Sugi Variant

Sugi Variant/CYP2U1

CYP2U1 — 354 ClinVar variants

All ClinVar germline CYP2U1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 172 flagged for review →

30 Pathogenic · 8 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 23 Conflicting · 17 Benign · 4 Benign/Likely benign · 89 Likely benign · 170 Uncertain significance

Full CYP2U1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 172

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 16

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

Predictors lean, ClinVar uncertain 124

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

Predictors split 31

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

All CYP2U1 variants

Pathogenic 30

  • p.Arg466Ter Multiple submitters hereditary spastic paraplegia 56
  • p.Glu404fs Multiple submitters Spastic paraplegia
  • p.His182fs Multiple submitters hereditary spastic paraplegia 56
  • p.Tyr114Ter Multiple submitters Spastic paraplegia
  • c.1288+1G>A Single submitter hereditary spastic paraplegia
  • p.Asn334fs Single submitter hereditary spastic paraplegia 56
  • p.Asp316fs Single submitter Spastic paraplegia
  • p.Cys219fs Single submitter Spastic paraplegia
  • p.Cys364fs Single submitter Spastic paraplegia
  • p.Cys490Tyr Single submitter hereditary spastic paraplegia 56
  • p.Gln315Ter Single submitter hereditary spastic paraplegia 56
  • p.Gln399fs Single submitter
  • p.Ile261_Cys262insTer Single submitter
  • p.Ile301fs Single submitter
  • p.Ile345fs Single submitter Spastic paraplegia
  • p.Leu235Ter Single submitter
  • p.Leu362fs Single submitter hereditary spastic paraplegia 56
  • p.Lys285fs Single submitter Spastic paraplegia
  • p.Met1Leu Single submitter hereditary spastic paraplegia 56
  • p.Phe218fs Single submitter Spastic paraplegia
  • p.Phe297fs Single submitter Spastic paraplegia
  • p.Trp16Ter Single submitter Spastic paraplegia
  • p.Glu202Lys No assertion criteria intellectual disability
  • p.Glu380Gly No assertion criteria hereditary spastic paraplegia 56 ⚠
  • p.His305Tyr No assertion criteria hereditary spastic paraplegia 56
  • p.Ile436Thr No assertion criteria hereditary spastic paraplegia 56
  • p.Leu21fs No assertion criteria hereditary spastic paraplegia 56
  • p.Pro14fs No assertion criteria hereditary spastic paraplegia 56
  • p.Pro464Arg No assertion criteria hereditary spastic paraplegia 56
  • p.Val270fs No assertion criteria hereditary spastic paraplegia 56

Pathogenic/Likely pathogenic 8

  • p.Arg384fs Multiple submitters Spastic paraplegia
  • p.Arg390Ter Multiple submitters Spastic paraplegia
  • p.Arg488Trp Multiple submitters hereditary spastic paraplegia 56
  • p.Asp316Val Multiple submitters CYP2U1-related disorders
  • p.Cys262Arg Multiple submitters hereditary spastic paraplegia 56 ⚠
  • p.Gly115Ser Multiple submitters Spastic paraplegia
  • p.Ile158fs Multiple submitters Spastic paraplegia
  • p.Lys299Ter Multiple submitters hereditary spastic paraplegia 56

Likely pathogenic 13

Conflicting classifications of pathogenicity 23

Benign 17

Benign/Likely benign 4

Likely benign 89

Uncertain significance 170