ABCB8 — 129 ClinVar variants
All ClinVar germline ABCB8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →
8 Benign · 11 Likely benign · 110 Uncertain significance
Full ABCB8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 117
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 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABCB8 p.Ala400Ser Uncertain significance Single submitter
- ABCB8 p.Ala571Val Uncertain significance Single submitter
- ABCB8 p.Ala606Thr Uncertain significance Single submitter
- ABCB8 p.Ala702Val Uncertain significance Single submitter
- ABCB8 p.Arg114His Uncertain significance Single submitter
- ABCB8 p.Arg18Gly Uncertain significance Single submitter
- ABCB8 p.Arg328Pro Uncertain significance Single submitter
- ABCB8 p.Arg335Gln Uncertain significance Single submitter
- ABCB8 p.Arg59Gln Uncertain significance Single submitter
- ABCB8 p.Arg602His Uncertain significance Single submitter
- ABCB8 p.Asp222His Uncertain significance Single submitter
- ABCB8 p.Asp667Asn Uncertain significance Single submitter
- ABCB8 p.Cys260Ser Uncertain significance Single submitter
- ABCB8 p.Gln26His Uncertain significance Single submitter
- ABCB8 p.Gln532Arg Uncertain significance Single submitter
- ABCB8 p.Glu100Asp Uncertain significance Single submitter
- ABCB8 p.Glu100Lys Uncertain significance Single submitter
- ABCB8 p.Glu471Lys Uncertain significance Single submitter
- ABCB8 p.Glu575Lys Uncertain significance Single submitter
- ABCB8 p.Gly12Ser Uncertain significance Single submitter
- ABCB8 p.Gly296Val Uncertain significance Single submitter
- ABCB8 p.Gly36Ala Uncertain significance Single submitter
- ABCB8 p.Gly386Arg Uncertain significance Single submitter
- ABCB8 p.Gly391Ala Uncertain significance Single submitter
- ABCB8 p.Gly391Arg Uncertain significance Single submitter
- ABCB8 p.Gly80Val Uncertain significance Single submitter
- ABCB8 p.His574Pro Uncertain significance Single submitter
- ABCB8 p.Ile379Thr Uncertain significance Single submitter
- ABCB8 p.Ile485Leu Uncertain significance Single submitter
- ABCB8 p.Ile485Thr Uncertain significance Single submitter
- ABCB8 p.Ile537Met Uncertain significance Single submitter
- ABCB8 p.Ile690Leu Uncertain significance Single submitter
- ABCB8 p.Leu23Val Uncertain significance Single submitter
- ABCB8 p.Leu277Val Uncertain significance Single submitter
- ABCB8 p.Leu280Pro Uncertain significance Single submitter
- ABCB8 p.Leu360Val Uncertain significance Single submitter
- ABCB8 p.Lys496Arg Uncertain significance Single submitter
- ABCB8 p.Lys707Thr Uncertain significance Single submitter
- ABCB8 p.Met171Val Uncertain significance Single submitter
- ABCB8 p.Met295Ile Uncertain significance Single submitter
- ABCB8 p.Met372Val Uncertain significance Single submitter
- ABCB8 p.Met665Val Uncertain significance Single submitter
- ABCB8 p.Pro108Ala Uncertain significance Single submitter
- ABCB8 p.Pro21Ser Uncertain significance Single submitter
- ABCB8 p.Pro482Ala Uncertain significance Single submitter
- ABCB8 p.Pro704Leu Uncertain significance Single submitter
- ABCB8 p.Ser174Phe Uncertain significance Single submitter
- ABCB8 p.Ser274Leu Uncertain significance Single submitter
- ABCB8 p.Ser39Arg Uncertain significance Single submitter
- ABCB8 p.Ser441Phe Uncertain significance Single submitter
- ABCB8 p.Thr240Ala Uncertain significance Single submitter
- ABCB8 p.Thr578Ser Uncertain significance Single submitter
- ABCB8 p.Thr700Ser Uncertain significance Single submitter
- ABCB8 p.Val136Ala Uncertain significance Single submitter
- ABCB8 p.Val202Ala Uncertain significance Single submitter
- ABCB8 p.Val489Met Uncertain significance Single submitter
- ABCB8 p.Val513Glu Uncertain significance Single submitter
- ABCB8 p.Val564Gly Uncertain significance Single submitter
Predictors split 59
The independent predictors disagree with each other — read with care.
- ABCB8 p.Arg452Leu Benign Multiple submitters
- ABCB8 p.Ser39Asn Benign Multiple submitters
- ABCB8 p.Ala424Ser Uncertain significance Single submitter
- ABCB8 p.Ala608Ser Uncertain significance Single submitter
- ABCB8 p.Ala697Val Uncertain significance Single submitter
- ABCB8 p.Arg276His Uncertain significance Single submitter
- ABCB8 p.Arg300Gly Uncertain significance Single submitter
- ABCB8 p.Arg304His Uncertain significance Single submitter
- ABCB8 p.Arg304Leu Uncertain significance Single submitter
- ABCB8 p.Arg312Gly Uncertain significance Single submitter
- ABCB8 p.Arg339Leu Uncertain significance Single submitter
- ABCB8 p.Arg348Cys Uncertain significance Single submitter
- ABCB8 p.Arg350Trp Uncertain significance Single submitter
- ABCB8 p.Arg356Cys Uncertain significance Single submitter
- ABCB8 p.Arg38His Likely benign Single submitter
- ABCB8 p.Arg467Cys Uncertain significance Single submitter
- ABCB8 p.Arg569Gln Likely benign Single submitter
- ABCB8 p.Arg569Gly Uncertain significance Single submitter
- ABCB8 p.Arg631Gln Uncertain significance Single submitter
- ABCB8 p.Arg639Trp Uncertain significance Single submitter
- ABCB8 p.Arg669Cys Likely benign Single submitter
- ABCB8 p.Arg669His Uncertain significance Single submitter
- ABCB8 p.Arg7Leu Uncertain significance Single submitter
- ABCB8 p.Asp508Asn Uncertain significance Single submitter
- ABCB8 p.Gln634Arg Uncertain significance Single submitter
- ABCB8 p.Glu338Asp Uncertain significance Single submitter
- ABCB8 p.Glu582Lys Uncertain significance Single submitter
- ABCB8 p.Glu678Asp Uncertain significance Single submitter
- ABCB8 p.Glu678Lys Uncertain significance Single submitter
- ABCB8 p.Gly13Asp Uncertain significance Single submitter
- ABCB8 p.Gly140Ser Uncertain significance Single submitter
- ABCB8 p.Gly357Ser Uncertain significance Single submitter
- ABCB8 p.Gly442Trp Uncertain significance Single submitter
- ABCB8 p.Gly658Glu Uncertain significance Single submitter
- ABCB8 p.Gly684Arg Uncertain significance Single submitter
- ABCB8 p.Gly684Glu Uncertain significance Single submitter
- ABCB8 p.Gly76Arg Uncertain significance Single submitter
- ABCB8 p.Gly9Arg Uncertain significance Single submitter
- ABCB8 p.His109Tyr Uncertain significance Single submitter
- ABCB8 p.Ile605Val Uncertain significance Single submitter
- ABCB8 p.Leu129Pro Uncertain significance Single submitter
- ABCB8 p.Leu302Phe Uncertain significance Single submitter
- ABCB8 p.Leu451Pro Uncertain significance Single submitter
- ABCB8 p.Met395Thr Uncertain significance Single submitter
- ABCB8 p.Pro126Ser Uncertain significance Single submitter
- ABCB8 p.Pro447Arg Uncertain significance Single submitter
- ABCB8 p.Ser174Pro Uncertain significance Single submitter
- ABCB8 p.Ser454Phe Uncertain significance Single submitter
- ABCB8 p.Ser501Phe Uncertain significance Single submitter
- ABCB8 p.Ser713Asn Likely benign Single submitter
- ABCB8 p.Thr645Met Uncertain significance Single submitter
- ABCB8 p.Val144Met Uncertain significance Single submitter
- ABCB8 p.Val146Ile Uncertain significance Single submitter
- ABCB8 p.Val156Leu Uncertain significance Single submitter
- ABCB8 p.Val202Ile Likely benign Single submitter
- ABCB8 p.Val242Met Uncertain significance Single submitter
- ABCB8 p.Val46Met Uncertain significance Single submitter
- ABCB8 p.Val633Ile Uncertain significance Single submitter
- ABCB8 p.Val664Ile Uncertain significance Single submitter
All ABCB8 variants
Benign 8
- c.564+4C>T Multiple submitters
- p.Ala101= Multiple submitters
- p.Arg452Leu Multiple submitters ⚠
- p.His201= Multiple submitters
- p.Leu124Val Multiple submitters
- p.Ser39Asn Multiple submitters ⚠
- p.Val110= Multiple submitters
- p.Val633= Multiple submitters
Likely benign 11
- p.Arg38His Single submitter ⚠
- p.Arg406= Single submitter
- p.Arg569Gln Single submitter ⚠
- p.Arg669Cys Single submitter ⚠
- p.Gly683= Single submitter
- p.Leu137= Single submitter
- p.Met515Thr Single submitter
- p.Ser713Asn Single submitter ⚠
- p.Val202Ile Single submitter ⚠
- p.Val446Ile Single submitter
- p.Val455Ile Single submitter
Uncertain significance 110
- p.Ala400Ser Single submitter ⚠
- p.Ala424Ser Single submitter ⚠
- p.Ala571Val Single submitter ⚠
- p.Ala606Thr Single submitter ⚠
- p.Ala608Ser Single submitter ⚠
- p.Ala697Val Single submitter ⚠
- p.Ala702Val Single submitter ⚠
- p.Arg114His Single submitter ⚠
- p.Arg18Gly Single submitter ⚠
- p.Arg276His Single submitter ⚠
- p.Arg300Gly Single submitter ⚠
- p.Arg304His Single submitter ⚠
- p.Arg304Leu Single submitter ⚠
- p.Arg312Gly Single submitter ⚠
- p.Arg328Pro Single submitter ⚠
- p.Arg335Gln Single submitter ⚠
- p.Arg339Leu Single submitter ⚠
- p.Arg348Cys Single submitter ⚠
- p.Arg350Trp Single submitter ⚠
- p.Arg356Cys Single submitter ⚠
- p.Arg467Cys Single submitter ⚠
- p.Arg569Gly Single submitter ⚠
- p.Arg59Gln Single submitter ⚠
- p.Arg602His Single submitter ⚠
- p.Arg631Gln Single submitter ⚠
- p.Arg639Trp Single submitter ⚠
- p.Arg669His Single submitter ⚠
- p.Arg7Leu Single submitter ⚠
- p.Asp222His Single submitter ⚠
- p.Asp508Asn Single submitter ⚠
- p.Asp667Asn Single submitter ⚠
- p.Cys260Ser Single submitter ⚠
- p.Gln26His Single submitter ⚠
- p.Gln532Arg Single submitter ⚠
- p.Gln634Arg Single submitter ⚠
- p.Glu100Asp Single submitter ⚠
- p.Glu100Lys Single submitter ⚠
- p.Glu338Asp Single submitter ⚠
- p.Glu471Lys Single submitter ⚠
- p.Glu575Lys Single submitter ⚠
- p.Glu582Lys Single submitter ⚠
- p.Glu678Asp Single submitter ⚠
- p.Glu678Lys Single submitter ⚠
- p.Gly12Ser Single submitter ⚠
- p.Gly13Asp Single submitter ⚠
- p.Gly140Ser Single submitter ⚠
- p.Gly296Val Single submitter ⚠
- p.Gly357Ser Single submitter ⚠
- p.Gly36Ala Single submitter ⚠
- p.Gly386Arg Single submitter ⚠
- p.Gly391Ala Single submitter ⚠
- p.Gly391Arg Single submitter ⚠
- p.Gly442Trp Single submitter ⚠
- p.Gly658Glu Single submitter ⚠
- p.Gly684Arg Single submitter ⚠
- p.Gly684Glu Single submitter ⚠
- p.Gly76Arg Single submitter ⚠
- p.Gly80Val Single submitter ⚠
- p.Gly9Arg Single submitter ⚠
- p.His109Tyr Single submitter ⚠
- p.His574Pro Single submitter ⚠
- p.Ile379Thr Single submitter ⚠
- p.Ile485Leu Single submitter ⚠
- p.Ile485Thr Single submitter ⚠
- p.Ile537Met Single submitter ⚠
- p.Ile605Val Single submitter ⚠
- p.Ile690Leu Single submitter ⚠
- p.Leu129Pro Single submitter ⚠
- p.Leu23Val Single submitter ⚠
- p.Leu277Val Single submitter ⚠
- p.Leu280Pro Single submitter ⚠
- p.Leu302Phe Single submitter ⚠
- p.Leu360Val Single submitter ⚠
- p.Leu451Pro Single submitter ⚠
- p.Lys496Arg Single submitter ⚠
- p.Lys707Thr Single submitter ⚠
- p.Met171Val Single submitter ⚠
- p.Met295Ile Single submitter ⚠
- p.Met372Val Single submitter ⚠
- p.Met395Thr Single submitter ⚠
- p.Met665Val Single submitter ⚠
- p.Pro108Ala Single submitter ⚠
- p.Pro126Ser Single submitter ⚠
- p.Pro21Ser Single submitter ⚠
- p.Pro447Arg Single submitter ⚠
- p.Pro482Ala Single submitter ⚠
- p.Pro704Leu Single submitter ⚠
- p.Ser174Phe Single submitter ⚠
- p.Ser174Pro Single submitter ⚠
- p.Ser274Leu Single submitter ⚠
- p.Ser39Arg Single submitter ⚠
- p.Ser441Phe Single submitter ⚠
- p.Ser454Phe Single submitter ⚠
- p.Ser501Phe Single submitter ⚠
- p.Thr240Ala Single submitter ⚠
- p.Thr578Ser Single submitter ⚠
- p.Thr645Met Single submitter ⚠
- p.Thr700Ser Single submitter ⚠
- p.Val136Ala Single submitter ⚠
- p.Val144Met Single submitter ⚠
- p.Val146Ile Single submitter ⚠
- p.Val156Leu Single submitter ⚠
- p.Val202Ala Single submitter ⚠
- p.Val242Met Single submitter ⚠
- p.Val46Met Single submitter ⚠
- p.Val489Met Single submitter ⚠
- p.Val513Glu Single submitter ⚠
- p.Val564Gly Single submitter ⚠
- p.Val633Ile Single submitter ⚠
- p.Val664Ile Single submitter ⚠