Sugi Variant

Sugi Variant/FRMPD4

FRMPD4 — 551 ClinVar variants

All ClinVar germline FRMPD4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 331 flagged for review →

7 Pathogenic · 15 Likely pathogenic · 23 Conflicting · 17 Benign · 16 Benign/Likely benign · 118 Likely benign · 355 Uncertain significance

Full FRMPD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 331

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 1

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

Predictors agree, ClinVar conflicts 15

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

Predictors lean, ClinVar uncertain 251

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 251

Predictors split 64

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

All FRMPD4 variants

Pathogenic 7

Likely pathogenic 15

  • c.1071-1G>A Single submitter intellectual disability, X-linked 104
  • c.3964+1G>A Single submitter intellectual disability, X-linked 104
  • c.561_573+2delinsA Single submitter
  • p.Arg1087fs Single submitter intellectual disability, X-linked 104
  • p.Arg934fs Single submitter intellectual disability, X-linked 104
  • p.Asn187fs Single submitter intellectual disability, X-linked 104
  • p.Asp1009fs Single submitter Neurodevelopmental delay
  • p.Asp1009Ter Single submitter intellectual disability, X-linked 104
  • p.Cys553Arg Single submitter intellectual disability, X-linked 104 ⚠
  • p.Gln1049fs Single submitter intellectual disability, X-linked 104
  • p.Gln643Ter Single submitter intellectual disability, X-linked 104
  • p.Lys1037fs Single submitter
  • p.Lys433fs Single submitter intellectual disability, X-linked 104
  • p.Ser384Ter Single submitter intellectual disability, X-linked 104
  • p.Tyr445Ter Single submitter intellectual disability, X-linked 104

Conflicting classifications of pathogenicity 23

Benign 17

Benign/Likely benign 16

Likely benign 118

Uncertain significance 355

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