FGF20 — 130 ClinVar variants
All ClinVar germline FGF20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 16 Benign · 1 Benign/Likely benign · 27 Likely benign · 84 Uncertain significance
Full FGF20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FGF20 p.Ala179Ser Uncertain significance Multiple submitters
- FGF20 p.Ala55Thr Uncertain significance Multiple submitters
- FGF20 p.Arg41Gly Uncertain significance Multiple submitters
- FGF20 p.Gln20Leu Uncertain significance Multiple submitters
- FGF20 p.Glu45Gly Uncertain significance Multiple submitters
- FGF20 p.Gly16Cys Uncertain significance Multiple submitters
- FGF20 p.Gly50Ser Uncertain significance Multiple submitters
- FGF20 p.Gly51Glu Uncertain significance Multiple submitters
- FGF20 p.Lys182Asn Uncertain significance Multiple submitters
- FGF20 p.Ser84Asn Uncertain significance Multiple submitters
- FGF20 p.Ala179Thr Uncertain significance Single submitter
- FGF20 p.Ala30Thr Uncertain significance Single submitter
- FGF20 p.Ala30Val Uncertain significance Single submitter
- FGF20 p.Ala48Ser Uncertain significance Single submitter
- FGF20 p.Ala48Val Uncertain significance Single submitter
- FGF20 p.Ala54Val Uncertain significance Single submitter
- FGF20 p.Ala58Glu Uncertain significance Single submitter
- FGF20 p.Ala58Val Uncertain significance Single submitter
- FGF20 p.Arg163Cys Uncertain significance Single submitter
- FGF20 p.Arg33Trp Uncertain significance Single submitter
- FGF20 p.Arg41Ser Uncertain significance Single submitter
- FGF20 p.Arg46Gln Uncertain significance Single submitter
- FGF20 p.Arg66Cys Uncertain significance Single submitter
- FGF20 p.Arg67Pro Uncertain significance Single submitter
- FGF20 p.Arg89Trp Uncertain significance Single submitter
- FGF20 p.Asn149Lys Uncertain significance Single submitter
- FGF20 p.Asp172His Uncertain significance Single submitter
- FGF20 p.Asp206Tyr Uncertain significance Single submitter
- FGF20 p.Cys71Gly Uncertain significance Single submitter
- FGF20 p.Glu131Asp Uncertain significance Single submitter
- FGF20 p.Glu32Lys Uncertain significance Single submitter
- FGF20 p.Glu45Lys Uncertain significance Single submitter
- FGF20 p.Gly129Val Uncertain significance Single submitter
- FGF20 p.Gly13Asp Uncertain significance Single submitter
- FGF20 p.Gly38Arg Uncertain significance Single submitter
- FGF20 p.Gly51Arg Uncertain significance Single submitter
- FGF20 p.Gly51Val Uncertain significance Single submitter
- FGF20 p.Gly53Glu Uncertain significance Single submitter
- FGF20 p.Gly83Arg Uncertain significance Single submitter
- FGF20 p.Gly8Ala Uncertain significance Single submitter
- FGF20 p.Gly9Ser Uncertain significance Single submitter
- FGF20 p.Ile138Val Uncertain significance Single submitter
- FGF20 p.Ile155Arg Uncertain significance Single submitter
- FGF20 p.Ile155Thr Uncertain significance Single submitter
- FGF20 p.Leu208Pro Uncertain significance Single submitter
- FGF20 p.Lys171Arg Uncertain significance Single submitter
- FGF20 p.Pro192Ala Uncertain significance Single submitter
- FGF20 p.Pro35Gln Uncertain significance Single submitter
- FGF20 p.Pro52Ala Uncertain significance Single submitter
- FGF20 p.Pro52Gln Uncertain significance Single submitter
- FGF20 p.Ser181Phe Uncertain significance Single submitter
- FGF20 p.Ser23Ala Uncertain significance Single submitter
- FGF20 p.Ser47Asn Uncertain significance Single submitter
- FGF20 p.Thr211Pro Uncertain significance Single submitter
- FGF20 p.Tyr210His Uncertain significance Single submitter
- FGF20 p.Val105Ala Uncertain significance Single submitter
- FGF20 p.Val195Leu Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- FGF20 p.Leu133Val Uncertain significance Multiple submitters
- FGF20 p.Lys157Glu Uncertain significance Multiple submitters
- FGF20 p.Arg164Trp Uncertain significance Single submitter
- FGF20 p.Arg183Gly Uncertain significance Single submitter
- FGF20 p.Arg183Ser Uncertain significance Single submitter
- FGF20 p.Arg89Gln Uncertain significance Single submitter
- FGF20 p.Asp114His Uncertain significance Single submitter
- FGF20 p.Gly51Trp Uncertain significance Single submitter
- FGF20 p.Gly62Arg Uncertain significance Single submitter
- FGF20 p.Ile110Val Uncertain significance Single submitter
- FGF20 p.Ile138Met Uncertain significance Single submitter
- FGF20 p.Ile79Val Likely benign Single submitter
- FGF20 p.Leu107Gln Uncertain significance Single submitter
-
FGF20 p.Asp82Asn
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
All FGF20 variants
Pathogenic 1
- p.Val113fs No assertion criteria renal hypodysplasia/aplasia 2
Likely pathogenic 1
- c.391-1G>A Single submitter renal hypodysplasia/aplasia 2
Benign 16
- c.391-52A>C Multiple submitters
- c.*165T>C Multiple submitters
- c.*182C>T Multiple submitters late-onset Parkinson disease
- c.*83G>C Multiple submitters
- p.Ala48= Multiple submitters renal hypodysplasia/aplasia 2
- p.Asp206Asn Multiple submitters
- p.Gly116Arg Multiple submitters
- c.391-111C>A Single submitter
- c.391-215G>A Single submitter
- c.391-228G>C Single submitter
- c.391-251del Single submitter
- c.391-275G>C Single submitter
- c.391-297G>A Single submitter
- c.391-309G>A Single submitter
- p.Phe25= Single submitter
- p.Pro175Ala Single submitter
Benign/Likely benign 1
- p.Pro34= Multiple submitters
Likely benign 27
- c.286+20C>T Single submitter
- c.287-9C>T Single submitter
- c.390+18T>A Single submitter
- c.391-14C>G Single submitter
- c.391-19G>C Single submitter
- c.391-7C>T Single submitter
- p.Ala168= Single submitter
- p.Ala55= Single submitter
- p.Arg193= Single submitter
- p.Arg33= Single submitter
- p.Gln20= Single submitter
- p.Ile79Val Single submitter ⚠
- p.Leu119= Single submitter
- p.Leu26= Single submitter
- p.Leu60= Single submitter
- p.Ser181= Single submitter
- p.Thr150= Single submitter
- p.Tyr210= Single submitter
- p.Arg65= No assertion criteria FGF20-related disorder
- p.Arg89= No assertion criteria FGF20-related disorder
- p.Asp82Asn No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
- p.Gln78Glu No assertion criteria FGF20-related disorder
- p.Gly178= No assertion criteria FGF20-related disorder
- p.Gly62= No assertion criteria FGF20-related disorder
- p.Gly87= No assertion criteria FGF20-related disorder
- p.Leu80= No assertion criteria FGF20-related disorder
- p.Tyr70= No assertion criteria FGF20-related disorder
Uncertain significance 84
- p.Ala179Ser Multiple submitters ⚠
- p.Ala55Thr Multiple submitters ⚠
- p.Arg41Gly Multiple submitters ⚠
- p.Gln20Leu Multiple submitters ⚠
- p.Glu45Gly Multiple submitters ⚠
- p.Gly16Cys Multiple submitters ⚠
- p.Gly50Ser Multiple submitters ⚠
- p.Gly51Glu Multiple submitters ⚠
- p.Leu133Val Multiple submitters ⚠
- p.Lys157Glu Multiple submitters ⚠
- p.Lys182Asn Multiple submitters ⚠
- p.Ser84Asn Multiple submitters ⚠
- p.Tyr156His Multiple submitters
- c.286+4C>T Single submitter
- p.Ala179Thr Single submitter ⚠
- p.Ala30Thr Single submitter ⚠
- p.Ala30Val Single submitter ⚠
- p.Ala43Lys Single submitter
- p.Ala48Ser Single submitter ⚠
- p.Ala48Val Single submitter ⚠
- p.Ala54Val Single submitter ⚠
- p.Ala58Glu Single submitter ⚠
- p.Ala58Val Single submitter ⚠
- p.Arg163Cys Single submitter ⚠
- p.Arg164Trp Single submitter ⚠
- p.Arg183Gly Single submitter ⚠
- p.Arg183Ser Single submitter ⚠
- p.Arg33Trp Single submitter ⚠
- p.Arg41Ser Single submitter ⚠
- p.Arg46Gln Single submitter ⚠
- p.Arg49Ser Single submitter
- p.Arg66Cys Single submitter ⚠
- p.Arg67Pro Single submitter ⚠
- p.Arg89Gln Single submitter ⚠
- p.Arg89Trp Single submitter ⚠
- p.Asn149Lys Single submitter ⚠
- p.Asp114His Single submitter ⚠
- p.Asp172His Single submitter ⚠
- p.Asp206Tyr Single submitter ⚠
- p.Cys71Gly Single submitter ⚠
- p.Gln19fs Single submitter
- p.Glu131Asp Single submitter ⚠
- p.Glu145Ter Single submitter
- p.Glu15_Leu17del Single submitter
- p.Glu32Lys Single submitter ⚠
- p.Glu45Lys Single submitter ⚠
- p.Gly129Val Single submitter ⚠
- p.Gly13Asp Single submitter ⚠
- p.Gly38Arg Single submitter ⚠
- p.Gly51Arg Single submitter ⚠
- p.Gly51Trp Single submitter ⚠
- p.Gly51Val Single submitter ⚠
- p.Gly53Glu Single submitter ⚠
- p.Gly62Arg Single submitter ⚠
- p.Gly83Arg Single submitter ⚠
- p.Gly8Ala Single submitter ⚠
- p.Gly8Arg Single submitter
- p.Gly9Ser Single submitter ⚠
- p.His59Asp Single submitter
- p.His59Gln Single submitter
- p.Ile110Val Single submitter ⚠
- p.Ile138Met Single submitter ⚠
- p.Ile138Val Single submitter ⚠
- p.Ile155Arg Single submitter ⚠
- p.Ile155Thr Single submitter ⚠
- p.Leu107Gln Single submitter ⚠
- p.Leu208Pro Single submitter ⚠
- p.Leu94= Single submitter
- p.Lys171Arg Single submitter ⚠
- p.Pro192Ala Single submitter ⚠
- p.Pro35Gln Single submitter ⚠
- p.Pro52Ala Single submitter ⚠
- p.Pro52Gln Single submitter ⚠
- p.Ser115_Leu117del Single submitter
- p.Ser181Phe Single submitter ⚠
- p.Ser23Ala Single submitter ⚠
- p.Ser47Asn Single submitter ⚠
- p.Ser93Gly Single submitter
- p.Thr211Pro Single submitter ⚠
- p.Tyr204His Single submitter
- p.Tyr210His Single submitter ⚠
- p.Val105Ala Single submitter ⚠
- p.Val195Leu Single submitter ⚠
- p.Pro34Thr No assertion criteria