FEM1B — 48 ClinVar variants
All ClinVar germline FEM1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
1 Pathogenic · 1 Benign · 1 Likely benign · 45 Uncertain significance
Full FEM1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FEM1B p.Ala232Gly Uncertain significance Single submitter
- FEM1B p.Ala242Thr Uncertain significance Single submitter
- FEM1B p.Ala535Pro Uncertain significance Single submitter
- FEM1B p.Arg171Thr Uncertain significance Single submitter
- FEM1B p.Arg177Cys Uncertain significance Single submitter
- FEM1B p.Arg246Gln Uncertain significance Single submitter
- FEM1B p.Arg318Gln Uncertain significance Single submitter
- FEM1B p.Arg482Cys Uncertain significance Single submitter
- FEM1B p.Arg482His Uncertain significance Single submitter
- FEM1B p.Asn146Ser Uncertain significance Single submitter
- FEM1B p.Asn511His Uncertain significance Single submitter
- FEM1B p.Asn573Asp Uncertain significance Single submitter
- FEM1B p.Asp179Tyr Uncertain significance Single submitter
- FEM1B p.Asp201Gly Uncertain significance Single submitter
- FEM1B p.Cys308Arg Uncertain significance Single submitter
- FEM1B p.Glu292Lys Uncertain significance Single submitter
- FEM1B p.Glu462Asp Uncertain significance Single submitter
- FEM1B p.Gly219Arg Uncertain significance Single submitter
- FEM1B p.Gly37Ser Uncertain significance Single submitter
- FEM1B p.Gly563Arg Uncertain significance Single submitter
- FEM1B p.Gly6Val Uncertain significance Single submitter
- FEM1B p.Ile147Val Uncertain significance Single submitter
- FEM1B p.Ile200Thr Uncertain significance Single submitter
- FEM1B p.Ile290Val Uncertain significance Single submitter
- FEM1B p.Ile335Ser Uncertain significance Single submitter
- FEM1B p.Ile347Val Uncertain significance Single submitter
- FEM1B p.Leu239Pro Uncertain significance Single submitter
- FEM1B p.Leu25Phe Uncertain significance Single submitter
- FEM1B p.Leu336Ser Uncertain significance Single submitter
- FEM1B p.Met437Val Uncertain significance Single submitter
- FEM1B p.Thr167Ala Uncertain significance Single submitter
- FEM1B p.Thr221Met Uncertain significance Single submitter
- FEM1B p.Tyr277Cys Uncertain significance Single submitter
- FEM1B p.Tyr277His Uncertain significance Single submitter
- FEM1B p.Tyr7Cys Uncertain significance Single submitter
- FEM1B p.Val506Ile Uncertain significance Single submitter
- FEM1B p.Val8Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- FEM1B p.Ala22Val Uncertain significance Single submitter
- FEM1B p.Ala523Ser Uncertain significance Single submitter
- FEM1B p.Gly88Asp Uncertain significance Single submitter
- FEM1B p.Ile330Arg Uncertain significance Single submitter
- FEM1B p.Leu398Phe Uncertain significance Single submitter
- FEM1B p.Lys598Gln Uncertain significance Single submitter
- FEM1B p.Tyr349His Uncertain significance Single submitter
- FEM1B p.Val605Leu Uncertain significance Single submitter
All FEM1B variants
Pathogenic 1
- p.Arg126Gln No assertion criteria neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities
Benign 1
- p.Ser13= Multiple submitters
Likely benign 1
- p.Asn435Ser Single submitter
Uncertain significance 45
- p.Ala22Val Single submitter ⚠
- p.Ala232Gly Single submitter ⚠
- p.Ala242Thr Single submitter ⚠
- p.Ala523Ser Single submitter ⚠
- p.Ala535Pro Single submitter ⚠
- p.Arg171Thr Single submitter ⚠
- p.Arg177Cys Single submitter ⚠
- p.Arg246Gln Single submitter ⚠
- p.Arg318Gln Single submitter ⚠
- p.Arg482Cys Single submitter ⚠
- p.Arg482His Single submitter ⚠
- p.Asn146Ser Single submitter ⚠
- p.Asn511His Single submitter ⚠
- p.Asn573Asp Single submitter ⚠
- p.Asp179Tyr Single submitter ⚠
- p.Asp201Gly Single submitter ⚠
- p.Cys308Arg Single submitter ⚠
- p.Glu292Lys Single submitter ⚠
- p.Glu462Asp Single submitter ⚠
- p.Gly219Arg Single submitter ⚠
- p.Gly37Ser Single submitter ⚠
- p.Gly563Arg Single submitter ⚠
- p.Gly6Val Single submitter ⚠
- p.Gly88Asp Single submitter ⚠
- p.Ile147Val Single submitter ⚠
- p.Ile200Thr Single submitter ⚠
- p.Ile290Val Single submitter ⚠
- p.Ile330Arg Single submitter ⚠
- p.Ile335Ser Single submitter ⚠
- p.Ile347Val Single submitter ⚠
- p.Leu239Pro Single submitter ⚠
- p.Leu25Phe Single submitter ⚠
- p.Leu336Ser Single submitter ⚠
- p.Leu398Phe Single submitter ⚠
- p.Lys598Gln Single submitter ⚠
- p.Met437Val Single submitter ⚠
- p.Thr167Ala Single submitter ⚠
- p.Thr221Met Single submitter ⚠
- p.Tyr277Cys Single submitter ⚠
- p.Tyr277His Single submitter ⚠
- p.Tyr349His Single submitter ⚠
- p.Tyr7Cys Single submitter ⚠
- p.Val506Ile Single submitter ⚠
- p.Val605Leu Single submitter ⚠
- p.Val8Ile Single submitter ⚠