CXXC5 — 47 ClinVar variants
All ClinVar germline CXXC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
5 Likely benign · 42 Uncertain significance
Full CXXC5 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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CXXC5 p.Ala126Val Uncertain significance Single submitter
- CXXC5 p.Ala213Thr Uncertain significance Single submitter
- CXXC5 p.Ala305Thr Uncertain significance Single submitter
- CXXC5 p.Asp36Gly Uncertain significance Single submitter
- CXXC5 p.Gln177Arg Uncertain significance Single submitter
- CXXC5 p.Glu100Lys Uncertain significance Single submitter
- CXXC5 p.Gly12Ser Uncertain significance Single submitter
- CXXC5 p.Gly13Ser Uncertain significance Single submitter
- CXXC5 p.Gly189Asp Uncertain significance Single submitter
- CXXC5 p.Gly204Ser Uncertain significance Single submitter
- CXXC5 p.Gly247Arg Uncertain significance Single submitter
- CXXC5 p.Gly29Asp Uncertain significance Single submitter
- CXXC5 p.Gly5Ser Uncertain significance Single submitter
- CXXC5 p.Gly89Ser Uncertain significance Single submitter
- CXXC5 p.Lys37Asn Uncertain significance Single submitter
- CXXC5 p.Pro54Ser Uncertain significance Single submitter
- CXXC5 p.Pro55Leu Uncertain significance Single submitter
- CXXC5 p.Pro78Leu Uncertain significance Single submitter
- CXXC5 p.Ser14Gly Uncertain significance Single submitter
- CXXC5 p.Ser2Leu Uncertain significance Single submitter
- CXXC5 p.Thr106Ser Uncertain significance Single submitter
- CXXC5 p.Thr161Pro Uncertain significance Single submitter
- CXXC5 p.Thr169Ser Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- CXXC5 p.Ala111Thr Uncertain significance Single submitter
- CXXC5 p.Ala123Val Uncertain significance Single submitter
- CXXC5 p.Ala188Asp Uncertain significance Single submitter
- CXXC5 p.Ala267Val Uncertain significance Single submitter
- CXXC5 p.Ala45Thr Likely benign Single submitter
- CXXC5 p.Arg270Gln Uncertain significance Single submitter
- CXXC5 p.Glu200Lys Uncertain significance Single submitter
- CXXC5 p.Gly23Asp Uncertain significance Single submitter
- CXXC5 p.Gly63Val Uncertain significance Single submitter
- CXXC5 p.Gly99Arg Uncertain significance Single submitter
- CXXC5 p.His236Tyr Uncertain significance Single submitter
- CXXC5 p.Ile65Leu Uncertain significance Single submitter
- CXXC5 p.Lys71Glu Uncertain significance Single submitter
- CXXC5 p.Pro55His Uncertain significance Single submitter
- CXXC5 p.Pro56His Uncertain significance Single submitter
- CXXC5 p.Ser101Cys Uncertain significance Single submitter
- CXXC5 p.Ser8Tyr Uncertain significance Single submitter
- CXXC5 p.Thr314Met Uncertain significance Single submitter
- CXXC5 p.Thr53Ile Uncertain significance Single submitter
- CXXC5 p.Val49Met Uncertain significance Single submitter
All CXXC5 variants
Likely benign 5
- p.Ala45Thr Single submitter ⚠
- p.Asp103Glu Single submitter
- p.Gly93Ser Single submitter
- p.Ser304= Single submitter
- p.Ser87Gly Single submitter
Uncertain significance 42
- p.Ala111Thr Single submitter ⚠
- p.Ala123Val Single submitter ⚠
- p.Ala126Val Single submitter ⚠
- p.Ala188Asp Single submitter ⚠
- p.Ala213Thr Single submitter ⚠
- p.Ala267Val Single submitter ⚠
- p.Ala305Thr Single submitter ⚠
- p.Arg270Gln Single submitter ⚠
- p.Asp36Gly Single submitter ⚠
- p.Gln177Arg Single submitter ⚠
- p.Glu100Lys Single submitter ⚠
- p.Glu200Lys Single submitter ⚠
- p.Gly12Ser Single submitter ⚠
- p.Gly13Ser Single submitter ⚠
- p.Gly189Asp Single submitter ⚠
- p.Gly204Ser Single submitter ⚠
- p.Gly23Asp Single submitter ⚠
- p.Gly247Arg Single submitter ⚠
- p.Gly29Asp Single submitter ⚠
- p.Gly5Ser Single submitter ⚠
- p.Gly63Val Single submitter ⚠
- p.Gly89Ser Single submitter ⚠
- p.Gly99Arg Single submitter ⚠
- p.His236Tyr Single submitter ⚠
- p.Ile65Leu Single submitter ⚠
- p.Lys37Asn Single submitter ⚠
- p.Lys71Glu Single submitter ⚠
- p.Pro54Ser Single submitter ⚠
- p.Pro55His Single submitter ⚠
- p.Pro55Leu Single submitter ⚠
- p.Pro56His Single submitter ⚠
- p.Pro78Leu Single submitter ⚠
- p.Ser101Cys Single submitter ⚠
- p.Ser14Gly Single submitter ⚠
- p.Ser2Leu Single submitter ⚠
- p.Ser8Tyr Single submitter ⚠
- p.Thr106Ser Single submitter ⚠
- p.Thr161Pro Single submitter ⚠
- p.Thr169Ser Single submitter ⚠
- p.Thr314Met Single submitter ⚠
- p.Thr53Ile Single submitter ⚠
- p.Val49Met Single submitter ⚠