PFKL — 126 ClinVar variants
All ClinVar germline PFKL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →
1 Conflicting · 7 Benign · 18 Likely benign · 100 Uncertain significance
Full PFKL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 97
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 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PFKL p.Arg513Cys Uncertain significance Multiple submitters
- PFKL p.Glu738Lys Uncertain significance Multiple submitters
- PFKL p.Val59Met Uncertain significance Multiple submitters
- PFKL p.Ala141Val Uncertain significance Single submitter
- PFKL p.Ala159Val Uncertain significance Single submitter
- PFKL p.Ala225Pro Uncertain significance Single submitter
- PFKL p.Ala548Thr Uncertain significance Single submitter
- PFKL p.Ala759Asp Uncertain significance Single submitter
- PFKL p.Ala759Gly Uncertain significance Single submitter
- PFKL p.Ala760Val Uncertain significance Single submitter
- PFKL p.Arg246Met Uncertain significance Single submitter
- PFKL p.Arg39His Uncertain significance Single submitter
- PFKL p.Arg419Cys Uncertain significance Single submitter
- PFKL p.Arg423Gln Uncertain significance Single submitter
- PFKL p.Arg461His Uncertain significance Single submitter
- PFKL p.Arg554Cys Uncertain significance Single submitter
- PFKL p.Arg672Trp Uncertain significance Single submitter
- PFKL p.Arg771His Uncertain significance Single submitter
- PFKL p.Arg88Cys Uncertain significance Single submitter
- PFKL p.Arg95Ser Uncertain significance Single submitter
- PFKL p.Arg98His Uncertain significance Single submitter
- PFKL p.Asn112Lys Uncertain significance Single submitter
- PFKL p.Asn270Ser Uncertain significance Single submitter
- PFKL p.Asn341Tyr Uncertain significance Single submitter
- PFKL p.Asn399Ile Uncertain significance Single submitter
- PFKL p.Asn600Ser Uncertain significance Single submitter
- PFKL p.Asp290Asn Uncertain significance Single submitter
- PFKL p.Asp309Asn Uncertain significance Single submitter
- PFKL p.Asp309Tyr Uncertain significance Single submitter
- PFKL p.Asp590Asn Uncertain significance Single submitter
- PFKL p.Asp652Asn Uncertain significance Single submitter
- PFKL p.Cys522Tyr Uncertain significance Single submitter
- PFKL p.Cys653Arg Uncertain significance Single submitter
- PFKL p.Gln300Arg Uncertain significance Single submitter
- PFKL p.Glu379Lys Uncertain significance Single submitter
- PFKL p.Glu56Gly Uncertain significance Single submitter
- PFKL p.Glu692Lys Uncertain significance Single submitter
- PFKL p.Gly213Arg Uncertain significance Single submitter
- PFKL p.Gly271Arg Uncertain significance Single submitter
- PFKL p.Gly425Val Uncertain significance Single submitter
- PFKL p.Gly496Asp Uncertain significance Single submitter
- PFKL p.Gly512Arg Uncertain significance Single submitter
- PFKL p.His430Asn Uncertain significance Single submitter
- PFKL p.Ile158Val Uncertain significance Single submitter
- PFKL p.Ile710Val Uncertain significance Single submitter
- PFKL p.Ile76Val Uncertain significance Single submitter
- PFKL p.Leu373His Uncertain significance Single submitter
- PFKL p.Leu539Gln Uncertain significance Single submitter
- PFKL p.Leu539Pro Uncertain significance Single submitter
- PFKL p.Met318Leu Uncertain significance Single submitter
- PFKL p.Met414Thr Uncertain significance Single submitter
- PFKL p.Met465Leu Uncertain significance Single submitter
- PFKL p.Met683Ile Uncertain significance Single submitter
- PFKL p.Pro332Gln Uncertain significance Single submitter
- PFKL p.Pro533Thr Uncertain significance Single submitter
- PFKL p.Ser180Leu Uncertain significance Single submitter
- PFKL p.Ser277Gly Uncertain significance Single submitter
- PFKL p.Ser313Arg Uncertain significance Single submitter
- PFKL p.Ser687Leu Uncertain significance Single submitter
- PFKL p.Thr149Ile Uncertain significance Single submitter
- PFKL p.Thr612Met Uncertain significance Single submitter
- PFKL p.Thr636Lys Uncertain significance Single submitter
- PFKL p.Val279Met Uncertain significance Single submitter
- PFKL p.Val335Met Uncertain significance Single submitter
- PFKL p.Val418Leu Uncertain significance Single submitter
- PFKL p.Val422Leu Uncertain significance Single submitter
- PFKL p.Val455Met Uncertain significance Single submitter
- PFKL p.Val532Ile Uncertain significance Single submitter
- PFKL p.Val569Met Uncertain significance Single submitter
- PFKL p.Val594Ile Uncertain significance Single submitter
- PFKL p.Val650Ile Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- PFKL p.Asp237Val Benign Multiple submitters
- PFKL p.Pro332Leu Uncertain significance Multiple submitters
- PFKL p.Ala320Val Uncertain significance Single submitter
- PFKL p.Ala323Thr Uncertain significance Single submitter
- PFKL p.Ala591Thr Uncertain significance Single submitter
- PFKL p.Arg253Cys Uncertain significance Single submitter
- PFKL p.Arg253His Uncertain significance Single submitter
- PFKL p.Arg269Cys Uncertain significance Single submitter
- PFKL p.Arg345Gln Uncertain significance Single submitter
- PFKL p.Arg485His Uncertain significance Single submitter
- PFKL p.Arg695His Uncertain significance Single submitter
- PFKL p.Arg737Trp Conflicting Single submitter
- PFKL p.Arg99Trp Uncertain significance Single submitter
- PFKL p.Gly109Ser Uncertain significance Single submitter
- PFKL p.Gly238Ser Uncertain significance Single submitter
- PFKL p.Gly425Ser Uncertain significance Single submitter
- PFKL p.Met316Val Uncertain significance Single submitter
- PFKL p.Ser154Leu Uncertain significance Single submitter
- PFKL p.Thr304Met Uncertain significance Single submitter
- PFKL p.Thr331Met Uncertain significance Single submitter
- PFKL p.Trp227Cys Uncertain significance Single submitter
- PFKL p.Tyr52Cys Uncertain significance Single submitter
- PFKL p.Tyr575Cys Uncertain significance Single submitter
- PFKL p.Val115Ile Uncertain significance Single submitter
- PFKL p.Val140Gly Uncertain significance Single submitter
- PFKL p.Val422Ala Uncertain significance Single submitter
All PFKL variants
Conflicting classifications of pathogenicity 1
- p.Arg737Trp Single submitter ⚠
Benign 7
- c.747+7G>A Multiple submitters
- p.Arg621= Multiple submitters
- p.Asp237Val Multiple submitters ⚠
- p.Leu122= Multiple submitters
- p.Val717Ala Multiple submitters
- c.86-858C>T Single submitter
- c.86-818C>T No assertion criteria PFKL-related disorder
Likely benign 18
- p.Ala320= Multiple submitters
- c.86-789G>C Single submitter
- p.Ala100Thr Single submitter
- p.Ala716Val Single submitter
- p.Arg151Gln Single submitter
- p.Asp454Asn Single submitter
- p.Phe203= Single submitter
- p.Phe308= Single submitter
- p.Ser743Asn Single submitter
- p.Thr371Ile Single submitter
- p.Val606Ala Single submitter
- c.1410-5T>C No assertion criteria PFKL-related disorder
- p.Ala417= No assertion criteria PFKL-related disorder
- p.Arg151= No assertion criteria PFKL-related disorder
- p.Asn531= No assertion criteria PFKL-related disorder
- p.Asp705Glu No assertion criteria PFKL-related disorder
- p.Pro329= No assertion criteria PFKL-related disorder
- p.Tyr761= No assertion criteria PFKL-related disorder
Uncertain significance 100
- p.Arg513Cys Multiple submitters ⚠
- p.Glu738Lys Multiple submitters ⚠
- p.Pro332Leu Multiple submitters ⚠
- p.Val59Met Multiple submitters ⚠
- c.844-2A>G Single submitter
- p.Ala141Val Single submitter ⚠
- p.Ala159Val Single submitter ⚠
- p.Ala225Pro Single submitter ⚠
- p.Ala320Val Single submitter ⚠
- p.Ala323Thr Single submitter ⚠
- p.Ala548Thr Single submitter ⚠
- p.Ala591Thr Single submitter ⚠
- p.Ala759Asp Single submitter ⚠
- p.Ala759Gly Single submitter ⚠
- p.Ala760Val Single submitter ⚠
- p.Arg246Met Single submitter ⚠
- p.Arg253Cys Single submitter ⚠
- p.Arg253His Single submitter ⚠
- p.Arg256Ter Single submitter
- p.Arg269Cys Single submitter ⚠
- p.Arg345Gln Single submitter ⚠
- p.Arg39His Single submitter ⚠
- p.Arg419Cys Single submitter ⚠
- p.Arg423Gln Single submitter ⚠
- p.Arg461His Single submitter ⚠
- p.Arg485fs Single submitter
- p.Arg485His Single submitter ⚠
- p.Arg554Cys Single submitter ⚠
- p.Arg672Trp Single submitter ⚠
- p.Arg695His Single submitter ⚠
- p.Arg771His Single submitter ⚠
- p.Arg88Cys Single submitter ⚠
- p.Arg95Ser Single submitter ⚠
- p.Arg98His Single submitter ⚠
- p.Arg99Trp Single submitter ⚠
- p.Asn112Lys Single submitter ⚠
- p.Asn270Ser Single submitter ⚠
- p.Asn341Tyr Single submitter ⚠
- p.Asn399Ile Single submitter ⚠
- p.Asn600Ser Single submitter ⚠
- p.Asp290Asn Single submitter ⚠
- p.Asp309Asn Single submitter ⚠
- p.Asp309Tyr Single submitter ⚠
- p.Asp590Asn Single submitter ⚠
- p.Asp603Asn Single submitter
- p.Asp652Asn Single submitter ⚠
- p.Cys522Tyr Single submitter ⚠
- p.Cys653Arg Single submitter ⚠
- p.Gln300Arg Single submitter ⚠
- p.Glu379Lys Single submitter ⚠
- p.Glu56Gly Single submitter ⚠
- p.Glu692Lys Single submitter ⚠
- p.Gly109Ser Single submitter ⚠
- p.Gly213Arg Single submitter ⚠
- p.Gly238Ser Single submitter ⚠
- p.Gly271Arg Single submitter ⚠
- p.Gly425Ser Single submitter ⚠
- p.Gly425Val Single submitter ⚠
- p.Gly496Asp Single submitter ⚠
- p.Gly512Arg Single submitter ⚠
- p.His430Asn Single submitter ⚠
- p.Ile158Val Single submitter ⚠
- p.Ile710Val Single submitter ⚠
- p.Ile76Val Single submitter ⚠
- p.Leu373His Single submitter ⚠
- p.Leu539Gln Single submitter ⚠
- p.Leu539Pro Single submitter ⚠
- p.Met316Val Single submitter ⚠
- p.Met318Leu Single submitter ⚠
- p.Met414Thr Single submitter ⚠
- p.Met465Leu Single submitter ⚠
- p.Met683Ile Single submitter ⚠
- p.Pro332Gln Single submitter ⚠
- p.Pro533Thr Single submitter ⚠
- p.Ser154Leu Single submitter ⚠
- p.Ser180Leu Single submitter ⚠
- p.Ser277Gly Single submitter ⚠
- p.Ser313Arg Single submitter ⚠
- p.Ser687Leu Single submitter ⚠
- p.Thr149Ile Single submitter ⚠
- p.Thr304Met Single submitter ⚠
- p.Thr331Met Single submitter ⚠
- p.Thr612Met Single submitter ⚠
- p.Thr636Lys Single submitter ⚠
- p.Trp227Cys Single submitter ⚠
- p.Tyr52Cys Single submitter ⚠
- p.Tyr575Cys Single submitter ⚠
- p.Val115Ile Single submitter ⚠
- p.Val140Gly Single submitter ⚠
- p.Val279Met Single submitter ⚠
- p.Val335Met Single submitter ⚠
- p.Val418Leu Single submitter ⚠
- p.Val422Ala Single submitter ⚠
- p.Val422Leu Single submitter ⚠
- p.Val455Met Single submitter ⚠
- p.Val532Ile Single submitter ⚠
- p.Val569Met Single submitter ⚠
- p.Val594Ile Single submitter ⚠
- p.Val650Ile Single submitter ⚠
- p.Val709Met Single submitter