BTBD8 — 34 ClinVar variants
All ClinVar germline BTBD8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
2 Benign · 3 Likely benign · 29 Uncertain significance
Full BTBD8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTBD8 p.Ala347Ser Uncertain significance Single submitter
- BTBD8 p.Ala356Thr Uncertain significance Single submitter
- BTBD8 p.Ala74Val Uncertain significance Single submitter
- BTBD8 p.Arg79Gly Uncertain significance Single submitter
- BTBD8 p.Asn181Ser Uncertain significance Single submitter
- BTBD8 p.Asp170His Uncertain significance Single submitter
- BTBD8 p.Asp182Val Uncertain significance Single submitter
- BTBD8 p.Asp209Asn Uncertain significance Single submitter
- BTBD8 p.Cys238Tyr Uncertain significance Single submitter
- BTBD8 p.Gln144Lys Uncertain significance Single submitter
- BTBD8 p.Glu6Gly Uncertain significance Single submitter
- BTBD8 p.Leu147Pro Uncertain significance Single submitter
- BTBD8 p.Leu147Val Uncertain significance Single submitter
- BTBD8 p.Leu235Pro Uncertain significance Single submitter
- BTBD8 p.Leu49Arg Uncertain significance Single submitter
- BTBD8 p.Phe151Cys Uncertain significance Single submitter
- BTBD8 p.Pro206Ser Uncertain significance Single submitter
- BTBD8 p.Pro272Ser Uncertain significance Single submitter
- BTBD8 p.Thr248Ser Uncertain significance Single submitter
- BTBD8 p.Thr275Ser Uncertain significance Single submitter
- BTBD8 p.Thr39Ala Uncertain significance Single submitter
- BTBD8 p.Val13Glu Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- BTBD8 p.Ile325Val Uncertain significance Single submitter
- BTBD8 p.Leu25Trp Uncertain significance Single submitter
- BTBD8 p.Leu367Arg Uncertain significance Single submitter
- BTBD8 p.Leu77Ser Uncertain significance Single submitter
- BTBD8 p.Met286Lys Uncertain significance Single submitter
- BTBD8 p.Ser225Asn Uncertain significance Single submitter
- BTBD8 p.Ser333Gly Uncertain significance Single submitter
All BTBD8 variants
Benign 2
- p.Asn1098Tyr Single submitter
- p.Lys817= Single submitter
Uncertain significance 29
- p.Ala347Ser Single submitter ⚠
- p.Ala356Thr Single submitter ⚠
- p.Ala74Val Single submitter ⚠
- p.Arg79Gly Single submitter ⚠
- p.Asn181Ser Single submitter ⚠
- p.Asp170His Single submitter ⚠
- p.Asp182Val Single submitter ⚠
- p.Asp209Asn Single submitter ⚠
- p.Cys238Tyr Single submitter ⚠
- p.Gln144Lys Single submitter ⚠
- p.Glu6Gly Single submitter ⚠
- p.Ile325Val Single submitter ⚠
- p.Leu147Pro Single submitter ⚠
- p.Leu147Val Single submitter ⚠
- p.Leu235Pro Single submitter ⚠
- p.Leu25Trp Single submitter ⚠
- p.Leu367Arg Single submitter ⚠
- p.Leu49Arg Single submitter ⚠
- p.Leu77Ser Single submitter ⚠
- p.Met286Lys Single submitter ⚠
- p.Phe151Cys Single submitter ⚠
- p.Pro206Ser Single submitter ⚠
- p.Pro272Ser Single submitter ⚠
- p.Ser225Asn Single submitter ⚠
- p.Ser333Gly Single submitter ⚠
- p.Thr248Ser Single submitter ⚠
- p.Thr275Ser Single submitter ⚠
- p.Thr39Ala Single submitter ⚠
- p.Val13Glu Single submitter ⚠