HPSE — 86 ClinVar variants
All ClinVar germline HPSE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →
5 Benign · 10 Likely benign · 71 Uncertain significance
Full HPSE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 70
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 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HPSE p.Ala285Thr Uncertain significance Single submitter
- HPSE p.Ala305Thr Uncertain significance Single submitter
- HPSE p.Arg303Trp Uncertain significance Single submitter
- HPSE p.Arg517Gln Uncertain significance Single submitter
- HPSE p.Arg517Trp Uncertain significance Single submitter
- HPSE p.Arg81His Uncertain significance Single submitter
- HPSE p.Asn203Lys Uncertain significance Single submitter
- HPSE p.Asn312Asp Uncertain significance Single submitter
- HPSE p.Asn312Ser Uncertain significance Single submitter
- HPSE p.Asp100Val Uncertain significance Single submitter
- HPSE p.Asp395Val Uncertain significance Single submitter
- HPSE p.Asp40Asn Uncertain significance Single submitter
- HPSE p.Gln34Pro Uncertain significance Single submitter
- HPSE p.Gln424Arg Uncertain significance Single submitter
- HPSE p.Gln46His Uncertain significance Single submitter
- HPSE p.Glu137Lys Uncertain significance Single submitter
- HPSE p.Glu138Gln Uncertain significance Single submitter
- HPSE p.Glu308Ala Uncertain significance Single submitter
- HPSE p.Gly351Arg Uncertain significance Single submitter
- HPSE p.Gly389Glu Uncertain significance Single submitter
- HPSE p.Gly448Arg Uncertain significance Single submitter
- HPSE p.Gly497Asp Uncertain significance Single submitter
- HPSE p.Ile185Thr Uncertain significance Single submitter
- HPSE p.Leu230Val Uncertain significance Single submitter
- HPSE p.Leu401Phe Uncertain significance Single submitter
- HPSE p.Leu466Ser Uncertain significance Single submitter
- HPSE p.Leu480Pro Uncertain significance Single submitter
- HPSE p.Leu483Trp Uncertain significance Single submitter
- HPSE p.Leu508Ser Uncertain significance Single submitter
- HPSE p.Leu522Arg Uncertain significance Single submitter
- HPSE p.Lys274Gln Uncertain significance Single submitter
- HPSE p.Lys538Glu Uncertain significance Single submitter
- HPSE p.Lys6Asn Uncertain significance Single submitter
- HPSE p.Met14Val Uncertain significance Single submitter
- HPSE p.Phe398Val Uncertain significance Single submitter
- HPSE p.Phe56Ser Uncertain significance Single submitter
- HPSE p.Pro12Leu Uncertain significance Single submitter
- HPSE p.Pro145Ser Uncertain significance Single submitter
- HPSE p.Pro20Arg Uncertain significance Single submitter
- HPSE p.Pro226Ser Uncertain significance Single submitter
- HPSE p.Pro23Ser Uncertain significance Single submitter
- HPSE p.Pro30Arg Uncertain significance Single submitter
- HPSE p.Ser228Arg Uncertain significance Single submitter
- HPSE p.Ser520Cys Uncertain significance Single submitter
- HPSE p.Thr111Ala Uncertain significance Single submitter
- HPSE p.Thr175Ala Uncertain significance Single submitter
- HPSE p.Thr358Pro Uncertain significance Single submitter
- HPSE p.Thr451Ser Uncertain significance Single submitter
- HPSE p.Thr499Pro Uncertain significance Single submitter
- HPSE p.Thr67Met Uncertain significance Single submitter
- HPSE p.Tyr156Cys Uncertain significance Single submitter
- HPSE p.Val289Leu Uncertain significance Single submitter
- HPSE p.Val329Leu Uncertain significance Single submitter
- HPSE p.Val423Ala Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- HPSE p.Ala177Gly Uncertain significance Single submitter
- HPSE p.Ala204Thr Uncertain significance Single submitter
- HPSE p.Ala84Thr Uncertain significance Single submitter
- HPSE p.Asp125Gly Uncertain significance Single submitter
- HPSE p.Gly349Arg Uncertain significance Single submitter
- HPSE p.Gly415Ser Uncertain significance Single submitter
- HPSE p.Leu16Met Uncertain significance Single submitter
- HPSE p.Met381Ile Uncertain significance Single submitter
- HPSE p.Phe398Leu Uncertain significance Single submitter
- HPSE p.Pro133Thr Uncertain significance Single submitter
- HPSE p.Pro482Ala Uncertain significance Single submitter
- HPSE p.Pro48Arg Uncertain significance Single submitter
- HPSE p.Pro48Thr Uncertain significance Single submitter
- HPSE p.Thr97Ile Uncertain significance Single submitter
- HPSE p.Tyr216Cys Uncertain significance Single submitter
- HPSE p.Tyr264Cys Uncertain significance Single submitter
All HPSE variants
Benign 5
- c.673+8C>A Multiple submitters
- c.374-735C>T Single submitter
- p.Asn459= No assertion criteria HPSE-related disorder
- p.Lys161Gln No assertion criteria HPSE-related disorder
- p.Lys307Arg No assertion criteria HPSE-related disorder
Likely benign 10
- p.Gly370Asp Multiple submitters
- p.Arg31Gly Single submitter
- p.Arg465Gln Single submitter
- p.Asp357Asn Single submitter
- p.Phe160= Single submitter
- p.Pro11Leu Single submitter
- p.Ala352= No assertion criteria HPSE-related disorder
- p.Asp476Glu No assertion criteria HPSE-related disorder
- p.His436= No assertion criteria HPSE-related disorder
- p.Phe236Cys No assertion criteria HPSE-related disorder
Uncertain significance 71
- p.Ala177Gly Single submitter ⚠
- p.Ala204Thr Single submitter ⚠
- p.Ala285Thr Single submitter ⚠
- p.Ala305Thr Single submitter ⚠
- p.Ala84Thr Single submitter ⚠
- p.Arg303Trp Single submitter ⚠
- p.Arg517Gln Single submitter ⚠
- p.Arg517Trp Single submitter ⚠
- p.Arg81His Single submitter ⚠
- p.Asn203Lys Single submitter ⚠
- p.Asn312Asp Single submitter ⚠
- p.Asn312Ser Single submitter ⚠
- p.Asp100Val Single submitter ⚠
- p.Asp125Gly Single submitter ⚠
- p.Asp395Val Single submitter ⚠
- p.Asp40Asn Single submitter ⚠
- p.Gln34Pro Single submitter ⚠
- p.Gln424Arg Single submitter ⚠
- p.Gln46His Single submitter ⚠
- p.Glu137Lys Single submitter ⚠
- p.Glu138Gln Single submitter ⚠
- p.Glu308Ala Single submitter ⚠
- p.Gly349Arg Single submitter ⚠
- p.Gly351Arg Single submitter ⚠
- p.Gly389Glu Single submitter ⚠
- p.Gly415Ser Single submitter ⚠
- p.Gly448Arg Single submitter ⚠
- p.Gly497Asp Single submitter ⚠
- p.Ile185Thr Single submitter ⚠
- p.Leu16Met Single submitter ⚠
- p.Leu230Val Single submitter ⚠
- p.Leu401Phe Single submitter ⚠
- p.Leu466Ser Single submitter ⚠
- p.Leu480Pro Single submitter ⚠
- p.Leu483Trp Single submitter ⚠
- p.Leu508Ser Single submitter ⚠
- p.Leu522Arg Single submitter ⚠
- p.Leu522Pro Single submitter
- p.Lys274Gln Single submitter ⚠
- p.Lys538Glu Single submitter ⚠
- p.Lys6Asn Single submitter ⚠
- p.Met14Val Single submitter ⚠
- p.Met381Ile Single submitter ⚠
- p.Phe398Leu Single submitter ⚠
- p.Phe398Val Single submitter ⚠
- p.Phe56Ser Single submitter ⚠
- p.Pro12Leu Single submitter ⚠
- p.Pro133Thr Single submitter ⚠
- p.Pro145Ser Single submitter ⚠
- p.Pro20Arg Single submitter ⚠
- p.Pro226Ser Single submitter ⚠
- p.Pro23Ser Single submitter ⚠
- p.Pro30Arg Single submitter ⚠
- p.Pro482Ala Single submitter ⚠
- p.Pro48Arg Single submitter ⚠
- p.Pro48Thr Single submitter ⚠
- p.Ser228Arg Single submitter ⚠
- p.Ser520Cys Single submitter ⚠
- p.Thr111Ala Single submitter ⚠
- p.Thr175Ala Single submitter ⚠
- p.Thr358Pro Single submitter ⚠
- p.Thr451Ser Single submitter ⚠
- p.Thr499Pro Single submitter ⚠
- p.Thr67Met Single submitter ⚠
- p.Thr97Ile Single submitter ⚠
- p.Tyr156Cys Single submitter ⚠
- p.Tyr216Cys Single submitter ⚠
- p.Tyr264Cys Single submitter ⚠
- p.Val289Leu Single submitter ⚠
- p.Val329Leu Single submitter ⚠
- p.Val423Ala Single submitter ⚠