Sugi Variant

Sugi Variant/HELLS

HELLS — 470 ClinVar variants

All ClinVar germline HELLS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 147 flagged for review →

15 Pathogenic · 6 Likely pathogenic · 6 Conflicting · 12 Benign · 11 Benign/Likely benign · 258 Likely benign · 162 Uncertain significance

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

⚑ Evidence disagreements 147

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 1

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

Predictors lean, ClinVar uncertain 114

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

Predictors split 32

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

All HELLS variants

Pathogenic 15

Likely pathogenic 6

Conflicting classifications of pathogenicity 6

  • p.Glu120= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 4
  • p.Glu307= Single submitter
  • p.His345= Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 4
  • p.Ile728Val Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 4 ⚠
  • p.Met1Thr Single submitter immunodeficiency-centromeric instability-facial anomalies syndrome 4
  • p.Thr663Met Single submitter Inborn genetic diseases ⚠

Benign 12

  • c.31+20T>C Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 4
  • p.Gln90= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 4
  • p.Glu655= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 4
  • p.Ile77= Multiple submitters immunodeficiency-centromeric instability-facial anomalies syndrome 4
  • c.1033-5del Single submitter
  • c.1230-10dup Single submitter
  • c.1488+6G>A Single submitter
  • c.1851+11del Single submitter
  • c.2249-3del Single submitter
  • c.2422+21del Single submitter
  • c.371-14dup Single submitter
  • c.371-5del Single submitter

Benign/Likely benign 11

Likely benign 258

Uncertain significance 162