FBP2 — 69 ClinVar variants
All ClinVar germline FBP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
5 Benign · 2 Likely benign · 62 Uncertain significance
Full FBP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FBP2 p.Ile133Val Uncertain significance Multiple submitters
- FBP2 p.Ala166Glu Uncertain significance Single submitter
- FBP2 p.Ala25Ser Uncertain significance Single submitter
- FBP2 p.Arg141Lys Uncertain significance Single submitter
- FBP2 p.Arg16Cys Uncertain significance Single submitter
- FBP2 p.Arg16His Uncertain significance Single submitter
-
FBP2 p.Arg23His
Uncertain significance
Single submitter
neurodevelopmental disorder
-
FBP2 p.Arg255Pro
Uncertain significance
Single submitter
leukodystrophy, childhood-onset, remitting
- FBP2 p.Arg277Leu Uncertain significance Single submitter
- FBP2 p.Arg277Trp Uncertain significance Single submitter
- FBP2 p.Arg314Gln Uncertain significance Single submitter
-
FBP2 p.Asp122Asn
Uncertain significance
Single submitter
leukodystrophy, childhood-onset, remitting
- FBP2 p.Asp188Val Uncertain significance Single submitter
- FBP2 p.Asp324Tyr Uncertain significance Single submitter
- FBP2 p.Asp75Tyr Uncertain significance Single submitter
- FBP2 p.Gln333His Uncertain significance Single submitter
- FBP2 p.Gln33Pro Uncertain significance Single submitter
- FBP2 p.Glu281Gly Uncertain significance Single submitter
- FBP2 p.Glu309Lys Uncertain significance Single submitter
- FBP2 p.Glu30Lys Uncertain significance Single submitter
- FBP2 p.Glu327Asp Uncertain significance Single submitter
- FBP2 p.Gly123Arg Uncertain significance Single submitter
- FBP2 p.Gly192Asp Uncertain significance Single submitter
- FBP2 p.Gly260Ala Uncertain significance Single submitter
- FBP2 p.Gly299Arg Uncertain significance Single submitter
- FBP2 p.Ile104Val Uncertain significance Single submitter
- FBP2 p.Ile127Thr Uncertain significance Single submitter
- FBP2 p.Ile209Thr Uncertain significance Single submitter
- FBP2 p.Leu14Pro Uncertain significance Single submitter
- FBP2 p.Leu154Pro Uncertain significance Single submitter
- FBP2 p.Leu173Val Uncertain significance Single submitter
- FBP2 p.Leu212Pro Uncertain significance Single submitter
-
FBP2 p.Leu35Pro
Uncertain significance
Single submitter
leukodystrophy, childhood-onset, remitting
- FBP2 p.Met186Val Uncertain significance Single submitter
- FBP2 p.Met249Thr Uncertain significance Single submitter
- FBP2 p.Met85Ile Uncertain significance Single submitter
- FBP2 p.Phe118Ser Uncertain significance Single submitter
- FBP2 p.Phe7Val Uncertain significance Single submitter
- FBP2 p.Pro316Leu Uncertain significance Single submitter
- FBP2 p.Ser124Tyr Uncertain significance Single submitter
- FBP2 p.Ser170Ile Uncertain significance Single submitter
- FBP2 p.Thr13Ser Uncertain significance Single submitter
- FBP2 p.Thr2Met Uncertain significance Single submitter
- FBP2 p.Thr330Ile Uncertain significance Single submitter
- FBP2 p.Tyr114Cys Uncertain significance Single submitter
- FBP2 p.Tyr216His Uncertain significance Single submitter
-
FBP2 p.Val115Met
Uncertain significance
Single submitter
leukodystrophy, childhood-onset, remitting
- FBP2 p.Val182Glu Uncertain significance Single submitter
- FBP2 p.Val182Met Uncertain significance Single submitter
- FBP2 p.Val197Glu Uncertain significance Single submitter
- FBP2 p.Val306Leu Uncertain significance Single submitter
- FBP2 p.Val306Met Uncertain significance Single submitter
- FBP2 p.Val325Met Uncertain significance Single submitter
- FBP2 p.Val71Leu Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
- FBP2 p.Ala131Asp Uncertain significance Single submitter
- FBP2 p.Gly181Ser Uncertain significance Single submitter
-
FBP2 p.Gly237Asp
Uncertain significance
Single submitter
leukodystrophy, childhood-onset, remitting
- FBP2 p.Ile288Met Uncertain significance Single submitter
- FBP2 p.Val86Ala Benign Single submitter
All FBP2 variants
Benign 5
- p.Ser211Asn Multiple submitters
- p.Ter340Trp Multiple submitters
- p.Thr225= Multiple submitters
- p.Leu279Pro Single submitter
- p.Val86Ala Single submitter ⚠
Likely benign 2
- p.Ala163Thr Single submitter
- p.Tyr168= Single submitter
Uncertain significance 62
- p.Ile133Val Multiple submitters ⚠
- p.Ala131Asp Single submitter ⚠
- p.Ala166Glu Single submitter ⚠
- p.Ala166Thr Single submitter
- p.Ala25Ser Single submitter ⚠
- p.Arg141Lys Single submitter ⚠
- p.Arg158Cys Single submitter
- p.Arg16Cys Single submitter ⚠
- p.Arg16His Single submitter ⚠
- p.Arg23His Single submitter neurodevelopmental disorder ⚠
- p.Arg255Pro Single submitter leukodystrophy, childhood-onset, remitting ⚠
- p.Arg277Leu Single submitter ⚠
- p.Arg277Trp Single submitter ⚠
- p.Arg314Gln Single submitter ⚠
- p.Asp10Gly Single submitter
- p.Asp122Asn Single submitter leukodystrophy, childhood-onset, remitting ⚠
- p.Asp188Val Single submitter ⚠
- p.Asp324Tyr Single submitter ⚠
- p.Asp75Tyr Single submitter ⚠
- p.Gln333His Single submitter ⚠
- p.Gln33Pro Single submitter ⚠
- p.Glu281Gly Single submitter ⚠
- p.Glu309Lys Single submitter ⚠
- p.Glu30Lys Single submitter ⚠
- p.Glu327Asp Single submitter ⚠
- p.Gly123Arg Single submitter ⚠
- p.Gly181Ser Single submitter ⚠
- p.Gly192Asp Single submitter ⚠
- p.Gly237Asp Single submitter leukodystrophy, childhood-onset, remitting ⚠
- p.Gly260Ala Single submitter ⚠
- p.Gly299Arg Single submitter ⚠
- p.Ile104Val Single submitter ⚠
- p.Ile127Thr Single submitter ⚠
- p.Ile209Thr Single submitter ⚠
- p.Ile288Met Single submitter ⚠
- p.Leu14Pro Single submitter ⚠
- p.Leu154Pro Single submitter ⚠
- p.Leu173Val Single submitter ⚠
- p.Leu212Pro Single submitter ⚠
- p.Leu35Pro Single submitter leukodystrophy, childhood-onset, remitting ⚠
- p.Met186Val Single submitter ⚠
- p.Met249Thr Single submitter ⚠
- p.Met85Ile Single submitter ⚠
- p.Phe118Ser Single submitter ⚠
- p.Phe7Val Single submitter ⚠
- p.Pro316Leu Single submitter ⚠
- p.Ser124Tyr Single submitter ⚠
- p.Ser170Ile Single submitter ⚠
- p.Thr13Ser Single submitter ⚠
- p.Thr2Met Single submitter ⚠
- p.Thr330Ile Single submitter ⚠
- p.Tyr114Cys Single submitter ⚠
- p.Tyr216His Single submitter ⚠
- p.Val115Met Single submitter leukodystrophy, childhood-onset, remitting ⚠
- p.Val182Glu Single submitter ⚠
- p.Val182Met Single submitter ⚠
- p.Val197Glu Single submitter ⚠
- p.Val306Leu Single submitter ⚠
- p.Val306Met Single submitter ⚠
- p.Val325Met Single submitter ⚠
- p.Val66Met Single submitter
- p.Val71Leu Single submitter ⚠