CIDEC — 75 ClinVar variants
All ClinVar germline CIDEC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 2 Conflicting · 19 Benign · 10 Likely benign · 41 Uncertain significance
Full CIDEC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CIDEC p.Ala226Pro Uncertain significance Single submitter
- CIDEC p.Arg23His Uncertain significance Single submitter
- CIDEC p.Gln114Glu Uncertain significance Single submitter
- CIDEC p.Gln30Glu Uncertain significance Single submitter
- CIDEC p.Gly224Arg Uncertain significance Single submitter
- CIDEC p.Ile183Phe Uncertain significance Single submitter
- CIDEC p.Leu110Pro Uncertain significance Single submitter
- CIDEC p.Leu130Pro Uncertain significance Single submitter
- CIDEC p.Leu229Pro Uncertain significance Single submitter
- CIDEC p.Lys133Gln Uncertain significance Single submitter
- CIDEC p.Lys38Gln Uncertain significance Single submitter
- CIDEC p.Lys69Arg Uncertain significance Single submitter
- CIDEC p.Phe98Leu Uncertain significance Single submitter
- CIDEC p.Pro119Leu Uncertain significance Single submitter
- CIDEC p.Pro127Leu Uncertain significance Single submitter
- CIDEC p.Pro222His Uncertain significance Single submitter
- CIDEC p.Pro231Leu Uncertain significance Single submitter
- CIDEC p.Ser227Leu Uncertain significance Single submitter
- CIDEC p.Ser53Arg Uncertain significance Single submitter
- CIDEC p.Thr124Ile Uncertain significance Single submitter
- CIDEC p.Thr216Met Uncertain significance Single submitter
- CIDEC p.Val22Leu Uncertain significance Single submitter
- CIDEC p.Val27Met Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- CIDEC p.Arg182His Uncertain significance Multiple submitters
- CIDEC p.Ile156Thr Uncertain significance Multiple submitters
- CIDEC p.Met195Ile Uncertain significance Multiple submitters
- CIDEC p.Thr49Met Benign Multiple submitters
- CIDEC p.Val47Ile Likely benign Multiple submitters
- CIDEC p.Val54Met Uncertain significance Multiple submitters
- CIDEC p.Arg142Cys Uncertain significance Single submitter
- CIDEC p.Arg189Cys Uncertain significance Single submitter
- CIDEC p.Arg43Gln Uncertain significance Single submitter
- CIDEC p.Arg43Trp Uncertain significance Single submitter
- CIDEC p.Arg46Cys Uncertain significance Single submitter
- CIDEC p.Arg52Gln Uncertain significance Single submitter
- CIDEC p.Arg71Trp Uncertain significance Single submitter
- CIDEC p.Gln114His Uncertain significance Single submitter
- CIDEC p.Leu85Val Uncertain significance Single submitter
- CIDEC p.Thr205Ile Uncertain significance Single submitter
- CIDEC p.Val161Met Uncertain significance Single submitter
- CIDEC p.Val54Glu Uncertain significance Single submitter
- CIDEC p.Val54Leu Uncertain significance Single submitter
All CIDEC variants
Pathogenic 1
- p.Glu186Ter No assertion criteria CIDEC-related familial partial lipodystrophy
Likely pathogenic 2
- p.Gln211fs Single submitter CIDEC-related familial partial lipodystrophy
- p.Gly204fs Single submitter CIDEC-related familial partial lipodystrophy
Conflicting classifications of pathogenicity 2
- p.Arg71Gln Single submitter ⚠
- p.Ser33Pro Single submitter ⚠
Benign 19
- c.207+180G>A Multiple submitters
- c.208-91C>T Multiple submitters
- c.53+77T>A Multiple submitters
- c.-25-52G>T Multiple submitters
- c.*162G>A Multiple submitters
- c.*293T>C Multiple submitters
- c.*69C>G Multiple submitters
- p.His200= Multiple submitters
- p.Leu11= Multiple submitters
- p.Leu32= Multiple submitters CIDEC-related familial partial lipodystrophy
- p.Met59Val Multiple submitters
- p.Thr49Met Multiple submitters ⚠
- p.Tyr61His Multiple submitters
- c.207+294_207+308del Single submitter
- c.208-143C>A Single submitter
- c.367-29G>T Single submitter
- c.-26+185G>A Single submitter
- p.Asp88= Single submitter
- p.Val201= Single submitter
Likely benign 10
- p.Thr198= Multiple submitters
- p.Val47Ile Multiple submitters ⚠
- p.Ala135Thr Single submitter
- p.Gln196= Single submitter
- p.His19Arg Single submitter
- p.Phe188Leu Single submitter
- p.Ser129= Single submitter
- p.Ser53= Single submitter
- c.366+10C>T No assertion criteria CIDEC-related disorder
- p.Gln220His No assertion criteria CIDEC-related disorder
Uncertain significance 41
- p.Arg182His Multiple submitters ⚠
- p.Ile156Thr Multiple submitters ⚠
- p.Met195Ile Multiple submitters ⚠
- p.Val54Met Multiple submitters ⚠
- p.Ala226Pro Single submitter ⚠
- p.Arg142Cys Single submitter ⚠
- p.Arg189Cys Single submitter ⚠
- p.Arg23His Single submitter ⚠
- p.Arg43Gln Single submitter ⚠
- p.Arg43Trp Single submitter ⚠
- p.Arg46Cys Single submitter ⚠
- p.Arg52Gln Single submitter ⚠
- p.Arg71Trp Single submitter ⚠
- p.Gln114Glu Single submitter ⚠
- p.Gln114His Single submitter ⚠
- p.Gln30Glu Single submitter ⚠
- p.Gly224Arg Single submitter ⚠
- p.Ile183Phe Single submitter ⚠
- p.Leu110Pro Single submitter ⚠
- p.Leu130Pro Single submitter ⚠
- p.Leu229Pro Single submitter ⚠
- p.Leu85Val Single submitter ⚠
- p.Lys133Gln Single submitter ⚠
- p.Lys223fs Single submitter CIDEC-related familial partial lipodystrophy
- p.Lys38Gln Single submitter ⚠
- p.Lys69Arg Single submitter ⚠
- p.Phe98Leu Single submitter ⚠
- p.Pro119Leu Single submitter ⚠
- p.Pro127Leu Single submitter ⚠
- p.Pro222His Single submitter ⚠
- p.Pro231Leu Single submitter ⚠
- p.Ser227Leu Single submitter ⚠
- p.Ser53Arg Single submitter ⚠
- p.Thr124Ile Single submitter ⚠
- p.Thr205Ile Single submitter ⚠
- p.Thr216Met Single submitter ⚠
- p.Val161Met Single submitter ⚠
- p.Val22Leu Single submitter ⚠
- p.Val27Met Single submitter ⚠
- p.Val54Glu Single submitter ⚠
- p.Val54Leu Single submitter ⚠