ABCB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC123956263, LOC123956264 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 151098	GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1	ABCB1, ABCB4 +78 more	Copy number loss	See cases	GLikely pathogenic
Select item 829606	NM_001348946.2(ABCB1):c.*424C>T	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829605	NM_001348946.2(ABCB1):c.*421T>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829604	NM_001348946.2(ABCB1):c.*420C>G	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829603	NM_001348946.2(ABCB1):c.*394G>A	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829602	NM_001348946.2(ABCB1):c.*379G>A	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829601	NM_001348946.2(ABCB1):c.*363A>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829600	NM_001348946.2(ABCB1):c.*298C>T	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829599	NM_001348946.2(ABCB1):c.*272T>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829598	NM_001348946.2(ABCB1):c.*267T>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829597	NM_001348946.2(ABCB1):c.*223C>T	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829596	NM_001348946.2(ABCB1):c.*193A>G	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829595	NM_001348946.2(ABCB1):c.*189A>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828795	NM_001348946.2(ABCB1):c.*186A>T	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828794	NM_001348946.2(ABCB1):c.*183del	ABCB1	Deletion (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828793	NM_001348946.2(ABCB1):c.*183G>T	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828792	NM_001348946.2(ABCB1):c.*179A>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828791	NM_001348946.2(ABCB1):c.*174C>T	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828790	NM_001348946.2(ABCB1):c.*161G>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828789	NM_001348946.2(ABCB1):c.*155G>A	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828788	NM_001348946.2(ABCB1):c.*154A>G	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828787	NM_001348946.2(ABCB1):c.*91G>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828786	NM_001348946.2(ABCB1):c.*89A>T	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828785	NM_001348946.2(ABCB1):c.*69A>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828784	NM_001348946.2(ABCB1):c.*64G>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828783	NM_001348946.2(ABCB1):c.*63A>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828782	NM_001348946.2(ABCB1):c.*34del	ABCB1	Deletion (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828781	NM_001348946.2(ABCB1):c.*28T>G	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828780	NM_001348946.2(ABCB1):c.*20T>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829594	NM_001348946.2(ABCB1):c.*13T>C	ABCB1	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829593	NM_001348946.2(ABCB1):c.3837C>T (p.Arg1279=)	ABCB1	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response
Select item 3288515	NM_001348946.2(ABCB1):c.3836G>A (p.Arg1279His)	ABCB1 (R1279H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118728	NM_001348946.2(ABCB1):c.3835C>A (p.Arg1279Ser)	ABCB1 (R1279S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118709	NM_001348946.2(ABCB1):c.3826G>A (p.Gly1276Arg)	ABCB1 (G1276R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 829592	NM_001348946.2(ABCB1):c.3801T>A (p.Tyr1267Ter)	ABCB1 (Y1337* +1 more)	Single nucleotide variant (nonsense)	Tramadol response	Gdrug response
Select item 829591	NM_001348946.2(ABCB1):c.3800A>C (p.Tyr1267Ser)	ABCB1 (Y1267S +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829590	NM_001348946.2(ABCB1):c.3799T>G (p.Tyr1267Asp)	ABCB1 (Y1337D +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 2358503	NM_001348946.2(ABCB1):c.3769C>T (p.His1257Tyr)	ABCB1 (H1257Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053022	NM_001348946.2(ABCB1):c.3768G>A (p.Thr1256=)	ABCB1	Single nucleotide variant (synonymous variant)	ABCB1-related disorder	GLikely benign
Select item 829589	NM_001348946.2(ABCB1):c.3758A>G (p.Glu1253Gly)	ABCB1 (E1253G +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 778935	NM_001348946.2(ABCB1):c.3751G>A (p.Val1251Ile)	ABCB1 (V1251I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 829588	NM_001348946.2(ABCB1):c.3749G>A (p.Arg1250Lys)	ABCB1 (R1250K +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 747040	NM_001348946.2(ABCB1):c.3747C>G (p.Gly1249=)	ABCB1	Single nucleotide variant (synonymous variant)	ABCB1-related disorder +1 more	GLikely benign
Select item 829587	NM_001348946.2(ABCB1):c.3746G>A (p.Gly1249Asp)	ABCB1 (G1319D +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 3118662	NM_001348946.2(ABCB1):c.3697C>T (p.Arg1233Cys)	ABCB1 (R1233C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 829586	NM_001348946.2(ABCB1):c.3691G>A (p.Ala1231Thr)	ABCB1 (A1301T +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829585	NM_001348946.2(ABCB1):c.3688A>G (p.Ile1230Val)	ABCB1 (I1300V +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829584	NM_001348946.2(ABCB1):c.3679T>A (p.Cys1227Ser)	ABCB1 (C1297S +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 3118623	NM_001348946.2(ABCB1):c.3673C>T (p.Arg1225Cys)	ABCB1 (R1225C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485245	NM_001348946.2(ABCB1):c.3665G>C (p.Arg1222Thr)	ABCB1 (R1292T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 829583	NM_001348946.2(ABCB1):c.3649G>A (p.Ala1217Thr)	ABCB1 (A1217T +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829582	NM_001348946.2(ABCB1):c.3643C>A (p.Gln1215Lys)	ABCB1 (Q1285K +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829581	NM_001348946.2(ABCB1):c.3641T>G (p.Val1214Gly)	ABCB1 (V1284G +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829580	NM_001348946.2(ABCB1):c.3637-11T>G	ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828779	NM_001348946.2(ABCB1):c.3636+30T>C	ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828778	NM_001348946.2(ABCB1):c.3601G>A (p.Glu1201Lys)	ABCB1 (E1201K +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 828777	NM_001348946.2(ABCB1):c.3571G>A (p.Val1191Ile)	ABCB1 (V1191I +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 828776	NM_001348946.2(ABCB1):c.3554C>A (p.Ala1185Asp)	ABCB1 (A1185D +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 828775	NM_001348946.2(ABCB1):c.3547C>T (p.Arg1183Cys)	ABCB1 (R1253C +1 more)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 13	GUncertain significance
Select item 828774	NM_001348946.2(ABCB1):c.3544C>T (p.Gln1182Ter)	ABCB1 (Q1182* +1 more)	Single nucleotide variant (nonsense)	Tramadol response	Gdrug response
Select item 828773	NM_001348946.2(ABCB1):c.3543A>C (p.Lys1181Asn)	ABCB1 (K1251N +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 828772	NM_001348946.2(ABCB1):c.3541A>T (p.Lys1181Ter)	ABCB1 (K1181* +1 more)	Single nucleotide variant (nonsense)	Tramadol response	Gdrug response
Select item 828771	NM_001348946.2(ABCB1):c.3523C>T (p.Gln1175Ter)	ABCB1 (Q1175* +1 more)	Single nucleotide variant (nonsense)	Tramadol response	Gdrug response
Select item 828770	NM_001348946.2(ABCB1):c.3501T>A (p.Thr1167=)	ABCB1	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response
Select item 828769	NM_001348946.2(ABCB1):c.3490-11C>T	ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828768	NM_001348946.2(ABCB1):c.3490-66C>T	ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828767	NM_001348946.2(ABCB1):c.3490-84A>C	ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828766	NM_001348946.2(ABCB1):c.3489+18T>C	ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828765	NM_001348946.2(ABCB1):c.3489+5G>A	ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 3288687	NM_001348946.2(ABCB1):c.3477G>T (p.Glu1159Asp)	ABCB1 (E1159D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 515930	NM_001348946.2(ABCB1):c.3435= (p.Ile1145=)	ABCB1	Single nucleotide variant (no sequence alteration)	not specified	GBenign
Select item 225939	NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=)	ABCB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3038471	NM_001348946.2(ABCB1):c.3421T>A (p.Ser1141Thr)	ABCB1 (S1141T +1 more)	Single nucleotide variant (missense variant)	ABCB1-related disorder	GLikely benign
Select item 981871	NM_001348946.2(ABCB1):c.3412C>T (p.Arg1138Trp)	ABCB1 (R1138W +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 781911	NM_001348946.2(ABCB1):c.3396C>T (p.Ala1132=)	ABCB1	Single nucleotide variant (synonymous variant)	ABCB1-related disorder +1 more	GBenign/Likely benign
Select item 3118561	NM_001348946.2(ABCB1):c.3385G>A (p.Glu1129Lys)	ABCB1 (E1129K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 829579	NM_001348946.2(ABCB1):c.3377G>T (p.Ser1126Ile)	ABCB1 (S1126I +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829578	NM_001348946.2(ABCB1):c.3373T>A (p.Cys1125Ser)	ABCB1 (C1125S +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829577	NM_001348946.2(ABCB1):c.3370G>A (p.Asp1124Asn)	ABCB1 (D1124N +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829576	NM_001348946.2(ABCB1):c.3355G>A (p.Glu1119Lys)	ABCB1 (E1119K +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829575	NM_001348946.2(ABCB1):c.3352C>G (p.Gln1118Glu)	ABCB1 (Q1118E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 829574	NM_001348946.2(ABCB1):c.3351C>G (p.Ser1117=)	ABCB1	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response
Select item 728508	NM_001348946.2(ABCB1):c.3320A>C (p.Gln1107Pro)	ABCB1 (Q1177P +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 829573	NM_001348946.2(ABCB1):c.3289del (p.Asp1097fs)	ABCB1 (D1097fs +1 more)	Deletion (frameshift variant)	Tramadol response	Gdrug response
Select item 829572	NM_001348946.2(ABCB1):c.3283-37C>T	ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829571	NM_001348946.2(ABCB1):c.3283-50C>T	ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829570	NM_001348946.2(ABCB1):c.3283-54G>A	ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829569	NM_001348946.2(ABCB1):c.3283-61T>C	ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829568	NM_001348946.2(ABCB1):c.3283-66G>A	ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829567	NM_001348946.2(ABCB1):c.3282+32G>T	ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829566	NM_001348946.2(ABCB1):c.3282+27G>T	ABCB1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828764	NM_001348946.2(ABCB1):c.3282+2T>G	ABCB1	Single nucleotide variant (splice donor variant)	Tramadol response	Gdrug response
Select item 828763	NM_001348946.2(ABCB1):c.3281T>G (p.Val1094Gly)	ABCB1 (V1164G +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 828762	NM_001348946.2(ABCB1):c.3277A>G (p.Lys1093Glu)	ABCB1 (K1163E +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 2351184	NM_001348946.2(ABCB1):c.3247C>G (p.Leu1083Val)	ABCB1 (L1153V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 828761	NM_001348946.2(ABCB1):c.3235G>A (p.Val1079Met)	ABCB1 (V1079M +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 828760	NM_001348946.2(ABCB1):c.3224G>A (p.Gly1075Glu)	ABCB1 (G1075E +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 828759	NM_001348946.2(ABCB1):c.3207G>C (p.Val1069=)	ABCB1	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response

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