ADIRF — 11 ClinVar variants
All ClinVar germline ADIRF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
11 Uncertain significance
Full ADIRF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 6
The independent predictors disagree with each other — read with care.
- ADIRF p.Ala17Pro Uncertain significance Single submitter
- ADIRF p.Ala27Pro Uncertain significance Single submitter
- ADIRF p.Ala27Val Uncertain significance Single submitter
- ADIRF p.Gly15Trp Uncertain significance Single submitter
- ADIRF p.Lys76Gln Uncertain significance Single submitter
- ADIRF p.Ser22Leu Uncertain significance Single submitter
All ADIRF variants
Uncertain significance 11
- p.Ala17Pro Single submitter ⚠
- p.Ala27Pro Single submitter ⚠
- p.Ala27Val Single submitter ⚠
- p.Ala47Thr Single submitter ⚠
- p.Asp55Glu Single submitter ⚠
- p.Gly15Ala Single submitter ⚠
- p.Gly15Trp Single submitter ⚠
- p.Lys56Glu Single submitter ⚠
- p.Lys76Gln Single submitter ⚠
- p.Ser22Leu Single submitter ⚠
- p.Thr57Ala Single submitter ⚠