BTBD1 — 46 ClinVar variants
All ClinVar germline BTBD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
1 Likely benign · 45 Uncertain significance
Full BTBD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTBD1 p.Ala16Gly Uncertain significance Single submitter
- BTBD1 p.Ala23Pro Uncertain significance Single submitter
- BTBD1 p.Arg236Gln Uncertain significance Single submitter
- BTBD1 p.Arg236Gly Uncertain significance Single submitter
- BTBD1 p.Arg79Ser Uncertain significance Single submitter
- BTBD1 p.Cys400Ser Uncertain significance Single submitter
- BTBD1 p.Glu118Lys Uncertain significance Single submitter
- BTBD1 p.Glu19Gly Uncertain significance Single submitter
- BTBD1 p.Glu251Ala Uncertain significance Single submitter
- BTBD1 p.Gly397Cys Uncertain significance Single submitter
- BTBD1 p.His371Tyr Uncertain significance Single submitter
- BTBD1 p.His435Arg Uncertain significance Single submitter
- BTBD1 p.Ile219Thr Uncertain significance Single submitter
- BTBD1 p.Ile370Phe Uncertain significance Single submitter
- BTBD1 p.Leu391Pro Uncertain significance Single submitter
- BTBD1 p.Lys264Glu Uncertain significance Single submitter
- BTBD1 p.Lys430Gln Uncertain significance Single submitter
- BTBD1 p.Phe216Leu Uncertain significance Single submitter
- BTBD1 p.Phe457Ser Uncertain significance Single submitter
- BTBD1 p.Pro278Gln Uncertain significance Single submitter
- BTBD1 p.Val301Gly Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- BTBD1 p.Ala162Gly Uncertain significance Single submitter
- BTBD1 p.Ala162Val Uncertain significance Single submitter
- BTBD1 p.Ala82Val Uncertain significance Single submitter
- BTBD1 p.Ala84Val Uncertain significance Single submitter
- BTBD1 p.Ala8Thr Uncertain significance Single submitter
- BTBD1 p.Arg246Cys Uncertain significance Single submitter
- BTBD1 p.Arg298Cys Uncertain significance Single submitter
- BTBD1 p.Arg320Gln Uncertain significance Single submitter
- BTBD1 p.Asn394Ser Uncertain significance Single submitter
- BTBD1 p.Asp139Glu Uncertain significance Single submitter
- BTBD1 p.Gln255Arg Uncertain significance Single submitter
- BTBD1 p.Glu17Val Uncertain significance Single submitter
- BTBD1 p.Glu229Ala Uncertain significance Single submitter
- BTBD1 p.Gly293Glu Uncertain significance Single submitter
- BTBD1 p.Ile282Met Uncertain significance Single submitter
- BTBD1 p.Ile318Leu Uncertain significance Single submitter
- BTBD1 p.Ile415Met Uncertain significance Single submitter
- BTBD1 p.Lys453Thr Uncertain significance Single submitter
- BTBD1 p.Pro20Leu Uncertain significance Single submitter
- BTBD1 p.Pro87Leu Uncertain significance Single submitter
- BTBD1 p.Ser345Arg Uncertain significance Single submitter
- BTBD1 p.Tyr367Phe Uncertain significance Single submitter
- BTBD1 p.Val301Leu Uncertain significance Single submitter
- BTBD1 p.Val315Ala Uncertain significance Single submitter
All BTBD1 variants
Likely benign 1
- p.Ser14Pro Single submitter
Uncertain significance 45
- p.Ala162Gly Single submitter ⚠
- p.Ala162Val Single submitter ⚠
- p.Ala16Gly Single submitter ⚠
- p.Ala23Pro Single submitter ⚠
- p.Ala82Val Single submitter ⚠
- p.Ala84Val Single submitter ⚠
- p.Ala8Thr Single submitter ⚠
- p.Arg236Gln Single submitter ⚠
- p.Arg236Gly Single submitter ⚠
- p.Arg246Cys Single submitter ⚠
- p.Arg298Cys Single submitter ⚠
- p.Arg320Gln Single submitter ⚠
- p.Arg79Ser Single submitter ⚠
- p.Asn394Ser Single submitter ⚠
- p.Asp139Glu Single submitter ⚠
- p.Cys400Ser Single submitter ⚠
- p.Gln255Arg Single submitter ⚠
- p.Glu118Lys Single submitter ⚠
- p.Glu17Val Single submitter ⚠
- p.Glu19Gly Single submitter ⚠
- p.Glu229Ala Single submitter ⚠
- p.Glu251Ala Single submitter ⚠
- p.Gly293Glu Single submitter ⚠
- p.Gly397Cys Single submitter ⚠
- p.His371Tyr Single submitter ⚠
- p.His435Arg Single submitter ⚠
- p.Ile219Thr Single submitter ⚠
- p.Ile282Met Single submitter ⚠
- p.Ile318Leu Single submitter ⚠
- p.Ile370Phe Single submitter ⚠
- p.Ile415Met Single submitter ⚠
- p.Leu391Pro Single submitter ⚠
- p.Lys264Glu Single submitter ⚠
- p.Lys430Gln Single submitter ⚠
- p.Lys453Thr Single submitter ⚠
- p.Phe216Leu Single submitter ⚠
- p.Phe457Ser Single submitter ⚠
- p.Pro20Leu Single submitter ⚠
- p.Pro278Gln Single submitter ⚠
- p.Pro87Leu Single submitter ⚠
- p.Ser345Arg Single submitter ⚠
- p.Tyr367Phe Single submitter ⚠
- p.Val301Gly Single submitter ⚠
- p.Val301Leu Single submitter ⚠
- p.Val315Ala Single submitter ⚠