FGFR4 — 127 ClinVar variants
All ClinVar germline FGFR4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
11 Benign · 1 Benign/Likely benign · 15 Likely benign · 100 Uncertain significance
Full FGFR4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
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 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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FGFR4 p.Pro716Leu
Uncertain significance
Multiple submitters
FGFR4-related disorder
- FGFR4 p.Ala175Thr Uncertain significance Single submitter
- FGFR4 p.Ala190Gly Uncertain significance Single submitter
- FGFR4 p.Ala190Thr Uncertain significance Single submitter
- FGFR4 p.Ala229Thr Uncertain significance Single submitter
- FGFR4 p.Ala253Gly Uncertain significance Single submitter
- FGFR4 p.Ala362Val Uncertain significance Single submitter
- FGFR4 p.Ala394Thr Uncertain significance Single submitter
- FGFR4 p.Ala404Asp Uncertain significance Single submitter
- FGFR4 p.Ala404Gly Uncertain significance Single submitter
- FGFR4 p.Ala593Thr Uncertain significance Single submitter
- FGFR4 p.Ala728Thr Uncertain significance Single submitter
- FGFR4 p.Arg154Cys Uncertain significance Single submitter
- FGFR4 p.Arg196Cys Uncertain significance Single submitter
- FGFR4 p.Arg244Trp Uncertain significance Single submitter
- FGFR4 p.Arg366Ser Uncertain significance Single submitter
- FGFR4 p.Arg398Trp Uncertain significance Single submitter
- FGFR4 p.Arg464Pro Uncertain significance Single submitter
- FGFR4 p.Arg483Cys Uncertain significance Single submitter
- FGFR4 p.Arg483His Uncertain significance Single submitter
- FGFR4 p.Arg54His Uncertain significance Single submitter
- FGFR4 p.Arg565Gln Uncertain significance Single submitter
- FGFR4 p.Arg59Gln Uncertain significance Single submitter
- FGFR4 p.Arg664Trp Uncertain significance Single submitter
- FGFR4 p.Arg703Gln Uncertain significance Single submitter
- FGFR4 p.Arg707Gln Uncertain significance Single submitter
- FGFR4 p.Arg78Cys Uncertain significance Single submitter
- FGFR4 p.Asp135Glu Uncertain significance Single submitter
- FGFR4 p.Asp457His Uncertain significance Single submitter
- FGFR4 p.Asp516Tyr Uncertain significance Single submitter
- FGFR4 p.Asp744Val Uncertain significance Single submitter
- FGFR4 p.Asp785Asn Uncertain significance Single submitter
- FGFR4 p.Gln111Glu Uncertain significance Single submitter
- FGFR4 p.Gln41Lys Uncertain significance Single submitter
- FGFR4 p.Glu752Gln Uncertain significance Single submitter
- FGFR4 p.Gly264Asp Uncertain significance Single submitter
- FGFR4 p.Gly649Val Uncertain significance Single submitter
- FGFR4 p.Gly720Arg Uncertain significance Single submitter
- FGFR4 p.Gly769Arg Uncertain significance Single submitter
- FGFR4 p.Gly790Arg Uncertain significance Single submitter
- FGFR4 p.Gly81Ser Uncertain significance Single submitter
- FGFR4 p.Gly84Ser Uncertain significance Single submitter
- FGFR4 p.His399Pro Uncertain significance Single submitter
- FGFR4 p.Ile640Phe Uncertain significance Single submitter
- FGFR4 p.Leu238Met Uncertain significance Single submitter
- FGFR4 p.Leu34Pro Uncertain significance Single submitter
- FGFR4 p.Leu449Val Uncertain significance Single submitter
- FGFR4 p.Lys408Gln Uncertain significance Single submitter
- FGFR4 p.Met211Thr Uncertain significance Single submitter
- FGFR4 p.Pro15Arg Uncertain significance Single submitter
- FGFR4 p.Pro216Leu Uncertain significance Single submitter
- FGFR4 p.Pro256Leu Uncertain significance Single submitter
- FGFR4 p.Pro32Ser Uncertain significance Single submitter
- FGFR4 p.Pro36Arg Uncertain significance Single submitter
- FGFR4 p.Pro574Leu Uncertain significance Single submitter
- FGFR4 p.Pro587Ala Uncertain significance Single submitter
- FGFR4 p.Pro766Arg Uncertain significance Single submitter
- FGFR4 p.Ser137Pro Uncertain significance Single submitter
- FGFR4 p.Ser430Pro Uncertain significance Single submitter
- FGFR4 p.Ser510Thr Uncertain significance Single submitter
- FGFR4 p.Ser700Leu Uncertain significance Single submitter
- FGFR4 p.Ser71Arg Uncertain significance Single submitter
- FGFR4 p.Ser780Tyr Uncertain significance Single submitter
- FGFR4 p.Ser783Gly Uncertain significance Single submitter
- FGFR4 p.Thr405Ala Uncertain significance Single submitter
- FGFR4 p.Thr802Pro Uncertain significance Single submitter
- FGFR4 p.Val267Met Uncertain significance Single submitter
- FGFR4 p.Val468Ala Uncertain significance Single submitter
- FGFR4 p.Val482Ala Uncertain significance Single submitter
- FGFR4 p.Val625Leu Uncertain significance Single submitter
- FGFR4 p.Val665Met Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- FGFR4 p.Ala486Val Uncertain significance Single submitter
- FGFR4 p.Ala593Ser Uncertain significance Single submitter
- FGFR4 p.Arg219His Uncertain significance Single submitter
- FGFR4 p.Arg234Cys Uncertain significance Single submitter
- FGFR4 p.Arg321Gln Uncertain significance Single submitter
- FGFR4 p.Arg411Cys Uncertain significance Single submitter
- FGFR4 p.Arg416Gln Uncertain significance Single submitter
- FGFR4 p.Arg437Cys Uncertain significance Single submitter
- FGFR4 p.Arg437Ser Uncertain significance Single submitter
- FGFR4 p.Arg493Trp Uncertain significance Single submitter
- FGFR4 p.Arg664Gln Uncertain significance Single submitter
- FGFR4 p.Arg85Cys Uncertain significance Single submitter
- FGFR4 p.Arg98Cys Uncertain significance Single submitter
- FGFR4 p.Asn290Asp Uncertain significance Single submitter
- FGFR4 p.Asn624Thr Uncertain significance Single submitter
- FGFR4 p.Asp571Val Uncertain significance Single submitter
- FGFR4 p.Glu717Lys Uncertain significance Single submitter
- FGFR4 p.Glu87Val Uncertain significance Single submitter
- FGFR4 p.Gly636Ser Uncertain significance Single submitter
- FGFR4 p.His638Arg Uncertain significance Single submitter
- FGFR4 p.Phe462Ile Uncertain significance Single submitter
- FGFR4 p.Pro568Ala Uncertain significance Single submitter
- FGFR4 p.Ser585Phe Uncertain significance Single submitter
- FGFR4 p.Val502Ile Uncertain significance Single submitter
All FGFR4 variants
Benign 11
- p.Gly388Arg Multiple submitters
- c.1944+6G>A Single submitter
- p.Asn228= Single submitter
- p.Ser137= Single submitter
- p.Ser591Phe Single submitter
- p.Val10Ile Single submitter
- c.1821+4C>T No assertion criteria FGFR4-related disorder
- c.2016-8A>G No assertion criteria FGFR4-related disorder
- p.Arg234= No assertion criteria FGFR4-related disorder
- p.Arg54= No assertion criteria FGFR4-related disorder
- p.Thr179Ala No assertion criteria FGFR4-related disorder
Benign/Likely benign 1
- p.Leu334= Multiple submitters
Likely benign 15
- c.1397+7T>G Single submitter
- c.1944+7G>A Single submitter
- p.Ala374Val Single submitter
- p.Arg466= Single submitter
- p.Arg578Gln Single submitter
- p.Leu718= Single submitter
- p.Pro136Leu Single submitter classic Hodgkin lymphoma
- p.Thr117Ile Single submitter
- p.Val468= Single submitter
- p.Ala404Pro No assertion criteria FGFR4-related disorder
- p.Asp297= No assertion criteria FGFR4-related disorder
- p.His706= No assertion criteria FGFR4-related disorder
- p.Pro246= No assertion criteria FGFR4-related disorder
- p.Pro402= No assertion criteria FGFR4-related disorder
- p.Thr405= No assertion criteria FGFR4-related disorder
Uncertain significance 100
- p.Pro716Leu Multiple submitters FGFR4-related disorder ⚠
- p.Ala175Thr Single submitter ⚠
- p.Ala190Gly Single submitter ⚠
- p.Ala190Thr Single submitter ⚠
- p.Ala229Thr Single submitter ⚠
- p.Ala253Gly Single submitter ⚠
- p.Ala362Val Single submitter ⚠
- p.Ala394Thr Single submitter ⚠
- p.Ala404Asp Single submitter ⚠
- p.Ala404Gly Single submitter ⚠
- p.Ala486Val Single submitter ⚠
- p.Ala593Ser Single submitter ⚠
- p.Ala593Thr Single submitter ⚠
- p.Ala728Thr Single submitter ⚠
- p.Arg154Cys Single submitter ⚠
- p.Arg196Cys Single submitter ⚠
- p.Arg219Cys Single submitter
- p.Arg219His Single submitter ⚠
- p.Arg234Cys Single submitter ⚠
- p.Arg244Trp Single submitter ⚠
- p.Arg321Gln Single submitter ⚠
- p.Arg366Ser Single submitter ⚠
- p.Arg398Trp Single submitter ⚠
- p.Arg411Cys Single submitter ⚠
- p.Arg416Gln Single submitter ⚠
- p.Arg437Cys Single submitter ⚠
- p.Arg437Ser Single submitter ⚠
- p.Arg464Pro Single submitter ⚠
- p.Arg483Cys Single submitter ⚠
- p.Arg483His Single submitter ⚠
- p.Arg493Trp Single submitter ⚠
- p.Arg54His Single submitter ⚠
- p.Arg565Gln Single submitter ⚠
- p.Arg59Gln Single submitter ⚠
- p.Arg664Gln Single submitter ⚠
- p.Arg664Trp Single submitter ⚠
- p.Arg703Gln Single submitter ⚠
- p.Arg707Gln Single submitter ⚠
- p.Arg78Cys Single submitter ⚠
- p.Arg85Cys Single submitter ⚠
- p.Arg98Cys Single submitter ⚠
- p.Asn290Asp Single submitter ⚠
- p.Asn624Thr Single submitter ⚠
- p.Asp135Glu Single submitter ⚠
- p.Asp457His Single submitter ⚠
- p.Asp516Tyr Single submitter ⚠
- p.Asp571Val Single submitter ⚠
- p.Asp744Val Single submitter ⚠
- p.Asp785Asn Single submitter ⚠
- p.Gln111Glu Single submitter ⚠
- p.Gln41Lys Single submitter ⚠
- p.Glu717Lys Single submitter ⚠
- p.Glu752Gln Single submitter ⚠
- p.Glu87Val Single submitter ⚠
- p.Gly188Ala Single submitter
- p.Gly264Asp Single submitter ⚠
- p.Gly636Ser Single submitter ⚠
- p.Gly649Val Single submitter ⚠
- p.Gly720Arg Single submitter ⚠
- p.Gly769Arg Single submitter ⚠
- p.Gly790Arg Single submitter ⚠
- p.Gly81Ser Single submitter ⚠
- p.Gly84Ser Single submitter ⚠
- p.His399Pro Single submitter ⚠
- p.His638Arg Single submitter ⚠
- p.Ile640Phe Single submitter ⚠
- p.Leu238Met Single submitter ⚠
- p.Leu34Pro Single submitter ⚠
- p.Leu449Val Single submitter ⚠
- p.Leu757Phe Single submitter
- p.Lys408Gln Single submitter ⚠
- p.Met211Thr Single submitter ⚠
- p.Phe462Ile Single submitter ⚠
- p.Pro15Arg Single submitter ⚠
- p.Pro216Leu Single submitter ⚠
- p.Pro246Ala Single submitter
- p.Pro256Leu Single submitter ⚠
- p.Pro32Ser Single submitter ⚠
- p.Pro36Arg Single submitter ⚠
- p.Pro568Ala Single submitter ⚠
- p.Pro574Leu Single submitter ⚠
- p.Pro587Ala Single submitter ⚠
- p.Pro766Arg Single submitter ⚠
- p.Ser137Pro Single submitter ⚠
- p.Ser430Pro Single submitter ⚠
- p.Ser510Thr Single submitter ⚠
- p.Ser585Phe Single submitter ⚠
- p.Ser700Leu Single submitter ⚠
- p.Ser71Arg Single submitter ⚠
- p.Ser780Tyr Single submitter ⚠
- p.Ser783Gly Single submitter ⚠
- p.Thr405Ala Single submitter ⚠
- p.Thr802Pro Single submitter ⚠
- p.Val267Met Single submitter ⚠
- p.Val468Ala Single submitter ⚠
- p.Val482Ala Single submitter ⚠
- p.Val502Ile Single submitter ⚠
- p.Val625Leu Single submitter ⚠
- p.Val665Met Single submitter ⚠
- p.Leu562= No assertion criteria