FGF13 — 66 ClinVar variants
All ClinVar germline FGF13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
4 Pathogenic · 2 Likely pathogenic · 2 Conflicting · 1 Benign · 9 Likely benign · 48 Uncertain significance
Full FGF13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FGF13 p.Val232Met Uncertain significance Multiple submitters
-
FGF13 p.Arg11His
Uncertain significance
Single submitter
neurodevelopmental disorder
- FGF13 p.Arg161Cys Uncertain significance Single submitter
-
FGF13 p.Arg161His
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 90
- FGF13 p.Arg76Gln Uncertain significance Single submitter
- FGF13 p.Asn242His Uncertain significance Single submitter
- FGF13 p.Cys27Arg Uncertain significance Single submitter
-
FGF13 p.Glu140Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- FGF13 p.Glu63Asp Uncertain significance Single submitter
- FGF13 p.Gly129Arg Uncertain significance Single submitter
- FGF13 p.Gly34Ala Uncertain significance Single submitter
-
FGF13 p.Leu123Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGF13 p.Leu43Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 90
- FGF13 p.Leu51Val Uncertain significance Single submitter
-
FGF13 p.Lys197Glu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 90
-
FGF13 p.Met239Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGF13 p.Pro198Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- FGF13 p.Pro62Leu Uncertain significance Single submitter
- FGF13 p.Ser240Asn Uncertain significance Single submitter
- FGF13 p.Thr98Ile Uncertain significance Single submitter
- FGF13 p.Tyr160His Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
-
FGF13 p.Ser97Gly
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 90
- FGF13 p.Ala2Glu Uncertain significance Single submitter
- FGF13 p.Ala6Val Uncertain significance Single submitter
- FGF13 p.Ala85Val Uncertain significance Single submitter
- FGF13 p.Arg19Leu Uncertain significance Single submitter
-
FGF13 p.Asp86Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGF13 p.Ile5Ser
Likely pathogenic
Single submitter
developmental and epileptic encephalopathy, 90
-
FGF13 p.Lys197Gln
Conflicting
Single submitter
Inborn genetic diseases
- FGF13 p.Ser8Leu Uncertain significance Single submitter
All FGF13 variants
Pathogenic 4
- p.Arg11Cys Multiple submitters developmental and epileptic encephalopathy, 90
- p.Arg14Thr Single submitter developmental and epileptic encephalopathy, 90
- p.Ser8Ter Single submitter developmental and epileptic encephalopathy, 90
- p.Arg11Pro No assertion criteria developmental and epileptic encephalopathy, 90
Likely pathogenic 2
Conflicting classifications of pathogenicity 2
- p.Lys197Gln Single submitter Inborn genetic diseases ⚠
- c.-32C>G No assertion criteria intellectual developmental disorder, X-linked 110
Benign 1
- p.Gly231= Multiple submitters
Likely benign 9
- c.402+6C>G Single submitter
- c.50-148574C>T Single submitter
- c.-157C>G Single submitter
- p.Arg48= Single submitter
- p.Asn234= Single submitter
- p.Gly53= Single submitter
- p.Ser230Pro Single submitter
- p.Tyr8Cys Single submitter
- p.Lys93= No assertion criteria FGF13-related disorder
Uncertain significance 48
- p.Glu176Gly Multiple submitters Inborn genetic diseases
- p.Ser97Gly Multiple submitters developmental and epileptic encephalopathy, 90 ⚠
- p.Val232Met Multiple submitters ⚠
- c.403-1G>A Single submitter developmental and epileptic encephalopathy, 90
- c.50-148602G>A Single submitter
- c.50-148605A>G Single submitter
- c.50-148634_50-148632del Single submitter
- c.50-148652C>A Single submitter
- c.50-148698T>A Single submitter
- c.50-148706G>A Single submitter
- c.50-148733dup Single submitter
- c.50-148734_50-148730delinsGCTGA Single submitter
- c.-146508G>A Single submitter
- c.*3431T>C Single submitter
- c.*9200C>T Single submitter
- p.Ala2Glu Single submitter ⚠
- p.Ala39Val Single submitter intellectual developmental disorder, X-linked 110
- p.Ala6Val Single submitter ⚠
- p.Ala85Val Single submitter ⚠
- p.Arg11His Single submitter neurodevelopmental disorder ⚠
- p.Arg161Cys Single submitter ⚠
- p.Arg161His Single submitter developmental and epileptic encephalopathy, 90 ⚠
- p.Arg19Leu Single submitter ⚠
- p.Arg3Ter Single submitter developmental and epileptic encephalopathy, 90
- p.Arg61del Single submitter
- p.Arg76Gln Single submitter ⚠
- p.Asn242His Single submitter ⚠
- p.Asp86Asn Single submitter Inborn genetic diseases ⚠
- p.Cys27Arg Single submitter ⚠
- p.Glu140Gln Single submitter Inborn genetic diseases ⚠
- p.Glu63Asp Single submitter ⚠
- p.Gly129Arg Single submitter ⚠
- p.Gly34Ala Single submitter ⚠
- p.Leu123Phe Single submitter Inborn genetic diseases ⚠
- p.Leu43Val Single submitter developmental and epileptic encephalopathy, 90 ⚠
- p.Leu51Val Single submitter ⚠
- p.Lys197Glu Single submitter developmental and epileptic encephalopathy, 90 ⚠
- p.Lys50fs Single submitter
- p.Met239Thr Single submitter Inborn genetic diseases ⚠
- p.Pro198Ser Single submitter Inborn genetic diseases ⚠
- p.Pro62Leu Single submitter ⚠
- p.Pro71Gln Single submitter developmental and epileptic encephalopathy, 90
- p.Ser240Arg Single submitter
- p.Ser240Asn Single submitter ⚠
- p.Ser46Phe Single submitter developmental and epileptic encephalopathy, 90
- p.Ser8Leu Single submitter ⚠
- p.Thr98Ile Single submitter ⚠
- p.Tyr160His Single submitter ⚠