Sugi Variant

Sugi Variant/WASHC5

WASHC5 — 742 ClinVar variants

All ClinVar germline WASHC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 262 flagged for review →

18 Pathogenic · 5 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 39 Conflicting · 144 Benign · 19 Benign/Likely benign · 186 Likely benign · 313 Uncertain significance

Full WASHC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 262

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 agree, ClinVar conflicts 11

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

Predictors lean, ClinVar uncertain 128

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

Predictors split 123

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

All WASHC5 variants

Pathogenic 18

  • p.Leu619Phe Multiple submitters Ritscher-Schinzel syndrome
  • p.Trp475Ter Multiple submitters hereditary spastic paraplegia 8
  • p.Arg171Ter Single submitter Ritscher-Schinzel syndrome
  • p.Gln1055Ter Single submitter Ritscher-Schinzel syndrome
  • p.Gln78Ter Single submitter Inborn genetic diseases
  • p.Gln865fs Single submitter hereditary spastic paraplegia 8
  • p.Gln938Ter Single submitter Ritscher-Schinzel syndrome 1
  • p.Glu305Ter Single submitter hereditary spastic paraplegia 8
  • p.Leu1009fs Single submitter Ritscher-Schinzel syndrome
  • p.Lys481fs Single submitter Ritscher-Schinzel syndrome
  • p.Lys70fs Single submitter Ritscher-Schinzel syndrome 1
  • p.Phe882Tyr Single submitter hereditary spastic paraplegia 8 ⚠
  • p.Pro813fs Single submitter hereditary spastic paraplegia 8
  • p.Ser458fs Single submitter hereditary spastic paraplegia 8
  • p.Thr492Pro Single submitter hereditary spastic paraplegia 8 ⚠
  • p.Val814fs Single submitter Inborn genetic diseases
  • p.Asn471Asp No assertion criteria hereditary spastic paraplegia 8
  • p.Gly696Ala No assertion criteria hereditary spastic paraplegia 8

Pathogenic/Likely pathogenic 5

  • p.Gly696Asp Multiple submitters Ritscher-Schinzel syndrome
  • p.Gly696Ser Multiple submitters hereditary spastic paraplegia 8
  • p.Ser591Phe Multiple submitters hereditary spastic paraplegia 8
  • p.Ser591Pro Multiple submitters hereditary spastic paraplegia 8
  • p.Val626Phe Multiple submitters KIAA0196 & WASHC5-related disorders

Likely pathogenic 18

Conflicting classifications of pathogenicity 39

Benign 144

Benign/Likely benign 19

  • c.187-6dup Multiple submitters hereditary spastic paraplegia 8
  • c.2199+4C>A Multiple submitters hereditary spastic paraplegia 8
  • c.2668-19C>T Multiple submitters hereditary spastic paraplegia 8
  • c.2771-7T>C Multiple submitters hereditary spastic paraplegia 8
  • c.2851-18del Multiple submitters Ritscher-Schinzel syndrome
  • c.418-9T>G Multiple submitters hereditary spastic paraplegia 8
  • c.711+16A>G Multiple submitters hereditary spastic paraplegia 8
  • c.*3del Multiple submitters Spastic paraplegia
  • p.Ala240= Multiple submitters hereditary spastic paraplegia 8
  • p.Ile535= Multiple submitters hereditary spastic paraplegia 8
  • p.Leu145= Multiple submitters hereditary spastic paraplegia 8
  • p.Leu656= Multiple submitters hereditary spastic paraplegia 8
  • p.Leu829= Multiple submitters hereditary spastic paraplegia 8
  • p.Phe4= Multiple submitters Ritscher-Schinzel syndrome
  • p.Pro244= Multiple submitters hereditary spastic paraplegia 8
  • p.Pro606= Multiple submitters Ritscher-Schinzel syndrome
  • p.Val1107Met Multiple submitters Ritscher-Schinzel syndrome
  • p.Val289= Multiple submitters hereditary spastic paraplegia 8
  • p.Val700= Multiple submitters hereditary spastic paraplegia 8

Likely benign 186

Uncertain significance 313

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