CSRNP1 — 101 ClinVar variants
All ClinVar germline CSRNP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →
6 Likely benign · 95 Uncertain significance
Full CSRNP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 96
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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSRNP1 p.Ala316Val Uncertain significance Single submitter
- CSRNP1 p.Ala392Thr Uncertain significance Single submitter
- CSRNP1 p.Ala564Pro Uncertain significance Single submitter
- CSRNP1 p.Ala564Thr Uncertain significance Single submitter
- CSRNP1 p.Arg106His Uncertain significance Single submitter
- CSRNP1 p.Arg212Lys Uncertain significance Single submitter
- CSRNP1 p.Arg281His Uncertain significance Single submitter
- CSRNP1 p.Arg31Pro Uncertain significance Single submitter
- CSRNP1 p.Arg393His Uncertain significance Single submitter
- CSRNP1 p.Arg59Cys Uncertain significance Single submitter
- CSRNP1 p.Asp173Gly Uncertain significance Single submitter
- CSRNP1 p.Asp220His Uncertain significance Single submitter
- CSRNP1 p.Asp389Asn Uncertain significance Single submitter
- CSRNP1 p.Asp503Gly Uncertain significance Single submitter
- CSRNP1 p.Gln200Glu Uncertain significance Single submitter
- CSRNP1 p.Glu165Ala Uncertain significance Single submitter
- CSRNP1 p.Glu248Ala Uncertain significance Single submitter
- CSRNP1 p.Glu311Gly Uncertain significance Single submitter
- CSRNP1 p.Glu342Val Uncertain significance Single submitter
- CSRNP1 p.Gly190Asp Uncertain significance Single submitter
- CSRNP1 p.Gly82Ala Uncertain significance Single submitter
- CSRNP1 p.Ile428Leu Uncertain significance Single submitter
- CSRNP1 p.Ile428Val Uncertain significance Single submitter
- CSRNP1 p.Leu420Phe Uncertain significance Single submitter
- CSRNP1 p.Leu56Pro Uncertain significance Single submitter
- CSRNP1 p.Leu70Pro Uncertain significance Single submitter
- CSRNP1 p.Met151Thr Uncertain significance Single submitter
- CSRNP1 p.Met584Ile Uncertain significance Single submitter
- CSRNP1 p.Phe537Leu Uncertain significance Single submitter
- CSRNP1 p.Phe575Ser Uncertain significance Single submitter
- CSRNP1 p.Pro267His Uncertain significance Single submitter
- CSRNP1 p.Pro267Thr Uncertain significance Single submitter
- CSRNP1 p.Pro338Leu Uncertain significance Single submitter
- CSRNP1 p.Pro372Leu Uncertain significance Single submitter
- CSRNP1 p.Pro384Ala Uncertain significance Single submitter
- CSRNP1 p.Pro384Ser Uncertain significance Single submitter
- CSRNP1 p.Pro562Leu Uncertain significance Single submitter
- CSRNP1 p.Pro562Ser Uncertain significance Single submitter
- CSRNP1 p.Ser118Asn Uncertain significance Single submitter
- CSRNP1 p.Ser451Leu Uncertain significance Single submitter
- CSRNP1 p.Ser515Thr Uncertain significance Single submitter
- CSRNP1 p.Thr298Ala Uncertain significance Single submitter
- CSRNP1 p.Trp43Arg Uncertain significance Single submitter
- CSRNP1 p.Tyr514Phe Uncertain significance Single submitter
- CSRNP1 p.Val171Gly Uncertain significance Single submitter
- CSRNP1 p.Val196Leu Uncertain significance Single submitter
- CSRNP1 p.Val386Asp Uncertain significance Single submitter
- CSRNP1 p.Val386Ile Uncertain significance Single submitter
- CSRNP1 p.Val414Leu Uncertain significance Single submitter
Predictors split 47
The independent predictors disagree with each other — read with care.
- CSRNP1 p.Pro55Thr Uncertain significance Multiple submitters
- CSRNP1 p.Ala178Asp Uncertain significance Single submitter
- CSRNP1 p.Arg116Cys Uncertain significance Single submitter
- CSRNP1 p.Arg121Cys Uncertain significance Single submitter
- CSRNP1 p.Arg122Cys Uncertain significance Single submitter
- CSRNP1 p.Arg136Trp Uncertain significance Single submitter
- CSRNP1 p.Arg141Cys Uncertain significance Single submitter
- CSRNP1 p.Arg141His Uncertain significance Single submitter
- CSRNP1 p.Arg143Cys Uncertain significance Single submitter
- CSRNP1 p.Arg192Trp Uncertain significance Single submitter
- CSRNP1 p.Arg205Trp Uncertain significance Single submitter
- CSRNP1 p.Arg208Gln Uncertain significance Single submitter
- CSRNP1 p.Arg221Trp Uncertain significance Single submitter
- CSRNP1 p.Arg31His Uncertain significance Single submitter
- CSRNP1 p.Arg393Cys Uncertain significance Single submitter
- CSRNP1 p.Arg75Gln Uncertain significance Single submitter
- CSRNP1 p.Arg77Leu Uncertain significance Single submitter
- CSRNP1 p.Arg80Cys Uncertain significance Single submitter
- CSRNP1 p.Arg80His Uncertain significance Single submitter
- CSRNP1 p.Arg83Cys Uncertain significance Single submitter
- CSRNP1 p.Arg83His Uncertain significance Single submitter
- CSRNP1 p.Asp246His Uncertain significance Single submitter
- CSRNP1 p.Glu194Lys Uncertain significance Single submitter
- CSRNP1 p.Glu307Lys Uncertain significance Single submitter
- CSRNP1 p.Glu342Lys Uncertain significance Single submitter
- CSRNP1 p.Glu46Lys Uncertain significance Single submitter
- CSRNP1 p.Gly3Val Uncertain significance Single submitter
- CSRNP1 p.His263Tyr Uncertain significance Single submitter
- CSRNP1 p.Ile294Phe Uncertain significance Single submitter
- CSRNP1 p.Leu144Phe Uncertain significance Single submitter
- CSRNP1 p.Leu152Pro Uncertain significance Single submitter
- CSRNP1 p.Leu156Val Uncertain significance Single submitter
- CSRNP1 p.Lys258Glu Uncertain significance Single submitter
- CSRNP1 p.Met261Ile Uncertain significance Single submitter
- CSRNP1 p.Ser179Tyr Uncertain significance Single submitter
- CSRNP1 p.Ser18Leu Likely benign Single submitter
- CSRNP1 p.Ser25Tyr Uncertain significance Single submitter
- CSRNP1 p.Ser26Thr Uncertain significance Single submitter
- CSRNP1 p.Ser349Asn Uncertain significance Single submitter
- CSRNP1 p.Ser355Cys Uncertain significance Single submitter
- CSRNP1 p.Ser400Cys Uncertain significance Single submitter
- CSRNP1 p.Ser477Asn Uncertain significance Single submitter
- CSRNP1 p.Thr264Ile Uncertain significance Single submitter
- CSRNP1 p.Thr441Ile Uncertain significance Single submitter
- CSRNP1 p.Thr68Ile Uncertain significance Single submitter
- CSRNP1 p.Thr90Ile Uncertain significance Single submitter
- CSRNP1 p.Val91Ile Uncertain significance Single submitter
All CSRNP1 variants
Likely benign 6
- p.Leu478Phe Multiple submitters
- p.Arg122His Single submitter
- p.Asn416Ser Single submitter
- p.Pro588Leu Single submitter
- p.Ser18Leu Single submitter ⚠
- p.Thr578Ala Single submitter
Uncertain significance 95
- p.Pro55Thr Multiple submitters ⚠
- p.Ala178Asp Single submitter ⚠
- p.Ala316Val Single submitter ⚠
- p.Ala392Thr Single submitter ⚠
- p.Ala564Pro Single submitter ⚠
- p.Ala564Thr Single submitter ⚠
- p.Arg106His Single submitter ⚠
- p.Arg116Cys Single submitter ⚠
- p.Arg121Cys Single submitter ⚠
- p.Arg122Cys Single submitter ⚠
- p.Arg136Trp Single submitter ⚠
- p.Arg141Cys Single submitter ⚠
- p.Arg141His Single submitter ⚠
- p.Arg143Cys Single submitter ⚠
- p.Arg192Trp Single submitter ⚠
- p.Arg205Trp Single submitter ⚠
- p.Arg208Gln Single submitter ⚠
- p.Arg212Lys Single submitter ⚠
- p.Arg221Trp Single submitter ⚠
- p.Arg281His Single submitter ⚠
- p.Arg31His Single submitter ⚠
- p.Arg31Pro Single submitter ⚠
- p.Arg393Cys Single submitter ⚠
- p.Arg393His Single submitter ⚠
- p.Arg59Cys Single submitter ⚠
- p.Arg75Gln Single submitter ⚠
- p.Arg77Leu Single submitter ⚠
- p.Arg80Cys Single submitter ⚠
- p.Arg80His Single submitter ⚠
- p.Arg83Cys Single submitter ⚠
- p.Arg83His Single submitter ⚠
- p.Asp173Gly Single submitter ⚠
- p.Asp220His Single submitter ⚠
- p.Asp246His Single submitter ⚠
- p.Asp389Asn Single submitter ⚠
- p.Asp503Gly Single submitter ⚠
- p.Gln200Glu Single submitter ⚠
- p.Glu165Ala Single submitter ⚠
- p.Glu194Lys Single submitter ⚠
- p.Glu248Ala Single submitter ⚠
- p.Glu307Lys Single submitter ⚠
- p.Glu311Gly Single submitter ⚠
- p.Glu342Lys Single submitter ⚠
- p.Glu342Val Single submitter ⚠
- p.Glu46Lys Single submitter ⚠
- p.Gly190Asp Single submitter ⚠
- p.Gly3Val Single submitter ⚠
- p.Gly82Ala Single submitter ⚠
- p.His263Tyr Single submitter ⚠
- p.Ile294Phe Single submitter ⚠
- p.Ile428Leu Single submitter ⚠
- p.Ile428Val Single submitter ⚠
- p.Leu144Phe Single submitter ⚠
- p.Leu152Pro Single submitter ⚠
- p.Leu156Val Single submitter ⚠
- p.Leu420Phe Single submitter ⚠
- p.Leu56Pro Single submitter ⚠
- p.Leu70Pro Single submitter ⚠
- p.Lys258Glu Single submitter ⚠
- p.Met151Thr Single submitter ⚠
- p.Met261Ile Single submitter ⚠
- p.Met584Ile Single submitter ⚠
- p.Phe537Leu Single submitter ⚠
- p.Phe575Ser Single submitter ⚠
- p.Pro267His Single submitter ⚠
- p.Pro267Thr Single submitter ⚠
- p.Pro338Leu Single submitter ⚠
- p.Pro372Leu Single submitter ⚠
- p.Pro384Ala Single submitter ⚠
- p.Pro384Ser Single submitter ⚠
- p.Pro562Leu Single submitter ⚠
- p.Pro562Ser Single submitter ⚠
- p.Ser118Asn Single submitter ⚠
- p.Ser179Tyr Single submitter ⚠
- p.Ser25Tyr Single submitter ⚠
- p.Ser26Thr Single submitter ⚠
- p.Ser349Asn Single submitter ⚠
- p.Ser355Cys Single submitter ⚠
- p.Ser400Cys Single submitter ⚠
- p.Ser451Leu Single submitter ⚠
- p.Ser477Asn Single submitter ⚠
- p.Ser515Thr Single submitter ⚠
- p.Thr264Ile Single submitter ⚠
- p.Thr298Ala Single submitter ⚠
- p.Thr441Ile Single submitter ⚠
- p.Thr68Ile Single submitter ⚠
- p.Thr90Ile Single submitter ⚠
- p.Trp43Arg Single submitter ⚠
- p.Tyr514Phe Single submitter ⚠
- p.Val171Gly Single submitter ⚠
- p.Val196Leu Single submitter ⚠
- p.Val386Asp Single submitter ⚠
- p.Val386Ile Single submitter ⚠
- p.Val414Leu Single submitter ⚠
- p.Val91Ile Single submitter ⚠