Sugi Variant

Sugi Variant/FXYD2

FXYD2 — 96 ClinVar variants

All ClinVar germline FXYD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →

1 Pathogenic · 3 Conflicting · 24 Benign · 8 Benign/Likely benign · 29 Likely benign · 31 Uncertain significance

Full FXYD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 17

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 10

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

Predictors split 5

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

All FXYD2 variants

Pathogenic 1

  • p.Gly41Arg Single submitter renal hypomagnesemia 2

Conflicting classifications of pathogenicity 3

Benign 24

Benign/Likely benign 8

  • c.*1C>T Multiple submitters renal hypomagnesemia 2
  • c.*6+6C>A Multiple submitters renal hypomagnesemia 2
  • p.Gly30= Multiple submitters renal hypomagnesemia 2
  • p.Ile61= Multiple submitters renal hypomagnesemia 2
  • p.Leu42= Multiple submitters renal hypomagnesemia 2
  • p.Pro66= Multiple submitters renal hypomagnesemia 2
  • p.Thr25= Multiple submitters
  • p.Val26Ile Multiple submitters renal hypomagnesemia 2

Likely benign 29

Uncertain significance 31