DFFA — 58 ClinVar variants
All ClinVar germline DFFA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
4 Benign · 7 Likely benign · 47 Uncertain significance
Full DFFA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DFFA p.Ala236Val Uncertain significance Single submitter
- DFFA p.Ala250Ser Uncertain significance Single submitter
- DFFA p.Ala294Thr Uncertain significance Single submitter
- DFFA p.Ala7Val Uncertain significance Single submitter
- DFFA p.Arg29Gly Uncertain significance Single submitter
- DFFA p.Arg307Gln Uncertain significance Single submitter
- DFFA p.Asp53Gly Uncertain significance Single submitter
- DFFA p.Gln130Arg Uncertain significance Single submitter
- DFFA p.Gln177Glu Uncertain significance Single submitter
- DFFA p.Gln190Lys Uncertain significance Single submitter
- DFFA p.Gln31Pro Uncertain significance Single submitter
- DFFA p.Glu109Gly Uncertain significance Single submitter
- DFFA p.Glu11Val Uncertain significance Single submitter
- DFFA p.Gly13Asp Uncertain significance Single submitter
- DFFA p.Gly217Asp Uncertain significance Single submitter
- DFFA p.Gly318Val Uncertain significance Single submitter
- DFFA p.Leu140Phe Uncertain significance Single submitter
- DFFA p.Leu149Phe Uncertain significance Single submitter
- DFFA p.Leu242Val Uncertain significance Single submitter
- DFFA p.Leu39Phe Uncertain significance Single submitter
- DFFA p.Lys125Arg Uncertain significance Single submitter
- DFFA p.Lys201Gln Uncertain significance Single submitter
- DFFA p.Pro251Ser Uncertain significance Single submitter
- DFFA p.Pro317His Uncertain significance Single submitter
- DFFA p.Ser232Ala Uncertain significance Single submitter
- DFFA p.Ser302Asn Uncertain significance Single submitter
- DFFA p.Ser310Thr Uncertain significance Single submitter
- DFFA p.Trp124Gly Uncertain significance Single submitter
- DFFA p.Val185Met Uncertain significance Single submitter
- DFFA p.Val220Met Uncertain significance Single submitter
- DFFA p.Val223Gly Uncertain significance Single submitter
- DFFA p.Val273Ile Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- DFFA p.Arg296Cys Likely benign Multiple submitters
- DFFA p.Ala250Pro Uncertain significance Single submitter
- DFFA p.Ala51Pro Uncertain significance Single submitter
- DFFA p.Arg16Trp Uncertain significance Single submitter
- DFFA p.Arg24His Uncertain significance Single submitter
- DFFA p.Arg307Trp Uncertain significance Single submitter
- DFFA p.Arg325Gln Benign Single submitter
- DFFA p.Arg325Leu Uncertain significance Single submitter
- DFFA p.Gln159Pro Uncertain significance Single submitter
- DFFA p.Glu200Gly Uncertain significance Single submitter
- DFFA p.Glu247Gln Uncertain significance Single submitter
- DFFA p.Ile309Thr Uncertain significance Single submitter
- DFFA p.Leu179Phe Uncertain significance Single submitter
- DFFA p.Leu255Phe Benign Single submitter
- DFFA p.Ser233Leu Uncertain significance Single submitter
- DFFA p.Thr282Met Uncertain significance Single submitter
- DFFA p.Tyr195Phe Uncertain significance Single submitter
- DFFA p.Val168Ile Uncertain significance Single submitter
All DFFA variants
Benign 4
- p.Cys165Arg Multiple submitters
- p.Thr300= Multiple submitters
- p.Arg325Gln Single submitter ⚠
- p.Leu255Phe Single submitter ⚠
Likely benign 7
- p.Arg296Cys Multiple submitters ⚠
- p.Arg170Gln Single submitter
- p.Arg246Lys Single submitter
- p.Arg291Gln Single submitter
- p.Asn97Ser Single submitter
- p.Lys265Arg Single submitter
- p.Tyr27His Single submitter
Uncertain significance 47
- p.Ala236Val Single submitter ⚠
- p.Ala250Pro Single submitter ⚠
- p.Ala250Ser Single submitter ⚠
- p.Ala294Thr Single submitter ⚠
- p.Ala51Pro Single submitter ⚠
- p.Ala7Val Single submitter ⚠
- p.Arg16Trp Single submitter ⚠
- p.Arg24His Single submitter ⚠
- p.Arg29Gly Single submitter ⚠
- p.Arg307Gln Single submitter ⚠
- p.Arg307Trp Single submitter ⚠
- p.Arg325Leu Single submitter ⚠
- p.Asp53Gly Single submitter ⚠
- p.Gln130Arg Single submitter ⚠
- p.Gln159Pro Single submitter ⚠
- p.Gln177Glu Single submitter ⚠
- p.Gln190Lys Single submitter ⚠
- p.Gln31Pro Single submitter ⚠
- p.Glu109Gly Single submitter ⚠
- p.Glu11Val Single submitter ⚠
- p.Glu200Gly Single submitter ⚠
- p.Glu247Gln Single submitter ⚠
- p.Gly13Asp Single submitter ⚠
- p.Gly217Asp Single submitter ⚠
- p.Gly318Val Single submitter ⚠
- p.Ile309Thr Single submitter ⚠
- p.Leu140Phe Single submitter ⚠
- p.Leu149Phe Single submitter ⚠
- p.Leu179Phe Single submitter ⚠
- p.Leu242Val Single submitter ⚠
- p.Leu39Phe Single submitter ⚠
- p.Lys125Arg Single submitter ⚠
- p.Lys201Gln Single submitter ⚠
- p.Pro251Ser Single submitter ⚠
- p.Pro317His Single submitter ⚠
- p.Ser232Ala Single submitter ⚠
- p.Ser233Leu Single submitter ⚠
- p.Ser302Asn Single submitter ⚠
- p.Ser310Thr Single submitter ⚠
- p.Thr282Met Single submitter ⚠
- p.Trp124Gly Single submitter ⚠
- p.Tyr195Phe Single submitter ⚠
- p.Val168Ile Single submitter ⚠
- p.Val185Met Single submitter ⚠
- p.Val220Met Single submitter ⚠
- p.Val223Gly Single submitter ⚠
- p.Val273Ile Single submitter ⚠