Sugi Variant

Sugi Variant/ALPK1

ALPK1 — 917 ClinVar variants

All ClinVar germline ALPK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 521 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 40 Conflicting · 57 Benign · 19 Benign/Likely benign · 251 Likely benign · 547 Uncertain significance

Full ALPK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 521

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 3

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

Predictors agree, ClinVar conflicts 27

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

Predictors lean, ClinVar uncertain 338

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 338

Predictors split 153

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 153

All ALPK1 variants

Pathogenic 2

  • p.Thr237Met Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr254Cys No assertion criteria retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome ⚠

Likely pathogenic 1

  • p.Ser277Phe Single submitter retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome ⚠

Conflicting classifications of pathogenicity 40

Benign 57

Benign/Likely benign 19

Likely benign 251

Uncertain significance 547

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