BAAT — 200 ClinVar variants
All ClinVar germline BAAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →
5 Pathogenic · 1 Likely pathogenic · 8 Conflicting · 24 Benign · 4 Benign/Likely benign · 26 Likely benign · 132 Uncertain significance
Full BAAT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 88
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
BAAT p.Met76Val
Pathogenic
No assertion criteria
bile acid conjugation defect 1
-
BAAT p.Pro84Thr
Pathogenic
No assertion criteria
bile acid conjugation defect 1
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BAAT p.Ala337Thr Uncertain significance Multiple submitters
-
BAAT p.Arg130Ser
Uncertain significance
Multiple submitters
hypercholanemia, familial 1
-
BAAT p.Asp42Glu
Uncertain significance
Multiple submitters
hypercholanemia, familial 1
- BAAT p.His74Tyr Uncertain significance Multiple submitters
- BAAT p.Val114Glu Uncertain significance Multiple submitters
- BAAT p.Ala306Gly Uncertain significance Single submitter
- BAAT p.Arg143Gln Uncertain significance Single submitter
- BAAT p.Arg184His Uncertain significance Single submitter
-
BAAT p.Arg201Cys
Uncertain significance
Single submitter
BAAT-related disorder
- BAAT p.Asn261Ser Uncertain significance Single submitter
-
BAAT p.Asp379Asn
Uncertain significance
Single submitter
hypercholanemia, familial 1
- BAAT p.Asp95Glu Uncertain significance Single submitter
- BAAT p.Cys373Tyr Uncertain significance Single submitter
- BAAT p.Gln102Leu Uncertain significance Single submitter
- BAAT p.Glu111Gln Uncertain significance Single submitter
- BAAT p.His18Arg Uncertain significance Single submitter
-
BAAT p.His347Tyr
Uncertain significance
Single submitter
hypercholanemia, familial 1
- BAAT p.Ile331Thr Uncertain significance Single submitter
- BAAT p.Leu151Arg Uncertain significance Single submitter
- BAAT p.Leu290Met Uncertain significance Single submitter
- BAAT p.Met43Val Uncertain significance Single submitter
- BAAT p.Met71Leu Uncertain significance Single submitter
- BAAT p.Phe55Leu Uncertain significance Single submitter
- BAAT p.Ser46Pro Uncertain significance Single submitter
- BAAT p.Thr206Lys Uncertain significance Single submitter
- BAAT p.Thr298Ala Uncertain significance Single submitter
- BAAT p.Thr376Ala Uncertain significance Single submitter
- BAAT p.Tyr108Cys Uncertain significance Single submitter
- BAAT p.Tyr45Cys Uncertain significance Single submitter
- BAAT p.Val142Ile Uncertain significance Single submitter
- BAAT p.Val255Gly Uncertain significance Single submitter
- BAAT p.Val9Met Uncertain significance Single submitter
Predictors split 51
The independent predictors disagree with each other — read with care.
-
BAAT p.Glu54Lys
Uncertain significance
Multiple submitters
BAAT-related disorder
-
BAAT p.Gly41Arg
Uncertain significance
Multiple submitters
BAAT-related disorder
- BAAT p.Leu153Phe Uncertain significance Multiple submitters
- BAAT p.Met76Thr Uncertain significance Multiple submitters
- BAAT p.Pro75Ser Uncertain significance Multiple submitters
- BAAT p.Pro84Ser Uncertain significance Multiple submitters
-
BAAT p.Thr254Met
Uncertain significance
Multiple submitters
bile acid conjugation defect 1
-
BAAT p.Val137Ile
Benign/Likely benign
Multiple submitters
hypercholanemia, familial 1
- BAAT p.Ala316Val Uncertain significance Single submitter
- BAAT p.Ala374Thr Uncertain significance Single submitter
- BAAT p.Ala52Gly Uncertain significance Single submitter
- BAAT p.Ala6Gly Uncertain significance Single submitter
-
BAAT p.Ala6Val
Uncertain significance
Single submitter
hypercholanemia, familial 1
- BAAT p.Arg146Cys Uncertain significance Single submitter
- BAAT p.Arg146His Uncertain significance Single submitter
- BAAT p.Arg148Gln Uncertain significance Single submitter
- BAAT p.Arg148Gly Uncertain significance Single submitter
- BAAT p.Arg177Gln Uncertain significance Single submitter
- BAAT p.Arg177Trp Uncertain significance Single submitter
- BAAT p.Asn288Ile Uncertain significance Single submitter
- BAAT p.Asn53Ser Uncertain significance Single submitter
- BAAT p.Asp379His Uncertain significance Single submitter
- BAAT p.Cys235Arg Uncertain significance Single submitter
- BAAT p.Glu157Gln Uncertain significance Single submitter
-
BAAT p.Gly158Val
Uncertain significance
Single submitter
hypercholanemia, familial 1
- BAAT p.Gly171Ser Uncertain significance Single submitter
- BAAT p.Gly185Cys Uncertain significance Single submitter
- BAAT p.Gly318Glu Uncertain significance Single submitter
- BAAT p.His397Tyr Uncertain significance Single submitter
- BAAT p.His409Leu Uncertain significance Single submitter
- BAAT p.Ile364Val Uncertain significance Single submitter
- BAAT p.Ile402Asn Uncertain significance Single submitter
- BAAT p.Leu180Phe Uncertain significance Single submitter
- BAAT p.Leu218Phe Uncertain significance Single submitter
- BAAT p.Leu344Met Uncertain significance Single submitter
- BAAT p.Leu92Trp Uncertain significance Single submitter
- BAAT p.Phe167Leu Uncertain significance Single submitter
- BAAT p.Phe217Leu Uncertain significance Single submitter
- BAAT p.Pro135Ala Uncertain significance Single submitter
- BAAT p.Pro222Gln Uncertain significance Single submitter
- BAAT p.Pro75Thr Uncertain significance Single submitter
-
BAAT p.Pro8Ala
Uncertain significance
Single submitter
hypercholanemia, familial 1
-
BAAT p.Ser233Pro
Uncertain significance
Single submitter
bile acid conjugation defect 1
-
BAAT p.Ser333Gly
Conflicting
Single submitter
hypercholanemia, familial 1
- BAAT p.Thr138Ala Uncertain significance Single submitter
- BAAT p.Trp131Cys Uncertain significance Single submitter
- BAAT p.Trp352Ser Uncertain significance Single submitter
- BAAT p.Tyr368Cys Uncertain significance Single submitter
- BAAT p.Val142Ala Uncertain significance Single submitter
- BAAT p.Val414Met Likely benign Single submitter
-
BAAT p.Asp69Val
Pathogenic
No assertion criteria
bile acid conjugation defect 1
All BAAT variants
Pathogenic 5
- p.Arg20Ter No assertion criteria bile acid conjugation defect 1
- p.Asp69Val No assertion criteria bile acid conjugation defect 1 ⚠
- p.Gly386Arg No assertion criteria bile acid conjugation defect 1
- p.Met76Val No assertion criteria bile acid conjugation defect 1 ⚠
- p.Pro84Thr No assertion criteria bile acid conjugation defect 1 ⚠
Likely pathogenic 1
- p.Asn195fs No assertion criteria BAAT-related disorder
Conflicting classifications of pathogenicity 8
- p.Gln3= Single submitter
- p.His391= Single submitter
- p.Ile266Thr Single submitter ⚠
- p.Phe55= Single submitter
- p.Ser333Gly Single submitter hypercholanemia, familial 1 ⚠
- p.Thr254= Single submitter
- p.Thr376Met Single submitter ⚠
- p.Val229Ile Single submitter bile acid conjugation defect 1 ⚠
Benign 24
- c.669+110G>T Multiple submitters
- c.669+64G>A Multiple submitters
- c.*1029A>T Multiple submitters hypercholanemia, familial 1
- c.*1090A>G Multiple submitters hypercholanemia, familial 1
- c.*1458G>A Multiple submitters hypercholanemia, familial 1
- c.*1475G>A Multiple submitters hypercholanemia, familial 1
- c.*160T>C Multiple submitters hypercholanemia, familial 1
- c.*1886T>C Multiple submitters hypercholanemia, familial 1
- c.*312A>G Multiple submitters hypercholanemia, familial 1
- c.*46G>A Multiple submitters hypercholanemia, familial 1
- c.*589C>T Multiple submitters hypercholanemia, familial 1
- c.*611G>A Multiple submitters hypercholanemia, familial 1
- c.*948C>A Multiple submitters hypercholanemia, familial 1
- p.Arg201Pro Multiple submitters hypercholanemia, familial 1
- p.Arg20Gln Multiple submitters bile acid conjugation defect 1
- p.His378= Multiple submitters hypercholanemia, familial 1
- p.Lys117Arg Multiple submitters hypercholanemia, familial 1
- p.Val304Ala Multiple submitters hypercholanemia, familial 1
- c.-116G>A Single submitter hypercholanemia, familial 1
- c.*1041A>C Single submitter hypercholanemia, familial 1
- c.*1884G>A Single submitter hypercholanemia, familial 1
- c.*1998T>C Single submitter hypercholanemia, familial 1
- c.*895C>T Single submitter hypercholanemia, familial 1
- c.*955A>G Single submitter hypercholanemia, familial 1
Benign/Likely benign 4
- p.Arg201His Multiple submitters
- p.Gln317= Multiple submitters hypercholanemia, familial 1
- p.Ser281= Multiple submitters hypercholanemia, familial 1
- p.Val137Ile Multiple submitters hypercholanemia, familial 1 ⚠
Likely benign 26
- c.669+16T>A Single submitter
- c.*1085C>G Single submitter hypercholanemia, familial 1
- c.*1617C>T Single submitter hypercholanemia, familial 1
- c.*1701G>C Single submitter hypercholanemia, familial 1
- c.*1824C>T Single submitter hypercholanemia, familial 1
- c.*459G>A Single submitter hypercholanemia, familial 1
- c.*624T>C Single submitter hypercholanemia, familial 1
- p.Ala119Thr Single submitter
- p.Ala182= Single submitter
- p.Ala48= Single submitter
- p.Asn40= Single submitter
- p.Glu396= Single submitter
- p.Gly237= Single submitter
- p.Ile246Val Single submitter
- p.Leu110Ser Single submitter
- p.Leu248= Single submitter
- p.Leu418= Single submitter
- p.Thr353= Single submitter
- p.Tyr368= Single submitter
- p.Val414Met Single submitter ⚠
- p.Ala253= No assertion criteria BAAT-related disorder
- p.Gly185= No assertion criteria BAAT-related disorder
- p.Leu87= No assertion criteria BAAT-related disorder
- p.Pro154= No assertion criteria BAAT-related disorder
- p.Ser188= No assertion criteria BAAT-related disorder
- p.Val224= No assertion criteria BAAT-related disorder
Uncertain significance 132
- c.*1597C>A Multiple submitters hypercholanemia, familial 1
- p.Ala337Thr Multiple submitters ⚠
- p.Arg130Ser Multiple submitters hypercholanemia, familial 1 ⚠
- p.Asp42Glu Multiple submitters hypercholanemia, familial 1 ⚠
- p.Glu54Lys Multiple submitters BAAT-related disorder ⚠
- p.Gly41Arg Multiple submitters BAAT-related disorder ⚠
- p.His74Tyr Multiple submitters ⚠
- p.Leu153Phe Multiple submitters ⚠
- p.Leu284Ter Multiple submitters bile acid conjugation defect 1
- p.Leu60= Multiple submitters hypercholanemia, familial 1
- p.Met1Lys Multiple submitters bile acid conjugation defect 1
- p.Met76Thr Multiple submitters ⚠
- p.Pro75Ser Multiple submitters ⚠
- p.Pro84Ser Multiple submitters ⚠
- p.Thr254Met Multiple submitters bile acid conjugation defect 1 ⚠
- p.Val114Glu Multiple submitters ⚠
- c.-176C>T Single submitter hypercholanemia, familial 1
- c.-183T>A Single submitter hypercholanemia, familial 1
- c.-208C>T Single submitter hypercholanemia, familial 1
- c.-209C>T Single submitter hypercholanemia, familial 1
- c.-59-14C>A Single submitter hypercholanemia, familial 1
- c.-6A>T Single submitter
- c.-92C>T Single submitter hypercholanemia, familial 1
- c.*1030T>A Single submitter hypercholanemia, familial 1
- c.*1041A>G Single submitter hypercholanemia, familial 1
- c.*1130A>G Single submitter hypercholanemia, familial 1
- c.*1136A>G Single submitter hypercholanemia, familial 1
- c.*1139T>G Single submitter hypercholanemia, familial 1
- c.*1218A>G Single submitter hypercholanemia, familial 1
- c.*1307T>A Single submitter hypercholanemia, familial 1
- c.*1341A>G Single submitter hypercholanemia, familial 1
- c.*1422A>G Single submitter hypercholanemia, familial 1
- c.*1528C>A Single submitter hypercholanemia, familial 1
- c.*1557C>A Single submitter hypercholanemia, familial 1
- c.*1575T>G Single submitter hypercholanemia, familial 1
- c.*1712G>C Single submitter hypercholanemia, familial 1
- c.*1828C>T Single submitter hypercholanemia, familial 1
- c.*1864G>T Single submitter hypercholanemia, familial 1
- c.*1890C>A Single submitter hypercholanemia, familial 1
- c.*199A>T Single submitter hypercholanemia, familial 1
- c.*224A>T Single submitter hypercholanemia, familial 1
- c.*365T>C Single submitter hypercholanemia, familial 1
- c.*426A>G Single submitter hypercholanemia, familial 1
- c.*538T>C Single submitter hypercholanemia, familial 1
- c.*573G>T Single submitter hypercholanemia, familial 1
- c.*660G>T Single submitter hypercholanemia, familial 1
- c.*668A>G Single submitter hypercholanemia, familial 1
- c.*831A>G Single submitter hypercholanemia, familial 1
- c.*936T>C Single submitter hypercholanemia, familial 1
- c.*95C>T Single submitter hypercholanemia, familial 1
- p.Ala187= Single submitter hypercholanemia, familial 1
- p.Ala306Gly Single submitter ⚠
- p.Ala316Val Single submitter ⚠
- p.Ala34= Single submitter
- p.Ala374Thr Single submitter ⚠
- p.Ala52Gly Single submitter ⚠
- p.Ala6Gly Single submitter ⚠
- p.Ala6Val Single submitter hypercholanemia, familial 1 ⚠
- p.Arg143Gln Single submitter ⚠
- p.Arg146Cys Single submitter ⚠
- p.Arg146His Single submitter ⚠
- p.Arg148Gln Single submitter ⚠
- p.Arg148Gly Single submitter ⚠
- p.Arg177Gln Single submitter ⚠
- p.Arg177Trp Single submitter ⚠
- p.Arg184His Single submitter ⚠
- p.Arg201Cys Single submitter BAAT-related disorder ⚠
- p.Arg20Lys Single submitter
- p.Asn261Ser Single submitter ⚠
- p.Asn288Ile Single submitter ⚠
- p.Asn53Ser Single submitter ⚠
- p.Asp379Asn Single submitter hypercholanemia, familial 1 ⚠
- p.Asp379His Single submitter ⚠
- p.Asp95Glu Single submitter ⚠
- p.Cys235Arg Single submitter ⚠
- p.Cys373Tyr Single submitter ⚠
- p.Gln102Leu Single submitter ⚠
- p.Glu111Gln Single submitter ⚠
- p.Glu157Gln Single submitter ⚠
- p.Gly158Val Single submitter hypercholanemia, familial 1 ⚠
- p.Gly171Ser Single submitter ⚠
- p.Gly185Cys Single submitter ⚠
- p.Gly228= Single submitter
- p.Gly318Glu Single submitter ⚠
- p.His18Arg Single submitter ⚠
- p.His336= Single submitter
- p.His347Tyr Single submitter hypercholanemia, familial 1 ⚠
- p.His397Tyr Single submitter ⚠
- p.His409Leu Single submitter ⚠
- p.His49= Single submitter hypercholanemia, familial 1
- p.Ile331Thr Single submitter ⚠
- p.Ile364Val Single submitter ⚠
- p.Ile402Asn Single submitter ⚠
- p.Leu151Arg Single submitter ⚠
- p.Leu180Phe Single submitter ⚠
- p.Leu218Phe Single submitter ⚠
- p.Leu290fs Single submitter
- p.Leu290Met Single submitter ⚠
- p.Leu344Met Single submitter ⚠
- p.Leu88= Single submitter hypercholanemia, familial 1
- p.Leu92Trp Single submitter ⚠
- p.Met43Val Single submitter ⚠
- p.Met71Leu Single submitter ⚠
- p.Phe167Leu Single submitter ⚠
- p.Phe186= Single submitter hypercholanemia, familial 1
- p.Phe217Leu Single submitter ⚠
- p.Phe55Leu Single submitter ⚠
- p.Pro135Ala Single submitter ⚠
- p.Pro222Gln Single submitter ⚠
- p.Pro75Thr Single submitter ⚠
- p.Pro8Ala Single submitter hypercholanemia, familial 1 ⚠
- p.Ser10= Single submitter
- p.Ser233Pro Single submitter bile acid conjugation defect 1 ⚠
- p.Ser46Pro Single submitter ⚠
- p.Thr138Ala Single submitter ⚠
- p.Thr206Lys Single submitter ⚠
- p.Thr260= Single submitter hypercholanemia, familial 1
- p.Thr298Ala Single submitter ⚠
- p.Thr301= Single submitter
- p.Thr376Ala Single submitter ⚠
- p.Thr5= Single submitter
- p.Trp131Cys Single submitter ⚠
- p.Trp352Ser Single submitter ⚠
- p.Trp352Ter Single submitter
- p.Tyr108Cys Single submitter ⚠
- p.Tyr368Cys Single submitter ⚠
- p.Tyr45Cys Single submitter ⚠
- p.Val142Ala Single submitter ⚠
- p.Val142Ile Single submitter ⚠
- p.Val255Gly Single submitter ⚠
- p.Val9Met Single submitter ⚠
- p.Phe152fs No assertion criteria BAAT-related disorder