Sugi Variant

Sugi Variant/ERCC6

ERCC6 — 1889 ClinVar variants

All ClinVar germline ERCC6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 536 flagged for review →

158 Pathogenic · 34 Pathogenic/Likely pathogenic · 143 Likely pathogenic · 115 Conflicting · 76 Benign · 20 Benign/Likely benign · 807 Likely benign · 536 Uncertain significance

Full ERCC6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 536

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 3

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

Predictors agree, ClinVar conflicts 45

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

Predictors lean, ClinVar uncertain 314

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 314

Predictors split 174

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 174

All ERCC6 variants

Pathogenic 158

Pathogenic/Likely pathogenic 34

  • c.1526+1G>T Multiple submitters Cockayne spectrum with or without cerebrooculofacioskeletal syndrome
  • c.2170-1G>A Multiple submitters UV-sensitive syndrome 1
  • c.2286+1G>A Multiple submitters age related macular degeneration 5
  • c.2287-2A>G Multiple submitters premature ovarian failure 11
  • c.2599-26A>G Multiple submitters ERCC6-related disorder
  • c.2709+1G>T Multiple submitters ERCC6-related disorder
  • c.4063-1G>C Multiple submitters Cockayne spectrum with or without cerebrooculofacioskeletal syndrome
  • c.544-1G>A Multiple submitters
  • p.Ala1167fs Multiple submitters Cockayne syndrome type 2
  • p.Arg1087Ter Multiple submitters Cockayne syndrome type 2
  • p.Arg1318fs Multiple submitters de Sanctis-Cacchione syndrome
  • p.Arg612Ter Multiple submitters Inborn genetic diseases
  • p.Arg652Ter Multiple submitters Cockayne syndrome
  • p.Arg683Ter Multiple submitters cerebrooculofacioskeletal syndrome 1
  • p.Arg947Ter Multiple submitters age related macular degeneration 5
  • p.Cys573fs Multiple submitters cerebrooculofacioskeletal syndrome 1
  • p.Gln156Ter Multiple submitters cerebrooculofacioskeletal syndrome 1
  • p.Gln192Ter Multiple submitters Cockayne syndrome type 2
  • p.Gln580Ter Multiple submitters cerebrooculofacioskeletal syndrome 1
  • p.Gln723Ter Multiple submitters ERCC6-related disorder
  • p.Glu119Ter Multiple submitters Cockayne syndrome type 2
  • p.Glu14fs Multiple submitters Cockayne syndrome
  • p.Glu356Ter Multiple submitters ERCC6-related disorder
  • p.Gly347fs Multiple submitters Cockayne syndrome type 2
  • p.Ile931fs Multiple submitters cerebrooculofacioskeletal syndrome 1
  • p.Leu536Trp Multiple submitters Cockayne syndrome type 2
  • p.Leu700fs Multiple submitters Cockayne syndrome type 2
  • p.Lys255Ter Multiple submitters Cockayne syndrome type 2
  • p.Lys506fs Multiple submitters de Sanctis-Cacchione syndrome
  • p.Lys971fs Multiple submitters cerebrooculofacioskeletal syndrome 1
  • p.Pro70fs Multiple submitters UV-sensitive syndrome 1
  • p.Trp640Ter Multiple submitters Cockayne syndrome type 2
  • p.Trp686Ter Multiple submitters Cockayne syndrome type 2
  • p.Trp851Arg Multiple submitters Cockayne syndrome

Likely pathogenic 143

Conflicting classifications of pathogenicity 115

Benign 76

Benign/Likely benign 20

Likely benign 807

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

Uncertain significance 536

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