Sugi Variant

Sugi Variant/F12

F12 — 233 ClinVar variants

All ClinVar germline F12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 107 flagged for review →

9 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 20 Conflicting · 18 Benign · 11 Benign/Likely benign · 48 Likely benign · 116 Uncertain significance

Full F12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 107

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 4

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

Predictors lean, ClinVar uncertain 51

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

Predictors split 50

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

All F12 variants

Pathogenic 9

Pathogenic/Likely pathogenic 2

Likely pathogenic 9

  • p.Gly506fs Multiple submitters congenital factor XII deficiency
  • c.1681-1G>C Single submitter congenital factor XII deficiency
  • c.800+1G>A Single submitter
  • c.800+1G>C Single submitter
  • p.Cys104Ter Single submitter hereditary angioedema type 3
  • p.Gln139Ter Single submitter congenital factor XII deficiency
  • p.Gln459Ter Single submitter congenital factor XII deficiency
  • p.Glu521Lys Single submitter congenital factor XII deficiency
  • p.Tyr386Ter Single submitter congenital factor XII deficiency

Conflicting classifications of pathogenicity 20

  • c.1018+11G>T Single submitter congenital factor XII deficiency
  • c.1018+12G>C Single submitter hereditary angioedema type 3
  • c.1018+13G>C Single submitter congenital factor XII deficiency
  • c.1018+14G>T Single submitter hereditary angioedema type 3
  • c.1251-9C>A Single submitter hereditary angioedema type 3
  • c.1387+4C>G Single submitter congenital factor XII deficiency
  • c.1681-1G>A Single submitter F12-related disorder
  • c.-3G>A Single submitter hereditary angioedema type 3
  • p.Cys98Tyr Single submitter Inborn genetic diseases ⚠
  • p.Glu253Gln Single submitter Inborn genetic diseases ⚠
  • p.Gly116= Single submitter hereditary angioedema type 3
  • p.Leu140Val Single submitter hereditary angioedema type 3 ⚠
  • p.Leu14Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu40= Single submitter congenital factor XII deficiency
  • p.Pro342Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser308Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ser369= Single submitter hereditary angioedema type 3
  • p.Thr43= Single submitter hereditary angioedema type 3
  • p.Val39Ile Single submitter ⚠
  • p.Val568= Single submitter congenital factor XII deficiency

Benign 18

Benign/Likely benign 11

  • c.1018+19dup Multiple submitters
  • c.1251-5dup Multiple submitters
  • c.1681-7G>A Multiple submitters hereditary angioedema type 3
  • c.398-12C>T Multiple submitters hereditary angioedema type 3
  • p.Ala343Pro Multiple submitters congenital factor XII deficiency
  • p.Arg310Ser Multiple submitters hereditary angioedema type 3
  • p.Arg448Cys Multiple submitters hereditary angioedema type 3 ⚠
  • p.Asn433= Multiple submitters hereditary angioedema type 3
  • p.Pro237= Multiple submitters hereditary angioedema type 3
  • p.Ser479= Multiple submitters
  • p.Thr424= Multiple submitters hereditary angioedema type 3

Likely benign 48

Uncertain significance 116