8647[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 150637	GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1	ABCB11, BBS5 +33 more	Copy number loss	See cases	GUncertain significance
Select item 894429	NM_003742.4(ABCB11):c.*670G>C	ABCB11	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 892997	NM_003742.4(ABCB11):c.*640G>C	ABCB11	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 332010	NM_003742.4(ABCB11):c.*533C>A	ABCB11	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 332011	NM_003742.4(ABCB11):c.*509C>T	ABCB11	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 332012	NM_003742.4(ABCB11):c.*440G>A	ABCB11	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 2	GLikely benign
Select item 332013	NM_003742.4(ABCB11):c.*420A>G	ABCB11	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 892998	NM_003742.4(ABCB11):c.*406A>G	ABCB11	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 332014	NM_003742.4(ABCB11):c.*368G>A	ABCB11	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 2 +1 more	GBenign
Select item 893221	NM_003742.4(ABCB11):c.*316G>A	ABCB11	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 332015	NM_003742.4(ABCB11):c.*281T>G	ABCB11	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 332016	NM_003742.4(ABCB11):c.*252T>A	ABCB11	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 332017	NM_003742.4(ABCB11):c.*237T>C	ABCB11	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 2	GLikely benign
Select item 332018	NM_003742.4(ABCB11):c.*236A>G	ABCB11	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 332019	NM_003742.4(ABCB11):c.*193G>C	ABCB11	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis	GUncertain significance
Select item 893222	NM_003742.4(ABCB11):c.*26A>G	ABCB11	Single nucleotide variant (3 prime UTR variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 382797	NM_003742.4(ABCB11):c.*6T>A	ABCB11	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2107749	NM_003742.4(ABCB11):c.3962G>C (p.Ser1321Thr)	ABCB11 (S1321T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1131495	NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn)	ABCB11 (S1321N)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1133199	NM_003742.4(ABCB11):c.3957C>G (p.Pro1319=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986271	NM_003742.4(ABCB11):c.3954C>T (p.Ser1318=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059572	NM_003742.4(ABCB11):c.3951A>T (p.Gly1317=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3380849	NM_003742.4(ABCB11):c.3947C>T (p.Thr1316Ile)	ABCB11 (T1316I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 990583	NM_003742.4(ABCB11):c.3946A>G (p.Thr1316Ala)	ABCB11 (T1316A)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 286336	NM_003742.4(ABCB11):c.3945del (p.Thr1316fs)	ABCB11 (T1316fs)	Deletion (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GConflicting classifications of pathogenicity
Select item 3290503	NM_003742.4(ABCB11):c.3944C>T (p.Thr1315Ile)	ABCB11 (T1315I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1136138	NM_003742.4(ABCB11):c.3937C>T (p.Leu1313=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1100241	NM_003742.4(ABCB11):c.3927C>A (p.Ala1309=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 594682	NM_003742.4(ABCB11):c.3923del (p.Gly1308fs)	ABCB11 (G1308fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1654737	NM_003742.4(ABCB11):c.3921A>G (p.Lys1307=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113683	NM_003742.4(ABCB11):c.3917A>G (p.Gln1306Arg)	ABCB11 (Q1306R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2716205	NM_003742.4(ABCB11):c.3915C>G (p.Ala1305=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1146138	NM_003742.4(ABCB11):c.3915C>A (p.Ala1305=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2682753	NM_003742.4(ABCB11):c.3914C>A (p.Ala1305Asp)	ABCB11 (A1305D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1150150	NM_003742.4(ABCB11):c.3906A>G (p.Glu1302=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1453316	NM_003742.4(ABCB11):c.3904G>T (p.Glu1302Ter)	ABCB11 (E1302*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 754308	NM_003742.4(ABCB11):c.3903A>G (p.Glu1301=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799907	NM_003742.4(ABCB11):c.3894G>A (p.Gly1298=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117852	NM_003742.4(ABCB11):c.3890dup (p.Thr1299fs)	ABCB11 (T1299fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2840158	NM_003742.4(ABCB11):c.3888A>G (p.Glu1296=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757594	NM_003742.4(ABCB11):c.3880del (p.Val1293_Val1294insTer)	ABCB11	Deletion (nonsense)	not provided	GPathogenic
Select item 3016616	NM_003742.4(ABCB11):c.3876G>A (p.Gly1292=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 498152	NM_003742.4(ABCB11):c.3875G>T (p.Gly1292Val)	ABCB11 (G1292V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895526	NM_003742.4(ABCB11):c.3873G>A (p.Gln1291=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1666533	NM_003742.4(ABCB11):c.3864C>T (p.Val1288=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698967	NM_003742.4(ABCB11):c.3858T>C (p.Ile1286=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593336	NM_003742.4(ABCB11):c.3854T>A (p.Ile1285Asn)	ABCB11 (I1285N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251684	NM_003742.4(ABCB11):c.3850G>A (p.Asp1284Asn)	ABCB11 (D1284N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 763177	NM_003742.4(ABCB11):c.3849G>A (p.Ala1283=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 288349	NM_003742.4(ABCB11):c.3848C>T (p.Ala1283Val)	ABCB11 (A1283V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 722574	NM_003742.4(ABCB11):c.3846C>T (p.Asn1282=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079544	NM_003742.4(ABCB11):c.3840C>T (p.Ile1280=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649409	NM_003742.4(ABCB11):c.3834C>T (p.Ser1278=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 434034	NM_003742.4(ABCB11):c.3834C>G (p.Ser1278=)	ABCB11	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1133476	NM_003742.4(ABCB11):c.3828C>T (p.Arg1276=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 498705	NM_003742.4(ABCB11):c.3817A>G (p.Ile1273Val)	ABCB11 (I1273V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706607	NM_003742.4(ABCB11):c.3812T>A (p.Ile1271Asn)	ABCB11 (I1271N)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GLikely pathogenic
Select item 2087931	NM_003742.4(ABCB11):c.3810C>T (p.Cys1270=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893961	NM_003742.4(ABCB11):c.3807C>T (p.Thr1269=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1803119	NM_003742.4(ABCB11):c.3806C>T (p.Thr1269Ile)	ABCB11 (T1269I)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis	GUncertain significance
Select item 2113590	NM_003742.4(ABCB11):c.3804G>A (p.Arg1268=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2504002	NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)	ABCB11 (R1268Q)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1109440	NM_003742.4(ABCB11):c.3802C>A (p.Arg1268=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 967316	NM_003742.4(ABCB11):c.3802C>T (p.Arg1268Trp)	ABCB11 (R1268W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2662478	NM_003742.4(ABCB11):c.3800G>A (p.Gly1267Asp)	ABCB11 (G1267D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1093498	NM_003742.4(ABCB11):c.3798G>A (p.Glu1266=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896578	NM_003742.4(ABCB11):c.3792C>T (p.Ala1264=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130481	NM_003742.4(ABCB11):c.3787A>T (p.Lys1263Ter)	ABCB11 (K1263*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1099420	NM_003742.4(ABCB11):c.3786C>T (p.Asp1262=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 595687	NM_003742.4(ABCB11):c.3782T>C (p.Leu1261Pro)	ABCB11 (L1261P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498840	NM_003742.4(ABCB11):c.3778G>C (p.Ala1260Pro)	ABCB11 (A1260P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859209	NM_003742.4(ABCB11):c.3777del (p.Ala1260fs)	ABCB11 (A1260fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1623984	NM_003742.4(ABCB11):c.3775G>A (p.Val1259Ile)	ABCB11 (V1259I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1615893	NM_003742.4(ABCB11):c.3771G>T (p.Val1257=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 384753	NM_003742.4(ABCB11):c.3768G>A (p.Thr1256=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 6592	NM_003742.4(ABCB11):c.3767dup (p.Val1257fs)	ABCB11 (V1257fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2575388	NM_003742.4(ABCB11):c.3767C>T (p.Thr1256Met)	ABCB11 (T1256M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 287365	NM_003742.4(ABCB11):c.3767C>G (p.Thr1256Arg)	ABCB11 (T1256R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1573949	NM_003742.4(ABCB11):c.3766-4G>A	ABCB11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862476	NM_003742.4(ABCB11):c.3766-8C>T	ABCB11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 288472	NM_003742.4(ABCB11):c.3766-10C>T	ABCB11	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2877026	NM_003742.4(ABCB11):c.3766-15A>C	ABCB11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793070	NM_003742.4(ABCB11):c.3766-15A>T	ABCB11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875805	NM_003742.4(ABCB11):c.3766-17C>G	ABCB11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983156	NM_003742.4(ABCB11):c.3766-18T>C	ABCB11	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1246621	NM_003742.4(ABCB11):c.3765+282A>G	ABCB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278916	NM_003742.4(ABCB11):c.3765+206A>G	ABCB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2881055	NM_003742.4(ABCB11):c.3765+18A>G	ABCB11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918710	NM_003742.4(ABCB11):c.3765+6_3765+15dup	ABCB11	Duplication (intron variant)	not provided	GLikely benign
Select item 2884391	NM_003742.4(ABCB11):c.3765+16C>G	ABCB11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1142793	NM_003742.4(ABCB11):c.3765+8T>C	ABCB11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857561	NM_003742.4(ABCB11):c.3745T>C (p.Leu1249=)	ABCB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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