TMEM120A — 53 ClinVar variants
All ClinVar germline TMEM120A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
2 Likely benign · 51 Uncertain significance
Full TMEM120A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TMEM120A p.Ala250Thr Uncertain significance Single submitter
- TMEM120A p.Ala80Thr Uncertain significance Single submitter
- TMEM120A p.Ala99Gly Uncertain significance Single submitter
- TMEM120A p.Arg178Gln Uncertain significance Single submitter
- TMEM120A p.Arg247Cys Uncertain significance Single submitter
- TMEM120A p.Arg249Gln Uncertain significance Single submitter
- TMEM120A p.Arg270Trp Uncertain significance Single submitter
- TMEM120A p.Arg337Gln Uncertain significance Single submitter
- TMEM120A p.Arg34Cys Uncertain significance Single submitter
- TMEM120A p.Arg90Cys Uncertain significance Single submitter
- TMEM120A p.Asn185Lys Uncertain significance Single submitter
- TMEM120A p.Cys68Trp Uncertain significance Single submitter
- TMEM120A p.Gln301His Uncertain significance Single submitter
- TMEM120A p.Gln336Arg Uncertain significance Single submitter
- TMEM120A p.Gln54Glu Uncertain significance Single submitter
- TMEM120A p.Glu132Lys Uncertain significance Single submitter
- TMEM120A p.Gly243Ser Uncertain significance Single submitter
- TMEM120A p.Gly311Ser Uncertain significance Single submitter
- TMEM120A p.Gly339Arg Uncertain significance Single submitter
- TMEM120A p.His330Arg Uncertain significance Single submitter
- TMEM120A p.Ile142Val Uncertain significance Single submitter
- TMEM120A p.Leu308Ile Uncertain significance Single submitter
- TMEM120A p.Lys332Met Uncertain significance Single submitter
- TMEM120A p.Met215Val Uncertain significance Single submitter
- TMEM120A p.Met268Leu Uncertain significance Single submitter
- TMEM120A p.Phe149Cys Uncertain significance Single submitter
- TMEM120A p.Pro70Ser Uncertain significance Single submitter
- TMEM120A p.Pro73Ser Uncertain significance Single submitter
- TMEM120A p.Ser204Leu Uncertain significance Single submitter
- TMEM120A p.Ser71Phe Uncertain significance Single submitter
- TMEM120A p.Thr176Ala Uncertain significance Single submitter
- TMEM120A p.Thr209Met Uncertain significance Single submitter
- TMEM120A p.Thr52Met Uncertain significance Single submitter
- TMEM120A p.Val328Asp Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- TMEM120A p.Arg152Cys Uncertain significance Single submitter
- TMEM120A p.Asn117Ser Uncertain significance Single submitter
- TMEM120A p.Asp131Glu Uncertain significance Single submitter
- TMEM120A p.Cys47Tyr Uncertain significance Single submitter
- TMEM120A p.Glu28Gly Uncertain significance Single submitter
- TMEM120A p.Gly213Ser Uncertain significance Single submitter
- TMEM120A p.His30Arg Uncertain significance Single submitter
- TMEM120A p.Met257Val Uncertain significance Single submitter
- TMEM120A p.Met309Ile Uncertain significance Single submitter
- TMEM120A p.Ser242Arg Uncertain significance Single submitter
All TMEM120A variants
Likely benign 2
- p.Ala290= Single submitter
- p.Arg57Gln Single submitter
Uncertain significance 51
- p.Ala250Thr Single submitter ⚠
- p.Ala80Thr Single submitter ⚠
- p.Ala99Gly Single submitter ⚠
- p.Arg152Cys Single submitter ⚠
- p.Arg178Gln Single submitter ⚠
- p.Arg247Cys Single submitter ⚠
- p.Arg249Gln Single submitter ⚠
- p.Arg270Trp Single submitter ⚠
- p.Arg337Gln Single submitter ⚠
- p.Arg34Cys Single submitter ⚠
- p.Arg90Cys Single submitter ⚠
- p.Asn117Ser Single submitter ⚠
- p.Asn185Lys Single submitter ⚠
- p.Asp131Glu Single submitter ⚠
- p.Cys47Tyr Single submitter ⚠
- p.Cys68Trp Single submitter ⚠
- p.Gln301His Single submitter ⚠
- p.Gln336Arg Single submitter ⚠
- p.Gln54Glu Single submitter ⚠
- p.Glu132Lys Single submitter ⚠
- p.Glu28Gly Single submitter ⚠
- p.Gly213Ser Single submitter ⚠
- p.Gly243Ser Single submitter ⚠
- p.Gly311Ser Single submitter ⚠
- p.Gly339Arg Single submitter ⚠
- p.His30Arg Single submitter ⚠
- p.His330Arg Single submitter ⚠
- p.Ile142Val Single submitter ⚠
- p.Ile183Leu Single submitter
- p.Leu111Val Single submitter
- p.Leu308Ile Single submitter ⚠
- p.Lys303Asn Single submitter
- p.Lys332Met Single submitter ⚠
- p.Met215Val Single submitter ⚠
- p.Met257Val Single submitter ⚠
- p.Met268Leu Single submitter ⚠
- p.Met309Ile Single submitter ⚠
- p.Phe149Cys Single submitter ⚠
- p.Phe281Ser Single submitter
- p.Pro70Ser Single submitter ⚠
- p.Pro73Ser Single submitter ⚠
- p.Ser204Leu Single submitter ⚠
- p.Ser242Arg Single submitter ⚠
- p.Ser49Arg Single submitter
- p.Ser71Phe Single submitter ⚠
- p.Thr119Met Single submitter
- p.Thr176Ala Single submitter ⚠
- p.Thr209Met Single submitter ⚠
- p.Thr52Met Single submitter ⚠
- p.Val159Met Single submitter
- p.Val328Asp Single submitter ⚠