BTBD10 — 38 ClinVar variants
All ClinVar germline BTBD10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
38 Uncertain significance
Full BTBD10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTBD10 p.Arg306Trp Uncertain significance Single submitter
- BTBD10 p.Asp174Val Uncertain significance Single submitter
- BTBD10 p.Asp45Gly Uncertain significance Single submitter
- BTBD10 p.Gln328Arg Uncertain significance Single submitter
- BTBD10 p.His32Asn Uncertain significance Single submitter
- BTBD10 p.His58Arg Uncertain significance Single submitter
- BTBD10 p.His97Arg Uncertain significance Single submitter
- BTBD10 p.Ile124Val Uncertain significance Single submitter
- BTBD10 p.Ile163Lys Uncertain significance Single submitter
- BTBD10 p.Ile245Val Uncertain significance Single submitter
- BTBD10 p.Lys117Arg Uncertain significance Single submitter
- BTBD10 p.Lys157Arg Uncertain significance Single submitter
- BTBD10 p.Met192Val Uncertain significance Single submitter
- BTBD10 p.Pro120Arg Uncertain significance Single submitter
- BTBD10 p.Pro459Ser Uncertain significance Single submitter
- BTBD10 p.Pro5Leu Uncertain significance Single submitter
- BTBD10 p.Ser130Arg Uncertain significance Single submitter
- BTBD10 p.Ser303Asn Uncertain significance Single submitter
- BTBD10 p.Thr170Ile Uncertain significance Single submitter
- BTBD10 p.Thr446Ala Uncertain significance Single submitter
- BTBD10 p.Thr94Arg Uncertain significance Single submitter
- BTBD10 p.Tyr338Cys Uncertain significance Single submitter
- BTBD10 p.Tyr8Asp Uncertain significance Single submitter
- BTBD10 p.Tyr8Cys Uncertain significance Single submitter
- BTBD10 p.Val396Gly Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- BTBD10 p.Arg114Cys Uncertain significance Single submitter
- BTBD10 p.Arg20Trp Uncertain significance Single submitter
- BTBD10 p.Arg238Cys Uncertain significance Single submitter
- BTBD10 p.Arg238His Uncertain significance Single submitter
- BTBD10 p.Arg4Trp Uncertain significance Single submitter
- BTBD10 p.Arg65Gln Uncertain significance Single submitter
- BTBD10 p.Arg72Gln Uncertain significance Single submitter
- BTBD10 p.Gly242Asp Uncertain significance Single submitter
- BTBD10 p.Ile236Met Uncertain significance Single submitter
- BTBD10 p.Ser12Cys Uncertain significance Single submitter
- BTBD10 p.Ser134Thr Uncertain significance Single submitter
- BTBD10 p.Thr165Met Uncertain significance Single submitter
- BTBD10 p.Thr79Met Uncertain significance Single submitter
All BTBD10 variants
Uncertain significance 38
- p.Arg114Cys Single submitter ⚠
- p.Arg20Trp Single submitter ⚠
- p.Arg238Cys Single submitter ⚠
- p.Arg238His Single submitter ⚠
- p.Arg306Trp Single submitter ⚠
- p.Arg4Trp Single submitter ⚠
- p.Arg65Gln Single submitter ⚠
- p.Arg72Gln Single submitter ⚠
- p.Asp174Val Single submitter ⚠
- p.Asp45Gly Single submitter ⚠
- p.Gln328Arg Single submitter ⚠
- p.Gly242Asp Single submitter ⚠
- p.His32Asn Single submitter ⚠
- p.His58Arg Single submitter ⚠
- p.His97Arg Single submitter ⚠
- p.Ile124Val Single submitter ⚠
- p.Ile163Lys Single submitter ⚠
- p.Ile236Met Single submitter ⚠
- p.Ile245Val Single submitter ⚠
- p.Lys117Arg Single submitter ⚠
- p.Lys157Arg Single submitter ⚠
- p.Met192Val Single submitter ⚠
- p.Pro120Arg Single submitter ⚠
- p.Pro459Ser Single submitter ⚠
- p.Pro5Leu Single submitter ⚠
- p.Ser12Cys Single submitter ⚠
- p.Ser130Arg Single submitter ⚠
- p.Ser134Thr Single submitter ⚠
- p.Ser303Asn Single submitter ⚠
- p.Thr165Met Single submitter ⚠
- p.Thr170Ile Single submitter ⚠
- p.Thr446Ala Single submitter ⚠
- p.Thr79Met Single submitter ⚠
- p.Thr94Arg Single submitter ⚠
- p.Tyr338Cys Single submitter ⚠
- p.Tyr8Asp Single submitter ⚠
- p.Tyr8Cys Single submitter ⚠
- p.Val396Gly Single submitter ⚠