CCM2L — 62 ClinVar variants
All ClinVar germline CCM2L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
62 Uncertain significance
Full CCM2L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCM2L p.Ala214Gly Uncertain significance Single submitter
- CCM2L p.Ala299Ser Uncertain significance Single submitter
- CCM2L p.Arg195Cys Uncertain significance Single submitter
- CCM2L p.Arg37Gln Uncertain significance Single submitter
- CCM2L p.Arg439Gln Uncertain significance Single submitter
- CCM2L p.Asn125Ser Uncertain significance Single submitter
- CCM2L p.Asp167Gly Uncertain significance Single submitter
- CCM2L p.Asp291Asn Uncertain significance Single submitter
- CCM2L p.Asp298Asn Uncertain significance Single submitter
- CCM2L p.Gly181Ser Uncertain significance Single submitter
- CCM2L p.Gly25Arg Uncertain significance Single submitter
- CCM2L p.Gly69Ser Uncertain significance Single submitter
- CCM2L p.His398Arg Uncertain significance Single submitter
- CCM2L p.Met205Arg Uncertain significance Single submitter
- CCM2L p.Pro161Ser Uncertain significance Single submitter
- CCM2L p.Pro263Ser Uncertain significance Single submitter
- CCM2L p.Pro295Ala Uncertain significance Single submitter
- CCM2L p.Pro295Leu Uncertain significance Single submitter
- CCM2L p.Pro348Ser Uncertain significance Single submitter
- CCM2L p.Thr191Pro Uncertain significance Single submitter
- CCM2L p.Thr392Arg Uncertain significance Single submitter
- CCM2L p.Trp207Gly Uncertain significance Single submitter
- CCM2L p.Trp207Leu Uncertain significance Single submitter
- CCM2L p.Trp207Ser Uncertain significance Single submitter
- CCM2L p.Trp267Arg Uncertain significance Single submitter
- CCM2L p.Tyr344His Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- CCM2L p.Ala183Glu Uncertain significance Single submitter
- CCM2L p.Ala93Ser Uncertain significance Single submitter
- CCM2L p.Arg204Gln Uncertain significance Single submitter
- CCM2L p.Arg215Trp Uncertain significance Single submitter
- CCM2L p.Arg26Cys Uncertain significance Single submitter
- CCM2L p.Arg27Trp Uncertain significance Single submitter
- CCM2L p.Arg282Trp Uncertain significance Single submitter
- CCM2L p.Arg356Cys Uncertain significance Single submitter
- CCM2L p.Arg36Cys Uncertain significance Single submitter
- CCM2L p.Arg442Gln Uncertain significance Single submitter
- CCM2L p.Asp167Tyr Uncertain significance Single submitter
- CCM2L p.Asp176Tyr Uncertain significance Single submitter
- CCM2L p.Asp312Gly Uncertain significance Single submitter
- CCM2L p.Glu193Lys Uncertain significance Single submitter
- CCM2L p.Glu268Asp Uncertain significance Single submitter
- CCM2L p.Gly158Asp Uncertain significance Single submitter
- CCM2L p.Gly210Asp Uncertain significance Single submitter
- CCM2L p.Gly210Val Uncertain significance Single submitter
- CCM2L p.Gly235Ser Uncertain significance Single submitter
- CCM2L p.Gly257Ser Uncertain significance Single submitter
- CCM2L p.His135Gln Uncertain significance Single submitter
- CCM2L p.Ile132Met Uncertain significance Single submitter
- CCM2L p.Ile328Thr Uncertain significance Single submitter
- CCM2L p.Ile334Thr Uncertain significance Single submitter
- CCM2L p.Pro177His Uncertain significance Single submitter
- CCM2L p.Pro46Ser Uncertain significance Single submitter
- CCM2L p.Ser244Asn Uncertain significance Single submitter
- CCM2L p.Ser246Asn Uncertain significance Single submitter
- CCM2L p.Ser390Asn Uncertain significance Single submitter
- CCM2L p.Thr191Ile Uncertain significance Single submitter
- CCM2L p.Trp122Gly Uncertain significance Single submitter
- CCM2L p.Trp73Ser Uncertain significance Single submitter
- CCM2L p.Tyr329His Uncertain significance Single submitter
- CCM2L p.Val324Phe Uncertain significance Single submitter
All CCM2L variants
Uncertain significance 62
- p.Ala183Glu Single submitter ⚠
- p.Ala214Gly Single submitter ⚠
- p.Ala299Ser Single submitter ⚠
- p.Ala435= Single submitter
- p.Ala93Ser Single submitter ⚠
- p.Arg195Cys Single submitter ⚠
- p.Arg204Gln Single submitter ⚠
- p.Arg215Trp Single submitter ⚠
- p.Arg26Cys Single submitter ⚠
- p.Arg27Trp Single submitter ⚠
- p.Arg282Trp Single submitter ⚠
- p.Arg356Cys Single submitter ⚠
- p.Arg36Cys Single submitter ⚠
- p.Arg37Gln Single submitter ⚠
- p.Arg439Gln Single submitter ⚠
- p.Arg442Gln Single submitter ⚠
- p.Asn125Ser Single submitter ⚠
- p.Asp167Gly Single submitter ⚠
- p.Asp167Tyr Single submitter ⚠
- p.Asp176Tyr Single submitter ⚠
- p.Asp291Asn Single submitter ⚠
- p.Asp298Asn Single submitter ⚠
- p.Asp312Gly Single submitter ⚠
- p.Asp449= Single submitter
- p.Glu193Lys Single submitter ⚠
- p.Glu268Asp Single submitter ⚠
- p.Gly158Asp Single submitter ⚠
- p.Gly181Ser Single submitter ⚠
- p.Gly210Asp Single submitter ⚠
- p.Gly210Val Single submitter ⚠
- p.Gly235Ser Single submitter ⚠
- p.Gly257Ser Single submitter ⚠
- p.Gly25Arg Single submitter ⚠
- p.Gly69Ser Single submitter ⚠
- p.His135Gln Single submitter ⚠
- p.His398Arg Single submitter ⚠
- p.Ile132Met Single submitter ⚠
- p.Ile328Thr Single submitter ⚠
- p.Ile334Thr Single submitter ⚠
- p.Met205Arg Single submitter ⚠
- p.Pro161Ser Single submitter ⚠
- p.Pro177His Single submitter ⚠
- p.Pro263Ser Single submitter ⚠
- p.Pro295Ala Single submitter ⚠
- p.Pro295Leu Single submitter ⚠
- p.Pro348Ser Single submitter ⚠
- p.Pro46Ser Single submitter ⚠
- p.Ser244Asn Single submitter ⚠
- p.Ser246Asn Single submitter ⚠
- p.Ser390Asn Single submitter ⚠
- p.Thr191Ile Single submitter ⚠
- p.Thr191Pro Single submitter ⚠
- p.Thr392Arg Single submitter ⚠
- p.Trp122Gly Single submitter ⚠
- p.Trp207Gly Single submitter ⚠
- p.Trp207Leu Single submitter ⚠
- p.Trp207Ser Single submitter ⚠
- p.Trp267Arg Single submitter ⚠
- p.Trp73Ser Single submitter ⚠
- p.Tyr329His Single submitter ⚠
- p.Tyr344His Single submitter ⚠
- p.Val324Phe Single submitter ⚠