Sugi Variant

Sugi Variant/SKIC3

SKIC3 — 1543 ClinVar variants

All ClinVar germline SKIC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 447 flagged for review →

100 Pathogenic · 20 Pathogenic/Likely pathogenic · 54 Likely pathogenic · 41 Conflicting · 48 Benign · 22 Benign/Likely benign · 781 Likely benign · 477 Uncertain significance

Full SKIC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 447

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 21

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

Predictors lean, ClinVar uncertain 337

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 337

Predictors split 89

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

All SKIC3 variants

Pathogenic 100

Pathogenic/Likely pathogenic 20

  • c.1633-2A>G Multiple submitters Fetal anomalies with a likely genetic cause
  • c.2921-1G>A Multiple submitters trichohepatoenteric syndrome 1
  • p.Arg1209Ter Multiple submitters trichohepatoenteric syndrome 1
  • p.Arg137Ter Multiple submitters trichohepatoenteric syndrome 1
  • p.Arg18fs Multiple submitters trichohepatoenteric syndrome 1
  • p.Gln1208Ter Multiple submitters trichohepatoenteric syndrome 1
  • p.Gln1370Ter Multiple submitters trichohepatoenteric syndrome 1
  • p.Glu948Ter Multiple submitters trichohepatoenteric syndrome 1
  • p.Ile276fs Multiple submitters TTC37-related disorders
  • p.Leu389fs Multiple submitters trichohepatoenteric syndrome
  • p.Lys1212fs Multiple submitters trichohepatoenteric syndrome
  • p.Lys434fs Multiple submitters TTC37-related disorders
  • p.Pro1270fs Multiple submitters trichohepatoenteric syndrome
  • p.Ser1083Ter Multiple submitters TTC37-related disorders
  • p.Ser1245fs Multiple submitters TTC37-related disorders
  • p.Ser271fs Multiple submitters TTC37-related disorders
  • p.Thr1018fs Multiple submitters TTC37-related disorders
  • p.Thr796fs Multiple submitters trichohepatoenteric syndrome 1
  • p.Trp77Ter Multiple submitters trichohepatoenteric syndrome 1
  • p.Tyr458Ter Multiple submitters trichohepatoenteric syndrome 1

Likely pathogenic 54

Conflicting classifications of pathogenicity 41

Benign 48

Benign/Likely benign 22

Likely benign 781

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

Uncertain significance 477

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