PPID — 59 ClinVar variants
All ClinVar germline PPID variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
2 Benign · 4 Likely benign · 53 Uncertain significance
Full PPID gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPID p.Ala299Pro Uncertain significance Single submitter
- PPID p.Ala326Thr Uncertain significance Single submitter
- PPID p.Ala356Thr Uncertain significance Single submitter
- PPID p.Arg125His Uncertain significance Single submitter
- PPID p.Arg49Pro Uncertain significance Single submitter
- PPID p.Arg75Leu Uncertain significance Single submitter
- PPID p.Asp105Gly Uncertain significance Single submitter
- PPID p.Asp188Gly Uncertain significance Single submitter
- PPID p.Cys52Phe Uncertain significance Single submitter
- PPID p.Gln290His Uncertain significance Single submitter
- PPID p.Gln7His Uncertain significance Single submitter
- PPID p.Glu27Ala Uncertain significance Single submitter
- PPID p.Gly190Arg Uncertain significance Single submitter
- PPID p.Gly25Glu Uncertain significance Single submitter
- PPID p.His67Tyr Uncertain significance Single submitter
- PPID p.His74Arg Uncertain significance Single submitter
- PPID p.Ile192Val Uncertain significance Single submitter
- PPID p.Ile219Leu Uncertain significance Single submitter
- PPID p.Ile271Thr Uncertain significance Single submitter
- PPID p.Ile336Met Uncertain significance Single submitter
- PPID p.Ile336Val Uncertain significance Single submitter
- PPID p.Ile77Thr Uncertain significance Single submitter
- PPID p.Leu220Ser Uncertain significance Single submitter
- PPID p.Lys353Gln Uncertain significance Single submitter
- PPID p.Met368Thr Uncertain significance Single submitter
- PPID p.Pro10Ser Uncertain significance Single submitter
- PPID p.Pro138Arg Uncertain significance Single submitter
- PPID p.Pro72Ser Uncertain significance Single submitter
- PPID p.Ser14Arg Uncertain significance Single submitter
- PPID p.Ser88Pro Uncertain significance Single submitter
- PPID p.Thr139Ala Uncertain significance Single submitter
- PPID p.Thr61Met Uncertain significance Single submitter
- PPID p.Val259Ala Uncertain significance Single submitter
- PPID p.Val41Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- PPID p.Arg312Cys Uncertain significance Single submitter
- PPID p.Arg31Gln Uncertain significance Single submitter
- PPID p.Arg49His Uncertain significance Single submitter
- PPID p.Asn306Asp Uncertain significance Single submitter
- PPID p.Asn91Ser Uncertain significance Single submitter
- PPID p.Cys275Gly Uncertain significance Single submitter
- PPID p.Gly129Ser Uncertain significance Single submitter
- PPID p.His202Pro Uncertain significance Single submitter
- PPID p.Ile98Val Uncertain significance Single submitter
- PPID p.Lys308Arg Uncertain significance Single submitter
- PPID p.Ser198Pro Uncertain significance Single submitter
- PPID p.Ser256Leu Uncertain significance Single submitter
- PPID p.Val167Gly Uncertain significance Single submitter
- PPID p.Val253Met Uncertain significance Single submitter
All PPID variants
Benign 2
- p.Val177Ile Multiple submitters
- c.333+9G>C Single submitter
Likely benign 4
- p.Asn288Asp Single submitter
- p.Asp359= Single submitter
- p.His146fs Single submitter
- p.Ile271Val Single submitter
Uncertain significance 53
- p.Ala299Pro Single submitter ⚠
- p.Ala326Thr Single submitter ⚠
- p.Ala356Thr Single submitter ⚠
- p.Arg125His Single submitter ⚠
- p.Arg312Cys Single submitter ⚠
- p.Arg312His Single submitter
- p.Arg31Gln Single submitter ⚠
- p.Arg49His Single submitter ⚠
- p.Arg49Pro Single submitter ⚠
- p.Arg75Leu Single submitter ⚠
- p.Asn306Asp Single submitter ⚠
- p.Asn91Ser Single submitter ⚠
- p.Asp105Gly Single submitter ⚠
- p.Asp188Gly Single submitter ⚠
- p.Cys181Gly Single submitter
- p.Cys275Gly Single submitter ⚠
- p.Cys52Phe Single submitter ⚠
- p.Gln290His Single submitter ⚠
- p.Gln7His Single submitter ⚠
- p.Glu27Ala Single submitter ⚠
- p.Gly129Ser Single submitter ⚠
- p.Gly190Arg Single submitter ⚠
- p.Gly25Glu Single submitter ⚠
- p.His202Pro Single submitter ⚠
- p.His67Tyr Single submitter ⚠
- p.His74Arg Single submitter ⚠
- p.His74Tyr Single submitter
- p.Ile192Val Single submitter ⚠
- p.Ile219Leu Single submitter ⚠
- p.Ile271Thr Single submitter ⚠
- p.Ile336Met Single submitter ⚠
- p.Ile336Val Single submitter ⚠
- p.Ile77Thr Single submitter ⚠
- p.Ile98Val Single submitter ⚠
- p.Leu220Ser Single submitter ⚠
- p.Leu348Pro Single submitter
- p.Lys308Arg Single submitter ⚠
- p.Lys353Gln Single submitter ⚠
- p.Met368Thr Single submitter ⚠
- p.Pro10Ser Single submitter ⚠
- p.Pro138Arg Single submitter ⚠
- p.Pro72Ser Single submitter ⚠
- p.Ser14Arg Single submitter ⚠
- p.Ser198Pro Single submitter ⚠
- p.Ser256Leu Single submitter ⚠
- p.Ser88Pro Single submitter ⚠
- p.Thr139Ala Single submitter ⚠
- p.Thr61Met Single submitter ⚠
- p.Thr93Ile Single submitter
- p.Val167Gly Single submitter ⚠
- p.Val253Met Single submitter ⚠
- p.Val259Ala Single submitter ⚠
- p.Val41Ile Single submitter ⚠