MBOAT1 — 71 ClinVar variants
All ClinVar germline MBOAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
6 Likely benign · 65 Uncertain significance
Full MBOAT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 58
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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MBOAT1 p.Ala403Val Uncertain significance Single submitter
- MBOAT1 p.Arg125Gln Uncertain significance Single submitter
- MBOAT1 p.Arg364Gln Uncertain significance Single submitter
- MBOAT1 p.Arg364Leu Uncertain significance Single submitter
- MBOAT1 p.Arg364Trp Uncertain significance Single submitter
- MBOAT1 p.Asn406Lys Uncertain significance Single submitter
- MBOAT1 p.Asn487Ser Uncertain significance Single submitter
- MBOAT1 p.Asn490Ser Uncertain significance Single submitter
- MBOAT1 p.Asp62Asn Uncertain significance Single submitter
- MBOAT1 p.Cys283Ser Uncertain significance Single submitter
- MBOAT1 p.Cys283Tyr Uncertain significance Single submitter
- MBOAT1 p.Cys324Tyr Uncertain significance Single submitter
- MBOAT1 p.Gln33Arg Uncertain significance Single submitter
- MBOAT1 p.Gly246Ser Uncertain significance Single submitter
- MBOAT1 p.Gly386Val Uncertain significance Single submitter
- MBOAT1 p.His157Leu Uncertain significance Single submitter
- MBOAT1 p.His172Arg Uncertain significance Single submitter
- MBOAT1 p.Ile126Met Uncertain significance Single submitter
- MBOAT1 p.Ile242Met Uncertain significance Single submitter
- MBOAT1 p.Ile336Thr Uncertain significance Single submitter
- MBOAT1 p.Ile375Val Uncertain significance Single submitter
- MBOAT1 p.Ile97Val Uncertain significance Single submitter
- MBOAT1 p.Leu167Pro Uncertain significance Single submitter
- MBOAT1 p.Leu399Phe Uncertain significance Single submitter
- MBOAT1 p.Leu432Gln Uncertain significance Single submitter
- MBOAT1 p.Leu469Ile Uncertain significance Single submitter
- MBOAT1 p.Lys244Arg Uncertain significance Single submitter
- MBOAT1 p.Lys275Thr Uncertain significance Single submitter
- MBOAT1 p.Met217Val Uncertain significance Single submitter
- MBOAT1 p.Met344Val Uncertain significance Single submitter
- MBOAT1 p.Phe36Ser Uncertain significance Single submitter
- MBOAT1 p.Phe458Ser Uncertain significance Single submitter
- MBOAT1 p.Phe470Tyr Uncertain significance Single submitter
- MBOAT1 p.Phe71Leu Uncertain significance Single submitter
- MBOAT1 p.Pro233Leu Uncertain significance Single submitter
- MBOAT1 p.Thr100Ala Uncertain significance Single submitter
- MBOAT1 p.Thr100Ser Uncertain significance Single submitter
- MBOAT1 p.Thr393Asn Uncertain significance Single submitter
- MBOAT1 p.Thr494Ile Uncertain significance Single submitter
- MBOAT1 p.Trp427Arg Uncertain significance Single submitter
- MBOAT1 p.Tyr296Cys Uncertain significance Single submitter
- MBOAT1 p.Tyr453Cys Uncertain significance Single submitter
- MBOAT1 p.Tyr453His Uncertain significance Single submitter
- MBOAT1 p.Tyr74Cys Uncertain significance Single submitter
- MBOAT1 p.Val273Ile Uncertain significance Single submitter
- MBOAT1 p.Val365Leu Uncertain significance Single submitter
- MBOAT1 p.Val365Phe Uncertain significance Single submitter
- MBOAT1 p.Val429Ala Uncertain significance Single submitter
- MBOAT1 p.Val446Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- MBOAT1 p.Arg162Gln Uncertain significance Single submitter
- MBOAT1 p.Asn201Lys Uncertain significance Single submitter
- MBOAT1 p.Asn330Ser Uncertain significance Single submitter
- MBOAT1 p.Met193Val Uncertain significance Single submitter
- MBOAT1 p.Phe111Leu Uncertain significance Single submitter
- MBOAT1 p.Ser329Leu Uncertain significance Single submitter
- MBOAT1 p.Ser341Gly Uncertain significance Single submitter
- MBOAT1 p.Thr398Ala Uncertain significance Single submitter
- MBOAT1 p.Tyr83His Uncertain significance Single submitter
All MBOAT1 variants
Likely benign 6
- p.Ala424Val Single submitter
- p.Arg226Gln Single submitter
- p.Gln363Glu Single submitter
- p.Gly140= Single submitter
- p.Thr355Ala Single submitter
- p.Val429Ile Single submitter
Uncertain significance 65
- p.Ala403Val Single submitter ⚠
- p.Arg125Gln Single submitter ⚠
- p.Arg162Gln Single submitter ⚠
- p.Arg364Gln Single submitter ⚠
- p.Arg364Leu Single submitter ⚠
- p.Arg364Trp Single submitter ⚠
- p.Asn201Lys Single submitter ⚠
- p.Asn330Ser Single submitter ⚠
- p.Asn406Lys Single submitter ⚠
- p.Asn487Ser Single submitter ⚠
- p.Asn490Ser Single submitter ⚠
- p.Asp62Asn Single submitter ⚠
- p.Cys283Ser Single submitter ⚠
- p.Cys283Tyr Single submitter ⚠
- p.Cys324Tyr Single submitter ⚠
- p.Gln33Arg Single submitter ⚠
- p.Gly246Ser Single submitter ⚠
- p.Gly386Val Single submitter ⚠
- p.His157Leu Single submitter ⚠
- p.His172Arg Single submitter ⚠
- p.His86Tyr Single submitter
- p.Ile126Met Single submitter ⚠
- p.Ile242Met Single submitter ⚠
- p.Ile336Thr Single submitter ⚠
- p.Ile375Val Single submitter ⚠
- p.Ile97Val Single submitter ⚠
- p.Leu167Pro Single submitter ⚠
- p.Leu399Phe Single submitter ⚠
- p.Leu432Gln Single submitter ⚠
- p.Leu469Ile Single submitter ⚠
- p.Lys244Arg Single submitter ⚠
- p.Lys275Thr Single submitter ⚠
- p.Lys419Met Single submitter
- p.Met193Val Single submitter ⚠
- p.Met217Val Single submitter ⚠
- p.Met344Val Single submitter ⚠
- p.Phe111Leu Single submitter ⚠
- p.Phe36Ser Single submitter ⚠
- p.Phe458Ser Single submitter ⚠
- p.Phe470Tyr Single submitter ⚠
- p.Phe71Leu Single submitter ⚠
- p.Pro233Leu Single submitter ⚠
- p.Pro235Ser Single submitter
- p.Ser329Leu Single submitter ⚠
- p.Ser341Asn Single submitter
- p.Ser341Gly Single submitter ⚠
- p.Thr100Ala Single submitter ⚠
- p.Thr100Ser Single submitter ⚠
- p.Thr248Ile Single submitter
- p.Thr393Asn Single submitter ⚠
- p.Thr398Ala Single submitter ⚠
- p.Thr494Ile Single submitter ⚠
- p.Trp427Arg Single submitter ⚠
- p.Tyr284His Single submitter
- p.Tyr296Cys Single submitter ⚠
- p.Tyr453Cys Single submitter ⚠
- p.Tyr453His Single submitter ⚠
- p.Tyr74Cys Single submitter ⚠
- p.Tyr83His Single submitter ⚠
- p.Val195Ala Single submitter
- p.Val273Ile Single submitter ⚠
- p.Val365Leu Single submitter ⚠
- p.Val365Phe Single submitter ⚠
- p.Val429Ala Single submitter ⚠
- p.Val446Ile Single submitter ⚠