BTC — 44 ClinVar variants
All ClinVar germline BTC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
1 Benign · 4 Likely benign · 39 Uncertain significance
Full BTC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTC p.Ala5Val Uncertain significance Single submitter
- BTC p.Arg106Lys Uncertain significance Single submitter
- BTC p.Arg146Trp Uncertain significance Single submitter
- BTC p.Arg37Ile Uncertain significance Single submitter
- BTC p.Arg6Gly Uncertain significance Single submitter
- BTC p.Asn42Ser Uncertain significance Single submitter
- BTC p.Asp2His Uncertain significance Single submitter
- BTC p.Asp48Glu Uncertain significance Single submitter
- BTC p.Asp96Glu Uncertain significance Single submitter
- BTC p.Cys104Arg Uncertain significance Single submitter
- BTC p.Cys104Trp Uncertain significance Single submitter
- BTC p.Cys141Arg Uncertain significance Single submitter
- BTC p.Gln118Arg Uncertain significance Single submitter
- BTC p.Glu155Lys Uncertain significance Single submitter
- BTC p.Gly114Arg Uncertain significance Single submitter
- BTC p.Gly137Ser Uncertain significance Single submitter
- BTC p.Gly22Ala Uncertain significance Single submitter
- BTC p.Gly9Ser Uncertain significance Single submitter
- BTC p.Ile125Leu Uncertain significance Single submitter
- BTC p.Ile133Thr Uncertain significance Single submitter
- BTC p.Ile172Val Uncertain significance Single submitter
- BTC p.Ile25Asn Uncertain significance Single submitter
- BTC p.Lys163Glu Uncertain significance Single submitter
- BTC p.Met158Ile Uncertain significance Single submitter
- BTC p.Ser8Gly Uncertain significance Single submitter
- BTC p.Thr160Ala Uncertain significance Single submitter
- BTC p.Val138Phe Uncertain significance Single submitter
- BTC p.Val30Ala Uncertain significance Single submitter
- BTC p.Val85Met Uncertain significance Single submitter
- BTC p.Val86Ala Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- BTC p.Arg148Cys Uncertain significance Single submitter
- BTC p.Arg6Trp Uncertain significance Single submitter
- BTC p.Cys142Trp Uncertain significance Single submitter
- BTC p.Ile100Phe Uncertain significance Single submitter
- BTC p.Ile100Val Uncertain significance Single submitter
- BTC p.Leu134Phe Uncertain significance Single submitter
- BTC p.Leu16Phe Uncertain significance Single submitter
- BTC p.Lys152Glu Uncertain significance Single submitter
- BTC p.Phe110Leu Uncertain significance Single submitter
All BTC variants
Benign 1
- p.Leu44Phe Multiple submitters
Likely benign 4
- p.Arg3Pro Single submitter
- p.Ile136Val Single submitter
- p.Lys63Arg Single submitter
- p.Val94= Single submitter
Uncertain significance 39
- p.Ala5Val Single submitter ⚠
- p.Arg106Lys Single submitter ⚠
- p.Arg146Trp Single submitter ⚠
- p.Arg148Cys Single submitter ⚠
- p.Arg37Ile Single submitter ⚠
- p.Arg6Gly Single submitter ⚠
- p.Arg6Trp Single submitter ⚠
- p.Asn42Ser Single submitter ⚠
- p.Asp2His Single submitter ⚠
- p.Asp48Glu Single submitter ⚠
- p.Asp96Glu Single submitter ⚠
- p.Cys104Arg Single submitter ⚠
- p.Cys104Trp Single submitter ⚠
- p.Cys141Arg Single submitter ⚠
- p.Cys142Trp Single submitter ⚠
- p.Gln118Arg Single submitter ⚠
- p.Glu155Lys Single submitter ⚠
- p.Gly114Arg Single submitter ⚠
- p.Gly137Ser Single submitter ⚠
- p.Gly22Ala Single submitter ⚠
- p.Gly9Ser Single submitter ⚠
- p.Ile100Phe Single submitter ⚠
- p.Ile100Val Single submitter ⚠
- p.Ile125Leu Single submitter ⚠
- p.Ile133Thr Single submitter ⚠
- p.Ile172Val Single submitter ⚠
- p.Ile25Asn Single submitter ⚠
- p.Leu134Phe Single submitter ⚠
- p.Leu16Phe Single submitter ⚠
- p.Lys152Glu Single submitter ⚠
- p.Lys163Glu Single submitter ⚠
- p.Met158Ile Single submitter ⚠
- p.Phe110Leu Single submitter ⚠
- p.Ser8Gly Single submitter ⚠
- p.Thr160Ala Single submitter ⚠
- p.Val138Phe Single submitter ⚠
- p.Val30Ala Single submitter ⚠
- p.Val85Met Single submitter ⚠
- p.Val86Ala Single submitter ⚠