BTBD18 — 98 ClinVar variants

All ClinVar germline BTBD18 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 87 flagged for review →

6 Likely benign · 92 Uncertain significance

Full BTBD18 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 87

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 85

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

Predictors split 2

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

All BTBD18 variants

Likely benign 6

p.Ala291Thr Single submitter
p.Asp310Asn Single submitter
p.Gln102Arg Single submitter
p.Gly518Arg Single submitter
p.Gly567Glu Single submitter
p.Lys378Arg Single submitter

Uncertain significance 92

p.Arg113Cys Single submitter ⚠
p.Arg116Cys Single submitter ⚠
p.Arg141Gln Single submitter ⚠
p.Arg15Gln Single submitter ⚠
p.Arg15Trp Single submitter ⚠
p.Arg232Gly Single submitter ⚠
p.Arg295Gln Single submitter ⚠
p.Arg295Trp Single submitter ⚠
p.Arg338Gln Single submitter ⚠
p.Arg413Ile Single submitter ⚠
p.Arg484Leu Single submitter ⚠
p.Arg590His Single submitter ⚠
p.Arg590Leu Single submitter ⚠
p.Arg621Lys Single submitter ⚠
p.Arg62His Single submitter ⚠
p.Arg65Gln Single submitter ⚠
p.Arg65Leu Single submitter ⚠
p.Arg65Trp Single submitter ⚠
p.Asn221Lys Single submitter ⚠
p.Asn405Asp Single submitter ⚠
p.Asp310Gly Single submitter ⚠
p.Asp31His Single submitter ⚠
p.Asp470Asn Single submitter ⚠
p.Gln102Pro Single submitter ⚠
p.Gln381Glu Single submitter ⚠
p.Gln394Arg Single submitter ⚠
p.Gln418Glu Single submitter ⚠
p.Glu451Gln Single submitter ⚠
p.Glu508Val Single submitter ⚠
p.Glu520Lys Single submitter ⚠
p.Glu538Ala Single submitter ⚠
p.Glu553Lys Single submitter ⚠
p.Glu560Gln Single submitter ⚠
p.Glu564Lys Single submitter ⚠
p.Glu663Gln Single submitter ⚠
p.Glu703Lys Single submitter
p.Glu77Gln Single submitter ⚠
p.Glu77Lys Single submitter ⚠
p.Glu97Ala Single submitter
p.Gly333Asp Single submitter ⚠
p.Gly353Glu Single submitter
p.Gly398Arg Single submitter ⚠
p.Gly398Glu Single submitter ⚠
p.Gly521Arg Single submitter ⚠
p.Gly533Glu Single submitter ⚠
p.Gly660Asp Single submitter ⚠
p.Gly71Ser Single submitter ⚠
p.Ile363Met Single submitter ⚠
p.Ile429Val Single submitter ⚠
p.Ile461Thr Single submitter ⚠
p.Ile511Thr Single submitter ⚠
p.Leu360Ile Single submitter ⚠
p.Leu494Pro Single submitter ⚠
p.Leu616Pro Single submitter ⚠
p.Leu89Val Single submitter ⚠
p.Lys132Arg Single submitter ⚠
p.Lys305Glu Single submitter ⚠
p.Met422Thr Single submitter ⚠
p.Met547Thr Single submitter ⚠
p.Met577Ile Single submitter ⚠
p.Pro134Ser Single submitter ⚠
p.Pro151Leu Single submitter ⚠
p.Pro168His Single submitter ⚠
p.Pro231Leu Single submitter ⚠
p.Pro252Ser Single submitter ⚠
p.Pro376Ser Single submitter ⚠
p.Pro450Leu Single submitter ⚠
p.Pro477Leu Single submitter ⚠
p.Pro510Ala Single submitter ⚠
p.Pro578Leu Single submitter ⚠
p.Pro619His Single submitter ⚠
p.Pro700Ser Single submitter
p.Ser110Phe Single submitter ⚠
p.Ser226Asn Single submitter ⚠
p.Ser284Gly Single submitter ⚠
p.Ser30Asn Single submitter ⚠
p.Ser318Gly Single submitter ⚠
p.Ser339Thr Single submitter ⚠
p.Ser513Phe Single submitter ⚠
p.Thr276Ile Single submitter ⚠
p.Thr292Ile Single submitter ⚠
p.Thr380Ala Single submitter ⚠
p.Thr471Ala Single submitter ⚠
p.Thr486Arg Single submitter
p.Thr524Met Single submitter ⚠
p.Thr532Lys Single submitter ⚠
p.Thr598Ile Single submitter ⚠
p.Thr598Ser Single submitter ⚠
p.Val100Leu Single submitter ⚠
p.Val254Met Single submitter ⚠
p.Val342Ile Single submitter ⚠
p.Val693Ala Single submitter ⚠