PIR — 32 ClinVar variants
All ClinVar germline PIR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
4 Benign · 28 Uncertain significance
Full PIR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PIR p.Ala274Thr Uncertain significance Single submitter
- PIR p.Arg14Gln Uncertain significance Single submitter
- PIR p.Arg25Gln Uncertain significance Single submitter
- PIR p.Arg97Gln Uncertain significance Single submitter
- PIR p.Asn273Asp Uncertain significance Single submitter
- PIR p.Asp145Asn Uncertain significance Single submitter
- PIR p.Asp206Asn Uncertain significance Single submitter
- PIR p.Asp89Asn Uncertain significance Single submitter
- PIR p.Gly71Ser Uncertain significance Single submitter
- PIR p.His101Arg Uncertain significance Single submitter
- PIR p.His237Pro Uncertain significance Single submitter
- PIR p.Ile159Met Uncertain significance Single submitter
- PIR p.Ile186Val Uncertain significance Single submitter
- PIR p.Ile212Val Uncertain significance Single submitter
- PIR p.Leu33Ser Uncertain significance Single submitter
- PIR p.Leu36Met Uncertain significance Single submitter
- PIR p.Pro142Ser Uncertain significance Single submitter
- PIR p.Pro214Thr Uncertain significance Single submitter
- PIR p.Ser27Asn Uncertain significance Single submitter
- PIR p.Thr196Met Uncertain significance Single submitter
- PIR p.Thr283Ser Uncertain significance Single submitter
- PIR p.Tyr171Cys Uncertain significance Single submitter
- PIR p.Val226Leu Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All PIR variants
Benign 4
- p.Asp232Asn Multiple submitters
- p.Val228Ala Multiple submitters
- p.Arg97Trp Single submitter
- p.Cys106Phe Single submitter
Uncertain significance 28
- p.Ala274Thr Single submitter ⚠
- p.Arg14Gln Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg97Gln Single submitter ⚠
- p.Asn273Asp Single submitter ⚠
- p.Asp145Asn Single submitter ⚠
- p.Asp206Asn Single submitter ⚠
- p.Asp89Asn Single submitter ⚠
- p.Glu133Gly Single submitter ⚠
- p.Gly223Asp Single submitter
- p.Gly71Ser Single submitter ⚠
- p.His101Arg Single submitter ⚠
- p.His237Pro Single submitter ⚠
- p.Ile139fs Single submitter
- p.Ile159Met Single submitter ⚠
- p.Ile186Val Single submitter ⚠
- p.Ile212Val Single submitter ⚠
- p.Leu12His Single submitter ⚠
- p.Leu33Ser Single submitter ⚠
- p.Leu36Met Single submitter ⚠
- p.Pro142Ser Single submitter ⚠
- p.Pro187Ser Single submitter ⚠
- p.Pro214Thr Single submitter ⚠
- p.Ser27Asn Single submitter ⚠
- p.Thr196Met Single submitter ⚠
- p.Thr283Ser Single submitter ⚠
- p.Tyr171Cys Single submitter ⚠
- p.Val226Leu Single submitter ⚠