PNCK — 39 ClinVar variants
All ClinVar germline PNCK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Conflicting · 2 Benign · 5 Likely benign · 31 Uncertain significance
Full PNCK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PNCK p.Ala89Ser Uncertain significance Single submitter
- PNCK p.Arg135Gln Uncertain significance Single submitter
- PNCK p.Arg294Gln Uncertain significance Single submitter
- PNCK p.Arg311Gln Uncertain significance Single submitter
- PNCK p.Arg329His Uncertain significance Single submitter
- PNCK p.Asp112Asn Uncertain significance Single submitter
- PNCK p.Asp194Ala Uncertain significance Single submitter
- PNCK p.Asp238Gly Uncertain significance Single submitter
- PNCK p.Gln256His Uncertain significance Single submitter
- PNCK p.Gly118Val Uncertain significance Single submitter
- PNCK p.His115Arg Uncertain significance Single submitter
- PNCK p.His39Tyr Uncertain significance Single submitter
- PNCK p.Leu198Val Uncertain significance Single submitter
- PNCK p.Leu220Ile Uncertain significance Single submitter
- PNCK p.Met103Thr Uncertain significance Single submitter
- PNCK p.Pro317Leu Uncertain significance Single submitter
- PNCK p.Ser151Trp Uncertain significance Single submitter
- PNCK p.Val155Asp Uncertain significance Single submitter
- PNCK p.Val79Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- PNCK p.Ala264Val Uncertain significance Single submitter
- PNCK p.Arg248Gln Uncertain significance Single submitter
- PNCK p.Arg248Trp Uncertain significance Single submitter
- PNCK p.Arg289Trp Uncertain significance Single submitter
- PNCK p.Gly53Asp Uncertain significance Single submitter
- PNCK p.Lys6Ile Uncertain significance Single submitter
- PNCK p.Val200Ile Uncertain significance Single submitter
All PNCK variants
Conflicting classifications of pathogenicity 1
- p.Glu77Lys Single submitter ⚠
Benign 2
- c.68+14C>T Multiple submitters
- p.Gly319= Multiple submitters
Likely benign 5
- p.Ala38Ser Single submitter
- p.Arg266Gln Single submitter
- p.Arg289Gln Single submitter
- p.Gly334= Single submitter
- c.276-42C>T No assertion criteria PNCK-related condition
Uncertain significance 31
- c.-1C>G Single submitter
- c.-2A>G Single submitter
- p.Ala264Val Single submitter ⚠
- p.Ala89Ser Single submitter ⚠
- p.Arg135Gln Single submitter ⚠
- p.Arg248Gln Single submitter ⚠
- p.Arg248Trp Single submitter ⚠
- p.Arg289Trp Single submitter ⚠
- p.Arg294Gln Single submitter ⚠
- p.Arg311Gln Single submitter ⚠
- p.Arg329His Single submitter ⚠
- p.Asp112Asn Single submitter ⚠
- p.Asp194Ala Single submitter ⚠
- p.Asp238Gly Single submitter ⚠
- p.Cys13Tyr Single submitter
- p.Gln256His Single submitter ⚠
- p.Glu28Lys Single submitter
- p.Gly118Val Single submitter ⚠
- p.Gly53Asp Single submitter ⚠
- p.His115Arg Single submitter ⚠
- p.His39Tyr Single submitter ⚠
- p.Leu198Val Single submitter ⚠
- p.Leu220Ile Single submitter ⚠
- p.Lys6Ile Single submitter ⚠
- p.Met103Thr Single submitter ⚠
- p.Pro317Leu Single submitter ⚠
- p.Ser151Trp Single submitter ⚠
- p.Trp32Arg Single submitter
- p.Val155Asp Single submitter ⚠
- p.Val200Ile Single submitter ⚠
- p.Val79Ile Single submitter ⚠