AFMID — 49 ClinVar variants
All ClinVar germline AFMID variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
8 Likely benign · 41 Uncertain significance
Full AFMID gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AFMID p.Arg238His Uncertain significance Single submitter
- AFMID p.Asp247Asn Uncertain significance Single submitter
- AFMID p.Asp247Val Uncertain significance Single submitter
- AFMID p.Gly127Ser Uncertain significance Single submitter
- AFMID p.Gly132Asp Uncertain significance Single submitter
- AFMID p.Gly166Arg Uncertain significance Single submitter
- AFMID p.His136Arg Uncertain significance Single submitter
- AFMID p.His279Gln Uncertain significance Single submitter
- AFMID p.His279Tyr Uncertain significance Single submitter
- AFMID p.Ile123Thr Uncertain significance Single submitter
- AFMID p.Ile282Val Uncertain significance Single submitter
- AFMID p.Ile78Val Uncertain significance Single submitter
- AFMID p.Met2Val Uncertain significance Single submitter
- AFMID p.Pro10Ser Uncertain significance Single submitter
- AFMID p.Ser11Thr Uncertain significance Single submitter
- AFMID p.Ser62Asn Uncertain significance Single submitter
- AFMID p.Ser84Leu Uncertain significance Single submitter
- AFMID p.Thr133Asn Uncertain significance Single submitter
- AFMID p.Tyr27His Uncertain significance Single submitter
- AFMID p.Val193Leu Uncertain significance Single submitter
- AFMID p.Val292Met Uncertain significance Single submitter
- AFMID p.Val33Ala Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- AFMID p.Ala41Asp Uncertain significance Single submitter
- AFMID p.Arg35Gln Uncertain significance Single submitter
- AFMID p.Asn291Lys Uncertain significance Single submitter
- AFMID p.Asp177Asn Likely benign Single submitter
- AFMID p.Asp247Glu Uncertain significance Single submitter
- AFMID p.Cys237Gly Uncertain significance Single submitter
- AFMID p.Gln140Lys Uncertain significance Single submitter
- AFMID p.Gln295Glu Uncertain significance Single submitter
- AFMID p.Glu86Lys Uncertain significance Single submitter
- AFMID p.Gly102Arg Uncertain significance Single submitter
- AFMID p.Ile301Val Uncertain significance Single submitter
- AFMID p.Leu174Phe Uncertain significance Single submitter
- AFMID p.Pro232Leu Uncertain significance Single submitter
- AFMID p.Thr179Ile Uncertain significance Single submitter
- AFMID p.Thr205Ala Uncertain significance Single submitter
- AFMID p.Tyr126Cys Uncertain significance Single submitter
- AFMID p.Tyr68Cys Uncertain significance Single submitter
- AFMID p.Val111Leu Uncertain significance Single submitter
- AFMID p.Val193Met Uncertain significance Single submitter
- AFMID p.Val203Met Likely benign Single submitter
- AFMID p.Val243Met Uncertain significance Single submitter
All AFMID variants
Likely benign 8
- p.Ala146Val Single submitter
- p.Arg151Gln Single submitter
- p.Asp177Asn Single submitter ⚠
- p.Glu266Gly Single submitter
- p.Ser206= Single submitter
- p.Thr287= Single submitter
- p.Val203Met Single submitter ⚠
- p.Val209Ile Single submitter
Uncertain significance 41
- p.Ala41Asp Single submitter ⚠
- p.Arg238His Single submitter ⚠
- p.Arg35Gln Single submitter ⚠
- p.Asn291Lys Single submitter ⚠
- p.Asp247Asn Single submitter ⚠
- p.Asp247Glu Single submitter ⚠
- p.Asp247Val Single submitter ⚠
- p.Cys237Gly Single submitter ⚠
- p.Gln140Lys Single submitter ⚠
- p.Gln295Glu Single submitter ⚠
- p.Glu86Lys Single submitter ⚠
- p.Gly102Arg Single submitter ⚠
- p.Gly127Ser Single submitter ⚠
- p.Gly132Asp Single submitter ⚠
- p.Gly166Arg Single submitter ⚠
- p.His136Arg Single submitter ⚠
- p.His279Gln Single submitter ⚠
- p.His279Tyr Single submitter ⚠
- p.Ile123Thr Single submitter ⚠
- p.Ile282Val Single submitter ⚠
- p.Ile301Val Single submitter ⚠
- p.Ile78Val Single submitter ⚠
- p.Leu174Phe Single submitter ⚠
- p.Met2Val Single submitter ⚠
- p.Pro10Ser Single submitter ⚠
- p.Pro232Leu Single submitter ⚠
- p.Ser11Thr Single submitter ⚠
- p.Ser62Asn Single submitter ⚠
- p.Ser84Leu Single submitter ⚠
- p.Thr133Asn Single submitter ⚠
- p.Thr179Ile Single submitter ⚠
- p.Thr205Ala Single submitter ⚠
- p.Tyr126Cys Single submitter ⚠
- p.Tyr27His Single submitter ⚠
- p.Tyr68Cys Single submitter ⚠
- p.Val111Leu Single submitter ⚠
- p.Val193Leu Single submitter ⚠
- p.Val193Met Single submitter ⚠
- p.Val243Met Single submitter ⚠
- p.Val292Met Single submitter ⚠
- p.Val33Ala Single submitter ⚠