CMBL — 49 ClinVar variants
All ClinVar germline CMBL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
2 Benign · 4 Likely benign · 43 Uncertain significance
Full CMBL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CMBL p.Ala63Pro Uncertain significance Single submitter
- CMBL p.Arg23Cys Uncertain significance Single submitter
- CMBL p.Arg23Gly Uncertain significance Single submitter
- CMBL p.Arg23Ser Uncertain significance Single submitter
- CMBL p.Asn236Thr Uncertain significance Single submitter
- CMBL p.Asn69Ser Uncertain significance Single submitter
- CMBL p.Cys10Arg Uncertain significance Single submitter
- CMBL p.Gln124His Uncertain significance Single submitter
- CMBL p.Glu4Lys Uncertain significance Single submitter
- CMBL p.Gly127Asp Uncertain significance Single submitter
- CMBL p.Gly13Asp Uncertain significance Single submitter
- CMBL p.Gly22Asp Uncertain significance Single submitter
- CMBL p.His139Gln Uncertain significance Single submitter
- CMBL p.His14Gln Uncertain significance Single submitter
- CMBL p.Ile46Thr Uncertain significance Single submitter
- CMBL p.Leu172Trp Uncertain significance Single submitter
- CMBL p.Met65Ile Uncertain significance Single submitter
- CMBL p.Pro170Ser Uncertain significance Single submitter
- CMBL p.Pro7Ala Uncertain significance Single submitter
- CMBL p.Pro87Leu Uncertain significance Single submitter
- CMBL p.Thr136Asn Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- CMBL p.Arg101Gly Uncertain significance Single submitter
- CMBL p.Arg101Ile Uncertain significance Single submitter
- CMBL p.Arg217Gln Uncertain significance Single submitter
- CMBL p.Asn58Asp Uncertain significance Single submitter
- CMBL p.Cys10Ser Uncertain significance Single submitter
- CMBL p.Cys8Tyr Uncertain significance Single submitter
- CMBL p.Gln119Arg Uncertain significance Single submitter
- CMBL p.Glu177Ala Uncertain significance Single submitter
- CMBL p.Glu177Lys Uncertain significance Single submitter
- CMBL p.Ile110Phe Uncertain significance Single submitter
- CMBL p.Ile128Thr Uncertain significance Single submitter
- CMBL p.Ile230Thr Uncertain significance Single submitter
- CMBL p.Ile238Thr Uncertain significance Single submitter
- CMBL p.Phe148Leu Uncertain significance Single submitter
- CMBL p.Phe79Leu Uncertain significance Single submitter
- CMBL p.Pro183Leu Uncertain significance Single submitter
- CMBL p.Ser188Phe Uncertain significance Single submitter
- CMBL p.Ser37Phe Uncertain significance Single submitter
- CMBL p.Thr35Ile Uncertain significance Single submitter
- CMBL p.Thr73Asn Uncertain significance Single submitter
- CMBL p.Val215Met Uncertain significance Single submitter
- CMBL p.Val75Ile Uncertain significance Single submitter
All CMBL variants
Benign 2
- p.Asn178= Multiple submitters
- p.Gln192Ter Multiple submitters
Likely benign 4
- p.Asp163= Single submitter
- p.Ile113Val Single submitter
- p.Ser146Pro Single submitter
- p.Val158Ile Single submitter
Uncertain significance 43
- p.Ala63Pro Single submitter ⚠
- p.Arg101Gly Single submitter ⚠
- p.Arg101Ile Single submitter ⚠
- p.Arg217Gln Single submitter ⚠
- p.Arg23Cys Single submitter ⚠
- p.Arg23Gly Single submitter ⚠
- p.Arg23Ser Single submitter ⚠
- p.Asn236Thr Single submitter ⚠
- p.Asn58Asp Single submitter ⚠
- p.Asn69Ser Single submitter ⚠
- p.Cys10Arg Single submitter ⚠
- p.Cys10Ser Single submitter ⚠
- p.Cys8Tyr Single submitter ⚠
- p.Gln119Arg Single submitter ⚠
- p.Gln124His Single submitter ⚠
- p.Glu177Ala Single submitter ⚠
- p.Glu177Lys Single submitter ⚠
- p.Glu4Lys Single submitter ⚠
- p.Gly127Asp Single submitter ⚠
- p.Gly13Asp Single submitter ⚠
- p.Gly22Asp Single submitter ⚠
- p.His139Gln Single submitter ⚠
- p.His14Gln Single submitter ⚠
- p.Ile110Phe Single submitter ⚠
- p.Ile128Thr Single submitter ⚠
- p.Ile230Thr Single submitter ⚠
- p.Ile238Thr Single submitter ⚠
- p.Ile46Thr Single submitter ⚠
- p.Leu172Trp Single submitter ⚠
- p.Met65Ile Single submitter ⚠
- p.Phe148Leu Single submitter ⚠
- p.Phe79Leu Single submitter ⚠
- p.Pro170Ser Single submitter ⚠
- p.Pro183Leu Single submitter ⚠
- p.Pro7Ala Single submitter ⚠
- p.Pro87Leu Single submitter ⚠
- p.Ser188Phe Single submitter ⚠
- p.Ser37Phe Single submitter ⚠
- p.Thr136Asn Single submitter ⚠
- p.Thr35Ile Single submitter ⚠
- p.Thr73Asn Single submitter ⚠
- p.Val215Met Single submitter ⚠
- p.Val75Ile Single submitter ⚠