TFPI — 19 ClinVar variants
All ClinVar germline TFPI variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
3 Benign · 16 Uncertain significance
Full TFPI gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TFPI p.Arg243His Uncertain significance Single submitter
- TFPI p.Arg274Lys Uncertain significance Single submitter
- TFPI p.Arg285Thr Uncertain significance Single submitter
- TFPI p.Asn108Lys Uncertain significance Single submitter
- TFPI p.Cys263Tyr Uncertain significance Single submitter
- TFPI p.Glu262Asp Uncertain significance Single submitter
- TFPI p.Ile239Thr Uncertain significance Single submitter
- TFPI p.Ile272Val Uncertain significance Single submitter
- TFPI p.Ile294Val Uncertain significance Single submitter
- TFPI p.Ile38Val Uncertain significance Single submitter
- TFPI p.Leu47Pro Uncertain significance Single submitter
- TFPI p.Lys289Gln Uncertain significance Single submitter
- TFPI p.Val194Met Uncertain significance Single submitter
- TFPI p.Val238Phe Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All TFPI variants
Benign 3
- c.319+10T>C Multiple submitters
- p.Thr147Lys Multiple submitters
- c.628+8T>C Single submitter
Uncertain significance 16
- p.Arg243His Single submitter ⚠
- p.Arg274Lys Single submitter ⚠
- p.Arg285Thr Single submitter ⚠
- p.Arg287Ser Single submitter ⚠
- p.Asn108Lys Single submitter ⚠
- p.Cys263Tyr Single submitter ⚠
- p.Glu262Asp Single submitter ⚠
- p.Gly213Ser Single submitter ⚠
- p.Ile239Thr Single submitter ⚠
- p.Ile272Val Single submitter ⚠
- p.Ile294Val Single submitter ⚠
- p.Ile38Val Single submitter ⚠
- p.Leu47Pro Single submitter ⚠
- p.Lys289Gln Single submitter ⚠
- p.Val194Met Single submitter ⚠
- p.Val238Phe Single submitter ⚠