TOMM40 — 37 ClinVar variants
All ClinVar germline TOMM40 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Benign · 2 Likely benign · 34 Uncertain significance
Full TOMM40 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TOMM40 p.Ala230Val Uncertain significance Single submitter
- TOMM40 p.Ala65Pro Uncertain significance Single submitter
- TOMM40 p.Ala65Ser Uncertain significance Single submitter
- TOMM40 p.Ala68Val Uncertain significance Single submitter
- TOMM40 p.Asn128Ser Uncertain significance Single submitter
- TOMM40 p.Asn321Ser Uncertain significance Single submitter
- TOMM40 p.Cys228Ser Uncertain significance Single submitter
- TOMM40 p.Cys76Tyr Uncertain significance Single submitter
- TOMM40 p.Gln281Lys Uncertain significance Single submitter
- TOMM40 p.Gly137Glu Uncertain significance Single submitter
- TOMM40 p.Gly302Arg Uncertain significance Single submitter
- TOMM40 p.Gly67Arg Uncertain significance Single submitter
- TOMM40 p.Gly75Val Uncertain significance Single submitter
- TOMM40 p.Gly81Arg Uncertain significance Single submitter
- TOMM40 p.Ile124Val Uncertain significance Single submitter
- TOMM40 p.Ile96Asn Uncertain significance Single submitter
- TOMM40 p.Leu103Phe Uncertain significance Single submitter
- TOMM40 p.Leu250Val Uncertain significance Single submitter
- TOMM40 p.Met270Leu Uncertain significance Single submitter
- TOMM40 p.Pro170Ser Uncertain significance Single submitter
- TOMM40 p.Ser291Arg Uncertain significance Single submitter
- TOMM40 p.Thr144Ala Uncertain significance Single submitter
- TOMM40 p.Thr204Ile Uncertain significance Single submitter
- TOMM40 p.Thr327Met Uncertain significance Single submitter
- TOMM40 p.Val203Ile Uncertain significance Single submitter
- TOMM40 p.Val210Ile Uncertain significance Single submitter
- TOMM40 p.Val212Met Uncertain significance Single submitter
- TOMM40 p.Val218Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- TOMM40 p.Ala146Val Uncertain significance Single submitter
- TOMM40 p.Asp191Tyr Uncertain significance Single submitter
- TOMM40 p.Gly125Arg Uncertain significance Single submitter
- TOMM40 p.Ile323Asn Uncertain significance Single submitter
- TOMM40 p.Ser122Asn Uncertain significance Single submitter
- TOMM40 p.Ser320Asn Uncertain significance Single submitter
All TOMM40 variants
Benign 1
- p.Ala219= Multiple submitters
Likely benign 2
- p.Glu92Asp Single submitter
- p.Leu282= Single submitter
Uncertain significance 34
- p.Ala146Val Single submitter ⚠
- p.Ala230Val Single submitter ⚠
- p.Ala65Pro Single submitter ⚠
- p.Ala65Ser Single submitter ⚠
- p.Ala68Val Single submitter ⚠
- p.Asn128Ser Single submitter ⚠
- p.Asn321Ser Single submitter ⚠
- p.Asp191Tyr Single submitter ⚠
- p.Cys228Ser Single submitter ⚠
- p.Cys76Tyr Single submitter ⚠
- p.Gln281Lys Single submitter ⚠
- p.Gly125Arg Single submitter ⚠
- p.Gly137Glu Single submitter ⚠
- p.Gly302Arg Single submitter ⚠
- p.Gly67Arg Single submitter ⚠
- p.Gly75Val Single submitter ⚠
- p.Gly81Arg Single submitter ⚠
- p.Ile124Val Single submitter ⚠
- p.Ile323Asn Single submitter ⚠
- p.Ile96Asn Single submitter ⚠
- p.Leu103Phe Single submitter ⚠
- p.Leu250Val Single submitter ⚠
- p.Met270Leu Single submitter ⚠
- p.Pro170Ser Single submitter ⚠
- p.Ser122Asn Single submitter ⚠
- p.Ser291Arg Single submitter ⚠
- p.Ser320Asn Single submitter ⚠
- p.Thr144Ala Single submitter ⚠
- p.Thr204Ile Single submitter ⚠
- p.Thr327Met Single submitter ⚠
- p.Val203Ile Single submitter ⚠
- p.Val210Ile Single submitter ⚠
- p.Val212Met Single submitter ⚠
- p.Val218Ile Single submitter ⚠