Sugi Variant

Sugi Variant/HERC2

HERC2 — 1355 ClinVar variants

All ClinVar germline HERC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 553 flagged for review →

9 Pathogenic · 1 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 34 Conflicting · 29 Benign · 20 Benign/Likely benign · 363 Likely benign · 882 Uncertain significance

Full HERC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 553

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 26

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

Predictors lean, ClinVar uncertain 483

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 483

Predictors split 44

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

All HERC2 variants

Pathogenic 9

  • c.11701-1G>A Single submitter Prader-Willi syndrome
  • p.Ala947fs Single submitter developmental delay with autism spectrum disorder and gait instability
  • p.Arg213Ter Single submitter
  • p.Arg390Ter Single submitter developmental delay with autism spectrum disorder and gait instability
  • p.Gln4330Ter Single submitter
  • p.Ile2325_Leu2326insTer Single submitter Severe intellectual disability
  • p.Leu3237Ter Single submitter developmental delay with autism spectrum disorder and gait instability
  • p.Leu933fs Single submitter
  • p.Pro594Leu Single submitter developmental delay with autism spectrum disorder and gait instability

Pathogenic/Likely pathogenic 1

Likely pathogenic 17

  • c.4352-1G>A Multiple submitters
  • c.5846-1G>A Single submitter
  • c.7070-1G>C Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
  • c.7704_7716+5del Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
  • p.Arg198Ter Single submitter developmental delay with autism spectrum disorder and gait instability
  • p.Arg3740Ter Single submitter
  • p.Arg4427Ter Single submitter developmental delay with autism spectrum disorder and gait instability
  • p.Asn2570fs Single submitter developmental delay with autism spectrum disorder and gait instability
  • p.Cys4308fs Single submitter developmental delay with autism spectrum disorder and gait instability
  • p.Gln3341Ter Single submitter
  • p.Glu1652fs Single submitter
  • p.Glu4484Lys Single submitter
  • p.Gly2592fs Single submitter SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
  • p.Phe1129fs Single submitter developmental delay with autism spectrum disorder and gait instability
  • p.Phe6fs Single submitter HERC2-related disorders
  • p.Pro4696fs Single submitter developmental delay with autism spectrum disorder and gait instability
  • p.Thr4265fs Single submitter developmental delay with autism spectrum disorder and gait instability

Conflicting classifications of pathogenicity 34

Benign 29

Benign/Likely benign 20

Likely benign 363

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

Uncertain significance 882

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