CNN2 — 51 ClinVar variants
All ClinVar germline CNN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
2 Pathogenic · 1 Likely benign · 48 Uncertain significance
Full CNN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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.
- CNN2 p.Ala126Ser Uncertain significance Single submitter
- CNN2 p.Arg266Gly Uncertain significance Single submitter
- CNN2 p.Asn81Ser Uncertain significance Single submitter
- CNN2 p.Asp110Glu Uncertain significance Single submitter
- CNN2 p.Asp281Asn Uncertain significance Single submitter
- CNN2 p.Asp289Tyr Uncertain significance Single submitter
- CNN2 p.Glu298Asp Uncertain significance Single submitter
- CNN2 p.Glu298Gln Uncertain significance Single submitter
- CNN2 p.Glu86Lys Uncertain significance Single submitter
- CNN2 p.Gly13Arg Uncertain significance Single submitter
- CNN2 p.Gly13Glu Uncertain significance Single submitter
- CNN2 p.Gly47Val Uncertain significance Single submitter
- CNN2 p.Ile142Val Uncertain significance Single submitter
- CNN2 p.Ile92Ser Uncertain significance Single submitter
- CNN2 p.Met201Thr Uncertain significance Single submitter
- CNN2 p.Met201Val Uncertain significance Single submitter
- CNN2 p.Pro293Leu Uncertain significance Single submitter
- CNN2 p.Pro300Ser Uncertain significance Single submitter
- CNN2 p.Thr287Ser Uncertain significance Single submitter
- CNN2 p.Tyr303His Uncertain significance Single submitter
- CNN2 p.Val144Ile Uncertain significance Single submitter
- CNN2 p.Val165Ile Uncertain significance Single submitter
- CNN2 p.Val296Ile Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- CNN2 p.Ala126Thr Uncertain significance Single submitter
- CNN2 p.Ala161Thr Uncertain significance Single submitter
- CNN2 p.Arg227Trp Uncertain significance Single submitter
- CNN2 p.Arg35Cys Uncertain significance Single submitter
- CNN2 p.Arg35His Uncertain significance Single submitter
- CNN2 p.Arg77His Uncertain significance Single submitter
- CNN2 p.Asn256Ile Uncertain significance Single submitter
- CNN2 p.Asp155Asn Uncertain significance Single submitter
- CNN2 p.Asp156Asn Uncertain significance Single submitter
- CNN2 p.Gln260Arg Uncertain significance Single submitter
- CNN2 p.Gln68Arg Uncertain significance Single submitter
- CNN2 p.Glu39Lys Uncertain significance Single submitter
- CNN2 p.Gly129Arg Uncertain significance Single submitter
- CNN2 p.Gly286Asp Likely benign Single submitter
- CNN2 p.Ile268Leu Uncertain significance Single submitter
- CNN2 p.Ile38Met Uncertain significance Single submitter
- CNN2 p.Lys239Asn Uncertain significance Single submitter
- CNN2 p.Met117Val Uncertain significance Single submitter
- CNN2 p.Met64Ile Uncertain significance Single submitter
- CNN2 p.Pro200Thr Uncertain significance Single submitter
- CNN2 p.Pro69Leu Uncertain significance Single submitter
- CNN2 p.Ser244Phe Uncertain significance Single submitter
- CNN2 p.Thr252Met Uncertain significance Single submitter
- CNN2 p.Tyr231Cys Uncertain significance Single submitter
- CNN2 p.Tyr309Cys Uncertain significance Single submitter
- CNN2 p.Val72Ile Uncertain significance Single submitter
All CNN2 variants
Pathogenic 2
- p.Arg266Gln No assertion criteria Pulmonary artery atresia
- p.Gly263Ser No assertion criteria Pulmonary artery atresia
Likely benign 1
- p.Gly286Asp Single submitter ⚠
Uncertain significance 48
- p.Ala126Ser Single submitter ⚠
- p.Ala126Thr Single submitter ⚠
- p.Ala161Thr Single submitter ⚠
- p.Arg227Trp Single submitter ⚠
- p.Arg266Gly Single submitter ⚠
- p.Arg35Cys Single submitter ⚠
- p.Arg35His Single submitter ⚠
- p.Arg77His Single submitter ⚠
- p.Asn256Ile Single submitter ⚠
- p.Asn81Ser Single submitter ⚠
- p.Asp110Glu Single submitter ⚠
- p.Asp155Asn Single submitter ⚠
- p.Asp156Asn Single submitter ⚠
- p.Asp281Asn Single submitter ⚠
- p.Asp289Tyr Single submitter ⚠
- p.Gln260Arg Single submitter ⚠
- p.Gln68Arg Single submitter ⚠
- p.Glu298Asp Single submitter ⚠
- p.Glu298Gln Single submitter ⚠
- p.Glu39Lys Single submitter ⚠
- p.Glu86Lys Single submitter ⚠
- p.Gly129Arg Single submitter ⚠
- p.Gly13Arg Single submitter ⚠
- p.Gly13Glu Single submitter ⚠
- p.Gly47Val Single submitter ⚠
- p.Ile142Val Single submitter ⚠
- p.Ile268Leu Single submitter ⚠
- p.Ile38Met Single submitter ⚠
- p.Ile92Ser Single submitter ⚠
- p.Lys239Asn Single submitter ⚠
- p.Met117Val Single submitter ⚠
- p.Met201Thr Single submitter ⚠
- p.Met201Val Single submitter ⚠
- p.Met64Ile Single submitter ⚠
- p.Pro200Thr Single submitter ⚠
- p.Pro293Leu Single submitter ⚠
- p.Pro300Ser Single submitter ⚠
- p.Pro69Leu Single submitter ⚠
- p.Ser244Phe Single submitter ⚠
- p.Thr252Met Single submitter ⚠
- p.Thr287Ser Single submitter ⚠
- p.Tyr231Cys Single submitter ⚠
- p.Tyr303His Single submitter ⚠
- p.Tyr309Cys Single submitter ⚠
- p.Val144Ile Single submitter ⚠
- p.Val165Ile Single submitter ⚠
- p.Val296Ile Single submitter ⚠
- p.Val72Ile Single submitter ⚠