MBOAT4 — 56 ClinVar variants
All ClinVar germline MBOAT4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
3 Benign · 7 Likely benign · 46 Uncertain significance
Full MBOAT4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MBOAT4 p.Ala204Val Uncertain significance Single submitter
- MBOAT4 p.Ala269Val Uncertain significance Single submitter
- MBOAT4 p.Ala352Ser Uncertain significance Single submitter
- MBOAT4 p.Ala365Thr Uncertain significance Single submitter
- MBOAT4 p.Ala384Thr Uncertain significance Single submitter
- MBOAT4 p.Arg208Ser Uncertain significance Single submitter
- MBOAT4 p.Arg224Lys Uncertain significance Single submitter
- MBOAT4 p.Arg295Lys Uncertain significance Single submitter
- MBOAT4 p.Arg315Gln Uncertain significance Single submitter
- MBOAT4 p.Arg375Gly Uncertain significance Single submitter
- MBOAT4 p.Asn27Ser Uncertain significance Single submitter
- MBOAT4 p.Asn307Lys Uncertain significance Single submitter
- MBOAT4 p.Asp263Asn Uncertain significance Single submitter
- MBOAT4 p.Cys69Phe Uncertain significance Single submitter
- MBOAT4 p.Gln211Arg Uncertain significance Single submitter
- MBOAT4 p.Gly192Glu Uncertain significance Single submitter
- MBOAT4 p.Ile390Thr Uncertain significance Single submitter
- MBOAT4 p.Ile422Val Uncertain significance Single submitter
- MBOAT4 p.Leu101Val Uncertain significance Single submitter
- MBOAT4 p.Leu29Ile Uncertain significance Single submitter
- MBOAT4 p.Leu4Phe Uncertain significance Single submitter
- MBOAT4 p.Met374Ile Uncertain significance Single submitter
- MBOAT4 p.Phe149Ser Uncertain significance Single submitter
- MBOAT4 p.Pro373Leu Uncertain significance Single submitter
- MBOAT4 p.Ser134Ala Uncertain significance Single submitter
- MBOAT4 p.Trp207Arg Uncertain significance Single submitter
- MBOAT4 p.Trp3Cys Uncertain significance Single submitter
- MBOAT4 p.Tyr242Cys Uncertain significance Single submitter
- MBOAT4 p.Tyr256Ser Uncertain significance Single submitter
- MBOAT4 p.Val190Ile Uncertain significance Single submitter
- MBOAT4 p.Val220Met Uncertain significance Single submitter
- MBOAT4 p.Val349Ile Uncertain significance Single submitter
- MBOAT4 p.Val53Met Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- MBOAT4 p.Glu139Lys Uncertain significance Single submitter
- MBOAT4 p.Gly178Ala Uncertain significance Single submitter
- MBOAT4 p.Gly270Asp Uncertain significance Single submitter
- MBOAT4 p.Gly57Cys Uncertain significance Single submitter
- MBOAT4 p.His341Leu Uncertain significance Single submitter
- MBOAT4 p.His83Arg Uncertain significance Single submitter
- MBOAT4 p.Leu155Ser Uncertain significance Single submitter
- MBOAT4 p.Phe346Ser Uncertain significance Single submitter
- MBOAT4 p.Pro164Leu Uncertain significance Single submitter
- MBOAT4 p.Ser122Phe Uncertain significance Single submitter
- MBOAT4 p.Thr386Ile Uncertain significance Single submitter
All MBOAT4 variants
Benign 3
- p.Arg189His Multiple submitters
- p.Pro286= Multiple submitters
- p.Ter436Arg Multiple submitters
Likely benign 7
- p.Ala428Val Single submitter
- p.Ala70Thr Single submitter
- p.Arg189Cys Single submitter
- p.Arg38His Single submitter
- p.Asn219= Single submitter
- p.Gly276= Single submitter
- p.Phe238Leu Single submitter
Uncertain significance 46
- p.Ala204Val Single submitter ⚠
- p.Ala269Val Single submitter ⚠
- p.Ala352Ser Single submitter ⚠
- p.Ala365Thr Single submitter ⚠
- p.Ala384Thr Single submitter ⚠
- p.Arg208Ser Single submitter ⚠
- p.Arg224Lys Single submitter ⚠
- p.Arg295Lys Single submitter ⚠
- p.Arg315Gln Single submitter ⚠
- p.Arg375Gly Single submitter ⚠
- p.Asn27Ser Single submitter ⚠
- p.Asn307Lys Single submitter ⚠
- p.Asp263Asn Single submitter ⚠
- p.Cys69Phe Single submitter ⚠
- p.Gln211Arg Single submitter ⚠
- p.Gln387Arg Single submitter
- p.Glu139Lys Single submitter ⚠
- p.Gly178Ala Single submitter ⚠
- p.Gly192Glu Single submitter ⚠
- p.Gly270Asp Single submitter ⚠
- p.Gly57Cys Single submitter ⚠
- p.His341Leu Single submitter ⚠
- p.His83Arg Single submitter ⚠
- p.Ile390Thr Single submitter ⚠
- p.Ile422Val Single submitter ⚠
- p.Leu101Val Single submitter ⚠
- p.Leu155Ser Single submitter ⚠
- p.Leu29Ile Single submitter ⚠
- p.Leu4Phe Single submitter ⚠
- p.Met374Ile Single submitter ⚠
- p.Phe149Ser Single submitter ⚠
- p.Phe346Ser Single submitter ⚠
- p.Pro164Leu Single submitter ⚠
- p.Pro373Leu Single submitter ⚠
- p.Ser122Phe Single submitter ⚠
- p.Ser134Ala Single submitter ⚠
- p.Thr386Ile Single submitter ⚠
- p.Trp207Arg Single submitter ⚠
- p.Trp3Cys Single submitter ⚠
- p.Trp93Leu Single submitter
- p.Tyr242Cys Single submitter ⚠
- p.Tyr256Ser Single submitter ⚠
- p.Val190Ile Single submitter ⚠
- p.Val220Met Single submitter ⚠
- p.Val349Ile Single submitter ⚠
- p.Val53Met Single submitter ⚠