exon 26	D		REVIEW1+2
p.Lys1145Asn	exon 26	N		REVIEW2
p.Val1147*	exon 26	D		REVIEW2
p.Arg1153Cys	exon 26	D		REVIEW1+2
p.Arg1153His	exon 26	D		REVIEW1+2
p.Ser1154Pro	exon 26	D		REVIEW1+2
p.Asn1173Asp	exon 26	D		REVIEW2
p.Ile1183Thr	exon 26	N		REVIEW2
p.Glu1186Lys	exon 26	?	not provided	ClinVar
p.Glu1186Lys	exon 26	!		REVIEW1+2
p.Leu1197Gly	exon 26	D		REVIEW1+2
p.Thr1210Pro	exon 27	D		REVIEW1+2
p.Asn1211Asp	exon 27	D		REVIEW1+2
p.Val1212Phe	exon 27	D		REVIEW2
p.Gln1215*	exon 27	D		REVIEW2
p.Glu1223Asp	exon 27	?		REVIEW1
p.Ala1228Val	exon 27	!		REVIEW1
p.Arg1231Gln	exon 27	D		REVIEW1+2
p.Arg1231Trp	exon 27	D		REVIEW1+2
p.Arg1235*	exon 27	D		REVIEW2
p.Leu1242Ile	exon 27	D		REVIEW1+2
p.Asp1243Gly	exon 27	D		REVIEW2
p.Arg1268Gln	exon 28	D		REVIEW1+2
p.Ala1283Val	exon 28	D		REVIEW2
p.Gly1292Val	exon 28	D		REVIEW2
p.Gly1298Arg	exon 28	D		REVIEW2
p.Glu1302*	exon 28	D		REVIEW2

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