PREP — 76 ClinVar variants
All ClinVar germline PREP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
2 Pathogenic · 1 Benign · 1 Likely benign · 72 Uncertain significance
Full PREP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PREP p.Ala110Ser Uncertain significance Single submitter
- PREP p.Ala145Thr Uncertain significance Single submitter
- PREP p.Ala274Val Uncertain significance Single submitter
- PREP p.Ala370Thr Uncertain significance Single submitter
- PREP p.Ala678Val Uncertain significance Single submitter
- PREP p.Arg306Cys Uncertain significance Single submitter
- PREP p.Arg306His Uncertain significance Single submitter
- PREP p.Arg306Leu Uncertain significance Single submitter
- PREP p.Arg345Lys Uncertain significance Single submitter
- PREP p.Arg643His Uncertain significance Single submitter
- PREP p.Asp627Asn Uncertain significance Single submitter
- PREP p.Asp695Tyr Uncertain significance Single submitter
- PREP p.Asp72Gly Uncertain significance Single submitter
- PREP p.Cys175Ser Uncertain significance Single submitter
- PREP p.Gly380Ser Uncertain significance Single submitter
- PREP p.His79Tyr Uncertain significance Single submitter
- PREP p.Ile314Val Uncertain significance Single submitter
- PREP p.Ile709Val Uncertain significance Single submitter
- PREP p.Phe186Tyr Uncertain significance Single submitter
- PREP p.Phe302Cys Uncertain significance Single submitter
- PREP p.Phe398Val Uncertain significance Single submitter
- PREP p.Thr637Ser Uncertain significance Single submitter
- PREP p.Tyr246His Uncertain significance Single submitter
- PREP p.Tyr471Cys Uncertain significance Single submitter
- PREP p.Tyr484Cys Uncertain significance Single submitter
- PREP p.Val293Ala Uncertain significance Single submitter
Predictors split 46
The independent predictors disagree with each other — read with care.
- PREP p.Arg252Met Uncertain significance Single submitter
- PREP p.Arg312Cys Uncertain significance Single submitter
- PREP p.Arg312Gly Uncertain significance Single submitter
- PREP p.Arg312His Uncertain significance Single submitter
- PREP p.Arg423Gln Uncertain significance Single submitter
- PREP p.Arg662Cys Uncertain significance Single submitter
- PREP p.Arg702Trp Uncertain significance Single submitter
- PREP p.Arg85Trp Uncertain significance Single submitter
- PREP p.Asn295Ser Uncertain significance Single submitter
- PREP p.Asn310Ser Uncertain significance Single submitter
- PREP p.Asp284Glu Uncertain significance Single submitter
- PREP p.Asp35Asn Uncertain significance Single submitter
- PREP p.Asp434Tyr Uncertain significance Single submitter
- PREP p.Cys343Ser Uncertain significance Single submitter
- PREP p.Gln193His Uncertain significance Single submitter
- PREP p.Glu323Gly Uncertain significance Single submitter
- PREP p.Glu415Gly Uncertain significance Single submitter
- PREP p.His333Arg Uncertain significance Single submitter
- PREP p.Ile460Val Uncertain significance Single submitter
- PREP p.Ile504Val Uncertain significance Single submitter
- PREP p.Ile538Thr Uncertain significance Single submitter
- PREP p.Leu351Ile Uncertain significance Single submitter
- PREP p.Leu548Val Uncertain significance Single submitter
- PREP p.Leu647Phe Uncertain significance Single submitter
- PREP p.Leu671Ile Uncertain significance Single submitter
- PREP p.Lys373Asn Uncertain significance Single submitter
- PREP p.Lys677Arg Uncertain significance Single submitter
- PREP p.Met452Val Uncertain significance Single submitter
- PREP p.Pro229Thr Uncertain significance Single submitter
- PREP p.Pro376Arg Uncertain significance Single submitter
- PREP p.Pro376Leu Uncertain significance Single submitter
- PREP p.Ser346Tyr Uncertain significance Single submitter
- PREP p.Ser465Cys Uncertain significance Single submitter
- PREP p.Ser663Asn Uncertain significance Single submitter
- PREP p.Thr217Ile Uncertain significance Single submitter
- PREP p.Thr298Met Uncertain significance Single submitter
- PREP p.Thr374Ser Uncertain significance Single submitter
- PREP p.Tyr101His Uncertain significance Single submitter
- PREP p.Tyr138Cys Uncertain significance Single submitter
- PREP p.Tyr408Cys Uncertain significance Single submitter
- PREP p.Tyr599Phe Uncertain significance Single submitter
- PREP p.Tyr90Cys Uncertain significance Single submitter
- PREP p.Val280Ile Uncertain significance Single submitter
- PREP p.Val293Leu Uncertain significance Single submitter
- PREP p.Val313Met Uncertain significance Single submitter
- PREP p.Val427Ile Uncertain significance Single submitter
All PREP variants
Pathogenic 2
- c.1839-2A>G Single submitter
- p.Asn525fs Single submitter
Benign 1
- p.His680= Single submitter
Likely benign 1
- p.Ala274Thr Single submitter
Uncertain significance 72
- p.Ala110Ser Single submitter ⚠
- p.Ala145Thr Single submitter ⚠
- p.Ala274Val Single submitter ⚠
- p.Ala370Thr Single submitter ⚠
- p.Ala678Val Single submitter ⚠
- p.Arg252Met Single submitter ⚠
- p.Arg306Cys Single submitter ⚠
- p.Arg306His Single submitter ⚠
- p.Arg306Leu Single submitter ⚠
- p.Arg312Cys Single submitter ⚠
- p.Arg312Gly Single submitter ⚠
- p.Arg312His Single submitter ⚠
- p.Arg345Lys Single submitter ⚠
- p.Arg423Gln Single submitter ⚠
- p.Arg643His Single submitter ⚠
- p.Arg662Cys Single submitter ⚠
- p.Arg702Trp Single submitter ⚠
- p.Arg85Trp Single submitter ⚠
- p.Asn295Ser Single submitter ⚠
- p.Asn310Ser Single submitter ⚠
- p.Asp284Glu Single submitter ⚠
- p.Asp35Asn Single submitter ⚠
- p.Asp434Tyr Single submitter ⚠
- p.Asp627Asn Single submitter ⚠
- p.Asp695Tyr Single submitter ⚠
- p.Asp72Gly Single submitter ⚠
- p.Cys175Ser Single submitter ⚠
- p.Cys343Ser Single submitter ⚠
- p.Gln193His Single submitter ⚠
- p.Glu323Gly Single submitter ⚠
- p.Glu415Gly Single submitter ⚠
- p.Gly380Ser Single submitter ⚠
- p.His333Arg Single submitter ⚠
- p.His79Tyr Single submitter ⚠
- p.Ile314Val Single submitter ⚠
- p.Ile460Val Single submitter ⚠
- p.Ile504Val Single submitter ⚠
- p.Ile538Thr Single submitter ⚠
- p.Ile709Val Single submitter ⚠
- p.Leu351Ile Single submitter ⚠
- p.Leu548Val Single submitter ⚠
- p.Leu647Phe Single submitter ⚠
- p.Leu671Ile Single submitter ⚠
- p.Lys373Asn Single submitter ⚠
- p.Lys677Arg Single submitter ⚠
- p.Met452Val Single submitter ⚠
- p.Phe186Tyr Single submitter ⚠
- p.Phe302Cys Single submitter ⚠
- p.Phe398Val Single submitter ⚠
- p.Pro229Thr Single submitter ⚠
- p.Pro376Arg Single submitter ⚠
- p.Pro376Leu Single submitter ⚠
- p.Ser346Tyr Single submitter ⚠
- p.Ser465Cys Single submitter ⚠
- p.Ser663Asn Single submitter ⚠
- p.Thr217Ile Single submitter ⚠
- p.Thr298Met Single submitter ⚠
- p.Thr374Ser Single submitter ⚠
- p.Thr637Ser Single submitter ⚠
- p.Tyr101His Single submitter ⚠
- p.Tyr138Cys Single submitter ⚠
- p.Tyr246His Single submitter ⚠
- p.Tyr408Cys Single submitter ⚠
- p.Tyr471Cys Single submitter ⚠
- p.Tyr484Cys Single submitter ⚠
- p.Tyr599Phe Single submitter ⚠
- p.Tyr90Cys Single submitter ⚠
- p.Val280Ile Single submitter ⚠
- p.Val293Ala Single submitter ⚠
- p.Val293Leu Single submitter ⚠
- p.Val313Met Single submitter ⚠
- p.Val427Ile Single submitter ⚠