Sugi Variant

Sugi Variant/ANTXR2

ANTXR2 — 308 ClinVar variants

All ClinVar germline ANTXR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →

15 Pathogenic · 3 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 4 Conflicting · 53 Benign · 10 Benign/Likely benign · 50 Likely benign · 150 Uncertain significance

Full ANTXR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 62

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 lean, ClinVar uncertain 36

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

Predictors split 26

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

All ANTXR2 variants

Pathogenic 15

  • p.Ala359fs Multiple submitters hyaline fibromatosis syndrome
  • c.1347+1G>T Single submitter hyaline fibromatosis syndrome
  • c.945+2T>A Single submitter hyaline fibromatosis syndrome
  • p.Ala357fs Single submitter hyaline fibromatosis syndrome
  • p.Arg432Ter Single submitter hyaline fibromatosis syndrome
  • p.Glu423fs Single submitter
  • p.Pro358fs Single submitter hyaline fibromatosis syndrome
  • p.Tyr380fs Single submitter hyaline fibromatosis syndrome
  • p.Glu220Ter No assertion criteria hyaline fibromatosis syndrome
  • p.Glu393= No assertion criteria hyaline fibromatosis syndrome
  • p.Gly105Asp No assertion criteria hyaline fibromatosis syndrome
  • p.Ile189Thr No assertion criteria hyaline fibromatosis syndrome
  • p.Leu329Arg No assertion criteria hyaline fibromatosis syndrome
  • p.Ser302fs No assertion criteria hyaline fibromatosis syndrome
  • p.Tyr381Cys No assertion criteria hyaline fibromatosis syndrome ⚠

Pathogenic/Likely pathogenic 3

  • p.Cys218Arg Multiple submitters hyaline fibromatosis syndrome
  • p.Leu45Pro Multiple submitters hyaline fibromatosis syndrome
  • p.Ser240fs Multiple submitters hyaline fibromatosis syndrome

Likely pathogenic 23

  • c.1087-1G>A Multiple submitters hyaline fibromatosis syndrome
  • c.1086+1G>A Single submitter ANTXR2-related disorder
  • c.1179+1G>C Single submitter hyaline fibromatosis syndrome
  • c.297-13A>G Single submitter hyaline fibromatosis syndrome
  • c.297-1G>A Single submitter hyaline fibromatosis syndrome
  • c.297-2del Single submitter hyaline fibromatosis syndrome
  • c.487-2A>G Single submitter hyaline fibromatosis syndrome
  • c.697+1G>A Single submitter ANTXR2-related disorder
  • c.698-2A>G Single submitter hyaline fibromatosis syndrome
  • p.Arg429fs Single submitter hyaline fibromatosis syndrome
  • p.Arg79Ile Single submitter hyaline fibromatosis syndrome
  • p.Glu71fs Single submitter hyaline fibromatosis syndrome
  • p.Gly382Cys Single submitter ⚠
  • p.Gly397_Asp398insTer Single submitter hyaline fibromatosis syndrome
  • p.Ile334fs Single submitter hyaline fibromatosis syndrome
  • p.Leu21fs Single submitter hyaline fibromatosis syndrome
  • p.Leu45Arg Single submitter
  • p.Pro226Leu Single submitter hyaline fibromatosis syndrome ⚠
  • p.Ser81Pro Single submitter hyaline fibromatosis syndrome
  • p.Trp373fs Single submitter hyaline fibromatosis syndrome
  • p.Tyr257Ter Single submitter hyaline fibromatosis syndrome
  • p.Glu289fs No assertion criteria hyaline fibromatosis syndrome
  • p.Ser166fs No assertion criteria hyaline fibromatosis syndrome

Conflicting classifications of pathogenicity 4

  • c.1347+9C>T Single submitter hyaline fibromatosis syndrome
  • c.945+7A>G Single submitter hyaline fibromatosis syndrome
  • p.Ala454Thr Single submitter hyaline fibromatosis syndrome ⚠
  • p.Phe65= Single submitter hyaline fibromatosis syndrome

Benign 53

Benign/Likely benign 10

  • c.378+8A>C Multiple submitters hyaline fibromatosis syndrome
  • c.637-10dup Multiple submitters
  • c.796+9C>T Multiple submitters hyaline fibromatosis syndrome
  • c.-590A>T Multiple submitters hyaline fibromatosis syndrome
  • p.Ala357Pro Multiple submitters hyaline fibromatosis syndrome
  • p.Arg111Cys Multiple submitters hyaline fibromatosis syndrome ⚠
  • p.Asp108= Multiple submitters hyaline fibromatosis syndrome
  • p.Pro356= Multiple submitters hyaline fibromatosis syndrome
  • p.Tyr257= Multiple submitters
  • p.Val270Ile Multiple submitters hyaline fibromatosis syndrome

Likely benign 50

Uncertain significance 150