CCER2 — 39 ClinVar variants
All ClinVar germline CCER2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
11 Benign · 15 Likely benign · 13 Uncertain significance
Full CCER2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCER2 p.Ala121Gly Uncertain significance Single submitter
- CCER2 p.Arg123Leu Uncertain significance Single submitter
- CCER2 p.Arg143Lys Uncertain significance Single submitter
- CCER2 p.Arg195His Uncertain significance Single submitter
- CCER2 p.Glu250Gln Uncertain significance Single submitter
- CCER2 p.Thr257Met Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- CCER2 p.Glu33Asp Benign Multiple submitters
- CCER2 p.Ala21Ser Uncertain significance Single submitter
- CCER2 p.Arg209His Likely benign Single submitter
- CCER2 p.Glu202Lys Uncertain significance Single submitter
- CCER2 p.Glu232Ala Benign Single submitter
- CCER2 p.Glu64Asp Benign Single submitter
- CCER2 p.Leu15Met Uncertain significance Single submitter
All CCER2 variants
Benign 11
- p.Glu33Asp Multiple submitters ⚠
- c.103-3C>A Single submitter
- c.61+19G>A Single submitter
- p.Glu160Lys Single submitter
- p.Glu232Ala Single submitter ⚠
- p.Glu64Asp Single submitter ⚠
- p.Glu77Lys Single submitter
- p.His220del Single submitter
- p.Pro2= Single submitter
- p.Thr68Ser Single submitter
- p.Thr76= Single submitter
Likely benign 15
- c.103-19C>T Single submitter
- c.190+11C>A Single submitter
- c.190+13C>G Single submitter
- c.191-18C>T Single submitter
- c.61+18C>T Single submitter
- p.Arg157Gln Single submitter
- p.Arg208Gly Single submitter
- p.Arg209His Single submitter ⚠
- p.Glu149Asp Single submitter
- p.His218_His220del Single submitter
- p.His71= Single submitter
- p.Leu16= Single submitter
- p.Leu81= Single submitter
- p.Ser234= Single submitter
- p.Thr257= Single submitter
Uncertain significance 13
- c.102+7A>T Single submitter
- p.Ala121Gly Single submitter ⚠
- p.Ala21Ser Single submitter ⚠
- p.Arg123Leu Single submitter ⚠
- p.Arg143Lys Single submitter ⚠
- p.Arg195His Single submitter ⚠
- p.Glu202Lys Single submitter ⚠
- p.Glu250Gln Single submitter ⚠
- p.His220_Gln221insHis Single submitter
- p.Leu15Met Single submitter ⚠
- p.Lys230del Single submitter
- p.Lys253del Single submitter
- p.Thr257Met Single submitter ⚠