AFM — 101 ClinVar variants
All ClinVar germline AFM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →
3 Likely benign · 98 Uncertain significance
Full AFM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 99
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 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AFM p.Ala241Val Uncertain significance Single submitter
- AFM p.Ala352Glu Uncertain significance Single submitter
- AFM p.Ala397Val Uncertain significance Single submitter
- AFM p.Ala439Pro Uncertain significance Single submitter
- AFM p.Ala469Ser Uncertain significance Single submitter
- AFM p.Ala469Thr Uncertain significance Single submitter
- AFM p.Arg279Ser Uncertain significance Single submitter
- AFM p.Arg434Ser Uncertain significance Single submitter
- AFM p.Asn170Lys Uncertain significance Single submitter
- AFM p.Asn200Thr Uncertain significance Single submitter
- AFM p.Asn286Lys Uncertain significance Single submitter
- AFM p.Asn33Lys Uncertain significance Single submitter
- AFM p.Asn502Asp Uncertain significance Single submitter
- AFM p.Asn92Thr Uncertain significance Single submitter
- AFM p.Asp267Gly Uncertain significance Single submitter
- AFM p.Asp267Tyr Uncertain significance Single submitter
- AFM p.Asp399Asn Uncertain significance Single submitter
- AFM p.Asp563Glu Uncertain significance Single submitter
- AFM p.Asp69Tyr Uncertain significance Single submitter
- AFM p.Asp80Asn Uncertain significance Single submitter
- AFM p.Cys124Tyr Uncertain significance Single submitter
- AFM p.Cys192Tyr Uncertain significance Single submitter
- AFM p.Cys193Trp Uncertain significance Single submitter
- AFM p.Cys269Tyr Uncertain significance Single submitter
- AFM p.Cys462Tyr Uncertain significance Single submitter
- AFM p.Cys77Arg Uncertain significance Single submitter
- AFM p.Cys86Phe Uncertain significance Single submitter
- AFM p.Gln211Arg Uncertain significance Single submitter
- AFM p.Gln211Lys Uncertain significance Single submitter
- AFM p.Gln36Lys Uncertain significance Single submitter
- AFM p.Gln526Glu Uncertain significance Single submitter
- AFM p.Gln567Arg Uncertain significance Single submitter
- AFM p.Gly331Glu Uncertain significance Single submitter
- AFM p.Ile373Val Uncertain significance Single submitter
- AFM p.Leu258Pro Uncertain significance Single submitter
- AFM p.Leu89Phe Uncertain significance Single submitter
- AFM p.Lys221Asn Uncertain significance Single submitter
- AFM p.Lys74Glu Uncertain significance Single submitter
- AFM p.Met454Val Uncertain significance Single submitter
- AFM p.Met535Val Uncertain significance Single submitter
- AFM p.Met78Thr Uncertain significance Single submitter
- AFM p.Met78Val Uncertain significance Single submitter
- AFM p.Phe11Leu Uncertain significance Single submitter
- AFM p.Phe230Tyr Uncertain significance Single submitter
- AFM p.Pro138Ser Uncertain significance Single submitter
- AFM p.Pro493Ser Uncertain significance Single submitter
- AFM p.Ser336Asn Uncertain significance Single submitter
- AFM p.Val117Asp Uncertain significance Single submitter
- AFM p.Val173Asp Uncertain significance Single submitter
- AFM p.Val181Ile Uncertain significance Single submitter
- AFM p.Val275Glu Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
- AFM p.Ala100Val Uncertain significance Single submitter
- AFM p.Ala150Pro Uncertain significance Single submitter
- AFM p.Ala352Val Uncertain significance Single submitter
- AFM p.Ala397Thr Uncertain significance Single submitter
- AFM p.Ala58Pro Uncertain significance Single submitter
- AFM p.Arg155Thr Uncertain significance Single submitter
- AFM p.Arg279Cys Uncertain significance Single submitter
- AFM p.Arg27Trp Uncertain significance Single submitter
- AFM p.Arg310His Uncertain significance Single submitter
- AFM p.Arg360Gly Uncertain significance Single submitter
- AFM p.Arg395Cys Uncertain significance Single submitter
- AFM p.Asn33Asp Uncertain significance Single submitter
- AFM p.Asn553Ile Uncertain significance Single submitter
- AFM p.Asp344Val Uncertain significance Single submitter
- AFM p.Cys580Gly Uncertain significance Single submitter
- AFM p.Cys581Tyr Uncertain significance Single submitter
- AFM p.Gln120His Uncertain significance Single submitter
- AFM p.Gln196Arg Uncertain significance Single submitter
- AFM p.Gln53Arg Uncertain significance Single submitter
- AFM p.Gln95Arg Uncertain significance Single submitter
- AFM p.Glu357Gly Uncertain significance Single submitter
- AFM p.Glu403Gly Uncertain significance Single submitter
- AFM p.Glu452Lys Likely benign Single submitter
- AFM p.Gly103Glu Uncertain significance Single submitter
- AFM p.Gly598Asp Uncertain significance Single submitter
- AFM p.Ile250Phe Uncertain significance Single submitter
- AFM p.Ile367Met Uncertain significance Single submitter
- AFM p.Leu464Pro Uncertain significance Single submitter
- AFM p.Leu513Trp Uncertain significance Single submitter
- AFM p.Lys107Met Uncertain significance Single submitter
- AFM p.Lys249Arg Uncertain significance Single submitter
- AFM p.Lys68Thr Uncertain significance Single submitter
- AFM p.Phe139Ser Uncertain significance Single submitter
- AFM p.Phe333Leu Uncertain significance Single submitter
- AFM p.Phe356Leu Uncertain significance Single submitter
- AFM p.Phe505Leu Uncertain significance Single submitter
- AFM p.Phe573Leu Uncertain significance Single submitter
- AFM p.Pro137Ser Uncertain significance Single submitter
- AFM p.Pro493Arg Uncertain significance Single submitter
- AFM p.Ser19Pro Uncertain significance Single submitter
- AFM p.Ser568Cys Uncertain significance Single submitter
- AFM p.Thr456Ile Uncertain significance Single submitter
- AFM p.Thr82Met Uncertain significance Single submitter
- AFM p.Tyr164His Uncertain significance Single submitter
- AFM p.Tyr358Cys Uncertain significance Single submitter
- AFM p.Val455Leu Uncertain significance Single submitter
- AFM p.Val478Gly Uncertain significance Single submitter
- AFM p.Val555Leu Uncertain significance Single submitter
All AFM variants
Likely benign 3
- p.Gln341Glu Single submitter
- p.Glu452Lys Single submitter ⚠
- p.Lys233Gln Single submitter
Uncertain significance 98
- p.Ala100Val Single submitter ⚠
- p.Ala150Pro Single submitter ⚠
- p.Ala241Val Single submitter ⚠
- p.Ala352Glu Single submitter ⚠
- p.Ala352Val Single submitter ⚠
- p.Ala397Thr Single submitter ⚠
- p.Ala397Val Single submitter ⚠
- p.Ala439Pro Single submitter ⚠
- p.Ala469Ser Single submitter ⚠
- p.Ala469Thr Single submitter ⚠
- p.Ala58Pro Single submitter ⚠
- p.Arg155Thr Single submitter ⚠
- p.Arg279Cys Single submitter ⚠
- p.Arg279Ser Single submitter ⚠
- p.Arg27Trp Single submitter ⚠
- p.Arg310His Single submitter ⚠
- p.Arg360Gly Single submitter ⚠
- p.Arg395Cys Single submitter ⚠
- p.Arg434Ser Single submitter ⚠
- p.Asn170Lys Single submitter ⚠
- p.Asn200Thr Single submitter ⚠
- p.Asn286Lys Single submitter ⚠
- p.Asn33Asp Single submitter ⚠
- p.Asn33Lys Single submitter ⚠
- p.Asn502Asp Single submitter ⚠
- p.Asn553Ile Single submitter ⚠
- p.Asn92Thr Single submitter ⚠
- p.Asp267Gly Single submitter ⚠
- p.Asp267Tyr Single submitter ⚠
- p.Asp344Val Single submitter ⚠
- p.Asp399Asn Single submitter ⚠
- p.Asp563Glu Single submitter ⚠
- p.Asp69Tyr Single submitter ⚠
- p.Asp80Asn Single submitter ⚠
- p.Cys124Tyr Single submitter ⚠
- p.Cys192Tyr Single submitter ⚠
- p.Cys193Trp Single submitter ⚠
- p.Cys269Tyr Single submitter ⚠
- p.Cys462Tyr Single submitter ⚠
- p.Cys580Gly Single submitter ⚠
- p.Cys581Tyr Single submitter ⚠
- p.Cys77Arg Single submitter ⚠
- p.Cys86Phe Single submitter ⚠
- p.Gln120His Single submitter ⚠
- p.Gln196Arg Single submitter ⚠
- p.Gln211Arg Single submitter ⚠
- p.Gln211Lys Single submitter ⚠
- p.Gln36Lys Single submitter ⚠
- p.Gln526Glu Single submitter ⚠
- p.Gln53Arg Single submitter ⚠
- p.Gln567Arg Single submitter ⚠
- p.Gln95Arg Single submitter ⚠
- p.Glu357Gly Single submitter ⚠
- p.Glu403Gly Single submitter ⚠
- p.Gly103Glu Single submitter ⚠
- p.Gly331Glu Single submitter ⚠
- p.Gly598Asp Single submitter ⚠
- p.Ile250Phe Single submitter ⚠
- p.Ile367Met Single submitter ⚠
- p.Ile373Val Single submitter ⚠
- p.Leu258Pro Single submitter ⚠
- p.Leu464Pro Single submitter ⚠
- p.Leu513Trp Single submitter ⚠
- p.Leu89Phe Single submitter ⚠
- p.Lys107Met Single submitter ⚠
- p.Lys221Asn Single submitter ⚠
- p.Lys249Arg Single submitter ⚠
- p.Lys68Thr Single submitter ⚠
- p.Lys74Glu Single submitter ⚠
- p.Met454Val Single submitter ⚠
- p.Met535Val Single submitter ⚠
- p.Met78Thr Single submitter ⚠
- p.Met78Val Single submitter ⚠
- p.Phe11Leu Single submitter ⚠
- p.Phe139Ser Single submitter ⚠
- p.Phe230Tyr Single submitter ⚠
- p.Phe333Leu Single submitter ⚠
- p.Phe356Leu Single submitter ⚠
- p.Phe505Leu Single submitter ⚠
- p.Phe573Leu Single submitter ⚠
- p.Pro137Ser Single submitter ⚠
- p.Pro138Ser Single submitter ⚠
- p.Pro493Arg Single submitter ⚠
- p.Pro493Ser Single submitter ⚠
- p.Ser19Pro Single submitter ⚠
- p.Ser336Asn Single submitter ⚠
- p.Ser568Cys Single submitter ⚠
- p.Thr456Ile Single submitter ⚠
- p.Thr82Met Single submitter ⚠
- p.Tyr164His Single submitter ⚠
- p.Tyr358Cys Single submitter ⚠
- p.Val117Asp Single submitter ⚠
- p.Val173Asp Single submitter ⚠
- p.Val181Ile Single submitter ⚠
- p.Val275Glu Single submitter ⚠
- p.Val455Leu Single submitter ⚠
- p.Val478Gly Single submitter ⚠
- p.Val555Leu Single submitter ⚠