BBOF1 — 60 ClinVar variants
All ClinVar germline BBOF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
3 Likely benign · 57 Uncertain significance
Full BBOF1 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 lean, ClinVar uncertain 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BBOF1 p.Ala317Thr Uncertain significance Single submitter
- BBOF1 p.Arg175Gln Uncertain significance Single submitter
- BBOF1 p.Arg194Gln Uncertain significance Single submitter
- BBOF1 p.Arg356Lys Uncertain significance Single submitter
- BBOF1 p.Asn267Ser Uncertain significance Single submitter
- BBOF1 p.Asp17Val Uncertain significance Single submitter
- BBOF1 p.Asp507Asn Uncertain significance Single submitter
- BBOF1 p.Gln111Glu Uncertain significance Single submitter
- BBOF1 p.Gln134Arg Uncertain significance Single submitter
- BBOF1 p.Glu108Lys Uncertain significance Single submitter
- BBOF1 p.Glu483Asp Uncertain significance Single submitter
- BBOF1 p.Gly11Asp Uncertain significance Single submitter
- BBOF1 p.Gly130Glu Uncertain significance Single submitter
- BBOF1 p.Gly15Ser Uncertain significance Single submitter
- BBOF1 p.Gly439Arg Uncertain significance Single submitter
- BBOF1 p.His133Arg Uncertain significance Single submitter
- BBOF1 p.His211Arg Uncertain significance Single submitter
- BBOF1 p.His212Tyr Uncertain significance Single submitter
- BBOF1 p.His431Arg Uncertain significance Single submitter
- BBOF1 p.Ile204Met Uncertain significance Single submitter
- BBOF1 p.Ile215Met Uncertain significance Single submitter
- BBOF1 p.Ile275Phe Uncertain significance Single submitter
- BBOF1 p.Ile432Met Uncertain significance Single submitter
- BBOF1 p.Ile503Thr Uncertain significance Single submitter
- BBOF1 p.Leu236Pro Uncertain significance Single submitter
- BBOF1 p.Lys107Gln Uncertain significance Single submitter
- BBOF1 p.Lys274Asn Uncertain significance Single submitter
- BBOF1 p.Lys382Arg Uncertain significance Single submitter
- BBOF1 p.Lys405Gln Uncertain significance Single submitter
- BBOF1 p.Lys98Glu Uncertain significance Single submitter
- BBOF1 p.Met141Val Uncertain significance Single submitter
- BBOF1 p.Met318Val Uncertain significance Single submitter
- BBOF1 p.Pro461Leu Uncertain significance Single submitter
- BBOF1 p.Ser415Thr Uncertain significance Single submitter
- BBOF1 p.Thr106Ala Uncertain significance Single submitter
- BBOF1 p.Thr18Pro Uncertain significance Single submitter
- BBOF1 p.Thr258Asn Uncertain significance Single submitter
- BBOF1 p.Thr416Ser Uncertain significance Single submitter
- BBOF1 p.Val216Met Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- BBOF1 p.Arg344His Uncertain significance Single submitter
- BBOF1 p.Arg54His Uncertain significance Single submitter
- BBOF1 p.Asp55Gly Uncertain significance Single submitter
- BBOF1 p.Glu160Gly Uncertain significance Single submitter
- BBOF1 p.Glu196Asp Uncertain significance Single submitter
- BBOF1 p.Glu208Val Uncertain significance Single submitter
- BBOF1 p.Glu75Gln Uncertain significance Single submitter
- BBOF1 p.His177Tyr Uncertain significance Single submitter
- BBOF1 p.Ile142Thr Uncertain significance Single submitter
- BBOF1 p.Lys68Asn Uncertain significance Single submitter
- BBOF1 p.Lys6Asn Uncertain significance Single submitter
- BBOF1 p.Lys8Glu Uncertain significance Single submitter
- BBOF1 p.Lys9Thr Uncertain significance Single submitter
- BBOF1 p.Met393Ile Uncertain significance Single submitter
- BBOF1 p.Phe226Ser Uncertain significance Single submitter
- BBOF1 p.Phe306Leu Uncertain significance Single submitter
- BBOF1 p.Ser509Phe Uncertain significance Single submitter
- BBOF1 p.Thr303Ile Uncertain significance Single submitter
All BBOF1 variants
Likely benign 3
- p.Ala455= Single submitter
- p.Arg463= Single submitter
- p.Asp220Asn Single submitter
Uncertain significance 57
- p.Ala317Thr Single submitter ⚠
- p.Arg175Gln Single submitter ⚠
- p.Arg194Gln Single submitter ⚠
- p.Arg344His Single submitter ⚠
- p.Arg356Lys Single submitter ⚠
- p.Arg54His Single submitter ⚠
- p.Asn267Ser Single submitter ⚠
- p.Asp17Val Single submitter ⚠
- p.Asp507Asn Single submitter ⚠
- p.Asp55Gly Single submitter ⚠
- p.Gln111Glu Single submitter ⚠
- p.Gln134Arg Single submitter ⚠
- p.Glu108Lys Single submitter ⚠
- p.Glu160Gly Single submitter ⚠
- p.Glu196Asp Single submitter ⚠
- p.Glu208Val Single submitter ⚠
- p.Glu483Asp Single submitter ⚠
- p.Glu75Gln Single submitter ⚠
- p.Gly11Asp Single submitter ⚠
- p.Gly130Glu Single submitter ⚠
- p.Gly15Ser Single submitter ⚠
- p.Gly439Arg Single submitter ⚠
- p.His133Arg Single submitter ⚠
- p.His177Tyr Single submitter ⚠
- p.His211Arg Single submitter ⚠
- p.His212Tyr Single submitter ⚠
- p.His431Arg Single submitter ⚠
- p.Ile142Thr Single submitter ⚠
- p.Ile204Met Single submitter ⚠
- p.Ile215Met Single submitter ⚠
- p.Ile275Phe Single submitter ⚠
- p.Ile432Met Single submitter ⚠
- p.Ile503Thr Single submitter ⚠
- p.Leu236Pro Single submitter ⚠
- p.Lys107Gln Single submitter ⚠
- p.Lys274Asn Single submitter ⚠
- p.Lys382Arg Single submitter ⚠
- p.Lys405Gln Single submitter ⚠
- p.Lys68Asn Single submitter ⚠
- p.Lys6Asn Single submitter ⚠
- p.Lys8Glu Single submitter ⚠
- p.Lys98Glu Single submitter ⚠
- p.Lys9Thr Single submitter ⚠
- p.Met141Val Single submitter ⚠
- p.Met318Val Single submitter ⚠
- p.Met393Ile Single submitter ⚠
- p.Phe226Ser Single submitter ⚠
- p.Phe306Leu Single submitter ⚠
- p.Pro461Leu Single submitter ⚠
- p.Ser415Thr Single submitter ⚠
- p.Ser509Phe Single submitter ⚠
- p.Thr106Ala Single submitter ⚠
- p.Thr18Pro Single submitter ⚠
- p.Thr258Asn Single submitter ⚠
- p.Thr303Ile Single submitter ⚠
- p.Thr416Ser Single submitter ⚠
- p.Val216Met Single submitter ⚠