CYP8B1 — 64 ClinVar variants
All ClinVar germline CYP8B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
6 Benign · 7 Likely benign · 51 Uncertain significance
Full CYP8B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP8B1 p.Lys37Glu Uncertain significance Multiple submitters
- CYP8B1 p.Ala126Thr Uncertain significance Single submitter
- CYP8B1 p.Ala48Val Uncertain significance Single submitter
- CYP8B1 p.Arg114His Uncertain significance Single submitter
- CYP8B1 p.Arg349Trp Uncertain significance Single submitter
- CYP8B1 p.Arg407Cys Uncertain significance Single submitter
- CYP8B1 p.Arg443Gly Uncertain significance Single submitter
- CYP8B1 p.Gln117His Uncertain significance Single submitter
- CYP8B1 p.Gln198His Uncertain significance Single submitter
- CYP8B1 p.Gln260Leu Uncertain significance Single submitter
- CYP8B1 p.Gln71Leu Uncertain significance Single submitter
- CYP8B1 p.Glu362Lys Uncertain significance Single submitter
- CYP8B1 p.Gly118Ala Uncertain significance Single submitter
- CYP8B1 p.Gly187Arg Uncertain significance Single submitter
- CYP8B1 p.Gly200Arg Uncertain significance Single submitter
- CYP8B1 p.Gly230Asp Uncertain significance Single submitter
- CYP8B1 p.Gly65Val Uncertain significance Single submitter
- CYP8B1 p.His397Tyr Uncertain significance Single submitter
- CYP8B1 p.Leu131Pro Uncertain significance Single submitter
- CYP8B1 p.Leu331Ile Uncertain significance Single submitter
- CYP8B1 p.Leu350Pro Uncertain significance Single submitter
- CYP8B1 p.Lys421Arg Uncertain significance Single submitter
- CYP8B1 p.Lys425Met Uncertain significance Single submitter
- CYP8B1 p.Phe54Ser Uncertain significance Single submitter
- CYP8B1 p.Pro394Ser Uncertain significance Single submitter
- CYP8B1 p.Pro477Leu Uncertain significance Single submitter
- CYP8B1 p.Ser158Arg Uncertain significance Single submitter
- CYP8B1 p.Thr355Asn Uncertain significance Single submitter
- CYP8B1 p.Thr365Ala Uncertain significance Single submitter
- CYP8B1 p.Thr69Ala Uncertain significance Single submitter
- CYP8B1 p.Trp433Cys Uncertain significance Single submitter
- CYP8B1 p.Val242Met Uncertain significance Single submitter
- CYP8B1 p.Val67Met Uncertain significance Single submitter
- CYP8B1 p.Val80Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- CYP8B1 p.Arg231Gln Uncertain significance Single submitter
- CYP8B1 p.Arg28Cys Uncertain significance Single submitter
- CYP8B1 p.Arg306Trp Uncertain significance Single submitter
- CYP8B1 p.Arg309Thr Uncertain significance Single submitter
- CYP8B1 p.Arg377Cys Uncertain significance Single submitter
- CYP8B1 p.Gly371Arg Uncertain significance Single submitter
- CYP8B1 p.Met392Val Likely benign Single submitter
- CYP8B1 p.Met431Ile Uncertain significance Single submitter
- CYP8B1 p.Met60Ile Uncertain significance Single submitter
- CYP8B1 p.Phe203Leu Uncertain significance Single submitter
- CYP8B1 p.Phe213Leu Uncertain significance Single submitter
- CYP8B1 p.Phe327Leu Uncertain significance Single submitter
- CYP8B1 p.Phe99Leu Uncertain significance Single submitter
All CYP8B1 variants
Benign 6
- p.Gly266= Multiple submitters
- p.Leu144= Multiple submitters
- p.Leu357= Multiple submitters
- p.Leu357Phe Multiple submitters
- p.Lys238Arg Multiple submitters
- p.Val402Ile Multiple submitters
Likely benign 7
- p.Arg224Gln Single submitter
- p.Arg415= Single submitter
- p.Gly200Glu Single submitter
- p.Gly436= Single submitter
- p.Met392Val Single submitter ⚠
- p.Ser154Pro Single submitter
- p.Trp31Arg Single submitter
Uncertain significance 51
- p.Lys37Glu Multiple submitters ⚠
- p.Ala126Thr Single submitter ⚠
- p.Ala48Val Single submitter ⚠
- p.Arg114His Single submitter ⚠
- p.Arg231Gln Single submitter ⚠
- p.Arg28Cys Single submitter ⚠
- p.Arg306Trp Single submitter ⚠
- p.Arg309Thr Single submitter ⚠
- p.Arg349Trp Single submitter ⚠
- p.Arg377Cys Single submitter ⚠
- p.Arg407Cys Single submitter ⚠
- p.Arg443Gly Single submitter ⚠
- p.Gln117His Single submitter ⚠
- p.Gln198His Single submitter ⚠
- p.Gln260Leu Single submitter ⚠
- p.Gln71Leu Single submitter ⚠
- p.Glu362Lys Single submitter ⚠
- p.Gly118Ala Single submitter ⚠
- p.Gly187Arg Single submitter ⚠
- p.Gly200Arg Single submitter ⚠
- p.Gly230Asp Single submitter ⚠
- p.Gly371Arg Single submitter ⚠
- p.Gly65Val Single submitter ⚠
- p.His130Gln Single submitter
- p.His397Tyr Single submitter ⚠
- p.Leu131Pro Single submitter ⚠
- p.Leu331Ile Single submitter ⚠
- p.Leu350Pro Single submitter ⚠
- p.Leu388Pro Single submitter
- p.Lys421Arg Single submitter ⚠
- p.Lys425Met Single submitter ⚠
- p.Met431Ile Single submitter ⚠
- p.Met60Ile Single submitter ⚠
- p.Phe203Leu Single submitter ⚠
- p.Phe213Leu Single submitter ⚠
- p.Phe327Leu Single submitter ⚠
- p.Phe54Ser Single submitter ⚠
- p.Phe99Leu Single submitter ⚠
- p.Pro354Ser Single submitter
- p.Pro394Ser Single submitter ⚠
- p.Pro477Leu Single submitter ⚠
- p.Ser158Arg Single submitter ⚠
- p.Ser241Phe Single submitter
- p.Thr355Asn Single submitter ⚠
- p.Thr365Ala Single submitter ⚠
- p.Thr69Ala Single submitter ⚠
- p.Trp433Cys Single submitter ⚠
- p.Val242Met Single submitter ⚠
- p.Val458Gly Single submitter
- p.Val67Met Single submitter ⚠
- p.Val80Ile Single submitter ⚠