AIF1L — 18 ClinVar variants
All ClinVar germline AIF1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
18 Uncertain significance
Full AIF1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AIF1L p.Arg106Gln Uncertain significance Single submitter
- AIF1L p.Asn7Asp Uncertain significance Single submitter
- AIF1L p.Glu23Gln Uncertain significance Single submitter
- AIF1L p.Ile103Val Uncertain significance Single submitter
- AIF1L p.Leu34Gln Uncertain significance Single submitter
- AIF1L p.Pro140Leu Uncertain significance Single submitter
- AIF1L p.Ser100Thr Uncertain significance Single submitter
- AIF1L p.Ser2Leu Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- AIF1L p.Arg31Trp Uncertain significance Single submitter
- AIF1L p.Glu58Val Uncertain significance Single submitter
- AIF1L p.Gly114Ala Uncertain significance Single submitter
- AIF1L p.Gly16Ser Uncertain significance Single submitter
- AIF1L p.Ile29Thr Uncertain significance Single submitter
- AIF1L p.Leu45Phe Uncertain significance Single submitter
- AIF1L p.Lys38Asn Uncertain significance Single submitter
All AIF1L variants
Uncertain significance 18
- c.94-5387A>G Single submitter
- c.94-5405G>A Single submitter
- p.Arg106Gln Single submitter ⚠
- p.Arg116Gln Single submitter
- p.Arg31Trp Single submitter ⚠
- p.Asn7Asp Single submitter ⚠
- p.Glu23Gln Single submitter ⚠
- p.Glu58Val Single submitter ⚠
- p.Gly114Ala Single submitter ⚠
- p.Gly16Ser Single submitter ⚠
- p.Ile103Val Single submitter ⚠
- p.Ile29Thr Single submitter ⚠
- p.Leu34Gln Single submitter ⚠
- p.Leu45Phe Single submitter ⚠
- p.Lys38Asn Single submitter ⚠
- p.Pro140Leu Single submitter ⚠
- p.Ser100Thr Single submitter ⚠
- p.Ser2Leu Single submitter ⚠