CFLAR — 37 ClinVar variants
All ClinVar germline CFLAR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
2 Benign · 3 Likely benign · 32 Uncertain significance
Full CFLAR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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.
- CFLAR p.Ala178Thr Uncertain significance Single submitter
- CFLAR p.Ala349Ser Uncertain significance Single submitter
- CFLAR p.Arg397Pro Uncertain significance Single submitter
- CFLAR p.Asn199Ser Uncertain significance Single submitter
- CFLAR p.Asn205His Uncertain significance Single submitter
- CFLAR p.Asp103Glu Uncertain significance Single submitter
- CFLAR p.Asp118Glu Uncertain significance Single submitter
- CFLAR p.Cys298Arg Uncertain significance Single submitter
- CFLAR p.Gln220Leu Uncertain significance Single submitter
- CFLAR p.Gln237Pro Uncertain significance Single submitter
- CFLAR p.Gln279Arg Uncertain significance Single submitter
- CFLAR p.Gln8Glu Uncertain significance Single submitter
- CFLAR p.Glu301Lys Uncertain significance Single submitter
- CFLAR p.Ile190Met Uncertain significance Single submitter
- CFLAR p.Ile43Thr Uncertain significance Single submitter
- CFLAR p.Ile43Val Uncertain significance Single submitter
- CFLAR p.Leu367Val Uncertain significance Single submitter
- CFLAR p.Met120Ile Uncertain significance Single submitter
- CFLAR p.Met20Val Uncertain significance Single submitter
- CFLAR p.Ser285Asn Uncertain significance Single submitter
- CFLAR p.Ser458Pro Uncertain significance Single submitter
- CFLAR p.Val52Phe Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CFLAR p.Arg315Gln Uncertain significance Single submitter
- CFLAR p.Asp108Glu Uncertain significance Single submitter
- CFLAR p.Ile125Thr Uncertain significance Single submitter
- CFLAR p.Leu58Val Uncertain significance Single submitter
- CFLAR p.Lys140Thr Uncertain significance Single submitter
- CFLAR p.Met341Val Uncertain significance Single submitter
- CFLAR p.Met354Ile Uncertain significance Single submitter
- CFLAR p.Pro300Leu Uncertain significance Single submitter
- CFLAR p.Ser419Leu Uncertain significance Single submitter
- CFLAR p.Val109Met Uncertain significance Single submitter
All CFLAR variants
Benign 2
- p.Leu203Ile Multiple submitters
- p.Val375= Multiple submitters
Likely benign 3
- p.Ala219Thr Single submitter
- p.Asn382Ser Single submitter
- p.Gln191Pro Single submitter
Uncertain significance 32
- p.Ala178Thr Single submitter ⚠
- p.Ala349Ser Single submitter ⚠
- p.Arg315Gln Single submitter ⚠
- p.Arg397Pro Single submitter ⚠
- p.Asn199Ser Single submitter ⚠
- p.Asn205His Single submitter ⚠
- p.Asp103Glu Single submitter ⚠
- p.Asp108Glu Single submitter ⚠
- p.Asp118Glu Single submitter ⚠
- p.Cys298Arg Single submitter ⚠
- p.Gln220Leu Single submitter ⚠
- p.Gln237Pro Single submitter ⚠
- p.Gln279Arg Single submitter ⚠
- p.Gln8Glu Single submitter ⚠
- p.Glu301Lys Single submitter ⚠
- p.Ile125Thr Single submitter ⚠
- p.Ile190Met Single submitter ⚠
- p.Ile43Thr Single submitter ⚠
- p.Ile43Val Single submitter ⚠
- p.Leu367Val Single submitter ⚠
- p.Leu58Val Single submitter ⚠
- p.Lys140Thr Single submitter ⚠
- p.Met120Ile Single submitter ⚠
- p.Met20Val Single submitter ⚠
- p.Met341Val Single submitter ⚠
- p.Met354Ile Single submitter ⚠
- p.Pro300Leu Single submitter ⚠
- p.Ser285Asn Single submitter ⚠
- p.Ser419Leu Single submitter ⚠
- p.Ser458Pro Single submitter ⚠
- p.Val109Met Single submitter ⚠
- p.Val52Phe Single submitter ⚠