CNN1 — 56 ClinVar variants
All ClinVar germline CNN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
2 Likely benign · 54 Uncertain significance
Full CNN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CNN1 p.Val243Ile Uncertain significance Multiple submitters
- CNN1 p.Ala290Val Uncertain significance Single submitter
- CNN1 p.Ala297Thr Uncertain significance Single submitter
- CNN1 p.Arg158Lys Uncertain significance Single submitter
- CNN1 p.Arg185Trp Uncertain significance Single submitter
- CNN1 p.Arg186Cys Uncertain significance Single submitter
- CNN1 p.Arg226Gln Uncertain significance Single submitter
- CNN1 p.Arg226Trp Uncertain significance Single submitter
- CNN1 p.Arg256Gln Uncertain significance Single submitter
- CNN1 p.Arg30Gln Uncertain significance Single submitter
- CNN1 p.Asn242Ser Uncertain significance Single submitter
- CNN1 p.Asp104Asn Uncertain significance Single submitter
- CNN1 p.Asp104Val Uncertain significance Single submitter
- CNN1 p.Glu17Lys Uncertain significance Single submitter
- CNN1 p.Glu31Gln Uncertain significance Single submitter
- CNN1 p.Gly218Asp Uncertain significance Single submitter
- CNN1 p.Gly257Asp Uncertain significance Single submitter
- CNN1 p.His289Asp Uncertain significance Single submitter
- CNN1 p.His5Gln Uncertain significance Single submitter
- CNN1 p.His5Tyr Uncertain significance Single submitter
- CNN1 p.Ile105Val Uncertain significance Single submitter
- CNN1 p.Ile163Val Uncertain significance Single submitter
- CNN1 p.Leu245Gln Uncertain significance Single submitter
- CNN1 p.Lys132Glu Uncertain significance Single submitter
- CNN1 p.Lys137Met Uncertain significance Single submitter
- CNN1 p.Lys172Asn Uncertain significance Single submitter
- CNN1 p.Lys97Asn Uncertain significance Single submitter
- CNN1 p.Pro154Gln Uncertain significance Single submitter
- CNN1 p.Tyr294His Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- CNN1 p.Ala145Thr Uncertain significance Single submitter
- CNN1 p.Arg150Gln Uncertain significance Single submitter
- CNN1 p.Arg185Gln Uncertain significance Single submitter
- CNN1 p.Arg256Trp Uncertain significance Single submitter
- CNN1 p.Arg30Trp Uncertain significance Single submitter
- CNN1 p.Arg35Lys Uncertain significance Single submitter
- CNN1 p.Arg44Ser Uncertain significance Single submitter
- CNN1 p.Asn49Asp Uncertain significance Single submitter
- CNN1 p.Asp190Asn Uncertain significance Single submitter
- CNN1 p.Asp27Asn Uncertain significance Single submitter
- CNN1 p.Glu159Lys Uncertain significance Single submitter
- CNN1 p.Gly234Arg Uncertain significance Single submitter
- CNN1 p.Gly40Ala Uncertain significance Single submitter
- CNN1 p.Gly43Ser Uncertain significance Single submitter
- CNN1 p.Gly53Cys Uncertain significance Single submitter
- CNN1 p.Gly70Ala Uncertain significance Single submitter
- CNN1 p.Ile163Thr Uncertain significance Single submitter
- CNN1 p.Lys251Arg Uncertain significance Single submitter
- CNN1 p.Lys66Gln Uncertain significance Single submitter
- CNN1 p.Pro231Leu Uncertain significance Single submitter
- CNN1 p.Ser2Phe Uncertain significance Single submitter
- CNN1 p.Thr170Asn Uncertain significance Single submitter
- CNN1 p.Thr180Met Uncertain significance Single submitter
- CNN1 p.Tyr268Cys Uncertain significance Single submitter
- CNN1 p.Tyr98Phe Uncertain significance Single submitter
All CNN1 variants
Likely benign 2
- p.Ala290Thr Single submitter
- p.Leu188= Single submitter
Uncertain significance 54
- p.Val243Ile Multiple submitters ⚠
- p.Ala145Thr Single submitter ⚠
- p.Ala290Val Single submitter ⚠
- p.Ala297Thr Single submitter ⚠
- p.Arg150Gln Single submitter ⚠
- p.Arg158Lys Single submitter ⚠
- p.Arg185Gln Single submitter ⚠
- p.Arg185Trp Single submitter ⚠
- p.Arg186Cys Single submitter ⚠
- p.Arg226Gln Single submitter ⚠
- p.Arg226Trp Single submitter ⚠
- p.Arg256Gln Single submitter ⚠
- p.Arg256Trp Single submitter ⚠
- p.Arg30Gln Single submitter ⚠
- p.Arg30Trp Single submitter ⚠
- p.Arg35Lys Single submitter ⚠
- p.Arg44Ser Single submitter ⚠
- p.Asn242Ser Single submitter ⚠
- p.Asn49Asp Single submitter ⚠
- p.Asp104Asn Single submitter ⚠
- p.Asp104Val Single submitter ⚠
- p.Asp190Asn Single submitter ⚠
- p.Asp27Asn Single submitter ⚠
- p.Glu159Lys Single submitter ⚠
- p.Glu17Lys Single submitter ⚠
- p.Glu31Gln Single submitter ⚠
- p.Gly218Asp Single submitter ⚠
- p.Gly234Arg Single submitter ⚠
- p.Gly257Asp Single submitter ⚠
- p.Gly40Ala Single submitter ⚠
- p.Gly43Ser Single submitter ⚠
- p.Gly53Cys Single submitter ⚠
- p.Gly70Ala Single submitter ⚠
- p.His289Asp Single submitter ⚠
- p.His5Gln Single submitter ⚠
- p.His5Tyr Single submitter ⚠
- p.Ile105Val Single submitter ⚠
- p.Ile163Thr Single submitter ⚠
- p.Ile163Val Single submitter ⚠
- p.Leu245Gln Single submitter ⚠
- p.Lys132Glu Single submitter ⚠
- p.Lys137Met Single submitter ⚠
- p.Lys172Asn Single submitter ⚠
- p.Lys251Arg Single submitter ⚠
- p.Lys66Gln Single submitter ⚠
- p.Lys97Asn Single submitter ⚠
- p.Pro154Gln Single submitter ⚠
- p.Pro231Leu Single submitter ⚠
- p.Ser2Phe Single submitter ⚠
- p.Thr170Asn Single submitter ⚠
- p.Thr180Met Single submitter ⚠
- p.Tyr268Cys Single submitter ⚠
- p.Tyr294His Single submitter ⚠
- p.Tyr98Phe Single submitter ⚠