HPN — 66 ClinVar variants

All ClinVar germline HPN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →

1 Conflicting · 2 Benign · 1 Likely benign · 62 Uncertain significance

Full HPN 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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

HPN p.Arg8Gln Conflicting Single submitter

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.

Predictors split 5

The independent predictors disagree with each other — read with care.

All HPN variants

Conflicting classifications of pathogenicity 1

p.Arg8Gln Single submitter ⚠

Benign 2

p.Leu96= Multiple submitters
p.Val238= Multiple submitters

Likely benign 1

p.Thr128Ala Single submitter

Uncertain significance 62

p.Ala236Ser Single submitter ⚠
p.Ala2Val Single submitter ⚠
p.Ala403Thr Single submitter ⚠
p.Ala410Gly Single submitter ⚠
p.Ala59Val Single submitter ⚠
p.Arg130Lys Single submitter ⚠
p.Arg130Ser Single submitter ⚠
p.Arg167Trp Single submitter ⚠
p.Arg173Gln Single submitter ⚠
p.Arg210Gln Single submitter ⚠
p.Arg214Ter Single submitter
p.Arg247Trp Single submitter ⚠
p.Arg313Gln Single submitter ⚠
p.Arg365Gln Single submitter ⚠
p.Arg365Pro Single submitter ⚠
p.Arg370Gln Single submitter
p.Arg8Trp Single submitter ⚠
p.Asn319Ser Single submitter ⚠
p.Asp287Tyr Single submitter ⚠
p.Cys12Arg Single submitter ⚠
p.Gln235Leu Single submitter ⚠
p.Glu133Asp Single submitter ⚠
p.Glu343Lys Single submitter ⚠
p.Glu409Lys Single submitter ⚠
p.Glu70Lys Single submitter ⚠
p.Gly113Asp Single submitter ⚠
p.Gly123Glu Single submitter ⚠
p.Gly220Ala Single submitter ⚠
p.Gly354Ser Single submitter ⚠
p.His101Tyr Single submitter ⚠
p.His127Gln Single submitter ⚠
p.His127Leu Single submitter ⚠
p.Ile346Thr Single submitter ⚠
p.Ile363Ser Single submitter
p.Ile363Val Single submitter ⚠
p.Leu88His Single submitter ⚠
p.Lys17Arg Single submitter ⚠
p.Lys17Asn Single submitter ⚠
p.Met93Thr Single submitter ⚠
p.Pro126Leu Single submitter ⚠
p.Pro175Leu Single submitter ⚠
p.Pro227Leu Single submitter ⚠
p.Pro367Leu Single submitter ⚠
p.Pro50Leu Single submitter ⚠
p.Ser179Arg Single submitter ⚠
p.Ser411Arg Single submitter ⚠
p.Thr108Lys Single submitter ⚠
p.Thr108Met Single submitter ⚠
p.Thr25Ile Single submitter ⚠
p.Thr366Met Single submitter ⚠
p.Thr415Ser Single submitter ⚠
p.Thr72Met Single submitter ⚠
p.Thr72Pro Single submitter ⚠
p.Trp174Cys Single submitter ⚠
p.Trp197Cys Single submitter ⚠
p.Tyr272Cys Single submitter ⚠
p.Tyr301His Single submitter ⚠
p.Val10Met Single submitter ⚠
p.Val178Asp Single submitter ⚠
p.Val18Ala Single submitter ⚠
p.Val222Ala Single submitter ⚠
p.Val222Met Single submitter ⚠