BTBD9 — 75 ClinVar variants
All ClinVar germline BTBD9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
1 Benign · 2 Likely benign · 72 Uncertain significance
Full BTBD9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTBD9 p.Ala100Val Uncertain significance Single submitter
- BTBD9 p.Ala28Thr Uncertain significance Single submitter
- BTBD9 p.Ala590Val Uncertain significance Single submitter
- BTBD9 p.Arg257Gly Uncertain significance Single submitter
- BTBD9 p.Arg336Gly Uncertain significance Single submitter
- BTBD9 p.Arg342Gln Uncertain significance Single submitter
- BTBD9 p.Arg382His Uncertain significance Single submitter
- BTBD9 p.Arg537Cys Uncertain significance Single submitter
- BTBD9 p.Arg605Cys Uncertain significance Single submitter
- BTBD9 p.Arg609Gln Uncertain significance Single submitter
- BTBD9 p.Arg99Trp Uncertain significance Single submitter
- BTBD9 p.Asp166Tyr Uncertain significance Single submitter
- BTBD9 p.Asp493Asn Uncertain significance Single submitter
- BTBD9 p.Asp493Glu Uncertain significance Single submitter
- BTBD9 p.Cys162Phe Uncertain significance Single submitter
- BTBD9 p.Gln563Arg Uncertain significance Single submitter
- BTBD9 p.Gln563Leu Uncertain significance Single submitter
- BTBD9 p.Gln581Arg Uncertain significance Single submitter
- BTBD9 p.Glu15Gly Uncertain significance Single submitter
- BTBD9 p.Glu199Lys Uncertain significance Single submitter
- BTBD9 p.Glu352Val Uncertain significance Single submitter
- BTBD9 p.Glu425Ala Uncertain significance Single submitter
- BTBD9 p.Glu558Lys Uncertain significance Single submitter
- BTBD9 p.Glu75Gly Uncertain significance Single submitter
- BTBD9 p.Gly572Val Uncertain significance Single submitter
- BTBD9 p.Ile26Thr Uncertain significance Single submitter
- BTBD9 p.Ile351Thr Uncertain significance Single submitter
- BTBD9 p.Ile430Val Uncertain significance Single submitter
- BTBD9 p.Leu157Ile Uncertain significance Single submitter
- BTBD9 p.Leu157Ser Uncertain significance Single submitter
- BTBD9 p.Leu227Ser Uncertain significance Single submitter
- BTBD9 p.Leu245Arg Uncertain significance Single submitter
- BTBD9 p.Lys215Glu Uncertain significance Single submitter
- BTBD9 p.Lys412Gln Uncertain significance Single submitter
- BTBD9 p.Lys418Arg Uncertain significance Single submitter
- BTBD9 p.Lys564Glu Uncertain significance Single submitter
- BTBD9 p.Pro6Leu Uncertain significance Single submitter
- BTBD9 p.Ser483Leu Uncertain significance Single submitter
- BTBD9 p.Thr541Ala Uncertain significance Single submitter
- BTBD9 p.Trp360Arg Uncertain significance Single submitter
- BTBD9 p.Val353Ala Uncertain significance Single submitter
- BTBD9 p.Val363Ala Uncertain significance Single submitter
- BTBD9 p.Val473Ile Uncertain significance Single submitter
- BTBD9 p.Val500Ile Uncertain significance Single submitter
- BTBD9 p.Val526Ile Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- BTBD9 p.Ala476Thr Uncertain significance Single submitter
- BTBD9 p.Ala76Val Uncertain significance Single submitter
- BTBD9 p.Arg319His Uncertain significance Single submitter
- BTBD9 p.Arg388Gln Uncertain significance Single submitter
- BTBD9 p.Arg46His Uncertain significance Single submitter
- BTBD9 p.Arg609Trp Uncertain significance Single submitter
- BTBD9 p.Arg99Gln Uncertain significance Single submitter
- BTBD9 p.Asp306Glu Uncertain significance Single submitter
- BTBD9 p.Gln81Arg Uncertain significance Single submitter
- BTBD9 p.Glu171Lys Uncertain significance Single submitter
- BTBD9 p.Gly321Ser Uncertain significance Single submitter
- BTBD9 p.Ile335Met Uncertain significance Single submitter
- BTBD9 p.Ile95Val Uncertain significance Single submitter
- BTBD9 p.Lys106Glu Uncertain significance Single submitter
- BTBD9 p.Met355Val Uncertain significance Single submitter
- BTBD9 p.Met511Thr Uncertain significance Single submitter
- BTBD9 p.Met511Val Uncertain significance Single submitter
- BTBD9 p.Pro532Arg Uncertain significance Single submitter
- BTBD9 p.Ser599Gly Uncertain significance Single submitter
- BTBD9 p.Ser602Cys Uncertain significance Single submitter
- BTBD9 p.Thr101Met Uncertain significance Single submitter
- BTBD9 p.Thr84Ile Uncertain significance Single submitter
- BTBD9 p.Val38Ile Uncertain significance Single submitter
- BTBD9 p.Val390Phe Uncertain significance Single submitter
- BTBD9 p.Val41Met Uncertain significance Single submitter
- BTBD9 p.Val512Ala Uncertain significance Single submitter
- BTBD9 p.Val539Ile Uncertain significance Single submitter
All BTBD9 variants
Benign 1
- p.Val239= Single submitter
Uncertain significance 72
- p.Ala100Val Single submitter ⚠
- p.Ala28Thr Single submitter ⚠
- p.Ala476Thr Single submitter ⚠
- p.Ala590Val Single submitter ⚠
- p.Ala76Val Single submitter ⚠
- p.Arg257Gly Single submitter ⚠
- p.Arg319His Single submitter ⚠
- p.Arg336Gly Single submitter ⚠
- p.Arg342Gln Single submitter ⚠
- p.Arg382His Single submitter ⚠
- p.Arg388Gln Single submitter ⚠
- p.Arg46His Single submitter ⚠
- p.Arg537Cys Single submitter ⚠
- p.Arg605Cys Single submitter ⚠
- p.Arg609Gln Single submitter ⚠
- p.Arg609Trp Single submitter ⚠
- p.Arg99Gln Single submitter ⚠
- p.Arg99Trp Single submitter ⚠
- p.Asp166Tyr Single submitter ⚠
- p.Asp306Glu Single submitter ⚠
- p.Asp493Asn Single submitter ⚠
- p.Asp493Glu Single submitter ⚠
- p.Cys162Phe Single submitter ⚠
- p.Gln563Arg Single submitter ⚠
- p.Gln563Leu Single submitter ⚠
- p.Gln581Arg Single submitter ⚠
- p.Gln81Arg Single submitter ⚠
- p.Glu15Gly Single submitter ⚠
- p.Glu171Lys Single submitter ⚠
- p.Glu199Lys Single submitter ⚠
- p.Glu352Val Single submitter ⚠
- p.Glu425Ala Single submitter ⚠
- p.Glu558Lys Single submitter ⚠
- p.Glu75Gly Single submitter ⚠
- p.Gly321Ser Single submitter ⚠
- p.Gly572Val Single submitter ⚠
- p.Ile26Thr Single submitter ⚠
- p.Ile335Met Single submitter ⚠
- p.Ile351Thr Single submitter ⚠
- p.Ile430Val Single submitter ⚠
- p.Ile95Val Single submitter ⚠
- p.Leu157Ile Single submitter ⚠
- p.Leu157Ser Single submitter ⚠
- p.Leu227Ser Single submitter ⚠
- p.Leu245Arg Single submitter ⚠
- p.Lys106Glu Single submitter ⚠
- p.Lys215Glu Single submitter ⚠
- p.Lys412Gln Single submitter ⚠
- p.Lys418Arg Single submitter ⚠
- p.Lys564Glu Single submitter ⚠
- p.Met355Val Single submitter ⚠
- p.Met511Thr Single submitter ⚠
- p.Met511Val Single submitter ⚠
- p.Pro532Arg Single submitter ⚠
- p.Pro6Leu Single submitter ⚠
- p.Ser483Leu Single submitter ⚠
- p.Ser599Gly Single submitter ⚠
- p.Ser602Cys Single submitter ⚠
- p.Thr101Met Single submitter ⚠
- p.Thr541Ala Single submitter ⚠
- p.Thr84Ile Single submitter ⚠
- p.Trp360Arg Single submitter ⚠
- p.Val353Ala Single submitter ⚠
- p.Val363Ala Single submitter ⚠
- p.Val38Ile Single submitter ⚠
- p.Val390Phe Single submitter ⚠
- p.Val41Met Single submitter ⚠
- p.Val473Ile Single submitter ⚠
- p.Val500Ile Single submitter ⚠
- p.Val512Ala Single submitter ⚠
- p.Val526Ile Single submitter ⚠
- p.Val539Ile Single submitter ⚠