HSPH1 — 95 ClinVar variants

All ClinVar germline HSPH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →

3 Benign · 1 Benign/Likely benign · 8 Likely benign · 83 Uncertain significance

Full HSPH1 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 59

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 13

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

All HSPH1 variants

Benign 3

p.Glu575= Multiple submitters
p.Leu435Val Multiple submitters
c.1138-4del Single submitter

Benign/Likely benign 1

p.Arg781His Multiple submitters

Likely benign 8

p.Asp32= Multiple submitters
p.Gly299= Single submitter
p.Ile362Val Single submitter
p.Ile598Val Single submitter
p.Ile821Thr Single submitter
p.Leu94= Single submitter
p.Met508Val Single submitter
p.Thr503Ala Single submitter

Uncertain significance 83

p.Ala344Ser Multiple submitters ⚠
p.Ala18Gly Single submitter ⚠
p.Ala18Ser Single submitter ⚠
p.Ala18Val Single submitter ⚠
p.Ala27Val Single submitter ⚠
p.Arg196Trp Single submitter
p.Arg437Met Single submitter ⚠
p.Arg461His Single submitter ⚠
p.Arg483Gln Single submitter
p.Arg520Ile Single submitter ⚠
p.Asn235Thr Single submitter ⚠
p.Asn407Ser Single submitter ⚠
p.Asn485Ser Single submitter ⚠
p.Asn565Asp Single submitter ⚠
p.Asn756Asp Single submitter ⚠
p.Asp173Asn Single submitter ⚠
p.Asp187Tyr Single submitter ⚠
p.Asp202Asn Single submitter ⚠
p.Asp237Asn Single submitter
p.Asp412His Single submitter ⚠
p.Asp526Gly Single submitter ⚠
p.Gln532His Single submitter ⚠
p.Gln550Glu Single submitter ⚠
p.Gln553His Single submitter ⚠
p.Glu456Lys Single submitter ⚠
p.Glu681Lys Single submitter
p.Glu85Gly Single submitter ⚠
p.Gly107Ser Single submitter ⚠
p.Gly299Arg Single submitter ⚠
p.His110Tyr Single submitter ⚠
p.His329Leu Single submitter ⚠
p.His408Arg Single submitter ⚠
p.His408Asn Single submitter ⚠
p.Ile197Met Single submitter ⚠
p.Ile288Val Single submitter ⚠
p.Ile347Met Single submitter ⚠
p.Ile382Val Single submitter ⚠
p.Ile743Thr Single submitter
p.Leu168Ter Single submitter
p.Leu223Met Single submitter ⚠
p.Leu231Phe Single submitter ⚠
p.Leu263Phe Single submitter ⚠
p.Leu284Arg Single submitter ⚠
p.Leu695Ile Single submitter ⚠
p.Lys126Glu Single submitter ⚠
p.Lys388Arg Single submitter ⚠
p.Lys475Glu Single submitter ⚠
p.Lys714Arg Single submitter ⚠
p.Lys739Glu Single submitter ⚠
p.Lys772Arg Single submitter ⚠
p.Met301Ile Single submitter
p.Met301Val Single submitter ⚠
p.Met759Ile Single submitter ⚠
p.Phe230Leu Single submitter ⚠
p.Phe248Leu Single submitter ⚠
p.Phe30Leu Single submitter ⚠
p.Phe834Ser Single submitter ⚠
p.Pro320Ser Single submitter ⚠
p.Pro542Arg Single submitter ⚠
p.Pro597Leu Single submitter
p.Pro803Leu Single submitter ⚠
p.Pro819Leu Single submitter ⚠
p.Pro838Arg Single submitter ⚠
p.Ser190Ile Single submitter ⚠
p.Ser336Asn Single submitter ⚠
p.Ser468Ala Single submitter ⚠
p.Ser536Gly Single submitter ⚠
p.Thr35Ser Single submitter ⚠
p.Thr63Met Single submitter
p.Thr670Ala Single submitter ⚠
p.Thr670Ile Single submitter ⚠
p.Thr795Pro Single submitter ⚠
p.Trp675fs Single submitter
p.Tyr252His Single submitter ⚠
p.Tyr688Cys Single submitter ⚠
p.Tyr740fs Single submitter
p.Tyr846Asp Single submitter ⚠
p.Val156Met Single submitter ⚠
p.Val199Ile Single submitter ⚠
p.Val416Ile Single submitter ⚠
p.Val501Leu Single submitter ⚠
p.Val50Leu Single submitter ⚠
p.Val799Ile Single submitter ⚠