MAFG — 15 ClinVar variants
All ClinVar germline MAFG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
1 Likely benign · 14 Uncertain significance
Full MAFG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MAFG p.Ala135Thr Uncertain significance Single submitter
- MAFG p.Arg130Gln Uncertain significance Single submitter
- MAFG p.Arg161Pro Uncertain significance Single submitter
- MAFG p.Arg69Cys Uncertain significance Single submitter
- MAFG p.Asp159His Uncertain significance Single submitter
- MAFG p.Gly136Ser Uncertain significance Single submitter
- MAFG p.Leu140Phe Uncertain significance Single submitter
- MAFG p.Ser109Ala Uncertain significance Single submitter
- MAFG p.Ser124Asn Uncertain significance Single submitter
- MAFG p.Ser162Leu Uncertain significance Single submitter
- MAFG p.Val141Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All MAFG variants
Likely benign 1
- p.Tyr111= Single submitter
Uncertain significance 14
- p.Ala135Thr Single submitter ⚠
- p.Arg119Trp Single submitter hereditary breast ovarian cancer syndrome
- p.Arg123Gly Single submitter ⚠
- p.Arg130Gln Single submitter ⚠
- p.Arg161Pro Single submitter ⚠
- p.Arg69Cys Single submitter ⚠
- p.Asp159His Single submitter ⚠
- p.Gly136Ser Single submitter ⚠
- p.Leu140Phe Single submitter ⚠
- p.Met100Ile Single submitter ⚠
- p.Ser109Ala Single submitter ⚠
- p.Ser124Asn Single submitter ⚠
- p.Ser162Leu Single submitter ⚠
- p.Val141Ile Single submitter ⚠