PNN — 83 ClinVar variants
All ClinVar germline PNN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →
3 Benign · 1 Benign/Likely benign · 1 Likely benign · 78 Uncertain significance
Full PNN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 78
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 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PNN p.Ala111Thr Uncertain significance Single submitter
- PNN p.Ala343Val Uncertain significance Single submitter
- PNN p.Ala421Pro Uncertain significance Single submitter
- PNN p.Ala421Val Uncertain significance Single submitter
- PNN p.Ala474Val Uncertain significance Single submitter
- PNN p.Arg125Cys Uncertain significance Single submitter
- PNN p.Arg299His Uncertain significance Single submitter
- PNN p.Arg642Gly Uncertain significance Single submitter
- PNN p.Arg696Gln Uncertain significance Single submitter
- PNN p.Arg712Lys Uncertain significance Single submitter
- PNN p.Asn279His Uncertain significance Single submitter
- PNN p.Asn324Ser Uncertain significance Single submitter
- PNN p.Asp380Gly Uncertain significance Single submitter
- PNN p.Asp388Asn Uncertain significance Single submitter
- PNN p.Asp529Asn Uncertain significance Single submitter
- PNN p.Asp686Asn Uncertain significance Single submitter
- PNN p.Asp686Gly Uncertain significance Single submitter
- PNN p.Gln497Arg Uncertain significance Single submitter
- PNN p.Gln518Arg Uncertain significance Single submitter
- PNN p.Glu316Asp Uncertain significance Single submitter
- PNN p.Glu339Gly Uncertain significance Single submitter
- PNN p.Glu352Val Uncertain significance Single submitter
- PNN p.Glu368Lys Uncertain significance Single submitter
- PNN p.Glu467Lys Uncertain significance Single submitter
- PNN p.Glu503Gly Uncertain significance Single submitter
- PNN p.Glu630Lys Uncertain significance Single submitter
- PNN p.Glu693Asp Uncertain significance Single submitter
- PNN p.Gly670Val Uncertain significance Single submitter
- PNN p.Gly677Glu Uncertain significance Single submitter
- PNN p.Gly87Ser Uncertain significance Single submitter
- PNN p.His398Tyr Uncertain significance Single submitter
- PNN p.His522Tyr Uncertain significance Single submitter
- PNN p.His640Leu Uncertain significance Single submitter
- PNN p.His646Gln Uncertain significance Single submitter
- PNN p.Ile256Val Uncertain significance Single submitter
- PNN p.Ile272Val Uncertain significance Single submitter
- PNN p.Ile691Met Uncertain significance Single submitter
- PNN p.Leu425Met Uncertain significance Single submitter
- PNN p.Leu442His Uncertain significance Single submitter
- PNN p.Leu494Val Uncertain significance Single submitter
- PNN p.Leu510Val Uncertain significance Single submitter
- PNN p.Leu537Pro Uncertain significance Single submitter
- PNN p.Lys186Arg Uncertain significance Single submitter
- PNN p.Lys359Arg Uncertain significance Single submitter
- PNN p.Lys423Glu Uncertain significance Single submitter
- PNN p.Lys461Asn Uncertain significance Single submitter
- PNN p.Lys555Glu Uncertain significance Single submitter
- PNN p.Lys699Gln Uncertain significance Single submitter
- PNN p.Met387Thr Uncertain significance Single submitter
- PNN p.Met454Val Uncertain significance Single submitter
- PNN p.Pro250Thr Uncertain significance Single submitter
- PNN p.Pro531Leu Uncertain significance Single submitter
- PNN p.Ser347Ile Uncertain significance Single submitter
- PNN p.Ser605Gly Uncertain significance Single submitter
- PNN p.Thr588Ile Uncertain significance Single submitter
- PNN p.Thr625Ile Uncertain significance Single submitter
- PNN p.Thr675Arg Uncertain significance Single submitter
- PNN p.Thr92Ile Uncertain significance Single submitter
- PNN p.Val516Ala Uncertain significance Single submitter
- PNN p.Val540Ile Uncertain significance Single submitter
- PNN p.Val650Leu Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- PNN p.Arg143Gln Uncertain significance Single submitter
- PNN p.Arg166Gly Uncertain significance Single submitter
- PNN p.Arg271Cys Uncertain significance Single submitter
- PNN p.Arg652Gln Uncertain significance Single submitter
- PNN p.Arg654Ser Uncertain significance Single submitter
- PNN p.Arg684Trp Uncertain significance Single submitter
- PNN p.Arg97Leu Uncertain significance Single submitter
- PNN p.Asp67Val Uncertain significance Single submitter
- PNN p.Gln130Arg Uncertain significance Single submitter
- PNN p.Glu369Gly Uncertain significance Single submitter
- PNN p.Leu255Val Uncertain significance Single submitter
- PNN p.Lys212Asn Uncertain significance Single submitter
- PNN p.Lys699Thr Uncertain significance Single submitter
- PNN p.Pro73Ser Uncertain significance Single submitter
- PNN p.Ser584Arg Uncertain significance Single submitter
- PNN p.Ser603Cys Uncertain significance Single submitter
- PNN p.Ser618Asn Uncertain significance Single submitter
All PNN variants
Benign 3
- c.185+10C>T Multiple submitters
- p.Glu526Lys Multiple submitters
- p.Ser624= Multiple submitters
Benign/Likely benign 1
- p.Arg185= Multiple submitters
Likely benign 1
- p.Pro550Ser Single submitter
Uncertain significance 78
- p.Ala111Thr Single submitter ⚠
- p.Ala343Val Single submitter ⚠
- p.Ala421Pro Single submitter ⚠
- p.Ala421Val Single submitter ⚠
- p.Ala474Val Single submitter ⚠
- p.Arg125Cys Single submitter ⚠
- p.Arg143Gln Single submitter ⚠
- p.Arg166Gly Single submitter ⚠
- p.Arg271Cys Single submitter ⚠
- p.Arg299His Single submitter ⚠
- p.Arg642Gly Single submitter ⚠
- p.Arg652Gln Single submitter ⚠
- p.Arg654Ser Single submitter ⚠
- p.Arg684Trp Single submitter ⚠
- p.Arg696Gln Single submitter ⚠
- p.Arg712Lys Single submitter ⚠
- p.Arg97Leu Single submitter ⚠
- p.Asn279His Single submitter ⚠
- p.Asn324Ser Single submitter ⚠
- p.Asp380Gly Single submitter ⚠
- p.Asp388Asn Single submitter ⚠
- p.Asp529Asn Single submitter ⚠
- p.Asp67Val Single submitter ⚠
- p.Asp686Asn Single submitter ⚠
- p.Asp686Gly Single submitter ⚠
- p.Gln130Arg Single submitter ⚠
- p.Gln497Arg Single submitter ⚠
- p.Gln518Arg Single submitter ⚠
- p.Glu316Asp Single submitter ⚠
- p.Glu339Gly Single submitter ⚠
- p.Glu352Val Single submitter ⚠
- p.Glu368Lys Single submitter ⚠
- p.Glu369Gly Single submitter ⚠
- p.Glu467Lys Single submitter ⚠
- p.Glu503Gly Single submitter ⚠
- p.Glu630Lys Single submitter ⚠
- p.Glu693Asp Single submitter ⚠
- p.Gly670Val Single submitter ⚠
- p.Gly677Glu Single submitter ⚠
- p.Gly87Ser Single submitter ⚠
- p.His398Tyr Single submitter ⚠
- p.His522Tyr Single submitter ⚠
- p.His640Leu Single submitter ⚠
- p.His646Gln Single submitter ⚠
- p.Ile256Val Single submitter ⚠
- p.Ile272Val Single submitter ⚠
- p.Ile691Met Single submitter ⚠
- p.Leu255Val Single submitter ⚠
- p.Leu425Met Single submitter ⚠
- p.Leu442His Single submitter ⚠
- p.Leu494Val Single submitter ⚠
- p.Leu510Val Single submitter ⚠
- p.Leu537Pro Single submitter ⚠
- p.Lys186Arg Single submitter ⚠
- p.Lys212Asn Single submitter ⚠
- p.Lys359Arg Single submitter ⚠
- p.Lys423Glu Single submitter ⚠
- p.Lys461Asn Single submitter ⚠
- p.Lys555Glu Single submitter ⚠
- p.Lys699Gln Single submitter ⚠
- p.Lys699Thr Single submitter ⚠
- p.Met387Thr Single submitter ⚠
- p.Met454Val Single submitter ⚠
- p.Pro250Thr Single submitter ⚠
- p.Pro531Leu Single submitter ⚠
- p.Pro73Ser Single submitter ⚠
- p.Ser347Ile Single submitter ⚠
- p.Ser584Arg Single submitter ⚠
- p.Ser603Cys Single submitter ⚠
- p.Ser605Gly Single submitter ⚠
- p.Ser618Asn Single submitter ⚠
- p.Thr588Ile Single submitter ⚠
- p.Thr625Ile Single submitter ⚠
- p.Thr675Arg Single submitter ⚠
- p.Thr92Ile Single submitter ⚠
- p.Val516Ala Single submitter ⚠
- p.Val540Ile Single submitter ⚠
- p.Val650Leu Single submitter ⚠