HABP2 — 273 ClinVar variants

All ClinVar germline HABP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →

7 Conflicting · 48 Benign · 7 Benign/Likely benign · 41 Likely benign · 170 Uncertain significance

Full HABP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 131

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 109

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

All HABP2 variants

Conflicting classifications of pathogenicity 7

  • p.Ala251= Single submitter Factor VII-activating protease marburg I
  • p.Arg167Trp Single submitter ⚠
  • p.Gly460Ala Single submitter Factor VII-activating protease marburg I ⚠
  • p.Gly534Glu Single submitter thyroid cancer, nonmedullary, 5 ⚠
  • p.Leu59= Single submitter Factor VII-activating protease marburg I
  • p.Thr114= Single submitter Factor VII-activating protease marburg I
  • p.Tyr69= Single submitter Factor VII-activating protease marburg I

Benign 48

Benign/Likely benign 7

  • c.568+9C>T Multiple submitters Factor VII-activating protease marburg I
  • c.-10+2091T>C Multiple submitters
  • p.Arg122Trp Multiple submitters Factor VII-activating protease marburg I ⚠
  • p.Arg135= Multiple submitters Factor VII-activating protease marburg I
  • p.Gly316Glu Multiple submitters thyroid cancer, nonmedullary, 5
  • p.His84= Multiple submitters Factor VII-activating protease marburg I
  • p.Ser277Leu Multiple submitters Factor VII-activating protease marburg I

Likely benign 41

Uncertain significance 170