PFKFB1 — 57 ClinVar variants
All ClinVar germline PFKFB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
2 Conflicting · 4 Likely benign · 51 Uncertain significance
Full PFKFB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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.
Predictors lean, ClinVar uncertain 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PFKFB1 p.Ala128Glu Uncertain significance Single submitter
- PFKFB1 p.Ala469Gly Uncertain significance Single submitter
- PFKFB1 p.Ala85Ser Uncertain significance Single submitter
- PFKFB1 p.Ala85Thr Uncertain significance Single submitter
- PFKFB1 p.Arg105Trp Uncertain significance Single submitter
- PFKFB1 p.Arg231Gln Uncertain significance Single submitter
- PFKFB1 p.Arg353Gln Uncertain significance Single submitter
- PFKFB1 p.Arg398Gln Uncertain significance Single submitter
- PFKFB1 p.Arg82Gln Uncertain significance Single submitter
- PFKFB1 p.Asn118Ser Uncertain significance Single submitter
- PFKFB1 p.Asn327Tyr Uncertain significance Single submitter
- PFKFB1 p.Asn98Lys Uncertain significance Single submitter
- PFKFB1 p.Cys417Tyr Uncertain significance Single submitter
- PFKFB1 p.Gln394Glu Uncertain significance Single submitter
- PFKFB1 p.Glu210Lys Uncertain significance Single submitter
- PFKFB1 p.Glu261Lys Uncertain significance Single submitter
- PFKFB1 p.Gly268Val Uncertain significance Single submitter
- PFKFB1 p.Ile182Thr Uncertain significance Single submitter
- PFKFB1 p.Ile254Thr Uncertain significance Single submitter
- PFKFB1 p.Ile342Val Uncertain significance Single submitter
- PFKFB1 p.Leu326Gln Uncertain significance Single submitter
-
PFKFB1 p.Lys416Arg
Uncertain significance
Single submitter
familial long QT syndrome
- PFKFB1 p.Lys89Glu Uncertain significance Single submitter
- PFKFB1 p.Met228Ile Uncertain significance Single submitter
- PFKFB1 p.Met228Leu Uncertain significance Single submitter
- PFKFB1 p.Met245Ile Uncertain significance Single submitter
- PFKFB1 p.Pro206Ser Uncertain significance Single submitter
- PFKFB1 p.Pro96Ala Uncertain significance Single submitter
- PFKFB1 p.Thr338Ile Uncertain significance Single submitter
- PFKFB1 p.Thr63Ile Uncertain significance Single submitter
- PFKFB1 p.Tyr200Cys Uncertain significance Single submitter
- PFKFB1 p.Tyr358Cys Uncertain significance Single submitter
- PFKFB1 p.Val48Ala Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- PFKFB1 p.Arg172Gly Uncertain significance Single submitter
- PFKFB1 p.Arg226Cys Uncertain significance Single submitter
- PFKFB1 p.Arg269His Conflicting Single submitter
- PFKFB1 p.Arg29Trp Uncertain significance Single submitter
- PFKFB1 p.Asp208Gly Uncertain significance Single submitter
- PFKFB1 p.Asp455His Uncertain significance Single submitter
- PFKFB1 p.Glu344Gly Uncertain significance Single submitter
- PFKFB1 p.Gly295Val Uncertain significance Single submitter
- PFKFB1 p.Ile69Met Uncertain significance Single submitter
- PFKFB1 p.Pro206His Uncertain significance Single submitter
- PFKFB1 p.Pro96Leu Uncertain significance Single submitter
- PFKFB1 p.Ser367Cys Uncertain significance Single submitter
- PFKFB1 p.Thr426Ser Uncertain significance Single submitter
- PFKFB1 p.Tyr152Cys Uncertain significance Single submitter
- PFKFB1 p.Val75Ala Uncertain significance Single submitter
All PFKFB1 variants
Conflicting classifications of pathogenicity 2
- p.Arg269His Single submitter ⚠
- p.Leu405Pro Single submitter ⚠
Likely benign 4
- c.1099-6G>T Single submitter
- p.Arg172Lys Single submitter
- p.Lys188Asn Single submitter
- p.Phe350Tyr No assertion criteria
Uncertain significance 51
- p.Ala128Glu Single submitter ⚠
- p.Ala469Gly Single submitter ⚠
- p.Ala85Ser Single submitter ⚠
- p.Ala85Thr Single submitter ⚠
- p.Arg105Trp Single submitter ⚠
- p.Arg172Gly Single submitter ⚠
- p.Arg226Cys Single submitter ⚠
- p.Arg231Gln Single submitter ⚠
- p.Arg252His Single submitter
- p.Arg29Trp Single submitter ⚠
- p.Arg353Gln Single submitter ⚠
- p.Arg398Gln Single submitter ⚠
- p.Arg82Gln Single submitter ⚠
- p.Asn118Ser Single submitter ⚠
- p.Asn327Tyr Single submitter ⚠
- p.Asn98Lys Single submitter ⚠
- p.Asp208Gly Single submitter ⚠
- p.Asp455His Single submitter ⚠
- p.Cys392Gly Single submitter
- p.Cys417Tyr Single submitter ⚠
- p.Gln394Glu Single submitter ⚠
- p.Glu210Lys Single submitter ⚠
- p.Glu261Lys Single submitter ⚠
- p.Glu344Gly Single submitter ⚠
- p.Gly268Val Single submitter ⚠
- p.Gly295Val Single submitter ⚠
- p.Ile182Thr Single submitter ⚠
- p.Ile254Thr Single submitter ⚠
- p.Ile342Val Single submitter ⚠
- p.Ile69Met Single submitter ⚠
- p.Leu326Gln Single submitter ⚠
- p.Lys416Arg Single submitter familial long QT syndrome ⚠
- p.Lys89Glu Single submitter ⚠
- p.Met228Ile Single submitter ⚠
- p.Met228Leu Single submitter ⚠
- p.Met245Ile Single submitter ⚠
- p.Pro206His Single submitter ⚠
- p.Pro206Ser Single submitter ⚠
- p.Pro42Arg Single submitter
- p.Pro96Ala Single submitter ⚠
- p.Pro96Leu Single submitter ⚠
- p.Ser159Thr Single submitter
- p.Ser367Cys Single submitter ⚠
- p.Thr338Ile Single submitter ⚠
- p.Thr426Ser Single submitter ⚠
- p.Thr63Ile Single submitter ⚠
- p.Tyr152Cys Single submitter ⚠
- p.Tyr200Cys Single submitter ⚠
- p.Tyr358Cys Single submitter ⚠
- p.Val48Ala Single submitter ⚠
- p.Val75Ala Single submitter ⚠