FRK — 45 ClinVar variants
All ClinVar germline FRK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
3 Likely benign · 42 Uncertain significance
Full FRK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FRK p.Ala160Ser Uncertain significance Single submitter
- FRK p.Arg143Gly Uncertain significance Single submitter
- FRK p.Arg377Gly Uncertain significance Single submitter
- FRK p.Arg406His Uncertain significance Single submitter
- FRK p.Arg42Ser Uncertain significance Single submitter
- FRK p.Arg89Leu Uncertain significance Single submitter
- FRK p.Asn135Lys Uncertain significance Single submitter
- FRK p.Asn408Ser Uncertain significance Single submitter
- FRK p.Asp230Asn Uncertain significance Single submitter
- FRK p.Gln39Glu Uncertain significance Single submitter
- FRK p.Glu403Lys Uncertain significance Single submitter
- FRK p.Gly138Ser Uncertain significance Single submitter
- FRK p.Gly33Val Uncertain significance Single submitter
- FRK p.Gly66Arg Uncertain significance Single submitter
- FRK p.His352Asn Uncertain significance Single submitter
- FRK p.Ile29Thr Uncertain significance Single submitter
- FRK p.Leu177Ile Uncertain significance Single submitter
- FRK p.Leu72Pro Uncertain significance Single submitter
- FRK p.Phe152Leu Uncertain significance Single submitter
- FRK p.Phe410Leu Uncertain significance Single submitter
- FRK p.Ser139Phe Uncertain significance Single submitter
- FRK p.Ser496Pro Uncertain significance Single submitter
- FRK p.Ser93Thr Uncertain significance Single submitter
- FRK p.Thr137Ser Uncertain significance Single submitter
- FRK p.Val161Ile Uncertain significance Single submitter
- FRK p.Val224Met Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- FRK p.Arg179Gln Uncertain significance Single submitter
- FRK p.Arg42Met Uncertain significance Single submitter
- FRK p.Gln235Glu Uncertain significance Single submitter
- FRK p.Gly174Arg Uncertain significance Single submitter
- FRK p.Ile302Val Uncertain significance Single submitter
- FRK p.Ile427Thr Uncertain significance Single submitter
- FRK p.Met269Val Uncertain significance Single submitter
- FRK p.Pro17Thr Uncertain significance Single submitter
- FRK p.Ser324Pro Uncertain significance Single submitter
- FRK p.Thr178Met Uncertain significance Single submitter
- FRK p.Thr194Asn Uncertain significance Single submitter
- FRK p.Thr21Met Uncertain significance Single submitter
- FRK p.Thr297Ser Uncertain significance Single submitter
- FRK p.Tyr303Phe Uncertain significance Single submitter
-
FRK p.Val162Ile
Uncertain significance
No assertion criteria
craniofacial microsomia 1
All FRK variants
Likely benign 3
- p.Asn320Ser Single submitter
- p.His45Arg Single submitter
- p.Pro115= Single submitter
Uncertain significance 42
- p.Ala160Ser Single submitter ⚠
- p.Arg143Gly Single submitter ⚠
- p.Arg179Gln Single submitter ⚠
- p.Arg377Gly Single submitter ⚠
- p.Arg406His Single submitter ⚠
- p.Arg42Met Single submitter ⚠
- p.Arg42Ser Single submitter ⚠
- p.Arg89Leu Single submitter ⚠
- p.Asn135Lys Single submitter ⚠
- p.Asn408Ser Single submitter ⚠
- p.Asp230Asn Single submitter ⚠
- p.Gln235Glu Single submitter ⚠
- p.Gln39Glu Single submitter ⚠
- p.Glu403Lys Single submitter ⚠
- p.Gly138Ser Single submitter ⚠
- p.Gly174Arg Single submitter ⚠
- p.Gly33Val Single submitter ⚠
- p.Gly66Arg Single submitter ⚠
- p.His352Asn Single submitter ⚠
- p.Ile29Thr Single submitter ⚠
- p.Ile302Val Single submitter ⚠
- p.Ile427Thr Single submitter ⚠
- p.Leu177Ile Single submitter ⚠
- p.Leu72Pro Single submitter ⚠
- p.Met269Val Single submitter ⚠
- p.Phe152Leu Single submitter ⚠
- p.Phe410Leu Single submitter ⚠
- p.Pro17Thr Single submitter ⚠
- p.Ser139Phe Single submitter ⚠
- p.Ser324Pro Single submitter ⚠
- p.Ser418Ter Single submitter
- p.Ser496Pro Single submitter ⚠
- p.Ser93Thr Single submitter ⚠
- p.Thr137Ser Single submitter ⚠
- p.Thr178Met Single submitter ⚠
- p.Thr194Asn Single submitter ⚠
- p.Thr21Met Single submitter ⚠
- p.Thr297Ser Single submitter ⚠
- p.Tyr303Phe Single submitter ⚠
- p.Val161Ile Single submitter ⚠
- p.Val224Met Single submitter ⚠
- p.Val162Ile No assertion criteria craniofacial microsomia 1 ⚠