TMEM80 — 44 ClinVar variants
All ClinVar germline TMEM80 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
1 Conflicting · 6 Likely benign · 37 Uncertain significance
Full TMEM80 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TMEM80 c.29C>T Uncertain significance Single submitter
- TMEM80 c.40C>G Uncertain significance Single submitter
- TMEM80 c.55C>G Uncertain significance Single submitter
- TMEM80 c.58G>A Uncertain significance Single submitter
- TMEM80 c.-8C>T Uncertain significance Single submitter
- TMEM80 c.-9G>A Uncertain significance Single submitter
- TMEM80 p.Ala118Thr Uncertain significance Single submitter
- TMEM80 p.Ala3Thr Uncertain significance Single submitter
- TMEM80 p.Ala90Thr Uncertain significance Single submitter
- TMEM80 p.Ala99Thr Uncertain significance Single submitter
- TMEM80 p.Arg53Gly Uncertain significance Single submitter
- TMEM80 p.Arg6Gln Uncertain significance Single submitter
- TMEM80 p.Asp58His Uncertain significance Single submitter
- TMEM80 p.Gly9Arg Uncertain significance Single submitter
- TMEM80 p.His52Pro Uncertain significance Single submitter
- TMEM80 p.Leu38Ile Uncertain significance Single submitter
- TMEM80 p.Met21Arg Uncertain significance Single submitter
- TMEM80 p.Val132Ile Uncertain significance Single submitter
- TMEM80 p.Val17Leu Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All TMEM80 variants
Likely benign 6
- p.Ala115Val Single submitter
- p.Ala3= Single submitter
- p.Arg53His Single submitter
- p.Gly27Glu Single submitter
- p.Leu174= Single submitter
- p.Ser26= Single submitter
Uncertain significance 37
- c.10G>A Single submitter
- c.29C>T Single submitter ⚠
- c.40C>G Single submitter ⚠
- c.55C>G Single submitter ⚠
- c.58G>A Single submitter ⚠
- c.-8C>T Single submitter ⚠
- c.-9G>A Single submitter ⚠
- p.Ala118Thr Single submitter ⚠
- p.Ala2Val Single submitter
- p.Ala36Thr Single submitter
- p.Ala3Pro Single submitter
- p.Ala3Thr Single submitter ⚠
- p.Ala90Thr Single submitter ⚠
- p.Ala99Thr Single submitter ⚠
- p.Arg53Cys Single submitter
- p.Arg53Gly Single submitter ⚠
- p.Arg5Trp Single submitter
- p.Arg6Gln Single submitter ⚠
- p.Asp58His Single submitter ⚠
- p.Gly9Arg Single submitter ⚠
- p.His52Pro Single submitter ⚠
- p.Leu100His Single submitter
- p.Leu38Ile Single submitter ⚠
- p.Leu68Val Single submitter
- p.Met21Arg Single submitter ⚠
- p.Met40Val Single submitter
- p.Pro18Arg Single submitter
- p.Pro51Ser Single submitter
- p.Pro87Leu Single submitter
- p.Ser49Arg Single submitter
- p.Thr122Met Single submitter
- p.Thr95Met Single submitter ⚠
- p.Trp108Arg Single submitter
- p.Trp114Gly Single submitter
- p.Tyr24Ser Single submitter
- p.Val132Ile Single submitter ⚠
- p.Val17Leu Single submitter ⚠