Sugi Variant

Sugi Variant/KDSR

KDSR — 64 ClinVar variants

All ClinVar germline KDSR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →

3 Pathogenic · 5 Likely pathogenic · 4 Benign · 6 Likely benign · 46 Uncertain significance

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

⚑ Evidence disagreements 45

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 31

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

Predictors split 14

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

All KDSR variants

Pathogenic 3

  • c.256-2A>C No assertion criteria erythrokeratodermia variabilis et progressiva 4
  • p.Gln55_Gly56delinsArg No assertion criteria erythrokeratodermia variabilis et progressiva 4
  • p.Tyr186Phe No assertion criteria erythrokeratodermia variabilis et progressiva 4

Likely pathogenic 5

  • p.Gln293= Multiple submitters erythrokeratodermia variabilis et progressiva 4
  • c.198+1G>A Single submitter KDSR-related disorders
  • p.Arg64Ter Single submitter erythrokeratodermia variabilis et progressiva 4
  • p.Gly182Ser Single submitter erythrokeratodermia variabilis et progressiva 4
  • p.Phe138Cys Single submitter

Benign 4

Likely benign 6

Uncertain significance 46