BTBD6 — 97 ClinVar variants

All ClinVar germline BTBD6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →

1 Conflicting · 1 Benign · 11 Likely benign · 84 Uncertain significance

Full BTBD6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 57

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.

BTBD6 p.Ser63Gly Conflicting Single submitter

Predictors lean, ClinVar uncertain 53

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

Predictors split 3

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

All BTBD6 variants

Conflicting classifications of pathogenicity 1

p.Ser63Gly Single submitter ⚠

Benign 1

p.Phe394= Single submitter

Likely benign 11

c.374+9G>A Single submitter
c.585-7C>T Single submitter
p.Ala206= Single submitter
p.Ala311= Single submitter
p.Arg116Gln Single submitter
p.Arg282Trp Single submitter
p.Cys507= Single submitter
p.Gly330= Single submitter
p.Pro145Leu Single submitter
p.Thr484= Single submitter
p.Val488Ile Single submitter

Uncertain significance 84

p.Gly408Arg Multiple submitters ⚠
p.Ala136Thr Single submitter
p.Ala147Thr Single submitter ⚠
p.Ala188Thr Single submitter ⚠
p.Ala215Val Single submitter ⚠
p.Ala350Thr Single submitter
p.Ala387Thr Single submitter ⚠
p.Ala538Val Single submitter
p.Ala56Thr Single submitter
p.Ala60Gly Single submitter ⚠
p.Ala77Val Single submitter ⚠
p.Ala99Pro Single submitter ⚠
p.Arg259Cys Single submitter ⚠
p.Arg273Gln Single submitter ⚠
p.Arg273Trp Single submitter ⚠
p.Arg282Pro Single submitter
p.Arg331Gln Single submitter ⚠
p.Arg375Cys Single submitter
p.Arg375His Single submitter ⚠
p.Arg405Gln Single submitter
p.Arg446Gln Single submitter
p.Asn108Asp Single submitter ⚠
p.Asn108His Single submitter ⚠
p.Asn132Lys Single submitter ⚠
p.Asn324Lys Single submitter ⚠
p.Asn522His Single submitter ⚠
p.Asp137Glu Single submitter ⚠
p.Asp265Gly Single submitter ⚠
p.Cys117Tyr Single submitter ⚠
p.Cys228Tyr Single submitter ⚠
p.Cys313Gly Single submitter ⚠
p.Cys507Tyr Single submitter
p.Gln110Glu Single submitter ⚠
p.Gln395Pro Single submitter
p.Glu111Gln Single submitter ⚠
p.Glu279Asp Single submitter ⚠
p.Glu279Lys Single submitter
p.Glu298Lys Single submitter ⚠
p.Gly161Ser Single submitter
p.Gly349Ser Single submitter
p.Gly448Arg Single submitter ⚠
p.Gly528Arg Single submitter ⚠
p.His109Gln Single submitter ⚠
p.His327Tyr Single submitter ⚠
p.Leu105Phe Single submitter ⚠
p.Leu386Phe Single submitter
p.Leu534Phe Single submitter
p.Lys297Glu Single submitter
p.Lys457Glu Single submitter ⚠
p.Lys457Thr Single submitter ⚠
p.Phe165Ser Single submitter
p.Phe302Leu Single submitter ⚠
p.Phe482Leu Single submitter
p.Pro102Arg Single submitter ⚠
p.Pro120Leu Single submitter
p.Pro144Ser Single submitter ⚠
p.Pro183Ser Single submitter
p.Pro374His Single submitter ⚠
p.Pro468Arg Single submitter ⚠
p.Pro468Gln Single submitter ⚠
p.Pro91Ser Single submitter ⚠
p.Pro95Leu Single submitter ⚠
p.Pro96Ser Single submitter ⚠
p.Pro97Leu Single submitter ⚠
p.Pro98Leu Single submitter ⚠
p.Ser112Asn Single submitter ⚠
p.Ser178Phe Single submitter ⚠
p.Ser199Arg Single submitter
p.Ser439Ile Single submitter
p.Ser464Asn Single submitter
p.Ser518Leu Single submitter
p.Ser520Gly Single submitter ⚠
p.Ser89Asn Single submitter ⚠
p.Thr321Ser Single submitter ⚠
p.Thr340Ala Single submitter ⚠
p.Thr340Pro Single submitter ⚠
p.Thr481Ile Single submitter ⚠
p.Thr484Met Single submitter
p.Trp470Cys Single submitter
p.Tyr334Ser Single submitter
p.Val151Met Single submitter
p.Val157Ile Single submitter ⚠
p.Val176Leu Single submitter ⚠
p.Val477Ile Single submitter ⚠