TMBIM6 — 43 ClinVar variants
All ClinVar germline TMBIM6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Benign · 1 Likely benign · 41 Uncertain significance
Full TMBIM6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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.
- TMBIM6 p.Ala56Ser Uncertain significance Single submitter
- TMBIM6 p.Arg6Gln Uncertain significance Single submitter
- TMBIM6 p.Arg84Ser Uncertain significance Single submitter
- TMBIM6 p.Cys127Ser Uncertain significance Single submitter
- TMBIM6 p.Cys37Phe Uncertain significance Single submitter
- TMBIM6 p.Cys37Trp Uncertain significance Single submitter
- TMBIM6 p.Gly100Val Uncertain significance Single submitter
- TMBIM6 p.Gly63Ser Uncertain significance Single submitter
- TMBIM6 p.His48Arg Uncertain significance Single submitter
- TMBIM6 p.Ile107Val Uncertain significance Single submitter
- TMBIM6 p.Ile19Val Uncertain significance Single submitter
- TMBIM6 p.Ile54Phe Uncertain significance Single submitter
- TMBIM6 p.Leu151Pro Uncertain significance Single submitter
- TMBIM6 p.Lys195Thr Uncertain significance Single submitter
- TMBIM6 p.Lys29Asn Uncertain significance Single submitter
- TMBIM6 p.Met223Ile Uncertain significance Single submitter
- TMBIM6 p.Thr216Ile Uncertain significance Single submitter
- TMBIM6 p.Tyr46Cys Uncertain significance Single submitter
- TMBIM6 p.Tyr46Phe Uncertain significance Single submitter
- TMBIM6 p.Val185Ile Uncertain significance Single submitter
- TMBIM6 p.Val30Gly Uncertain significance Single submitter
- TMBIM6 p.Val30Phe Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- TMBIM6 p.Ala41Val Uncertain significance Single submitter
- TMBIM6 p.Cys106Arg Uncertain significance Single submitter
- TMBIM6 p.His18Leu Uncertain significance Single submitter
- TMBIM6 p.Trp70Cys Uncertain significance Single submitter
- TMBIM6 p.Tyr134Cys Uncertain significance Single submitter
- TMBIM6 p.Val180Phe Uncertain significance Single submitter
All TMBIM6 variants
Benign 1
- p.Ser22= Multiple submitters
Likely benign 1
- c.-31+634G>A Single submitter
Uncertain significance 41
- c.-18T>A Single submitter
- c.-31+574C>T Single submitter
- c.-31+579G>C Single submitter
- c.-31+611G>T Single submitter
- c.-31+614G>A Single submitter
- c.-31+623G>A Single submitter
- c.-31+641C>G Single submitter
- c.-31+648C>A Single submitter
- c.-31+655G>T Single submitter
- c.-31+668A>G Single submitter
- p.Ala41Val Single submitter ⚠
- p.Ala56Ser Single submitter ⚠
- p.Arg6Gln Single submitter ⚠
- p.Arg84Ser Single submitter ⚠
- p.Asp11Val Single submitter
- p.Cys106Arg Single submitter ⚠
- p.Cys127Ser Single submitter ⚠
- p.Cys37Phe Single submitter ⚠
- p.Cys37Trp Single submitter ⚠
- p.Gly100Val Single submitter ⚠
- p.Gly63Ser Single submitter ⚠
- p.His18Leu Single submitter ⚠
- p.His48Arg Single submitter ⚠
- p.Ile107Val Single submitter ⚠
- p.Ile19Val Single submitter ⚠
- p.Ile54Phe Single submitter ⚠
- p.Leu151Pro Single submitter ⚠
- p.Leu210Ile Single submitter
- p.Lys195Thr Single submitter ⚠
- p.Lys29Asn Single submitter ⚠
- p.Met223Ile Single submitter ⚠
- p.Thr216Ile Single submitter ⚠
- p.Thr23Met Single submitter
- p.Trp70Cys Single submitter ⚠
- p.Tyr134Cys Single submitter ⚠
- p.Tyr46Cys Single submitter ⚠
- p.Tyr46Phe Single submitter ⚠
- p.Val180Phe Single submitter ⚠
- p.Val185Ile Single submitter ⚠
- p.Val30Gly Single submitter ⚠
- p.Val30Phe Single submitter ⚠