ABCB1 — 133 ClinVar variants
All ClinVar germline ABCB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →
4 Pathogenic · 1 Likely pathogenic · 13 Benign · 3 Benign/Likely benign · 24 Likely benign · 88 Uncertain significance
Full ABCB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 89
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABCB1 p.Ala1275Val Uncertain significance Single submitter
- ABCB1 p.Ala260Ser Uncertain significance Single submitter
- ABCB1 p.Ala266Val Uncertain significance Single submitter
- ABCB1 p.Ala641Gly Uncertain significance Single submitter
- ABCB1 p.Ala650Asp Uncertain significance Single submitter
-
ABCB1 p.Arg1183Cys
Uncertain significance
Single submitter
inflammatory bowel disease 13
- ABCB1 p.Arg1233Cys Uncertain significance Single submitter
- ABCB1 p.Arg1279His Uncertain significance Single submitter
- ABCB1 p.Arg1279Ser Uncertain significance Single submitter
- ABCB1 p.Arg210His Uncertain significance Single submitter
- ABCB1 p.Arg659Lys Uncertain significance Single submitter
- ABCB1 p.Arg670Gly Uncertain significance Single submitter
- ABCB1 p.Asn462Lys Uncertain significance Single submitter
- ABCB1 p.Asn753Asp Uncertain significance Single submitter
- ABCB1 p.Asp110Asn Uncertain significance Single submitter
- ABCB1 p.Asp77Val Uncertain significance Single submitter
- ABCB1 p.Gln1054Arg Uncertain significance Single submitter
- ABCB1 p.Gln1118Glu Uncertain significance Single submitter
- ABCB1 p.Gln1193Arg Uncertain significance Single submitter
- ABCB1 p.Gly1173Arg Uncertain significance Single submitter
- ABCB1 p.Gly211Asp Uncertain significance Single submitter
- ABCB1 p.Gly600Asp Uncertain significance Single submitter
- ABCB1 p.Gly737Glu Uncertain significance Single submitter
- ABCB1 p.His1257Tyr Uncertain significance Single submitter
- ABCB1 p.His587Arg Uncertain significance Single submitter
- ABCB1 p.Ile1115Thr Uncertain significance Single submitter
- ABCB1 p.Ile1154Val Uncertain significance Single submitter
- ABCB1 p.Ile1186Thr Uncertain significance Single submitter
- ABCB1 p.Ile352Thr Uncertain significance Single submitter
- ABCB1 p.Ile488Phe Uncertain significance Single submitter
- ABCB1 p.Ile719Val Uncertain significance Single submitter
- ABCB1 p.Ile731Val Uncertain significance Single submitter
- ABCB1 p.Leu19Gln Uncertain significance Single submitter
- ABCB1 p.Leu46Ile Uncertain significance Single submitter
- ABCB1 p.Leu757Pro Uncertain significance Single submitter
- ABCB1 p.Leu968Arg Uncertain significance Single submitter
- ABCB1 p.Met1010Thr Uncertain significance Single submitter
- ABCB1 p.Met440Ile Uncertain significance Single submitter
- ABCB1 p.Met653Ile Uncertain significance Single submitter
- ABCB1 p.Met919Lys Uncertain significance Single submitter
- ABCB1 p.Phe1037Leu Uncertain significance Single submitter
- ABCB1 p.Phe336Ser Uncertain significance Single submitter
- ABCB1 p.Phe777Leu Uncertain significance Single submitter
- ABCB1 p.Pro477Ser Uncertain significance Single submitter
- ABCB1 p.Ser309Phe Uncertain significance Single submitter
- ABCB1 p.Thr740Ile Uncertain significance Single submitter
- ABCB1 p.Tyr1087Asp Uncertain significance Single submitter
- ABCB1 p.Val1245Met Uncertain significance Single submitter
- ABCB1 p.Val988Met Uncertain significance Single submitter
-
ABCB1 p.Ile849Thr
Uncertain significance
No assertion criteria
ABCB1-related disorder
- ABCB1 p.Thr1015Asn Uncertain significance No assertion criteria
Predictors split 38
The independent predictors disagree with each other — read with care.
- ABCB1 p.Ser400Asn Benign Multiple submitters
-
ABCB1 p.Ser893Thr
Benign
Multiple submitters
gastric cancer
- ABCB1 p.Ala220Thr Uncertain significance Single submitter
- ABCB1 p.Ala248Gly Uncertain significance Single submitter
- ABCB1 p.Ala828Thr Uncertain significance Single submitter
-
ABCB1 p.Arg1138Trp
Uncertain significance
Single submitter
hereditary breast ovarian cancer syndrome
- ABCB1 p.Arg1222Thr Uncertain significance Single submitter
- ABCB1 p.Arg1225Cys Uncertain significance Single submitter
-
ABCB1 p.Arg157Gln
Uncertain significance
Single submitter
inflammatory bowel disease 13
- ABCB1 p.Arg669His Uncertain significance Single submitter
- ABCB1 p.Arg669Leu Uncertain significance Single submitter
- ABCB1 p.Arg673Cys Uncertain significance Single submitter
- ABCB1 p.Cys1125Gly Uncertain significance Single submitter
- ABCB1 p.Gln530Arg Uncertain significance Single submitter
- ABCB1 p.Glu1129Lys Uncertain significance Single submitter
- ABCB1 p.Glu1159Asp Uncertain significance Single submitter
- ABCB1 p.Glu972Lys Uncertain significance Single submitter
- ABCB1 p.Gly1055Arg Uncertain significance Single submitter
- ABCB1 p.Gly1276Arg Uncertain significance Single submitter
-
ABCB1 p.Ile160Met
Uncertain significance
Single submitter
inflammatory bowel disease 13
- ABCB1 p.Ile541Val Uncertain significance Single submitter
- ABCB1 p.Leu1083Val Uncertain significance Single submitter
- ABCB1 p.Leu49Phe Uncertain significance Single submitter
- ABCB1 p.Leu49Ser Uncertain significance Single submitter
- ABCB1 p.Phe151Leu Uncertain significance Single submitter
- ABCB1 p.Phe204Leu Uncertain significance Single submitter
- ABCB1 p.Ser1022Arg Uncertain significance Single submitter
- ABCB1 p.Ser323Leu Uncertain significance Single submitter
- ABCB1 p.Ser661Asn Uncertain significance Single submitter
- ABCB1 p.Ser671Arg Uncertain significance Single submitter
- ABCB1 p.Ser923Arg Uncertain significance Single submitter
- ABCB1 p.Thr591Ala Uncertain significance Single submitter
- ABCB1 p.Thr815Ala Uncertain significance Single submitter
- ABCB1 p.Thr93Ile Uncertain significance Single submitter
- ABCB1 p.Tyr998Ser Uncertain significance Single submitter
- ABCB1 p.Val495Ile Uncertain significance Single submitter
- ABCB1 p.Val546Leu Uncertain significance Single submitter
- ABCB1 p.Val607Met Uncertain significance Single submitter
All ABCB1 variants
Pathogenic 4
- c.2786+1G>T No assertion criteria encephalopathy, acute transient
- c.3053-3056del No assertion criteria encephalopathy, acute transient
- p.Arg794Ter No assertion criteria encephalopathy, acute transient
- p.Gly185Val No assertion criteria COLCHICINE RESISTANCE
Likely pathogenic 1
- p.Ser893Tyr No assertion criteria idiopathic generalized epilepsy
Benign 13
- c.287-25G>T Multiple submitters
- p.Ala1132= Multiple submitters
- p.Gly412= Multiple submitters epilepsy
- p.Ile1145= Multiple submitters
- p.Ile261Val Multiple submitters
- p.Ser400Asn Multiple submitters ⚠
- p.Ser893Ala Multiple submitters epilepsy
- p.Ser893Thr Multiple submitters gastric cancer ⚠
- p.Val1251Ile Multiple submitters
- c.1225-4G>A Single submitter
- p.Asn183Ser Single submitter
- p.Leu554= Single submitter
- c.-43A>G No assertion criteria ABCB1-related disorder
Benign/Likely benign 3
- p.Gln1107Pro Multiple submitters
- p.Glu243= Multiple submitters
- p.Leu884= Multiple submitters
Likely benign 24
- p.Glu618= Multiple submitters
- p.Ile598= Multiple submitters
- c.1000-8T>A Single submitter
- c.1225-34T>C Single submitter
- c.3085-10C>T Single submitter
- p.Ala246= Single submitter
- p.Gly1249= Single submitter
- p.His383= Single submitter
- p.Ile692Val Single submitter
- p.Ile78Thr Single submitter
- p.Leu975= Single submitter
- p.Lys702= Single submitter
- p.Pro927= Single submitter
- p.Ser893= Single submitter
- c.1887+4T>G No assertion criteria ABCB1-related disorder
- c.2397+8T>A No assertion criteria ABCB1-related disorder
- c.2786+9C>T No assertion criteria ABCB1-related disorder
- c.338+5T>C No assertion criteria ABCB1-related disorder
- c.702+9A>T No assertion criteria ABCB1-related disorder
- p.Leu662= No assertion criteria ABCB1-related disorder
- p.Phe204= No assertion criteria ABCB1-related disorder
- p.Pro39= No assertion criteria ABCB1-related disorder
- p.Ser1141Thr No assertion criteria ABCB1-related disorder
- p.Thr1256= No assertion criteria ABCB1-related disorder
Uncertain significance 88
- p.Ala1275Val Single submitter ⚠
- p.Ala220Thr Single submitter ⚠
- p.Ala248Gly Single submitter ⚠
- p.Ala260Ser Single submitter ⚠
- p.Ala266Val Single submitter ⚠
- p.Ala641Gly Single submitter ⚠
- p.Ala650Asp Single submitter ⚠
- p.Ala828Thr Single submitter ⚠
- p.Arg1138Trp Single submitter hereditary breast ovarian cancer syndrome ⚠
- p.Arg1183Cys Single submitter inflammatory bowel disease 13 ⚠
- p.Arg1222Thr Single submitter ⚠
- p.Arg1225Cys Single submitter ⚠
- p.Arg1233Cys Single submitter ⚠
- p.Arg1279His Single submitter ⚠
- p.Arg1279Ser Single submitter ⚠
- p.Arg157Gln Single submitter inflammatory bowel disease 13 ⚠
- p.Arg210His Single submitter ⚠
- p.Arg659Lys Single submitter ⚠
- p.Arg669His Single submitter ⚠
- p.Arg669Leu Single submitter ⚠
- p.Arg670Gly Single submitter ⚠
- p.Arg673Cys Single submitter ⚠
- p.Asn462Lys Single submitter ⚠
- p.Asn753Asp Single submitter ⚠
- p.Asp110Asn Single submitter ⚠
- p.Asp77Val Single submitter ⚠
- p.Cys1125Gly Single submitter ⚠
- p.Gln1054Arg Single submitter ⚠
- p.Gln1118Glu Single submitter ⚠
- p.Gln1193Arg Single submitter ⚠
- p.Gln530Arg Single submitter ⚠
- p.Glu1129Lys Single submitter ⚠
- p.Glu1159Asp Single submitter ⚠
- p.Glu972Lys Single submitter ⚠
- p.Gly1055Arg Single submitter ⚠
- p.Gly1173Arg Single submitter ⚠
- p.Gly1276Arg Single submitter ⚠
- p.Gly211Asp Single submitter ⚠
- p.Gly600Asp Single submitter ⚠
- p.Gly737Glu Single submitter ⚠
- p.His1257Tyr Single submitter ⚠
- p.His587Arg Single submitter ⚠
- p.Ile1115Thr Single submitter ⚠
- p.Ile1154Val Single submitter ⚠
- p.Ile1186Thr Single submitter ⚠
- p.Ile160Met Single submitter inflammatory bowel disease 13 ⚠
- p.Ile352Thr Single submitter ⚠
- p.Ile488Phe Single submitter ⚠
- p.Ile541Val Single submitter ⚠
- p.Ile719Val Single submitter ⚠
- p.Ile731Val Single submitter ⚠
- p.Leu1083Val Single submitter ⚠
- p.Leu19Gln Single submitter ⚠
- p.Leu46Ile Single submitter ⚠
- p.Leu49Phe Single submitter ⚠
- p.Leu49Ser Single submitter ⚠
- p.Leu757Pro Single submitter ⚠
- p.Leu968Arg Single submitter ⚠
- p.Met1010Thr Single submitter ⚠
- p.Met440Ile Single submitter ⚠
- p.Met653Ile Single submitter ⚠
- p.Met919Lys Single submitter ⚠
- p.Phe1037Leu Single submitter ⚠
- p.Phe151Leu Single submitter ⚠
- p.Phe204Leu Single submitter ⚠
- p.Phe336Ser Single submitter ⚠
- p.Phe777Leu Single submitter ⚠
- p.Pro477Ser Single submitter ⚠
- p.Ser1022Arg Single submitter ⚠
- p.Ser2Cys Single submitter inflammatory bowel disease 13
- p.Ser309Phe Single submitter ⚠
- p.Ser323Leu Single submitter ⚠
- p.Ser661Asn Single submitter ⚠
- p.Ser671Arg Single submitter ⚠
- p.Ser923Arg Single submitter ⚠
- p.Thr591Ala Single submitter ⚠
- p.Thr740Ile Single submitter ⚠
- p.Thr815Ala Single submitter ⚠
- p.Thr93Ile Single submitter ⚠
- p.Tyr1087Asp Single submitter ⚠
- p.Tyr998Ser Single submitter ⚠
- p.Val1245Met Single submitter ⚠
- p.Val495Ile Single submitter ⚠
- p.Val546Leu Single submitter ⚠
- p.Val607Met Single submitter ⚠
- p.Val988Met Single submitter ⚠
- p.Ile849Thr No assertion criteria ABCB1-related disorder ⚠
- p.Thr1015Asn No assertion criteria ⚠