FIP1L1 — 50 ClinVar variants
All ClinVar germline FIP1L1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
1 Benign · 8 Likely benign · 41 Uncertain significance
Full FIP1L1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FIP1L1 p.Ala577Val Uncertain significance Multiple submitters
- FIP1L1 p.Ala255Thr Uncertain significance Single submitter
- FIP1L1 p.Ala399Thr Uncertain significance Single submitter
- FIP1L1 p.Ala423Ser Uncertain significance Single submitter
- FIP1L1 p.Arg481Cys Uncertain significance Single submitter
- FIP1L1 p.Asn181Ile Uncertain significance Single submitter
- FIP1L1 p.Asn289Ser Uncertain significance Single submitter
- FIP1L1 p.Asn428Ser Uncertain significance Single submitter
- FIP1L1 p.Asp460Glu Uncertain significance Single submitter
- FIP1L1 p.Asp490Glu Uncertain significance Single submitter
- FIP1L1 p.Gln192Leu Uncertain significance Single submitter
- FIP1L1 p.Glu303Lys Uncertain significance Single submitter
- FIP1L1 p.Glu480Asp Uncertain significance Single submitter
- FIP1L1 p.Phe160Ser Uncertain significance Single submitter
- FIP1L1 p.Pro203Ala Uncertain significance Single submitter
- FIP1L1 p.Pro269Leu Uncertain significance Single submitter
- FIP1L1 p.Pro270Leu Uncertain significance Single submitter
- FIP1L1 p.Pro358Leu Uncertain significance Single submitter
- FIP1L1 p.Pro435Arg Uncertain significance Single submitter
- FIP1L1 p.Ser112Asn Uncertain significance Single submitter
- FIP1L1 p.Ser262Pro Uncertain significance Single submitter
- FIP1L1 p.Ser587Arg Uncertain significance Single submitter
- FIP1L1 p.Thr184Ala Uncertain significance Single submitter
- FIP1L1 p.Thr184Asn Uncertain significance Single submitter
- FIP1L1 p.Thr266Ile Uncertain significance Single submitter
- FIP1L1 p.Thr347Ala Uncertain significance Single submitter
- FIP1L1 p.Thr367Ser Uncertain significance Single submitter
- FIP1L1 p.Thr383Ala Uncertain significance Single submitter
- FIP1L1 p.Val201Ile Uncertain significance Single submitter
- FIP1L1 p.Val48Ala Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- FIP1L1 p.Arg194Lys Uncertain significance Single submitter
- FIP1L1 p.Gly133Val Uncertain significance Single submitter
- FIP1L1 p.Gly19Arg Uncertain significance Single submitter
- FIP1L1 p.Pro151Leu Uncertain significance Single submitter
- FIP1L1 p.Ser262Cys Uncertain significance Single submitter
- FIP1L1 p.Ser87Asn Uncertain significance Single submitter
All FIP1L1 variants
Benign 1
- c.1285+11T>G Multiple submitters
Likely benign 8
- c.1500-8A>C Single submitter
- c.1638-4C>T Single submitter
- p.Gly16= Single submitter
- p.Leu9= Single submitter
- p.Pro270= Single submitter
- p.Ser500= Single submitter
- p.Arg471Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Arg545Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 41
- p.Ala577Val Multiple submitters ⚠
- p.Ala255Thr Single submitter ⚠
- p.Ala399Thr Single submitter ⚠
- p.Ala423Ser Single submitter ⚠
- p.Arg194Lys Single submitter ⚠
- p.Arg481Cys Single submitter ⚠
- p.Asn181Ile Single submitter ⚠
- p.Asn243Thr Single submitter
- p.Asn289Ser Single submitter ⚠
- p.Asn428Ser Single submitter ⚠
- p.Asp460Glu Single submitter ⚠
- p.Asp490Glu Single submitter ⚠
- p.Gln192Leu Single submitter ⚠
- p.Glu214Lys Single submitter
- p.Glu303Lys Single submitter ⚠
- p.Glu480Asp Single submitter ⚠
- p.Gly126fs Single submitter
- p.Gly133Val Single submitter ⚠
- p.Gly19Arg Single submitter ⚠
- p.Phe160Ser Single submitter ⚠
- p.Pro151Leu Single submitter ⚠
- p.Pro203Ala Single submitter ⚠
- p.Pro269Leu Single submitter ⚠
- p.Pro270Leu Single submitter ⚠
- p.Pro358Leu Single submitter ⚠
- p.Pro435Arg Single submitter ⚠
- p.Ser112Asn Single submitter ⚠
- p.Ser262Cys Single submitter ⚠
- p.Ser262Pro Single submitter ⚠
- p.Ser587Arg Single submitter ⚠
- p.Ser87Asn Single submitter ⚠
- p.Thr184Ala Single submitter ⚠
- p.Thr184Asn Single submitter ⚠
- p.Thr266Ile Single submitter ⚠
- p.Thr347Ala Single submitter ⚠
- p.Thr367Ser Single submitter ⚠
- p.Thr383Ala Single submitter ⚠
- p.Val150Phe Single submitter
- p.Val201Ile Single submitter ⚠
- p.Val48Ala Single submitter ⚠
- p.Val6Phe Single submitter