C2CD5 — 105 ClinVar variants
All ClinVar germline C2CD5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →
2 Likely benign · 103 Uncertain significance
Full C2CD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 103
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 65
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C2CD5 p.Ala242Thr Uncertain significance Single submitter
- C2CD5 p.Ala252Thr Uncertain significance Single submitter
- C2CD5 p.Ala342Val Uncertain significance Single submitter
- C2CD5 p.Ala355Thr Uncertain significance Single submitter
- C2CD5 p.Ala405Val Uncertain significance Single submitter
- C2CD5 p.Ala433Val Uncertain significance Single submitter
- C2CD5 p.Ala742Gly Uncertain significance Single submitter
- C2CD5 p.Arg136Gln Uncertain significance Single submitter
- C2CD5 p.Arg371Cys Uncertain significance Single submitter
- C2CD5 p.Arg371His Uncertain significance Single submitter
- C2CD5 p.Arg461His Uncertain significance Single submitter
- C2CD5 p.Arg815Thr Uncertain significance Single submitter
- C2CD5 p.Arg913His Uncertain significance Single submitter
- C2CD5 p.Asn277Lys Uncertain significance Single submitter
- C2CD5 p.Asn632Ser Uncertain significance Single submitter
- C2CD5 p.Asn717His Uncertain significance Single submitter
- C2CD5 p.Asn744Ser Uncertain significance Single submitter
- C2CD5 p.Asn799Thr Uncertain significance Single submitter
- C2CD5 p.Asp19His Uncertain significance Single submitter
- C2CD5 p.Asp389Val Uncertain significance Single submitter
- C2CD5 p.Asp493Asn Uncertain significance Single submitter
- C2CD5 p.Asp833Glu Uncertain significance Single submitter
- C2CD5 p.Asp833Gly Uncertain significance Single submitter
- C2CD5 p.Gln596His Uncertain significance Single submitter
- C2CD5 p.Gln658His Uncertain significance Single submitter
- C2CD5 p.Gln803Pro Uncertain significance Single submitter
- C2CD5 p.Gly328Val Uncertain significance Single submitter
- C2CD5 p.Gly366Ala Uncertain significance Single submitter
- C2CD5 p.Gly413Val Uncertain significance Single submitter
- C2CD5 p.Gly642Val Uncertain significance Single submitter
- C2CD5 p.Gly714Ser Uncertain significance Single submitter
- C2CD5 p.His363Arg Uncertain significance Single submitter
- C2CD5 p.His838Asp Uncertain significance Single submitter
- C2CD5 p.Ile160Met Uncertain significance Single submitter
- C2CD5 p.Ile467Thr Uncertain significance Single submitter
- C2CD5 p.Ile93Phe Uncertain significance Single submitter
- C2CD5 p.Lys996Arg Uncertain significance Single submitter
- C2CD5 p.Met474Val Uncertain significance Single submitter
- C2CD5 p.Met576Val Uncertain significance Single submitter
- C2CD5 p.Met897Thr Uncertain significance Single submitter
- C2CD5 p.Pro315His Uncertain significance Single submitter
- C2CD5 p.Pro330Leu Uncertain significance Single submitter
- C2CD5 p.Pro357Leu Uncertain significance Single submitter
- C2CD5 p.Ser262Thr Uncertain significance Single submitter
- C2CD5 p.Ser369Ile Uncertain significance Single submitter
- C2CD5 p.Ser53Leu Uncertain significance Single submitter
- C2CD5 p.Ser661Ile Uncertain significance Single submitter
- C2CD5 p.Ser662Leu Uncertain significance Single submitter
- C2CD5 p.Ser817Leu Uncertain significance Single submitter
- C2CD5 p.Thr103Ala Uncertain significance Single submitter
- C2CD5 p.Thr1051Asn Uncertain significance Single submitter
- C2CD5 p.Thr503Ala Uncertain significance Single submitter
- C2CD5 p.Thr805Pro Uncertain significance Single submitter
- C2CD5 p.Thr896Ile Uncertain significance Single submitter
- C2CD5 p.Thr898Lys Uncertain significance Single submitter
- C2CD5 p.Thr929Ala Uncertain significance Single submitter
- C2CD5 p.Tyr292Ser Uncertain significance Single submitter
- C2CD5 p.Val1030Ala Uncertain significance Single submitter
- C2CD5 p.Val1049Ile Uncertain significance Single submitter
- C2CD5 p.Val364Ile Uncertain significance Single submitter
- C2CD5 p.Val446Met Uncertain significance Single submitter
- C2CD5 p.Val494Phe Uncertain significance Single submitter
- C2CD5 p.Val905Ala Uncertain significance Single submitter
- C2CD5 p.Val905Leu Uncertain significance Single submitter
- C2CD5 p.Val925Ile Uncertain significance Single submitter
Predictors split 38
The independent predictors disagree with each other — read with care.
- C2CD5 p.Ala21Thr Uncertain significance Single submitter
- C2CD5 p.Ala527Thr Uncertain significance Single submitter
- C2CD5 p.Ala560Ser Uncertain significance Single submitter
- C2CD5 p.Ala587Thr Uncertain significance Single submitter
- C2CD5 p.Ala793Thr Uncertain significance Single submitter
- C2CD5 p.Arg1024His Uncertain significance Single submitter
- C2CD5 p.Arg520His Uncertain significance Single submitter
- C2CD5 p.Arg651His Uncertain significance Single submitter
- C2CD5 p.Arg911Trp Uncertain significance Single submitter
- C2CD5 p.Asn536His Uncertain significance Single submitter
- C2CD5 p.Asp41Glu Uncertain significance Single submitter
- C2CD5 p.Asp669Asn Uncertain significance Single submitter
- C2CD5 p.Cys155Ser Uncertain significance Single submitter
- C2CD5 p.Gln489Arg Uncertain significance Single submitter
- C2CD5 p.Gly328Trp Uncertain significance Single submitter
- C2CD5 p.His14Asp Uncertain significance Single submitter
- C2CD5 p.Ile196Val Uncertain significance Single submitter
- C2CD5 p.Ile534Val Uncertain significance Single submitter
- C2CD5 p.Ile766Asn Uncertain significance Single submitter
- C2CD5 p.Ile971Val Uncertain significance Single submitter
- C2CD5 p.Leu195Val Uncertain significance Single submitter
- C2CD5 p.Leu480Phe Uncertain significance Single submitter
- C2CD5 p.Leu754Ser Uncertain significance Single submitter
- C2CD5 p.Leu813Trp Uncertain significance Single submitter
- C2CD5 p.Lys145Arg Uncertain significance Single submitter
- C2CD5 p.Lys927Glu Uncertain significance Single submitter
- C2CD5 p.Lys927Thr Uncertain significance Single submitter
- C2CD5 p.Met977Val Uncertain significance Single submitter
- C2CD5 p.Pro1036Arg Uncertain significance Single submitter
- C2CD5 p.Pro315Ser Uncertain significance Single submitter
- C2CD5 p.Ser250Cys Uncertain significance Single submitter
- C2CD5 p.Ser262Phe Uncertain significance Single submitter
- C2CD5 p.Ser637Phe Uncertain significance Single submitter
- C2CD5 p.Thr150Met Uncertain significance Single submitter
- C2CD5 p.Thr776Lys Uncertain significance Single submitter
- C2CD5 p.Thr790Ala Uncertain significance Single submitter
- C2CD5 p.Tyr156Cys Uncertain significance Single submitter
- C2CD5 p.Tyr98Cys Uncertain significance Single submitter
All C2CD5 variants
Likely benign 2
- p.Met897Val Single submitter
- p.Thr1037Ala Single submitter
Uncertain significance 103
- p.Ala21Thr Single submitter ⚠
- p.Ala242Thr Single submitter ⚠
- p.Ala252Thr Single submitter ⚠
- p.Ala342Val Single submitter ⚠
- p.Ala355Thr Single submitter ⚠
- p.Ala405Val Single submitter ⚠
- p.Ala433Val Single submitter ⚠
- p.Ala527Thr Single submitter ⚠
- p.Ala560Ser Single submitter ⚠
- p.Ala587Thr Single submitter ⚠
- p.Ala742Gly Single submitter ⚠
- p.Ala793Thr Single submitter ⚠
- p.Arg1024His Single submitter ⚠
- p.Arg136Gln Single submitter ⚠
- p.Arg371Cys Single submitter ⚠
- p.Arg371His Single submitter ⚠
- p.Arg461His Single submitter ⚠
- p.Arg520His Single submitter ⚠
- p.Arg651His Single submitter ⚠
- p.Arg815Thr Single submitter ⚠
- p.Arg911Trp Single submitter ⚠
- p.Arg913His Single submitter ⚠
- p.Asn277Lys Single submitter ⚠
- p.Asn536His Single submitter ⚠
- p.Asn632Ser Single submitter ⚠
- p.Asn717His Single submitter ⚠
- p.Asn744Ser Single submitter ⚠
- p.Asn799Thr Single submitter ⚠
- p.Asp19His Single submitter ⚠
- p.Asp389Val Single submitter ⚠
- p.Asp41Glu Single submitter ⚠
- p.Asp493Asn Single submitter ⚠
- p.Asp669Asn Single submitter ⚠
- p.Asp833Glu Single submitter ⚠
- p.Asp833Gly Single submitter ⚠
- p.Cys155Ser Single submitter ⚠
- p.Gln489Arg Single submitter ⚠
- p.Gln596His Single submitter ⚠
- p.Gln658His Single submitter ⚠
- p.Gln803Pro Single submitter ⚠
- p.Gly328Trp Single submitter ⚠
- p.Gly328Val Single submitter ⚠
- p.Gly366Ala Single submitter ⚠
- p.Gly413Val Single submitter ⚠
- p.Gly642Val Single submitter ⚠
- p.Gly714Ser Single submitter ⚠
- p.His14Asp Single submitter ⚠
- p.His363Arg Single submitter ⚠
- p.His838Asp Single submitter ⚠
- p.Ile160Met Single submitter ⚠
- p.Ile196Val Single submitter ⚠
- p.Ile467Thr Single submitter ⚠
- p.Ile534Val Single submitter ⚠
- p.Ile766Asn Single submitter ⚠
- p.Ile93Phe Single submitter ⚠
- p.Ile971Val Single submitter ⚠
- p.Leu195Val Single submitter ⚠
- p.Leu480Phe Single submitter ⚠
- p.Leu754Ser Single submitter ⚠
- p.Leu813Trp Single submitter ⚠
- p.Lys145Arg Single submitter ⚠
- p.Lys927Glu Single submitter ⚠
- p.Lys927Thr Single submitter ⚠
- p.Lys996Arg Single submitter ⚠
- p.Met474Val Single submitter ⚠
- p.Met576Val Single submitter ⚠
- p.Met897Thr Single submitter ⚠
- p.Met977Val Single submitter ⚠
- p.Pro1036Arg Single submitter ⚠
- p.Pro315His Single submitter ⚠
- p.Pro315Ser Single submitter ⚠
- p.Pro330Leu Single submitter ⚠
- p.Pro357Leu Single submitter ⚠
- p.Ser250Cys Single submitter ⚠
- p.Ser262Phe Single submitter ⚠
- p.Ser262Thr Single submitter ⚠
- p.Ser369Ile Single submitter ⚠
- p.Ser53Leu Single submitter ⚠
- p.Ser637Phe Single submitter ⚠
- p.Ser661Ile Single submitter ⚠
- p.Ser662Leu Single submitter ⚠
- p.Ser817Leu Single submitter ⚠
- p.Thr103Ala Single submitter ⚠
- p.Thr1051Asn Single submitter ⚠
- p.Thr150Met Single submitter ⚠
- p.Thr503Ala Single submitter ⚠
- p.Thr776Lys Single submitter ⚠
- p.Thr790Ala Single submitter ⚠
- p.Thr805Pro Single submitter ⚠
- p.Thr896Ile Single submitter ⚠
- p.Thr898Lys Single submitter ⚠
- p.Thr929Ala Single submitter ⚠
- p.Tyr156Cys Single submitter ⚠
- p.Tyr292Ser Single submitter ⚠
- p.Tyr98Cys Single submitter ⚠
- p.Val1030Ala Single submitter ⚠
- p.Val1049Ile Single submitter ⚠
- p.Val364Ile Single submitter ⚠
- p.Val446Met Single submitter ⚠
- p.Val494Phe Single submitter ⚠
- p.Val905Ala Single submitter ⚠
- p.Val905Leu Single submitter ⚠
- p.Val925Ile Single submitter ⚠