BAHD1 — 134 ClinVar variants

All ClinVar germline BAHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →

1 Benign · 2 Likely benign · 131 Uncertain significance

Full BAHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 131

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 77

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

Predictors split 54

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

All BAHD1 variants

Benign 1

p.Gln298Lys Multiple submitters

Likely benign 2

p.Pro245Leu Single submitter
p.Ser292= Single submitter

Uncertain significance 131

p.Ala200Thr Single submitter ⚠
p.Ala264Thr Single submitter ⚠
p.Ala409Thr Single submitter ⚠
p.Ala409Val Single submitter ⚠
p.Ala418Pro Single submitter ⚠
p.Ala462Ser Single submitter ⚠
p.Ala462Thr Single submitter ⚠
p.Ala500Pro Single submitter ⚠
p.Ala532Pro Single submitter ⚠
p.Ala532Thr Single submitter ⚠
p.Ala534Gly Single submitter ⚠
p.Ala559Thr Single submitter ⚠
p.Arg115Cys Single submitter ⚠
p.Arg144Cys Single submitter ⚠
p.Arg144His Single submitter ⚠
p.Arg147Gln Single submitter ⚠
p.Arg153Cys Single submitter ⚠
p.Arg155His Single submitter ⚠
p.Arg157Cys Single submitter ⚠
p.Arg157Gly Single submitter ⚠
p.Arg159Cys Single submitter ⚠
p.Arg170Gln Single submitter ⚠
p.Arg172Gln Single submitter ⚠
p.Arg172Gly Single submitter ⚠
p.Arg181Gln Single submitter ⚠
p.Arg181Trp Single submitter ⚠
p.Arg194Cys Single submitter ⚠
p.Arg195Gln Single submitter ⚠
p.Arg19Cys Single submitter ⚠
p.Arg19His Single submitter ⚠
p.Arg219Gln Single submitter ⚠
p.Arg219Trp Single submitter ⚠
p.Arg227His Single submitter ⚠
p.Arg235Cys Single submitter ⚠
p.Arg246Gly Single submitter ⚠
p.Arg311Cys Single submitter ⚠
p.Arg311His Single submitter ⚠
p.Arg437Cys Single submitter ⚠
p.Arg437His Single submitter ⚠
p.Arg51His Single submitter ⚠
p.Arg52His Single submitter ⚠
p.Arg533His Single submitter ⚠
p.Arg550Cys Single submitter ⚠
p.Arg577His Single submitter ⚠
p.Arg579Cys Single submitter ⚠
p.Arg579His Single submitter ⚠
p.Arg581Cys Single submitter ⚠
p.Arg582Cys Single submitter ⚠
p.Arg583Cys Single submitter ⚠
p.Arg583His Single submitter ⚠
p.Arg584Cys Single submitter ⚠
p.Arg586His Single submitter ⚠
p.Arg58Leu Single submitter ⚠
p.Arg5Trp Single submitter ⚠
p.Arg60Cys Single submitter ⚠
p.Arg733Gln Single submitter ⚠
p.Arg84Gln Single submitter ⚠
p.Arg84Trp Single submitter ⚠
p.Asn123Ser Single submitter ⚠
p.Asp108Glu Single submitter ⚠
p.Asp156Val Single submitter ⚠
p.Asp196Gly Single submitter ⚠
p.Asp443Gly Single submitter ⚠
p.Cys555Ser Single submitter ⚠
p.Gln262Glu Single submitter ⚠
p.Gln675Pro Single submitter ⚠
p.Glu305Gly Single submitter ⚠
p.Glu442Lys Single submitter ⚠
p.Glu706Asp Single submitter ⚠
p.Glu91Lys Single submitter ⚠
p.Gly290Arg Single submitter ⚠
p.Gly453Arg Single submitter ⚠
p.Gly468Ser Single submitter ⚠
p.Gly479Val Single submitter ⚠
p.His152Gln Single submitter ⚠
p.His229Arg Single submitter ⚠
p.His343Arg Single submitter ⚠
p.His461Tyr Single submitter ⚠
p.His495Arg Single submitter ⚠
p.His766Gln Single submitter ⚠
p.Leu367Met Single submitter ⚠
p.Leu415Ile Single submitter ⚠
p.Leu503His Single submitter ⚠
p.Leu503Ile Single submitter ⚠
p.Leu503Pro Single submitter ⚠
p.Leu504Gln Single submitter ⚠
p.Leu776Ile Single submitter ⚠
p.Lys571Gln Single submitter ⚠
p.Lys68Asn Single submitter ⚠
p.Met357Thr Single submitter ⚠
p.Met398Val Single submitter ⚠
p.Met473Ile Single submitter ⚠
p.Phe212Leu Single submitter ⚠
p.Phe428Leu Single submitter ⚠
p.Pro100Ser Single submitter ⚠
p.Pro193Leu Single submitter ⚠
p.Pro240Ala Single submitter ⚠
p.Pro247Arg Single submitter ⚠
p.Pro288His Single submitter ⚠
p.Pro328Ser Single submitter ⚠
p.Pro354Leu Single submitter ⚠
p.Pro356Leu Single submitter ⚠
p.Pro406Leu Single submitter ⚠
p.Pro431Thr Single submitter ⚠
p.Pro489His Single submitter ⚠
p.Pro489Leu Single submitter ⚠
p.Pro502Ala Single submitter ⚠
p.Pro541Ser Single submitter ⚠
p.Pro671Arg Single submitter ⚠
p.Pro753Ala Single submitter ⚠
p.Ser146Asn Single submitter ⚠
p.Ser154Asn Single submitter ⚠
p.Ser265Asn Single submitter ⚠
p.Ser28Asn Single submitter ⚠
p.Ser526Leu Single submitter ⚠
p.Ser545Cys Single submitter ⚠
p.Ser561Thr Single submitter ⚠
p.Ser615Asn Single submitter ⚠
p.Thr287Pro Single submitter ⚠
p.Thr523Ala Single submitter ⚠
p.Thr558Ala Single submitter ⚠
p.Trp164Leu Single submitter ⚠
p.Trp275Cys Single submitter ⚠
p.Trp433Arg Single submitter ⚠
p.Tyr257Ser Single submitter ⚠
p.Tyr380His Single submitter ⚠
p.Val232Ile Single submitter ⚠
p.Val293Ile Single submitter ⚠
p.Val34Ile Single submitter ⚠
p.Val369Phe Single submitter ⚠
p.Val518Ile Single submitter ⚠