PNISR — 108 ClinVar variants
All ClinVar germline PNISR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →
2 Likely benign · 106 Uncertain significance
Full PNISR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 102
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 78
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PNISR p.Ala214Thr Uncertain significance Single submitter
- PNISR p.Ala274Thr Uncertain significance Single submitter
- PNISR p.Ala302Thr Uncertain significance Single submitter
- PNISR p.Arg237His Uncertain significance Single submitter
- PNISR p.Arg363His Uncertain significance Single submitter
- PNISR p.Arg420Gln Uncertain significance Single submitter
- PNISR p.Arg450Gly Uncertain significance Single submitter
- PNISR p.Arg544Cys Uncertain significance Single submitter
- PNISR p.Arg562Ile Uncertain significance Single submitter
- PNISR p.Arg570His Uncertain significance Single submitter
- PNISR p.Arg579Gly Uncertain significance Single submitter
- PNISR p.Arg617His Uncertain significance Single submitter
- PNISR p.Arg622Ser Uncertain significance Single submitter
- PNISR p.Arg630His Uncertain significance Single submitter
- PNISR p.Arg640His Uncertain significance Single submitter
- PNISR p.Arg646His Uncertain significance Single submitter
- PNISR p.Arg684Lys Uncertain significance Single submitter
- PNISR p.Arg782Gln Uncertain significance Single submitter
- PNISR p.Arg782Leu Uncertain significance Single submitter
- PNISR p.Asn155His Uncertain significance Single submitter
- PNISR p.Asn487Lys Uncertain significance Single submitter
- PNISR p.Asn585Ser Uncertain significance Single submitter
- PNISR p.Asn609Asp Uncertain significance Single submitter
- PNISR p.Asn609Ser Uncertain significance Single submitter
- PNISR p.Asn648Asp Uncertain significance Single submitter
- PNISR p.Asn75Ile Uncertain significance Single submitter
- PNISR p.Asn87Ser Uncertain significance Single submitter
- PNISR p.Asp106Glu Uncertain significance Single submitter
- PNISR p.Asp154Asn Uncertain significance Single submitter
- PNISR p.Asp625Asn Uncertain significance Single submitter
- PNISR p.Asp708Gly Uncertain significance Single submitter
- PNISR p.Asp735Ala Uncertain significance Single submitter
- PNISR p.Gln107His Uncertain significance Single submitter
- PNISR p.Gln505Glu Uncertain significance Single submitter
- PNISR p.Gln56Pro Uncertain significance Single submitter
- PNISR p.Gln645His Uncertain significance Single submitter
- PNISR p.Gln688His Uncertain significance Single submitter
- PNISR p.Glu252Gly Uncertain significance Single submitter
- PNISR p.Glu293Asp Uncertain significance Single submitter
- PNISR p.Glu454Gln Uncertain significance Single submitter
- PNISR p.Glu664Lys Uncertain significance Single submitter
- PNISR p.Glu687Gln Uncertain significance Single submitter
- PNISR p.Glu718Lys Uncertain significance Single submitter
- PNISR p.Gly384Arg Uncertain significance Single submitter
- PNISR p.His499Arg Uncertain significance Single submitter
- PNISR p.His77Leu Uncertain significance Single submitter
- PNISR p.Ile213Thr Uncertain significance Single submitter
- PNISR p.Ile566Val Uncertain significance Single submitter
- PNISR p.Ile732Arg Uncertain significance Single submitter
- PNISR p.Ile732Met Uncertain significance Single submitter
- PNISR p.Ile732Val Uncertain significance Single submitter
- PNISR p.Leu337Pro Uncertain significance Single submitter
- PNISR p.Leu711Phe Uncertain significance Single submitter
- PNISR p.Lys250Ile Uncertain significance Single submitter
- PNISR p.Lys287Arg Uncertain significance Single submitter
- PNISR p.Lys364Arg Uncertain significance Single submitter
- PNISR p.Lys678Arg Uncertain significance Single submitter
- PNISR p.Lys750Ile Uncertain significance Single submitter
- PNISR p.Met110Lys Uncertain significance Single submitter
- PNISR p.Met117Val Uncertain significance Single submitter
- PNISR p.Met340Val Uncertain significance Single submitter
- PNISR p.Met455Ile Uncertain significance Single submitter
- PNISR p.Met455Val Uncertain significance Single submitter
- PNISR p.Met96Val Uncertain significance Single submitter
- PNISR p.Pro104Thr Uncertain significance Single submitter
- PNISR p.Pro122Leu Uncertain significance Single submitter
- PNISR p.Pro194Leu Uncertain significance Single submitter
- PNISR p.Pro92Ser Uncertain significance Single submitter
- PNISR p.Ser48Leu Uncertain significance Single submitter
- PNISR p.Ser514Gly Uncertain significance Single submitter
- PNISR p.Ser525Gly Uncertain significance Single submitter
- PNISR p.Ser632Asn Uncertain significance Single submitter
- PNISR p.Ser653Gly Uncertain significance Single submitter
- PNISR p.Ser748Asn Uncertain significance Single submitter
- PNISR p.Ser787Pro Uncertain significance Single submitter
- PNISR p.Thr297Ala Uncertain significance Single submitter
- PNISR p.Thr366Met Uncertain significance Single submitter
- PNISR p.Val589Ala Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- PNISR p.Ala374Thr Uncertain significance Single submitter
- PNISR p.Arg210Cys Uncertain significance Single submitter
- PNISR p.Arg210His Uncertain significance Single submitter
- PNISR p.Arg606Ile Uncertain significance Single submitter
- PNISR p.Arg608Gln Uncertain significance Single submitter
- PNISR p.Arg614Gln Uncertain significance Single submitter
- PNISR p.Arg637Gln Uncertain significance Single submitter
- PNISR p.Arg646Cys Uncertain significance Single submitter
- PNISR p.Arg671Gly Uncertain significance Single submitter
- PNISR p.Arg780Gln Uncertain significance Single submitter
- PNISR p.Arg796Cys Uncertain significance Single submitter
- PNISR p.Asn143Lys Uncertain significance Single submitter
- PNISR p.Asp360His Uncertain significance Single submitter
- PNISR p.Asp360Val Uncertain significance Single submitter
- PNISR p.Pro175Leu Uncertain significance Single submitter
- PNISR p.Pro188Leu Uncertain significance Single submitter
- PNISR p.Ser131Ile Uncertain significance Single submitter
- PNISR p.Ser559Cys Uncertain significance Single submitter
- PNISR p.Ser597Cys Uncertain significance Single submitter
- PNISR p.Ser613Phe Uncertain significance Single submitter
- PNISR p.Ser726Cys Uncertain significance Single submitter
- PNISR p.Ser726Tyr Uncertain significance Single submitter
- PNISR p.Ser754Pro Uncertain significance Single submitter
- PNISR p.Ser756Cys Uncertain significance Single submitter
All PNISR variants
Likely benign 2
- p.Leu346= Single submitter
- p.Val784Met Single submitter
Uncertain significance 106
- p.Ala214Thr Single submitter ⚠
- p.Ala274Thr Single submitter ⚠
- p.Ala302Thr Single submitter ⚠
- p.Ala374Thr Single submitter ⚠
- p.Ala378fs Single submitter
- p.Arg210Cys Single submitter ⚠
- p.Arg210His Single submitter ⚠
- p.Arg237His Single submitter ⚠
- p.Arg260Cys Single submitter
- p.Arg363His Single submitter ⚠
- p.Arg420Gln Single submitter ⚠
- p.Arg450Gly Single submitter ⚠
- p.Arg544Cys Single submitter ⚠
- p.Arg562Ile Single submitter ⚠
- p.Arg570His Single submitter ⚠
- p.Arg579Gly Single submitter ⚠
- p.Arg606Ile Single submitter ⚠
- p.Arg608Gln Single submitter ⚠
- p.Arg614Gln Single submitter ⚠
- p.Arg617His Single submitter ⚠
- p.Arg622Ser Single submitter ⚠
- p.Arg630His Single submitter ⚠
- p.Arg637Gln Single submitter ⚠
- p.Arg640His Single submitter ⚠
- p.Arg646Cys Single submitter ⚠
- p.Arg646His Single submitter ⚠
- p.Arg671Gly Single submitter ⚠
- p.Arg684Lys Single submitter ⚠
- p.Arg780Gln Single submitter ⚠
- p.Arg782Gln Single submitter ⚠
- p.Arg782Leu Single submitter ⚠
- p.Arg796Cys Single submitter ⚠
- p.Asn143Lys Single submitter ⚠
- p.Asn155His Single submitter ⚠
- p.Asn487Lys Single submitter ⚠
- p.Asn585Ser Single submitter ⚠
- p.Asn609Asp Single submitter ⚠
- p.Asn609Ser Single submitter ⚠
- p.Asn648Asp Single submitter ⚠
- p.Asn75Ile Single submitter ⚠
- p.Asn87Ser Single submitter ⚠
- p.Asp106Glu Single submitter ⚠
- p.Asp154Asn Single submitter ⚠
- p.Asp360His Single submitter ⚠
- p.Asp360Val Single submitter ⚠
- p.Asp625Asn Single submitter ⚠
- p.Asp708Gly Single submitter ⚠
- p.Asp735Ala Single submitter ⚠
- p.Gln107His Single submitter ⚠
- p.Gln505Glu Single submitter ⚠
- p.Gln56Pro Single submitter ⚠
- p.Gln645His Single submitter ⚠
- p.Gln688His Single submitter ⚠
- p.Glu252Gly Single submitter ⚠
- p.Glu293Asp Single submitter ⚠
- p.Glu454Gln Single submitter ⚠
- p.Glu664Lys Single submitter ⚠
- p.Glu687Gln Single submitter ⚠
- p.Glu718Lys Single submitter ⚠
- p.Gly384Arg Single submitter ⚠
- p.His499Arg Single submitter ⚠
- p.His77Leu Single submitter ⚠
- p.Ile213Thr Single submitter ⚠
- p.Ile566Val Single submitter ⚠
- p.Ile732Arg Single submitter ⚠
- p.Ile732Met Single submitter ⚠
- p.Ile732Val Single submitter ⚠
- p.Leu337Pro Single submitter ⚠
- p.Leu711Phe Single submitter ⚠
- p.Lys250Ile Single submitter ⚠
- p.Lys287Arg Single submitter ⚠
- p.Lys364Arg Single submitter ⚠
- p.Lys678Arg Single submitter ⚠
- p.Lys694fs Single submitter
- p.Lys750Ile Single submitter ⚠
- p.Met110Lys Single submitter ⚠
- p.Met117Val Single submitter ⚠
- p.Met340Val Single submitter ⚠
- p.Met455Ile Single submitter ⚠
- p.Met455Val Single submitter ⚠
- p.Met96Val Single submitter ⚠
- p.Pro104Thr Single submitter ⚠
- p.Pro122Leu Single submitter ⚠
- p.Pro175Leu Single submitter ⚠
- p.Pro188Leu Single submitter ⚠
- p.Pro194Leu Single submitter ⚠
- p.Pro92Ser Single submitter ⚠
- p.Ser131Ile Single submitter ⚠
- p.Ser203Ter Single submitter
- p.Ser48Leu Single submitter ⚠
- p.Ser514Gly Single submitter ⚠
- p.Ser525Gly Single submitter ⚠
- p.Ser559Cys Single submitter ⚠
- p.Ser597Cys Single submitter ⚠
- p.Ser613Phe Single submitter ⚠
- p.Ser632Asn Single submitter ⚠
- p.Ser653Gly Single submitter ⚠
- p.Ser726Cys Single submitter ⚠
- p.Ser726Tyr Single submitter ⚠
- p.Ser748Asn Single submitter ⚠
- p.Ser754Pro Single submitter ⚠
- p.Ser756Cys Single submitter ⚠
- p.Ser787Pro Single submitter ⚠
- p.Thr297Ala Single submitter ⚠
- p.Thr366Met Single submitter ⚠
- p.Val589Ala Single submitter ⚠