Sugi Variant

Sugi Variant/OFD1

OFD1 — 1210 ClinVar variants

All ClinVar germline OFD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 502 flagged for review →

90 Pathogenic · 8 Pathogenic/Likely pathogenic · 61 Likely pathogenic · 84 Conflicting · 47 Benign · 56 Benign/Likely benign · 325 Likely benign · 539 Uncertain significance

Full OFD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 502

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 4

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

Predictors agree, ClinVar conflicts 55

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

Predicted LoF vs a conflicting call 6

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 381

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 381

Predictors split 56

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

All OFD1 variants

Pathogenic 90

Pathogenic/Likely pathogenic 8

  • c.2600-1G>C Multiple submitters orofaciodigital syndrome I
  • p.Arg205fs Multiple submitters orofaciodigital syndrome I
  • p.Arg890Ter Multiple submitters Joubert syndrome
  • p.Arg909Ter Multiple submitters OFD1-related disorder
  • p.Gln966Ter Multiple submitters OFD1-related disorder
  • p.Leu535fs Multiple submitters Simpson-Golabi-Behmel syndrome type 2
  • p.Lys455fs Multiple submitters orofaciodigital syndrome I
  • p.Thr551fs Multiple submitters kidney failure

Likely pathogenic 61

Conflicting classifications of pathogenicity 84

Benign 47

Benign/Likely benign 56

Likely benign 325

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

Uncertain significance 539

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