CREM — 29 ClinVar variants
All ClinVar germline CREM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
3 Benign · 1 Likely benign · 25 Uncertain significance
Full CREM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CREM p.Ala168Val Uncertain significance Single submitter
- CREM p.Ala58Ser Uncertain significance Single submitter
- CREM p.Arg211Gln Uncertain significance Single submitter
- CREM p.Gly101Asp Uncertain significance Single submitter
- CREM p.Ile128Val Uncertain significance Single submitter
- CREM p.Ile139Val Uncertain significance Single submitter
- CREM p.Ile175Val Uncertain significance Single submitter
- CREM p.Met122Ile Uncertain significance Single submitter
- CREM p.Ser127Asn Uncertain significance Single submitter
- CREM p.Ser39Pro Uncertain significance Single submitter
- CREM p.Thr207Ala Uncertain significance Single submitter
- CREM p.Thr46Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- CREM p.Ser226Leu Likely benign Multiple submitters
- CREM c.*344A>G Uncertain significance Single submitter
- CREM c.*354A>G Uncertain significance Single submitter
- CREM p.Arg84Gln Uncertain significance Single submitter
- CREM p.Asn93Ser Uncertain significance Single submitter
- CREM p.Glu107Lys Uncertain significance Single submitter
- CREM p.Gly172Asp Uncertain significance Single submitter
- CREM p.Gly203Asp Uncertain significance Single submitter
- CREM p.Gly220Glu Uncertain significance Single submitter
- CREM p.Gly228Arg Uncertain significance Single submitter
- CREM p.Ser194Asn Uncertain significance Single submitter
- CREM p.Thr133Lys Uncertain significance Single submitter
- CREM p.Thr133Met Uncertain significance Single submitter
- CREM p.Tyr88Phe Uncertain significance Single submitter
All CREM variants
Likely benign 1
- p.Ser226Leu Multiple submitters ⚠
Uncertain significance 25
- c.*344A>G Single submitter ⚠
- c.*354A>G Single submitter ⚠
- p.Ala168Val Single submitter ⚠
- p.Ala58Ser Single submitter ⚠
- p.Arg211Gln Single submitter ⚠
- p.Arg84Gln Single submitter ⚠
- p.Asn93Ser Single submitter ⚠
- p.Glu107Lys Single submitter ⚠
- p.Gly101Asp Single submitter ⚠
- p.Gly172Asp Single submitter ⚠
- p.Gly203Asp Single submitter ⚠
- p.Gly220Glu Single submitter ⚠
- p.Gly228Arg Single submitter ⚠
- p.Ile128Val Single submitter ⚠
- p.Ile139Val Single submitter ⚠
- p.Ile175Val Single submitter ⚠
- p.Met122Ile Single submitter ⚠
- p.Ser127Asn Single submitter ⚠
- p.Ser194Asn Single submitter ⚠
- p.Ser39Pro Single submitter ⚠
- p.Thr133Lys Single submitter ⚠
- p.Thr133Met Single submitter ⚠
- p.Thr207Ala Single submitter ⚠
- p.Thr46Ile Single submitter ⚠
- p.Tyr88Phe Single submitter ⚠