Sugi Variant

Sugi Variant/APPL1

APPL1 — 233 ClinVar variants

All ClinVar germline APPL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 4 Conflicting · 28 Benign · 9 Benign/Likely benign · 67 Likely benign · 123 Uncertain significance

Full APPL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 118

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 2

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

Predictors lean, ClinVar uncertain 71

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

Predictors split 45

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

All APPL1 variants

Pathogenic 1

  • p.Leu552Ter No assertion criteria maturity-onset diabetes of the young type 14

Likely pathogenic 1

Conflicting classifications of pathogenicity 4

Benign 28

Benign/Likely benign 9

  • c.1430+9dup Multiple submitters
  • c.622-17C>A Multiple submitters
  • p.Asp334Glu Multiple submitters maturity-onset diabetes of the young type 14
  • p.Glu67Gly Multiple submitters maturity-onset diabetes of the young type 14 ⚠
  • p.Leu86= Multiple submitters maturity-onset diabetes of the young type 14
  • p.Phe73= Multiple submitters maturity-onset diabetes of the young type 14
  • p.Pro402= Multiple submitters
  • p.Pro421Leu Multiple submitters maturity-onset diabetes of the young type 14
  • p.Thr12= Multiple submitters maturity-onset diabetes of the young type 14

Likely benign 67

Uncertain significance 123