Sugi Variant

Sugi Variant/DVL1

DVL1 — 810 ClinVar variants

All ClinVar germline DVL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 374 flagged for review →

14 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 52 Conflicting · 84 Benign · 12 Benign/Likely benign · 314 Likely benign · 328 Uncertain significance

Full DVL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 374

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 agree, ClinVar conflicts 23

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 125

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

Predictors split 226

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 226

All DVL1 variants

Pathogenic 14

  • p.Ser567fs Multiple submitters autosomal dominant Robinow syndrome 2
  • p.Trp532fs Multiple submitters autosomal dominant Robinow syndrome 2
  • p.Gly535fs Single submitter autosomal dominant Robinow syndrome 2
  • p.Gly544fs Single submitter autosomal dominant Robinow syndrome 2
  • p.His527fs Single submitter autosomal dominant Robinow syndrome 2
  • p.Phe549fs Single submitter autosomal dominant Robinow syndrome 2
  • p.Pro528fs Single submitter autosomal dominant Robinow syndrome 2
  • p.Pro533fs Single submitter autosomal dominant Robinow syndrome 2
  • p.Pro546fs Single submitter autosomal dominant Robinow syndrome 1
  • p.Ser564fs Single submitter autosomal dominant Robinow syndrome 2
  • p.Thr516fs Single submitter autosomal dominant Robinow syndrome 2
  • p.Tyr377Ter Single submitter
  • p.Pro551fs No assertion criteria autosomal dominant Robinow syndrome 2
  • p.Pro556fs No assertion criteria autosomal dominant Robinow syndrome 2

Pathogenic/Likely pathogenic 1

  • p.Pro524fs Multiple submitters autosomal dominant Robinow syndrome 2

Likely pathogenic 5

  • c.363-1G>C Single submitter autosomal dominant Robinow syndrome 2
  • p.Ser562fs Single submitter autosomal dominant Robinow syndrome 1
  • p.Thr565fs Single submitter
  • p.Val445fs Single submitter
  • c.1715-1G>A No assertion criteria autosomal dominant Robinow syndrome 2

Conflicting classifications of pathogenicity 52

Benign 84

Benign/Likely benign 12

Likely benign 314

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 328

Showing the top 300 by review status; the full set is in the sitemap.