HASPIN — 140 ClinVar variants

All ClinVar germline HASPIN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →

11 Likely benign · 129 Uncertain significance

Full HASPIN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 128

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 116

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

Predictors split 12

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

All HASPIN variants

Likely benign 11

p.Ala261Thr Single submitter
p.Arg486Cys Single submitter
p.Arg486His Single submitter
p.Arg78Gln Single submitter
p.Gln775Arg Single submitter
p.Gly363Arg Single submitter
p.Gly48Ser Single submitter
p.Leu162Val Single submitter
p.Met781Val Single submitter
p.Pro480Ser Single submitter
p.Tyr16= Single submitter

Uncertain significance 129

p.Ala18Asp Single submitter ⚠
p.Ala19Val Single submitter ⚠
p.Ala224Gly Single submitter ⚠
p.Ala623Thr Single submitter ⚠
p.Ala625Thr Single submitter ⚠
p.Arg100Pro Single submitter ⚠
p.Arg106Cys Single submitter ⚠
p.Arg114Ser Single submitter ⚠
p.Arg115Leu Single submitter ⚠
p.Arg119Gln Single submitter ⚠
p.Arg134Pro Single submitter ⚠
p.Arg141Gly Single submitter ⚠
p.Arg14Ser Single submitter ⚠
p.Arg214Gly Single submitter ⚠
p.Arg232Thr Single submitter ⚠
p.Arg23Thr Single submitter ⚠
p.Arg26Trp Single submitter ⚠
p.Arg273Met Single submitter ⚠
p.Arg310Trp Single submitter ⚠
p.Arg326Ser Single submitter ⚠
p.Arg330Thr Single submitter ⚠
p.Arg40Trp Single submitter ⚠
p.Arg423Gln Single submitter ⚠
p.Arg423Trp Single submitter ⚠
p.Arg486Gly Single submitter ⚠
p.Arg552Cys Single submitter ⚠
p.Arg552His Single submitter ⚠
p.Arg616Gln Single submitter ⚠
p.Arg644Cys Single submitter ⚠
p.Arg82Leu Single submitter ⚠
p.Asn670Lys Single submitter ⚠
p.Asp149His Single submitter ⚠
p.Asp256Asn Single submitter ⚠
p.Asp578Glu Single submitter ⚠
p.Asp589His Single submitter ⚠
p.Asp597Asn Single submitter ⚠
p.Asp64Glu Single submitter ⚠
p.Asp65His Single submitter ⚠
p.Asp67Glu Single submitter ⚠
p.Asp707Asn Single submitter ⚠
p.Asp90Asn Single submitter ⚠
p.Cys194Tyr Single submitter ⚠
p.Gln124Arg Single submitter ⚠
p.Gln221His Single submitter ⚠
p.Glu315Ala Single submitter ⚠
p.Glu315Val Single submitter ⚠
p.Glu488Lys Single submitter ⚠
p.Gly144Arg Single submitter ⚠
p.Gly159Ser Single submitter ⚠
p.Gly278Glu Single submitter ⚠
p.Gly283Asp Single submitter ⚠
p.Gly285Arg Single submitter ⚠
p.Gly290Arg Single submitter ⚠
p.Gly290Asp Single submitter ⚠
p.Gly304Arg Single submitter ⚠
p.Gly431Ala Single submitter ⚠
p.Gly55Arg Single submitter ⚠
p.Gly715Ser Single submitter ⚠
p.Gly85Ser Single submitter ⚠
p.His313Arg Single submitter ⚠
p.His313Gln Single submitter ⚠
p.His630Tyr Single submitter ⚠
p.His737Tyr Single submitter ⚠
p.Ile405Thr Single submitter ⚠
p.Ile510Met Single submitter ⚠
p.Ile510Thr Single submitter ⚠
p.Ile601Val Single submitter ⚠
p.Ile685Val Single submitter ⚠
p.Leu245Pro Single submitter ⚠
p.Leu245Val Single submitter ⚠
p.Leu350Pro Single submitter ⚠
p.Leu612Val Single submitter
p.Leu657Val Single submitter ⚠
p.Leu662Phe Single submitter ⚠
p.Leu710Val Single submitter ⚠
p.Leu743Ile Single submitter ⚠
p.Leu782Val Single submitter ⚠
p.Lys483Ile Single submitter ⚠
p.Lys659Asn Single submitter ⚠
p.Lys663Arg Single submitter ⚠
p.Lys727Thr Single submitter ⚠
p.Lys99Asn Single submitter ⚠
p.Met249Lys Single submitter ⚠
p.Met706Val Single submitter ⚠
p.Phe169Leu Single submitter ⚠
p.Phe43Val Single submitter ⚠
p.Pro148Arg Single submitter ⚠
p.Pro177Leu Single submitter ⚠
p.Pro180Arg Single submitter ⚠
p.Pro180Thr Single submitter ⚠
p.Pro218Leu Single submitter ⚠
p.Pro57Leu Single submitter ⚠
p.Pro738Leu Single submitter ⚠
p.Pro75Ser Single submitter ⚠
p.Pro8Leu Single submitter ⚠
p.Pro8Ser Single submitter ⚠
p.Ser140Gly Single submitter ⚠
p.Ser143Phe Single submitter ⚠
p.Ser171Cys Single submitter ⚠
p.Ser174Leu Single submitter ⚠
p.Ser192Cys Single submitter ⚠
p.Ser192Phe Single submitter ⚠
p.Ser349Phe Single submitter ⚠
p.Ser366Leu Single submitter ⚠
p.Ser418Pro Single submitter ⚠
p.Ser430Thr Single submitter ⚠
p.Ser439Thr Single submitter ⚠
p.Ser453Pro Single submitter ⚠
p.Ser49Asn Single submitter ⚠
p.Ser561Leu Single submitter ⚠
p.Ser60Tyr Single submitter ⚠
p.Ser635Phe Single submitter ⚠
p.Ser786Pro Single submitter ⚠
p.Ser795Asn Single submitter ⚠
p.Ser795Gly Single submitter ⚠
p.Ser93Arg Single submitter ⚠
p.Thr191Ile Single submitter ⚠
p.Thr231Ser Single submitter ⚠
p.Thr382Asn Single submitter ⚠
p.Thr506Ser Single submitter ⚠
p.Thr760Ile Single submitter ⚠
p.Thr764Ser Single submitter ⚠
p.Thr95Ala Single submitter ⚠
p.Thr97Asn Single submitter ⚠
p.Tyr580His Single submitter ⚠
p.Val196Phe Single submitter ⚠
p.Val276Leu Single submitter ⚠
p.Val378Ile Single submitter ⚠
p.Val655Met Single submitter ⚠