Sugi Variant

Sugi Variant/DYNLT2B

DYNLT2B — 72 ClinVar variants

All ClinVar germline DYNLT2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Conflicting · 7 Benign · 2 Benign/Likely benign · 26 Likely benign · 29 Uncertain significance

Full DYNLT2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 22

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 19

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

Predictors split 3

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

All DYNLT2B variants

Pathogenic 6

  • c.317+4A>T Single submitter short-rib thoracic dysplasia 17 with or without polydactyly
  • p.Arg88fs Single submitter
  • p.Gln36fs Single submitter
  • p.Glu65Ter Single submitter
  • p.Ser74Ter Single submitter
  • p.Val34fs No assertion criteria short-rib thoracic dysplasia 17 with or without polydactyly

Pathogenic/Likely pathogenic 1

  • p.Arg88Ter Multiple submitters DYNLT2B-related disorder

Conflicting classifications of pathogenicity 1

  • c.114-1G>A Single submitter short-rib thoracic dysplasia 17 with or without polydactyly

Benign 7

Benign/Likely benign 2

Likely benign 26

Uncertain significance 29