Sugi Variant

Sugi Variant/HK1

HK1 — 896 ClinVar variants

All ClinVar germline HK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 413 flagged for review →

11 Pathogenic · 5 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 30 Conflicting · 28 Benign · 25 Benign/Likely benign · 317 Likely benign · 459 Uncertain significance

Full HK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 413

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 10

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

Predictors lean, ClinVar uncertain 285

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 285

Predictors split 116

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

All HK1 variants

Pathogenic 11

Pathogenic/Likely pathogenic 5

  • p.Arg7Ter Multiple submitters Charcot-Marie-Tooth disease type 4G
  • p.Arg94Gln Multiple submitters non-spherocytic hemolytic anemia due to hexokinase deficiency ⚠
  • p.Glu847Lys Multiple submitters HK1-related disorder ⚠
  • p.Ser445Leu Multiple submitters HK1-related disorder
  • p.Thr457Met Multiple submitters neurodevelopmental disorder with visual defects and brain anomalies

Likely pathogenic 21

  • p.Lys418Glu Multiple submitters neurodevelopmental disorder with visual defects and brain anomalies
  • c.226+2T>A Single submitter
  • c.226+4919T>G Single submitter
  • c.691+1G>A Single submitter
  • c.876-2A>T Single submitter
  • p.Asp266Asn Single submitter neurodevelopmental disorder with visual defects and brain anomalies
  • p.Gln372Ter Single submitter non-spherocytic hemolytic anemia due to hexokinase deficiency
  • p.Gly414Arg Single submitter
  • p.Gly452Arg Single submitter non-spherocytic hemolytic anemia due to hexokinase deficiency
  • p.His868Tyr Single submitter HK1-related disorder
  • p.Lys785Met Single submitter neurodevelopmental disorder with visual defects and brain anomalies
  • p.Met1Leu Single submitter non-spherocytic hemolytic anemia due to hexokinase deficiency
  • p.Met1Thr Single submitter Charcot-Marie-Tooth disease type 4G
  • p.Met1Val Single submitter Charcot-Marie-Tooth disease type 4G
  • p.Phe137Ile Single submitter inherited retinal dystrophy
  • p.Phe515fs Single submitter neurodevelopmental disorder with visual defects and brain anomalies
  • p.Ser298fs Single submitter
  • p.Ser445Trp Single submitter HK1-related disorder
  • p.Thr457Arg Single submitter neurodevelopmental disorder with visual defects and brain anomalies
  • p.Thr457Lys Single submitter neurodevelopmental disorder with visual defects and brain anomalies
  • p.Ala205fs No assertion criteria retinitis pigmentosa 79

Conflicting classifications of pathogenicity 30

Benign 28

Benign/Likely benign 25

Likely benign 317

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

Uncertain significance 459

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