PROX1 — 70 ClinVar variants
All ClinVar germline PROX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
1 Benign · 7 Likely benign · 62 Uncertain significance
Full PROX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PROX1 p.Ala288Val Uncertain significance Single submitter
- PROX1 p.Ala391Thr Uncertain significance Single submitter
- PROX1 p.Ala698Ser Uncertain significance Single submitter
- PROX1 p.Ala77Ser Uncertain significance Single submitter
- PROX1 p.Arg166Ser Uncertain significance Single submitter
- PROX1 p.Arg228Gly Uncertain significance Single submitter
- PROX1 p.Arg233Gln Uncertain significance Single submitter
- PROX1 p.Arg280His Uncertain significance Single submitter
- PROX1 p.Asn131Ser Uncertain significance Single submitter
- PROX1 p.Asn187Ser Uncertain significance Single submitter
- PROX1 p.Asn357Ser Uncertain significance Single submitter
- PROX1 p.Asn399Lys Uncertain significance Single submitter
- PROX1 p.Asp303Asn Uncertain significance Single submitter
- PROX1 p.Asp414Asn Uncertain significance Single submitter
- PROX1 p.Asp422Asn Uncertain significance Single submitter
- PROX1 p.Asp516Glu Uncertain significance Single submitter
- PROX1 p.Cys140Arg Uncertain significance Single submitter
- PROX1 p.Gln231Arg Uncertain significance Single submitter
- PROX1 p.Gln306Arg Uncertain significance Single submitter
- PROX1 p.Gln450Lys Uncertain significance Single submitter
- PROX1 p.Gln60Glu Uncertain significance Single submitter
- PROX1 p.Glu301Gly Uncertain significance Single submitter
- PROX1 p.Glu301Lys Uncertain significance Single submitter
- PROX1 p.Glu319Val Uncertain significance Single submitter
- PROX1 p.Glu679Gln Uncertain significance Single submitter
- PROX1 p.Gly186Ser Uncertain significance Single submitter
- PROX1 p.Gly49Ser Uncertain significance Single submitter
- PROX1 p.Gly502Ala Uncertain significance Single submitter
- PROX1 p.His465Gln Uncertain significance Single submitter
- PROX1 p.His535Gln Uncertain significance Single submitter
- PROX1 p.His536Gln Uncertain significance Single submitter
- PROX1 p.His61Arg Uncertain significance Single submitter
- PROX1 p.Ile128Val Uncertain significance Single submitter
- PROX1 p.Leu550Phe Uncertain significance Single submitter
- PROX1 p.Lys346Arg Uncertain significance Single submitter
- PROX1 p.Met320Thr Uncertain significance Single submitter
- PROX1 p.Pro138Gln Uncertain significance Single submitter
- PROX1 p.Pro195Leu Uncertain significance Single submitter
- PROX1 p.Pro338Leu Uncertain significance Single submitter
- PROX1 p.Pro420Ser Uncertain significance Single submitter
- PROX1 p.Pro86Ser Uncertain significance Single submitter
- PROX1 p.Ser278Asn Uncertain significance Single submitter
- PROX1 p.Ser6Asn Uncertain significance Single submitter
- PROX1 p.Ser727Thr Uncertain significance Single submitter
- PROX1 p.Thr107Met Uncertain significance Single submitter
- PROX1 p.Thr40Arg Uncertain significance Single submitter
- PROX1 p.Thr479Ile Uncertain significance Single submitter
- PROX1 p.Val225Leu Uncertain significance Single submitter
- PROX1 p.Val382Ile Uncertain significance Single submitter
- PROX1 p.Val59Ala Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- PROX1 p.Arg236Cys Uncertain significance Single submitter
- PROX1 p.Arg71Cys Uncertain significance Single submitter
- PROX1 p.Asn68Lys Uncertain significance Single submitter
- PROX1 p.Asp245Asn Uncertain significance Single submitter
- PROX1 p.Asp82Asn Uncertain significance Single submitter
- PROX1 p.Leu243Met Uncertain significance Single submitter
- PROX1 p.Met360Ile Uncertain significance Single submitter
- PROX1 p.Phe493Leu Uncertain significance Single submitter
- PROX1 p.Thr366Asn Uncertain significance Single submitter
- PROX1 p.Val684Ile Uncertain significance Single submitter
All PROX1 variants
Benign 1
- p.Leu314= No assertion criteria PROX1-related disorder
Likely benign 7
- p.His61= Multiple submitters
- p.Gln435= Single submitter
- p.Phe33= Single submitter
- c.*4T>A No assertion criteria PROX1-related disorder
- p.Cys300= No assertion criteria PROX1-related disorder
- p.His336Pro No assertion criteria PROX1-related disorder
- p.Pro304= No assertion criteria PROX1-related disorder
Uncertain significance 62
- p.Ala288Val Single submitter ⚠
- p.Ala391Thr Single submitter ⚠
- p.Ala698Ser Single submitter ⚠
- p.Ala77Ser Single submitter ⚠
- p.Arg166Ser Single submitter ⚠
- p.Arg228Gly Single submitter ⚠
- p.Arg233Gln Single submitter ⚠
- p.Arg236Cys Single submitter ⚠
- p.Arg280His Single submitter ⚠
- p.Arg71Cys Single submitter ⚠
- p.Asn131Ser Single submitter ⚠
- p.Asn187Ser Single submitter ⚠
- p.Asn357Ser Single submitter ⚠
- p.Asn399Lys Single submitter ⚠
- p.Asn68Lys Single submitter ⚠
- p.Asp245Asn Single submitter ⚠
- p.Asp303Asn Single submitter ⚠
- p.Asp414Asn Single submitter ⚠
- p.Asp422Asn Single submitter ⚠
- p.Asp516Glu Single submitter ⚠
- p.Asp82Asn Single submitter ⚠
- p.Cys140Arg Single submitter ⚠
- p.Gln231Arg Single submitter ⚠
- p.Gln306Arg Single submitter ⚠
- p.Gln450Lys Single submitter ⚠
- p.Gln60Glu Single submitter ⚠
- p.Glu301Gly Single submitter ⚠
- p.Glu301Lys Single submitter ⚠
- p.Glu319Val Single submitter ⚠
- p.Glu679Gln Single submitter ⚠
- p.Gly186Ser Single submitter ⚠
- p.Gly49Ser Single submitter ⚠
- p.Gly502Ala Single submitter ⚠
- p.His465Gln Single submitter ⚠
- p.His535Gln Single submitter ⚠
- p.His536Gln Single submitter ⚠
- p.His61Arg Single submitter ⚠
- p.Ile128Val Single submitter ⚠
- p.Leu243Met Single submitter ⚠
- p.Leu550Phe Single submitter ⚠
- p.Lys346Arg Single submitter ⚠
- p.Met320Thr Single submitter ⚠
- p.Met360Ile Single submitter ⚠
- p.Phe493Leu Single submitter ⚠
- p.Pro138Gln Single submitter ⚠
- p.Pro195Leu Single submitter ⚠
- p.Pro338Leu Single submitter ⚠
- p.Pro420Ser Single submitter ⚠
- p.Pro86Ser Single submitter ⚠
- p.Ser278Asn Single submitter ⚠
- p.Ser553Leu Single submitter
- p.Ser6Asn Single submitter ⚠
- p.Ser727Thr Single submitter ⚠
- p.Ser79Leu Single submitter
- p.Thr107Met Single submitter ⚠
- p.Thr366Asn Single submitter ⚠
- p.Thr40Arg Single submitter ⚠
- p.Thr479Ile Single submitter ⚠
- p.Val225Leu Single submitter ⚠
- p.Val382Ile Single submitter ⚠
- p.Val59Ala Single submitter ⚠
- p.Val684Ile Single submitter ⚠