DIXDC1 — 38 ClinVar variants
All ClinVar germline DIXDC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Likely pathogenic · 3 Benign · 34 Uncertain significance
Full DIXDC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DIXDC1 p.Ala25Pro Uncertain significance Single submitter
- DIXDC1 p.Arg138Gln Uncertain significance Single submitter
- DIXDC1 p.Arg199Trp Uncertain significance Single submitter
- DIXDC1 p.Arg47Gln Uncertain significance Single submitter
- DIXDC1 p.Arg98His Uncertain significance Single submitter
- DIXDC1 p.Asp165Asn Uncertain significance Single submitter
- DIXDC1 p.Asp45Asn Uncertain significance Single submitter
- DIXDC1 p.Asp45Gly Uncertain significance Single submitter
- DIXDC1 p.Glu214Lys Uncertain significance Single submitter
- DIXDC1 p.Glu232Lys Uncertain significance Single submitter
- DIXDC1 p.Glu61Lys Uncertain significance Single submitter
- DIXDC1 p.Glu677Gly Uncertain significance Single submitter
- DIXDC1 p.Gly428Arg Uncertain significance Single submitter
- DIXDC1 p.His125Asp Uncertain significance Single submitter
- DIXDC1 p.Leu73Gln Uncertain significance Single submitter
- DIXDC1 p.Leu73Val Uncertain significance Single submitter
- DIXDC1 p.Lys425Gln Uncertain significance Single submitter
- DIXDC1 p.Pro212Leu Uncertain significance Single submitter
- DIXDC1 p.Ser231Arg Uncertain significance Single submitter
- DIXDC1 p.Val177Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- DIXDC1 p.Ala156Pro Uncertain significance Single submitter
- DIXDC1 p.Ala39Val Uncertain significance Single submitter
- DIXDC1 p.Arg199Gln Uncertain significance Single submitter
- DIXDC1 p.Arg268Trp Uncertain significance Single submitter
- DIXDC1 p.Asp608Glu Uncertain significance Single submitter
- DIXDC1 p.Gly369Glu Uncertain significance Single submitter
- DIXDC1 p.Leu469Phe Uncertain significance Single submitter
- DIXDC1 p.Pro194Leu Uncertain significance Single submitter
- DIXDC1 p.Pro42Ala Uncertain significance Single submitter
- DIXDC1 p.Ser218Phe Uncertain significance Single submitter
- DIXDC1 p.Ser522Arg Uncertain significance Single submitter
- DIXDC1 p.Thr102Ala Uncertain significance Single submitter
- DIXDC1 p.Thr133Met Uncertain significance Single submitter
- DIXDC1 p.Val134Met Uncertain significance Single submitter
All DIXDC1 variants
Likely pathogenic 1
- p.Arg265Ter No assertion criteria obesity disorder
Benign 3
- p.Asn19Asp Multiple submitters
- p.Asp608= Multiple submitters
- p.Ser346= Single submitter
Uncertain significance 34
- p.Ala156Pro Single submitter ⚠
- p.Ala25Pro Single submitter ⚠
- p.Ala39Val Single submitter ⚠
- p.Arg138Gln Single submitter ⚠
- p.Arg199Gln Single submitter ⚠
- p.Arg199Trp Single submitter ⚠
- p.Arg268Trp Single submitter ⚠
- p.Arg47Gln Single submitter ⚠
- p.Arg98His Single submitter ⚠
- p.Asp165Asn Single submitter ⚠
- p.Asp45Asn Single submitter ⚠
- p.Asp45Gly Single submitter ⚠
- p.Asp608Glu Single submitter ⚠
- p.Glu214Lys Single submitter ⚠
- p.Glu232Lys Single submitter ⚠
- p.Glu61Lys Single submitter ⚠
- p.Glu677Gly Single submitter ⚠
- p.Gly369Glu Single submitter ⚠
- p.Gly428Arg Single submitter ⚠
- p.His125Asp Single submitter ⚠
- p.Leu469Phe Single submitter ⚠
- p.Leu73Gln Single submitter ⚠
- p.Leu73Val Single submitter ⚠
- p.Lys425Gln Single submitter ⚠
- p.Pro194Leu Single submitter ⚠
- p.Pro212Leu Single submitter ⚠
- p.Pro42Ala Single submitter ⚠
- p.Ser218Phe Single submitter ⚠
- p.Ser231Arg Single submitter ⚠
- p.Ser522Arg Single submitter ⚠
- p.Thr102Ala Single submitter ⚠
- p.Thr133Met Single submitter ⚠
- p.Val134Met Single submitter ⚠
- p.Val177Ile Single submitter ⚠