BTBD17 — 142 ClinVar variants

All ClinVar germline BTBD17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →

80 Likely benign · 62 Uncertain significance

Full BTBD17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 61

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 52

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

Predictors split 9

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

All BTBD17 variants

Likely benign 80

p.Ala201= Single submitter
p.Ala236= Single submitter
p.Ala246= Single submitter
p.Ala263= Single submitter
p.Ala273= Single submitter
p.Ala295= Single submitter
p.Ala380= Single submitter
p.Ala383= Single submitter
p.Ala384= Single submitter
p.Arg140= Single submitter
p.Arg152= Single submitter
p.Arg250= Single submitter
p.Arg256= Single submitter
p.Arg370= Single submitter
p.Arg390= Single submitter
p.Asn307= Single submitter
p.Asn458= Single submitter
p.Asp226= Single submitter
p.Asp334= Single submitter
p.Gln218= Single submitter
p.Gln264= Single submitter
p.Gln420His Single submitter
p.Glu227= Single submitter
p.Gly126= Single submitter
p.Gly164= Single submitter
p.Gly164Glu Single submitter
p.Gly165= Single submitter
p.Gly178Ser Single submitter
p.Gly239= Single submitter
p.Gly308= Single submitter
p.Gly439= Single submitter
p.His232Gln Single submitter
p.His348= Single submitter
p.His461= Single submitter
p.Ile255= Single submitter
p.Ile465= Single submitter
p.Leu123= Single submitter
p.Leu150= Single submitter
p.Leu184= Single submitter
p.Leu213= Single submitter
p.Leu216= Single submitter
p.Leu217= Single submitter
p.Leu222= Single submitter
p.Leu230= Single submitter
p.Leu268= Single submitter
p.Leu285= Single submitter
p.Leu286= Single submitter
p.Leu287= Single submitter
p.Leu317= Single submitter
p.Leu365= Single submitter
p.Leu462= Single submitter
p.Leu473= Single submitter
p.Met18Ile Single submitter
p.Phe266= Single submitter
p.Phe303= Single submitter
p.Pro210= Single submitter
p.Pro244= Single submitter
p.Pro245= Single submitter
p.Pro261= Single submitter
p.Pro280= Single submitter
p.Pro319= Single submitter
p.Pro324= Single submitter
p.Pro330= Single submitter
p.Pro345= Single submitter
p.Pro362= Single submitter
p.Pro366= Single submitter
p.Pro371= Single submitter
p.Pro386= Single submitter
p.Pro391= Single submitter
p.Ser346= Single submitter
p.Thr133= Single submitter
p.Thr379= Single submitter
p.Thr412= Single submitter
p.Tyr157= Single submitter
p.Tyr470= Single submitter
p.Val367= Single submitter
p.Val372= Single submitter
p.Val395= Single submitter
p.Val469= Single submitter
p.Ala294= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma

Uncertain significance 62

p.Ala113Thr Single submitter ⚠
p.Ala160Val Single submitter ⚠
p.Ala248Thr Single submitter ⚠
p.Ala254Val Single submitter ⚠
p.Ala301Val Single submitter ⚠
p.Ala310Thr Single submitter ⚠
p.Ala350Glu Single submitter ⚠
p.Ala350Ser Single submitter ⚠
p.Ala383Pro Single submitter ⚠
p.Ala383Val Single submitter ⚠
p.Ala384Thr Single submitter ⚠
p.Ala417Thr Single submitter ⚠
p.Arg121Gly Single submitter ⚠
p.Arg140Lys Single submitter ⚠
p.Arg242Gln Single submitter ⚠
p.Arg271His Single submitter ⚠
p.Arg58Trp Single submitter ⚠
p.Arg68Gln Single submitter ⚠
p.Arg68Trp Single submitter ⚠
p.Arg78Gln Single submitter ⚠
p.Asn307Lys Single submitter ⚠
p.Asp111Glu Single submitter ⚠
p.Asp33Asn Single submitter ⚠
p.Asp403Asn Single submitter ⚠
p.Asp64Asn Single submitter ⚠
p.Asp75Asn Single submitter ⚠
p.Cys112Tyr Single submitter ⚠
p.Gln215His Single submitter ⚠
p.Gln264His Single submitter ⚠
p.Gln267Arg Single submitter ⚠
p.Gln419His Single submitter ⚠
p.Gln433Arg Single submitter ⚠
p.Glu182Lys Single submitter ⚠
p.Glu186Gln Single submitter ⚠
p.Glu37Lys Single submitter ⚠
p.Glu96Asp Single submitter ⚠
p.Gly36Arg Single submitter ⚠
p.Gly36Glu Single submitter ⚠
p.Gly389Ser Single submitter ⚠
p.Gly402Ser Single submitter ⚠
p.His299Pro Single submitter ⚠
p.His461Asn Single submitter
p.Ile120Val Single submitter ⚠
p.Ile43Val Single submitter ⚠
p.Leu19Met Single submitter ⚠
p.Leu50Val Single submitter ⚠
p.Leu53Phe Single submitter ⚠
p.Met18Leu Single submitter ⚠
p.Phe303Leu Single submitter ⚠
p.Pro109Thr Single submitter ⚠
p.Pro168Leu Single submitter ⚠
p.Pro244Leu Single submitter ⚠
p.Pro258Ala Single submitter ⚠
p.Pro9Leu Single submitter ⚠
p.Ser7Cys Single submitter ⚠
p.Thr476Asn Single submitter ⚠
p.Tyr145Cys Single submitter ⚠
p.Val130Ala Single submitter ⚠
p.Val130Met Single submitter ⚠
p.Val372Ala Single submitter ⚠
p.Val469Ile Single submitter ⚠
p.Val77Ile Single submitter ⚠