FOXK1 — 101 ClinVar variants

All ClinVar germline FOXK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →

1 Conflicting · 6 Benign · 7 Likely benign · 87 Uncertain significance

Full FOXK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 83

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

FOXK1 p.Ala68Thr Conflicting Single submitter

Predictors lean, ClinVar uncertain 73

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 9

The independent predictors disagree with each other — read with care.

All FOXK1 variants

Conflicting classifications of pathogenicity 1

p.Ala68Thr Single submitter ⚠

Benign 6

p.Ala724= Multiple submitters
c.1921+10T>C Single submitter
p.Ala345= Single submitter
p.Ala694Thr Single submitter
p.Ser431= Single submitter
p.Ser656= Single submitter

Likely benign 7

p.Ala639Thr Single submitter
p.Ala657Thr Single submitter
p.Ala722Thr Single submitter
p.Pro23= Single submitter
p.Pro54= Single submitter
p.Tyr310= Single submitter
p.Val241Ile Single submitter

Uncertain significance 87

p.Ala107Val Single submitter ⚠
p.Ala287Thr Single submitter ⚠
p.Ala287Val Single submitter ⚠
p.Ala321Thr Single submitter ⚠
p.Ala387Gly Single submitter ⚠
p.Ala42Thr Single submitter ⚠
p.Ala44Thr Single submitter ⚠
p.Ala44Val Single submitter ⚠
p.Ala482Thr Single submitter ⚠
p.Ala509Val Single submitter ⚠
p.Ala535Gly Single submitter ⚠
p.Ala546Val Single submitter ⚠
p.Ala574Gly Single submitter ⚠
p.Ala580Glu Single submitter ⚠
p.Ala657Val Single submitter ⚠
p.Ala677Ser Single submitter ⚠
p.Ala677Thr Single submitter ⚠
p.Ala678Ser Single submitter ⚠
p.Ala68Gly Single submitter ⚠
p.Ala82Thr Single submitter ⚠
p.Arg119Ser Single submitter ⚠
p.Arg161His Single submitter ⚠
p.Arg177Pro Single submitter ⚠
p.Arg216Gln Single submitter ⚠
p.Arg235Gln Single submitter ⚠
p.Arg663Gln Single submitter ⚠
p.Asn633His Single submitter ⚠
p.Asp293Asn Single submitter ⚠
p.Asp323His Single submitter ⚠
p.Asp346Asn Single submitter ⚠
p.Gln45Leu Single submitter ⚠
p.Glu209Gly Single submitter ⚠
p.Glu209Lys Single submitter ⚠
p.Glu563Gln Single submitter ⚠
p.Glu701Lys Single submitter ⚠
p.Gly547Arg Single submitter ⚠
p.Gly548Cys Single submitter ⚠
p.Gly595Arg Single submitter
p.Gly637Ser Single submitter ⚠
p.Gly63Val Single submitter ⚠
p.Gly725Ser Single submitter ⚠
p.Gly732Arg Single submitter ⚠
p.Gly76Arg Single submitter ⚠
p.His334Tyr Single submitter ⚠
p.His599Gln Single submitter ⚠
p.His628Asn Single submitter ⚠
p.Ile144Val Single submitter
p.Ile513Val Single submitter ⚠
p.Ile539Leu Single submitter ⚠
p.Ile573Val Single submitter ⚠
p.Leu136Trp Single submitter ⚠
p.Leu218Val Single submitter ⚠
p.Leu90Arg Single submitter ⚠
p.Lys198Glu Single submitter ⚠
p.Lys226Arg Single submitter ⚠
p.Lys226Asn Single submitter ⚠
p.Lys493Arg Single submitter ⚠
p.Met237Ile Single submitter ⚠
p.Pro102Leu Single submitter ⚠
p.Pro230Leu Single submitter ⚠
p.Pro244Leu Single submitter ⚠
p.Pro43Ser Single submitter ⚠
p.Pro451Ser Single submitter ⚠
p.Pro451Thr Single submitter ⚠
p.Pro487Leu Single submitter ⚠
p.Pro52Leu Single submitter ⚠
p.Pro609His Single submitter ⚠
p.Pro684Leu Single submitter ⚠
p.Ser142Asn Single submitter ⚠
p.Ser253Pro Single submitter ⚠
p.Ser413Tyr Single submitter ⚠
p.Ser542Arg Single submitter
p.Thr294Met Single submitter ⚠
p.Thr336Ser Single submitter ⚠
p.Thr407Ile Single submitter ⚠
p.Thr600Arg Single submitter ⚠
p.Thr600Met Single submitter ⚠
p.Thr662Ser Single submitter ⚠
p.Val390Leu Single submitter
p.Val390Met Single submitter ⚠
p.Val474Gly Single submitter
p.Val479Met Single submitter ⚠
p.Val491Leu Single submitter ⚠
p.Val557Met Single submitter ⚠
p.Val630Phe Single submitter ⚠
p.Val676Ile Single submitter ⚠
p.Val77Ile Single submitter ⚠