Sugi Variant

Sugi Variant/AP2S1

AP2S1 — 132 ClinVar variants

All ClinVar germline AP2S1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Conflicting · 10 Benign · 4 Benign/Likely benign · 74 Likely benign · 37 Uncertain significance

Full AP2S1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 30

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 21

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

Predictors split 8

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

All AP2S1 variants

Pathogenic 2

  • p.Arg15Cys Multiple submitters familial hypocalciuric hypercalcemia 3
  • p.Arg15Leu Multiple submitters familial hypocalciuric hypercalcemia 3

Pathogenic/Likely pathogenic 1

  • p.Arg15His Multiple submitters Familial hyperparathyroidism or Hypocalciuric hypercalcaemia

Conflicting classifications of pathogenicity 4

  • c.153+6G>A Single submitter
  • c.267+7C>T Single submitter familial hypocalciuric hypercalcemia 3
  • p.Arg10Trp Single submitter AP2S1-related disorder ⚠
  • p.Phe95= Single submitter familial hypocalciuric hypercalcemia 3

Benign 10

Benign/Likely benign 4

  • c.3+41dup Multiple submitters
  • c.4-14_4-12del Multiple submitters familial hypocalciuric hypercalcemia 3
  • p.Ala37= Multiple submitters familial hypocalciuric hypercalcemia 3
  • p.Phe87= Multiple submitters familial hypocalciuric hypercalcemia 3

Likely benign 74

Uncertain significance 37