Sugi Variant

Sugi Variant/SKIC2

SKIC2 — 1057 ClinVar variants

All ClinVar germline SKIC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 333 flagged for review →

70 Pathogenic · 11 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 30 Conflicting · 25 Benign · 13 Benign/Likely benign · 510 Likely benign · 363 Uncertain significance

Full SKIC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 333

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 246

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 246

Predictors split 76

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

All SKIC2 variants

Pathogenic 70

Pathogenic/Likely pathogenic 11

  • c.1404-2A>G Multiple submitters trichohepatoenteric syndrome 2
  • c.2203-1G>A Multiple submitters trichohepatoenteric syndrome 2
  • c.2341-1G>T Multiple submitters trichohepatoenteric syndrome 2
  • c.2341-2A>G Multiple submitters trichohepatoenteric syndrome 2
  • p.Arg253Ter Multiple submitters trichohepatoenteric syndrome 2
  • p.Arg79Ter Multiple submitters trichohepatoenteric syndrome
  • p.Gln233Ter Multiple submitters trichohepatoenteric syndrome 2
  • p.Glu816fs Multiple submitters SKIC2 & SKIV2L-related disorders
  • p.Gly546fs Multiple submitters trichohepatoenteric syndrome
  • p.Ser1045Ter Multiple submitters trichohepatoenteric syndrome
  • p.Ser1189_Leu1195del Multiple submitters trichohepatoenteric syndrome 2

Likely pathogenic 35

Conflicting classifications of pathogenicity 30

Benign 25

Benign/Likely benign 13

Likely benign 510

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

Uncertain significance 363

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