DCXR — 39 ClinVar variants
All ClinVar germline DCXR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
4 Benign · 3 Likely benign · 32 Uncertain significance
Full DCXR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DCXR p.Ala110Val Uncertain significance Single submitter
- DCXR p.Ala99Thr Uncertain significance Single submitter
- DCXR p.Asn107Lys Uncertain significance Single submitter
- DCXR p.His146Arg Uncertain significance Single submitter
- DCXR p.His195Arg Uncertain significance Single submitter
- DCXR p.Ile19Thr Uncertain significance Single submitter
- DCXR p.Lys196Thr Uncertain significance Single submitter
- DCXR p.Phe4Leu Uncertain significance Single submitter
- DCXR p.Thr230Ser Uncertain significance Single submitter
- DCXR p.Thr30Met Uncertain significance Single submitter
- DCXR p.Trp242Gly Uncertain significance Single submitter
- DCXR p.Val48Leu Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- DCXR p.Ala155Ser Uncertain significance Single submitter
- DCXR p.Ala189Thr Uncertain significance Single submitter
- DCXR p.Ala6Val Uncertain significance Single submitter
- DCXR p.Ala87Val Uncertain significance Single submitter
- DCXR p.Arg120Gly Uncertain significance Single submitter
- DCXR p.Arg120Ser Uncertain significance Single submitter
- DCXR p.Arg49Cys Uncertain significance Single submitter
- DCXR p.Arg8Cys Uncertain significance Single submitter
- DCXR p.Arg9Leu Uncertain significance Single submitter
- DCXR p.Asp43Tyr Uncertain significance Single submitter
- DCXR p.Gly126Glu Uncertain significance Single submitter
- DCXR p.Met158Val Uncertain significance Single submitter
- DCXR p.Pro236Ala Uncertain significance Single submitter
- DCXR p.Ser38Arg Uncertain significance Single submitter
- DCXR p.Thr160Ala Uncertain significance Single submitter
- DCXR p.Thr40Ala Uncertain significance Single submitter
- DCXR p.Thr40Pro Uncertain significance Single submitter
- DCXR p.Thr40Ser Uncertain significance Single submitter
- DCXR p.Val10Leu Uncertain significance Single submitter
-
DCXR p.Val212Ile
Likely benign
No assertion criteria
DCXR-related disorder
All DCXR variants
Benign 4
- c.53-8C>T Multiple submitters
- c.150+6T>C No assertion criteria DCXR-related disorder
- p.Gly7= No assertion criteria DCXR-related disorder
- p.Ser115= No assertion criteria DCXR-related disorder
Likely benign 3
- p.Glu105Asp Single submitter
- p.Gly72Ser Single submitter
- p.Val212Ile No assertion criteria DCXR-related disorder ⚠
Uncertain significance 32
- c.52+1G>A Single submitter pentosuria
- p.Ala110Val Single submitter ⚠
- p.Ala155Ser Single submitter ⚠
- p.Ala189Thr Single submitter ⚠
- p.Ala6Val Single submitter ⚠
- p.Ala87Val Single submitter ⚠
- p.Ala99Thr Single submitter ⚠
- p.Arg120Gly Single submitter ⚠
- p.Arg120Ser Single submitter ⚠
- p.Arg49Cys Single submitter ⚠
- p.Arg8Cys Single submitter ⚠
- p.Arg9Leu Single submitter ⚠
- p.Asn107Lys Single submitter ⚠
- p.Asp43Tyr Single submitter ⚠
- p.Gly126Glu Single submitter ⚠
- p.His146Arg Single submitter ⚠
- p.His195Arg Single submitter ⚠
- p.Ile19Thr Single submitter ⚠
- p.Lys196Thr Single submitter ⚠
- p.Met158Val Single submitter ⚠
- p.Phe4Leu Single submitter ⚠
- p.Pro236Ala Single submitter ⚠
- p.Ser38Arg Single submitter ⚠
- p.Thr160Ala Single submitter ⚠
- p.Thr230Ser Single submitter ⚠
- p.Thr30Met Single submitter ⚠
- p.Thr40Ala Single submitter ⚠
- p.Thr40Pro Single submitter ⚠
- p.Thr40Ser Single submitter ⚠
- p.Trp242Gly Single submitter ⚠
- p.Val10Leu Single submitter ⚠
- p.Val48Leu Single submitter ⚠