AFG1L — 74 ClinVar variants
All ClinVar germline AFG1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
1 Likely benign · 73 Uncertain significance
Full AFG1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
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 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AFG1L p.Ala305Thr Uncertain significance Single submitter
- AFG1L p.Ala60Pro Uncertain significance Single submitter
- AFG1L p.Arg160Trp Uncertain significance Single submitter
- AFG1L p.Arg176His Uncertain significance Single submitter
- AFG1L p.Arg246Ser Uncertain significance Single submitter
- AFG1L p.Arg284Gln Uncertain significance Single submitter
- AFG1L p.Arg325Ser Uncertain significance Single submitter
- AFG1L p.Arg332Thr Uncertain significance Single submitter
- AFG1L p.Arg388Gln Uncertain significance Single submitter
- AFG1L p.Arg403His Uncertain significance Single submitter
- AFG1L p.Arg463Gln Uncertain significance Single submitter
- AFG1L p.Asp147Ala Uncertain significance Single submitter
- AFG1L p.Asp147Tyr Uncertain significance Single submitter
- AFG1L p.Asp360Glu Uncertain significance Single submitter
- AFG1L p.Asp395Asn Uncertain significance Single submitter
- AFG1L p.Cys208Tyr Uncertain significance Single submitter
- AFG1L p.Cys26Trp Uncertain significance Single submitter
- AFG1L p.Cys272Phe Uncertain significance Single submitter
- AFG1L p.Gln16Arg Uncertain significance Single submitter
- AFG1L p.Gln316Arg Uncertain significance Single submitter
- AFG1L p.Glu363Asp Uncertain significance Single submitter
- AFG1L p.Glu424Asp Uncertain significance Single submitter
- AFG1L p.Glu54Lys Uncertain significance Single submitter
- AFG1L p.Gly139Asp Uncertain significance Single submitter
- AFG1L p.Gly21Arg Uncertain significance Single submitter
- AFG1L p.Gly237Arg Uncertain significance Single submitter
- AFG1L p.Gly292Glu Uncertain significance Single submitter
- AFG1L p.Gly331Cys Uncertain significance Single submitter
- AFG1L p.His418Arg Uncertain significance Single submitter
- AFG1L p.His73Arg Uncertain significance Single submitter
- AFG1L p.Ile203Thr Uncertain significance Single submitter
- AFG1L p.Leu229His Uncertain significance Single submitter
- AFG1L p.Leu336Arg Uncertain significance Single submitter
- AFG1L p.Lys253Arg Uncertain significance Single submitter
- AFG1L p.Lys328Gln Uncertain significance Single submitter
- AFG1L p.Met144Ile Uncertain significance Single submitter
- AFG1L p.Met56Lys Uncertain significance Single submitter
- AFG1L p.Phe234Leu Uncertain significance Single submitter
- AFG1L p.Pro13Leu Uncertain significance Single submitter
- AFG1L p.Pro195Leu Uncertain significance Single submitter
- AFG1L p.Pro198Arg Uncertain significance Single submitter
- AFG1L p.Pro377Leu Uncertain significance Single submitter
- AFG1L p.Pro40Arg Uncertain significance Single submitter
- AFG1L p.Ser279Phe Uncertain significance Single submitter
- AFG1L p.Ser414Asn Uncertain significance Single submitter
- AFG1L p.Ser438Gly Uncertain significance Single submitter
- AFG1L p.Ser446Phe Uncertain significance Single submitter
- AFG1L p.Ser55Asn Uncertain significance Single submitter
- AFG1L p.Thr465Met Uncertain significance Single submitter
- AFG1L p.Trp29Leu Uncertain significance Single submitter
- AFG1L p.Tyr133Cys Uncertain significance Single submitter
- AFG1L p.Tyr79Cys Uncertain significance Single submitter
- AFG1L p.Val145Ala Uncertain significance Single submitter
- AFG1L p.Val238Ala Uncertain significance Single submitter
- AFG1L p.Val329Ala Uncertain significance Single submitter
- AFG1L p.Val71Ile Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- AFG1L p.Ala2Val Uncertain significance Single submitter
- AFG1L p.Ala339Gly Uncertain significance Single submitter
- AFG1L p.Arg12Ser Uncertain significance Single submitter
- AFG1L p.Arg176Cys Uncertain significance Single submitter
- AFG1L p.Asp107Gly Uncertain significance Single submitter
- AFG1L p.Cys23Tyr Uncertain significance Single submitter
- AFG1L p.Gln386Glu Uncertain significance Single submitter
- AFG1L p.Leu8Val Uncertain significance Single submitter
- AFG1L p.Lys109Glu Uncertain significance Single submitter
- AFG1L p.Lys156Arg Uncertain significance Single submitter
- AFG1L p.Met307Ile Uncertain significance Single submitter
- AFG1L p.Phe379Val Uncertain significance Single submitter
- AFG1L p.Ser446Pro Uncertain significance Single submitter
- AFG1L p.Thr52Ile Uncertain significance Single submitter
- AFG1L p.Tyr48Cys Uncertain significance Single submitter
- AFG1L p.Val239Ile Uncertain significance Single submitter
- AFG1L p.Val240Leu Uncertain significance Single submitter
All AFG1L variants
Likely benign 1
- p.Met56Val Single submitter
Uncertain significance 73
- p.Ala2Val Single submitter ⚠
- p.Ala305Thr Single submitter ⚠
- p.Ala339Gly Single submitter ⚠
- p.Ala60Pro Single submitter ⚠
- p.Arg12Ser Single submitter ⚠
- p.Arg160Trp Single submitter ⚠
- p.Arg176Cys Single submitter ⚠
- p.Arg176His Single submitter ⚠
- p.Arg246Ser Single submitter ⚠
- p.Arg284Gln Single submitter ⚠
- p.Arg325Ser Single submitter ⚠
- p.Arg332Thr Single submitter ⚠
- p.Arg388Gln Single submitter ⚠
- p.Arg403His Single submitter ⚠
- p.Arg463Gln Single submitter ⚠
- p.Asp107Gly Single submitter ⚠
- p.Asp147Ala Single submitter ⚠
- p.Asp147Tyr Single submitter ⚠
- p.Asp360Glu Single submitter ⚠
- p.Asp395Asn Single submitter ⚠
- p.Cys208Tyr Single submitter ⚠
- p.Cys23Tyr Single submitter ⚠
- p.Cys26Trp Single submitter ⚠
- p.Cys272Phe Single submitter ⚠
- p.Gln16Arg Single submitter ⚠
- p.Gln316Arg Single submitter ⚠
- p.Gln386Glu Single submitter ⚠
- p.Glu363Asp Single submitter ⚠
- p.Glu424Asp Single submitter ⚠
- p.Glu54Lys Single submitter ⚠
- p.Gly139Asp Single submitter ⚠
- p.Gly21Arg Single submitter ⚠
- p.Gly237Arg Single submitter ⚠
- p.Gly292Glu Single submitter ⚠
- p.Gly331Cys Single submitter ⚠
- p.His418Arg Single submitter ⚠
- p.His73Arg Single submitter ⚠
- p.Ile203Thr Single submitter ⚠
- p.Leu229His Single submitter ⚠
- p.Leu336Arg Single submitter ⚠
- p.Leu8Val Single submitter ⚠
- p.Lys109Glu Single submitter ⚠
- p.Lys156Arg Single submitter ⚠
- p.Lys253Arg Single submitter ⚠
- p.Lys328Gln Single submitter ⚠
- p.Met144Ile Single submitter ⚠
- p.Met307Ile Single submitter ⚠
- p.Met56Lys Single submitter ⚠
- p.Phe234Leu Single submitter ⚠
- p.Phe379Val Single submitter ⚠
- p.Pro13Leu Single submitter ⚠
- p.Pro195Leu Single submitter ⚠
- p.Pro198Arg Single submitter ⚠
- p.Pro377Leu Single submitter ⚠
- p.Pro40Arg Single submitter ⚠
- p.Ser279Phe Single submitter ⚠
- p.Ser414Asn Single submitter ⚠
- p.Ser438Gly Single submitter ⚠
- p.Ser446Phe Single submitter ⚠
- p.Ser446Pro Single submitter ⚠
- p.Ser55Asn Single submitter ⚠
- p.Thr465Met Single submitter ⚠
- p.Thr52Ile Single submitter ⚠
- p.Trp29Leu Single submitter ⚠
- p.Tyr133Cys Single submitter ⚠
- p.Tyr48Cys Single submitter ⚠
- p.Tyr79Cys Single submitter ⚠
- p.Val145Ala Single submitter ⚠
- p.Val238Ala Single submitter ⚠
- p.Val239Ile Single submitter ⚠
- p.Val240Leu Single submitter ⚠
- p.Val329Ala Single submitter ⚠
- p.Val71Ile Single submitter ⚠