CXXC1 — 82 ClinVar variants

All ClinVar germline CXXC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

7 Benign · 3 Likely benign · 72 Uncertain significance

Full CXXC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 71

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 38

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 33

The independent predictors disagree with each other — read with care.

All CXXC1 variants

Benign 7

c.122+9G>A Multiple submitters
c.1413+13G>C Multiple submitters
p.Glu9= Multiple submitters
p.Thr442= Multiple submitters
p.Asp532= Single submitter
p.Gln209= Single submitter
p.Thr227= Single submitter

Likely benign 3

p.Ala25= Single submitter
p.Arg111= Single submitter
p.Asp115= Single submitter

Uncertain significance 72

c.1574+1G>C Single submitter
p.Ala133Val Single submitter ⚠
p.Ala274Thr Single submitter ⚠
p.Ala319Thr Single submitter ⚠
p.Ala384Thr Single submitter ⚠
p.Ala465Val Single submitter ⚠
p.Arg103Gln Single submitter ⚠
p.Arg109Cys Single submitter ⚠
p.Arg109His Single submitter ⚠
p.Arg120Cys Single submitter ⚠
p.Arg120His Single submitter ⚠
p.Arg121Gln Single submitter ⚠
p.Arg176Gln Single submitter ⚠
p.Arg204Gln Single submitter ⚠
p.Arg237Gln Single submitter ⚠
p.Arg237Trp Single submitter ⚠
p.Arg253Cys Single submitter ⚠
p.Arg253His Single submitter ⚠
p.Arg321Gln Single submitter ⚠
p.Arg382Cys Single submitter ⚠
p.Arg382His Single submitter ⚠
p.Arg432His Single submitter ⚠
p.Arg435Leu Single submitter ⚠
p.Arg449Cys Single submitter ⚠
p.Arg467His Single submitter ⚠
p.Arg623His Single submitter ⚠
p.Arg74Lys Single submitter ⚠
p.Arg83Gly Single submitter ⚠
p.Arg85Gln Single submitter ⚠
p.Arg90Trp Single submitter ⚠
p.Arg92Gln Single submitter ⚠
p.Asp185Asn Single submitter ⚠
p.Asp257Asn Single submitter ⚠
p.Asp301Tyr Single submitter ⚠
p.Asp309Asn Single submitter ⚠
p.Asp394Asn Single submitter ⚠
p.Asp53Glu Single submitter ⚠
p.Asp644Glu Single submitter ⚠
p.Gln292His Single submitter ⚠
p.Glu101Lys Single submitter ⚠
p.Glu230Gly Single submitter ⚠
p.Glu258Ala Single submitter ⚠
p.Glu268Ala Single submitter ⚠
p.Glu271Ala Single submitter ⚠
p.Glu2Lys Single submitter ⚠
p.Glu342Ala Single submitter ⚠
p.Glu619Lys Single submitter ⚠
p.Glu72Asp Single submitter ⚠
p.His348Tyr Single submitter ⚠
p.His491Tyr Single submitter ⚠
p.Ile254Thr Single submitter ⚠
p.Leu147Val Single submitter ⚠
p.Leu444Val Single submitter ⚠
p.Lys267Arg Single submitter ⚠
p.Lys543Asn Single submitter ⚠
p.Met397Arg Single submitter ⚠
p.Pro116Ser Single submitter ⚠
p.Pro225Thr Single submitter ⚠
p.Pro285Ser Single submitter ⚠
p.Pro378His Single submitter ⚠
p.Pro536Leu Single submitter ⚠
p.Ser17Thr Single submitter ⚠
p.Ser19Phe Single submitter ⚠
p.Ser222Leu Single submitter ⚠
p.Ser439Gly Single submitter ⚠
p.Ser653Ile Single submitter ⚠
p.Ser6Pro Single submitter ⚠
p.Thr513Met Single submitter ⚠
p.Thr647Pro Single submitter ⚠
p.Tyr345Asp Single submitter ⚠
p.Tyr509Phe Single submitter ⚠
p.Val381Ala Single submitter ⚠