Sugi Variant

Sugi Variant/HERC1

HERC1 — 1800 ClinVar variants

All ClinVar germline HERC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 523 flagged for review →

25 Pathogenic · 2 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 18 Conflicting · 176 Benign · 60 Benign/Likely benign · 630 Likely benign · 862 Uncertain significance

Full HERC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 523

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 7

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

Predictors lean, ClinVar uncertain 420

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 420

Predictors split 96

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

All HERC1 variants

Pathogenic 25

Pathogenic/Likely pathogenic 2

Likely pathogenic 27

Conflicting classifications of pathogenicity 18

  • c.13612-8T>A Single submitter macrocephaly, dysmorphic facies, and psychomotor retardation
  • c.9223+9_9223+13del Single submitter HERC1-related disorder
  • p.Ala3228Thr Single submitter
  • p.Arg4829His Single submitter macrocephaly, dysmorphic facies, and psychomotor retardation
  • p.Asn2267Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn773= Single submitter macrocephaly, dysmorphic facies, and psychomotor retardation
  • p.Glu1495Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu3091= Single submitter HERC1-related disorder
  • p.Gly1125Asp Single submitter macrocephaly, dysmorphic facies, and psychomotor retardation ⚠
  • p.Lys1544Arg Single submitter macrocephaly, dysmorphic facies, and psychomotor retardation ⚠
  • p.Met1548Thr Single submitter Inborn genetic diseases ⚠
  • p.Met3642Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser4119= Single submitter
  • p.Thr1318Arg Single submitter macrocephaly, dysmorphic facies, and psychomotor retardation
  • p.Thr420Met Single submitter
  • p.Val1981Ile Single submitter Inborn genetic diseases ⚠
  • p.Val3803Ile Single submitter macrocephaly, dysmorphic facies, and psychomotor retardation ⚠
  • p.Val4032= Single submitter multiple congenital anomalies/dysmorphic syndrome

Benign 176

Benign/Likely benign 60

Likely benign 630

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

Uncertain significance 862

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