BTBD3 — 45 ClinVar variants
All ClinVar germline BTBD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Benign · 44 Uncertain significance
Full BTBD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTBD3 p.Ala176Thr Uncertain significance Single submitter
- BTBD3 p.Ala189Thr Uncertain significance Single submitter
- BTBD3 p.Ala303Val Uncertain significance Single submitter
- BTBD3 p.Ala73Asp Uncertain significance Single submitter
- BTBD3 p.Ala96Val Uncertain significance Single submitter
- BTBD3 p.Arg374Leu Uncertain significance Single submitter
- BTBD3 p.Arg377Cys Uncertain significance Single submitter
- BTBD3 p.Asn116Ser Uncertain significance Single submitter
- BTBD3 p.Asn214Lys Uncertain significance Single submitter
- BTBD3 p.Asn332Ser Uncertain significance Single submitter
- BTBD3 p.Asn74Thr Uncertain significance Single submitter
- BTBD3 p.Asn8Ser Uncertain significance Single submitter
- BTBD3 p.Asn91Asp Uncertain significance Single submitter
- BTBD3 p.Asp117Gly Uncertain significance Single submitter
- BTBD3 p.Asp328Asn Uncertain significance Single submitter
- BTBD3 p.Gln82Arg Uncertain significance Single submitter
- BTBD3 p.Gln85Lys Uncertain significance Single submitter
- BTBD3 p.Glu185Asp Uncertain significance Single submitter
- BTBD3 p.Gly131Glu Uncertain significance Single submitter
- BTBD3 p.Ile181Ser Uncertain significance Single submitter
- BTBD3 p.Ile204Leu Uncertain significance Single submitter
- BTBD3 p.Ile320Val Uncertain significance Single submitter
- BTBD3 p.Ile66Thr Uncertain significance Single submitter
- BTBD3 p.Leu304Ser Uncertain significance Single submitter
- BTBD3 p.Lys23Arg Uncertain significance Single submitter
- BTBD3 p.Lys441Glu Uncertain significance Single submitter
- BTBD3 p.Lys56Glu Uncertain significance Single submitter
- BTBD3 p.Lys5Arg Uncertain significance Single submitter
- BTBD3 p.Met177Val Uncertain significance Single submitter
- BTBD3 p.Pro95Leu Uncertain significance Single submitter
- BTBD3 p.Pro95Ser Uncertain significance Single submitter
- BTBD3 p.Pro97Ala Uncertain significance Single submitter
- BTBD3 p.Pro97Leu Uncertain significance Single submitter
- BTBD3 p.Ser89Gly Uncertain significance Single submitter
- BTBD3 p.Thr21Met Uncertain significance Single submitter
- BTBD3 p.Thr465Ile Uncertain significance Single submitter
- BTBD3 p.Thr495Ser Uncertain significance Single submitter
- BTBD3 p.Val433Ala Uncertain significance Single submitter
- BTBD3 p.Val433Ile Uncertain significance Single submitter
- BTBD3 p.Val80Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All BTBD3 variants
Benign 1
- p.Ala303= Multiple submitters
Uncertain significance 44
- p.Ala176Thr Single submitter ⚠
- p.Ala189Thr Single submitter ⚠
- p.Ala200Ser Single submitter
- p.Ala303Val Single submitter ⚠
- p.Ala73Asp Single submitter ⚠
- p.Ala96Val Single submitter ⚠
- p.Arg374Leu Single submitter ⚠
- p.Arg377Cys Single submitter ⚠
- p.Asn116Ser Single submitter ⚠
- p.Asn214Lys Single submitter ⚠
- p.Asn332Ser Single submitter ⚠
- p.Asn74Thr Single submitter ⚠
- p.Asn8Ser Single submitter ⚠
- p.Asn91Asp Single submitter ⚠
- p.Asp117Gly Single submitter ⚠
- p.Asp121Asn Single submitter ⚠
- p.Asp328Asn Single submitter ⚠
- p.Gln82Arg Single submitter ⚠
- p.Gln85Lys Single submitter ⚠
- p.Glu185Asp Single submitter ⚠
- p.Gly131Glu Single submitter ⚠
- p.Ile181Ser Single submitter ⚠
- p.Ile204Leu Single submitter ⚠
- p.Ile320Val Single submitter ⚠
- p.Ile66Arg Single submitter
- p.Ile66Thr Single submitter ⚠
- p.Leu304Ser Single submitter ⚠
- p.Lys23Arg Single submitter ⚠
- p.Lys441Glu Single submitter ⚠
- p.Lys56Glu Single submitter ⚠
- p.Lys5Arg Single submitter ⚠
- p.Met177Val Single submitter ⚠
- p.Pro19Ser Single submitter ⚠
- p.Pro95Leu Single submitter ⚠
- p.Pro95Ser Single submitter ⚠
- p.Pro97Ala Single submitter ⚠
- p.Pro97Leu Single submitter ⚠
- p.Ser89Gly Single submitter ⚠
- p.Thr21Met Single submitter ⚠
- p.Thr465Ile Single submitter ⚠
- p.Thr495Ser Single submitter ⚠
- p.Val433Ala Single submitter ⚠
- p.Val433Ile Single submitter ⚠
- p.Val80Ile Single submitter ⚠