Sugi Variant

Sugi Variant/GDF5

GDF5 — 477 ClinVar variants

All ClinVar germline GDF5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 209 flagged for review →

31 Pathogenic · 9 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 17 Conflicting · 17 Benign · 15 Benign/Likely benign · 169 Likely benign · 207 Uncertain significance

Full GDF5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 209

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 151

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 151

Predictors split 49

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

All GDF5 variants

Pathogenic 31

Pathogenic/Likely pathogenic 9

  • p.Ala382fs Multiple submitters acromesomelic dysplasia 2A
  • p.Arg100fs Multiple submitters GDF5-related disorder
  • p.Arg156Ter Multiple submitters GDF5-related disorder
  • p.Arg301Ter Multiple submitters multiple synostoses syndrome 2 ⚠
  • p.Arg380Gln Multiple submitters GDF5-related disorder ⚠
  • p.Gln210Ter Multiple submitters
  • p.Gly271Ter Multiple submitters acromesomelic dysplasia 2C, Hunter-Thompson type
  • p.Leu53fs Multiple submitters brachydactyly type C
  • p.Trp297Ter Multiple submitters Inborn genetic diseases

Likely pathogenic 12

  • p.Cys400Tyr Multiple submitters brachydactyly type A1C
  • p.Asp184fs Single submitter GDF5-related disorder
  • p.Gln262fs Single submitter acromesomelic dysplasia 2C, Hunter-Thompson type
  • p.Gln33Ter Single submitter GDF5-related disorder
  • p.Gly389fs Single submitter brachydactyly type C
  • p.Ser143fs Single submitter acromesomelic dysplasia 2A
  • p.Ser266fs Single submitter
  • p.Ser270fs Single submitter GDF5-related disorder
  • p.Tyr372fs Single submitter GDF5-related disorder
  • p.Tyr490Ter Single submitter GDF5-related disorder
  • p.Cys433Ter No assertion criteria acromesomelic dysplasia 2A
  • p.Cys466Tyr No assertion criteria brachydactyly type C

Conflicting classifications of pathogenicity 17

Benign 17

Benign/Likely benign 15

Likely benign 169

Uncertain significance 207