Sugi Variant

Sugi Variant/FGF23

FGF23 — 260 ClinVar variants

All ClinVar germline FGF23 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

5 Pathogenic · 3 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 15 Conflicting · 17 Benign · 8 Benign/Likely benign · 51 Likely benign · 157 Uncertain significance

Full FGF23 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 vs ClinVar 2

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

Predictors agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 100

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

Predictors split 10

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

All FGF23 variants

Pathogenic 5

  • p.Arg179Gln Multiple submitters FGF23-related disorder ⚠
  • p.Arg176Gln Single submitter autosomal dominant hypophosphatemic rickets ⚠
  • p.Arg176Trp Single submitter
  • p.Met96Thr No assertion criteria tumoral calcinosis, hyperphosphatemic, familial, 2
  • p.Ser129Phe No assertion criteria tumoral calcinosis, hyperphosphatemic, familial, 2

Pathogenic/Likely pathogenic 3

  • p.Arg179Trp Multiple submitters autosomal dominant hypophosphatemic rickets
  • p.Gly123Trp Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 1
  • p.Ser129Pro Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 2

Likely pathogenic 4

  • p.Gln54His Multiple submitters autosomal dominant hypophosphatemic rickets ⚠
  • c.211+1G>A Single submitter autosomal dominant hypophosphatemic rickets
  • p.Gly87Asp Single submitter familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
  • p.Pro172_Arg176del Single submitter autosomal dominant hypophosphatemic rickets

Conflicting classifications of pathogenicity 15

  • c.*1398T>A Single submitter tumoral calcinosis, hyperphosphatemic, familial, 2
  • c.*1772G>A Single submitter autosomal dominant hypophosphatemic rickets
  • c.*1803C>T Single submitter autosomal dominant hypophosphatemic rickets
  • c.*1886C>A Single submitter autosomal dominant hypophosphatemic rickets
  • c.*235C>T Single submitter tumoral calcinosis, hyperphosphatemic, familial, 2
  • p.Ala64Thr Single submitter ⚠
  • p.Arg187Gly Single submitter autosomal dominant hypophosphatemic rickets ⚠
  • p.Asp184Gly Single submitter tumoral calcinosis, hyperphosphatemic, familial, 2 ⚠
  • p.Glu111Lys Single submitter Inborn genetic diseases ⚠
  • p.Pro172Leu Single submitter autosomal dominant hypophosphatemic rickets ⚠
  • p.Pro30Ser Single submitter autosomal dominant hypophosphatemic rickets
  • p.Ser71Gly Single submitter autosomal dominant hypophosphatemic rickets ⚠
  • p.Thr46= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 2
  • p.Trp36Ter Single submitter
  • p.Val83= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 2

Benign 17

  • c.211+19T>C Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 2
  • c.212-103A>G Multiple submitters
  • c.*1429A>T Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 2
  • c.*23T>G Multiple submitters autosomal dominant hypophosphatemic rickets
  • p.Thr239Met Multiple submitters autosomal dominant hypophosphatemic rickets
  • c.211+153TG[8] Single submitter
  • c.212-238C>T Single submitter
  • c.212-37_212-36insC Single submitter
  • c.315+196A>G Single submitter
  • c.315+254dup Single submitter
  • c.*1079A>G Single submitter tumoral calcinosis, hyperphosphatemic, familial, 2
  • c.*1219C>T Single submitter tumoral calcinosis, hyperphosphatemic, familial, 2
  • c.*1316C>A Single submitter tumoral calcinosis, hyperphosphatemic, familial, 2
  • c.*1464T>C Single submitter tumoral calcinosis, hyperphosphatemic, familial, 2
  • c.*1471C>A Single submitter tumoral calcinosis, hyperphosphatemic, familial, 2
  • c.*1971T>C Single submitter autosomal dominant hypophosphatemic rickets
  • c.*553C>A Single submitter autosomal dominant hypophosphatemic rickets

Benign/Likely benign 8

  • c.315+15del Multiple submitters autosomal dominant hypophosphatemic rickets
  • c.-53C>G Multiple submitters autosomal dominant hypophosphatemic rickets
  • c.*29C>G Multiple submitters autosomal dominant hypophosphatemic rickets
  • p.Arg114= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 2
  • p.Pro195Ser Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 2
  • p.Ser185= Multiple submitters autosomal dominant hypophosphatemic rickets
  • p.Thr171= Multiple submitters
  • c.*2062A>C Single submitter autosomal dominant hypophosphatemic rickets

Likely benign 51

Uncertain significance 157