CSN2 — 45 ClinVar variants
All ClinVar germline CSN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
8 Likely benign · 37 Uncertain significance
Full CSN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSN2 p.Ala162Thr Uncertain significance Single submitter
- CSN2 p.Ala85Pro Uncertain significance Single submitter
- CSN2 p.Arg189Lys Uncertain significance Single submitter
- CSN2 p.Asp106Asn Uncertain significance Single submitter
- CSN2 p.Glu20Asp Uncertain significance Single submitter
- CSN2 p.Gly112Arg Uncertain significance Single submitter
- CSN2 p.His140Arg Uncertain significance Single submitter
- CSN2 p.His140Asn Uncertain significance Single submitter
- CSN2 p.His140Tyr Uncertain significance Single submitter
- CSN2 p.Ile179Met Uncertain significance Single submitter
- CSN2 p.Ile55Thr Uncertain significance Single submitter
- CSN2 p.Leu203Ile Uncertain significance Single submitter
- CSN2 p.Leu4Phe Uncertain significance Single submitter
- CSN2 p.Lys33Glu Uncertain significance Single submitter
- CSN2 p.Phe126Ser Uncertain significance Single submitter
- CSN2 p.Pro142Ser Uncertain significance Single submitter
- CSN2 p.Pro165Ala Uncertain significance Single submitter
- CSN2 p.Pro167Thr Uncertain significance Single submitter
- CSN2 p.Ser225Thr Uncertain significance Single submitter
- CSN2 p.Thr122Arg Uncertain significance Single submitter
- CSN2 p.Thr214Ser Uncertain significance Single submitter
- CSN2 p.Trp169Arg Uncertain significance Single submitter
- CSN2 p.Trp169Ser Uncertain significance Single submitter
- CSN2 p.Tyr66His Uncertain significance Single submitter
- CSN2 p.Tyr66Ser Uncertain significance Single submitter
- CSN2 p.Val114Leu Uncertain significance Single submitter
- CSN2 p.Val220Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CSN2 p.Ala190Gly Uncertain significance Single submitter
- CSN2 p.Gln194Arg Uncertain significance Single submitter
- CSN2 p.Ile55Met Uncertain significance Single submitter
- CSN2 p.Ile65Asn Uncertain significance Single submitter
- CSN2 p.Pro144Ser Uncertain significance Single submitter
- CSN2 p.Pro158Ser Uncertain significance Single submitter
- CSN2 p.Pro180Ser Uncertain significance Single submitter
- CSN2 p.Pro73Thr Uncertain significance Single submitter
- CSN2 p.Pro87Thr Uncertain significance Single submitter
- CSN2 p.Ser25Arg Uncertain significance Single submitter
- CSN2 p.Thr122Met Likely benign Single submitter
- CSN2 p.Val93Phe Likely benign Single submitter
All CSN2 variants
Likely benign 8
- p.His221Tyr Single submitter
- p.His51= Single submitter
- p.His51Arg Single submitter
- p.Phe126Leu Single submitter
- p.Pro167Ser Single submitter
- p.Thr122Met Single submitter ⚠
- p.Val39Phe Single submitter
- p.Val93Phe Single submitter ⚠
Uncertain significance 37
- p.Ala162Thr Single submitter ⚠
- p.Ala190Gly Single submitter ⚠
- p.Ala85Pro Single submitter ⚠
- p.Arg189Lys Single submitter ⚠
- p.Asp106Asn Single submitter ⚠
- p.Gln194Arg Single submitter ⚠
- p.Glu20Asp Single submitter ⚠
- p.Gly112Arg Single submitter ⚠
- p.His140Arg Single submitter ⚠
- p.His140Asn Single submitter ⚠
- p.His140Tyr Single submitter ⚠
- p.Ile179Met Single submitter ⚠
- p.Ile55Met Single submitter ⚠
- p.Ile55Thr Single submitter ⚠
- p.Ile65Asn Single submitter ⚠
- p.Leu203Ile Single submitter ⚠
- p.Leu4Phe Single submitter ⚠
- p.Lys33Glu Single submitter ⚠
- p.Phe126Ser Single submitter ⚠
- p.Pro142Ser Single submitter ⚠
- p.Pro144Ser Single submitter ⚠
- p.Pro158Ser Single submitter ⚠
- p.Pro165Ala Single submitter ⚠
- p.Pro167Thr Single submitter ⚠
- p.Pro180Ser Single submitter ⚠
- p.Pro73Thr Single submitter ⚠
- p.Pro87Thr Single submitter ⚠
- p.Ser225Thr Single submitter ⚠
- p.Ser25Arg Single submitter ⚠
- p.Thr122Arg Single submitter ⚠
- p.Thr214Ser Single submitter ⚠
- p.Trp169Arg Single submitter ⚠
- p.Trp169Ser Single submitter ⚠
- p.Tyr66His Single submitter ⚠
- p.Tyr66Ser Single submitter ⚠
- p.Val114Leu Single submitter ⚠
- p.Val220Ile Single submitter ⚠