HOOK2 — 133 ClinVar variants

All ClinVar germline HOOK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →

1 Conflicting · 2 Benign · 5 Likely benign · 125 Uncertain significance

Full HOOK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 120

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.

HOOK2 p.His488Gln Conflicting Single submitter
scoliosis, isolated, susceptibility to, 1

Predictors lean, ClinVar uncertain 89

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

Predictors split 30

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

All HOOK2 variants

Conflicting classifications of pathogenicity 1

p.His488Gln Single submitter scoliosis, isolated, susceptibility to, 1 ⚠

Benign 2

c.519+7G>T Multiple submitters
p.Val445Leu Multiple submitters

Likely benign 5

p.Glu657Lys Multiple submitters ⚠
p.Arg224Gln Single submitter
p.Arg301= Single submitter
p.Arg77Gln Single submitter
p.Asp491Glu Single submitter

Uncertain significance 125

c.1599+1G>A Single submitter
p.Ala149Asp Single submitter ⚠
p.Ala212Val Single submitter ⚠
p.Ala235Ser Single submitter ⚠
p.Ala36Thr Single submitter ⚠
p.Ala424Thr Single submitter ⚠
p.Ala495Thr Single submitter ⚠
p.Ala515Ser Single submitter ⚠
p.Ala576Gly Single submitter ⚠
p.Ala622Val Single submitter ⚠
p.Ala692Ser Single submitter ⚠
p.Arg175His Single submitter ⚠
p.Arg193His Single submitter ⚠
p.Arg219Gln Single submitter ⚠
p.Arg221Trp Single submitter ⚠
p.Arg224Pro Single submitter ⚠
p.Arg263His Single submitter ⚠
p.Arg265Cys Single submitter ⚠
p.Arg279Gln Single submitter ⚠
p.Arg328Gln Single submitter ⚠
p.Arg329Leu Single submitter ⚠
p.Arg337Pro Single submitter ⚠
p.Arg344Gly Single submitter ⚠
p.Arg344Leu Single submitter ⚠
p.Arg353Cys Single submitter ⚠
p.Arg376Gln Single submitter ⚠
p.Arg391His Single submitter ⚠
p.Arg406Trp Single submitter ⚠
p.Arg415Trp Single submitter ⚠
p.Arg422Cys Single submitter ⚠
p.Arg429Gln Single submitter ⚠
p.Arg494Ser Single submitter ⚠
p.Arg561Trp Single submitter ⚠
p.Arg577Trp Single submitter ⚠
p.Arg602Cys Single submitter ⚠
p.Arg636Gln Single submitter ⚠
p.Arg638Gln Single submitter ⚠
p.Arg641Cys Single submitter ⚠
p.Arg641His Single submitter ⚠
p.Arg653Gln Single submitter ⚠
p.Arg656Gln Single submitter ⚠
p.Arg656Trp Single submitter ⚠
p.Arg677Gln Single submitter ⚠
p.Arg682Gln Single submitter ⚠
p.Arg682Trp Single submitter ⚠
p.Arg695Gln Single submitter ⚠
p.Arg695Trp Single submitter ⚠
p.Arg701His Single submitter ⚠
p.Arg701Pro Single submitter
p.Arg707Cys Single submitter ⚠
p.Arg707His Single submitter ⚠
p.Arg714Cys Single submitter ⚠
p.Arg714His Single submitter ⚠
p.Arg77Trp Single submitter ⚠
p.Asn50Ser Single submitter ⚠
p.Asn64Ser Single submitter ⚠
p.Asn669Asp Single submitter ⚠
p.Asp157Gly Single submitter ⚠
p.Asp196His Single submitter ⚠
p.Asp298His Single submitter ⚠
p.Asp45Asn Single submitter
p.Asp519Gly Single submitter ⚠
p.Asp533Tyr Single submitter ⚠
p.Asp717Gly Single submitter ⚠
p.Cys25Trp Single submitter ⚠
p.Gln17His Single submitter ⚠
p.Gln291Pro Single submitter ⚠
p.Gln309His Single submitter ⚠
p.Gln425Arg Single submitter ⚠
p.Gln527His Single submitter ⚠
p.Gln688Pro Single submitter ⚠
p.Glu126Lys Single submitter ⚠
p.Glu185Gly Single submitter ⚠
p.Glu189Lys Single submitter ⚠
p.Glu220Lys Single submitter ⚠
p.Glu246Gly Single submitter ⚠
p.Glu262Val Single submitter ⚠
p.Glu289Gly Single submitter
p.Glu323Ala Single submitter ⚠
p.Glu343Lys Single submitter ⚠
p.Glu384Asp Single submitter ⚠
p.Glu384Gly Single submitter ⚠
p.Glu484Lys Single submitter ⚠
p.Glu545Lys Single submitter ⚠
p.Gly10Val Single submitter ⚠
p.Gly112Val Single submitter
p.Gly308Arg Single submitter ⚠
p.Gly340Arg Single submitter ⚠
p.Gly430Trp Single submitter ⚠
p.Gly62Ser Single submitter ⚠
p.Gly671Asp Single submitter ⚠
p.His341Arg Single submitter ⚠
p.His503Asn Single submitter ⚠
p.His503Tyr Single submitter ⚠
p.His686Tyr Single submitter ⚠
p.Ile564Ser Single submitter ⚠
p.Ile579Leu Single submitter ⚠
p.Ile57Phe Single submitter ⚠
p.Leu13Ile Single submitter ⚠
p.Leu180Arg Single submitter
p.Leu31Val Single submitter ⚠
p.Leu387Arg Single submitter ⚠
p.Leu414Phe Single submitter
p.Leu705Phe Single submitter ⚠
p.Lys402Asn Single submitter ⚠
p.Lys68Gln Single submitter ⚠
p.Met381Ile Single submitter ⚠
p.Met596Ile Single submitter ⚠
p.Phe388Tyr Single submitter ⚠
p.Pro159Ser Single submitter ⚠
p.Pro22Leu Single submitter ⚠
p.Pro440Ser Single submitter ⚠
p.Pro684Ser Single submitter ⚠
p.Ser141Leu Single submitter ⚠
p.Ser210Ile Single submitter ⚠
p.Ser47Ala Single submitter ⚠
p.Ser47Phe Single submitter ⚠
p.Ser58Leu Single submitter ⚠
p.Ser665Cys Single submitter ⚠
p.Ser83Phe Single submitter ⚠
p.Thr443Ile Single submitter ⚠
p.Thr501Arg Single submitter ⚠
p.Thr613Ile Single submitter ⚠
p.Tyr167Cys Single submitter ⚠
p.Val610Ala Single submitter ⚠