FGF14 — 209 ClinVar variants
All ClinVar germline FGF14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
9 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 4 Conflicting · 30 Benign · 13 Benign/Likely benign · 44 Likely benign · 101 Uncertain significance
Full FGF14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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FGF14 p.Ile47Val
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
FGF14 p.Ala90Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGF14 p.Arg207Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGF14 p.His86Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGF14 p.Leu173Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGF14 p.Pro219Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGF14 p.Pro24Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FGF14 p.Ala194Val Uncertain significance Single submitter
-
FGF14 p.Ala231Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- FGF14 p.Ala231Val Uncertain significance Single submitter
- FGF14 p.Ala26Ser Uncertain significance Single submitter
-
FGF14 p.Ala90Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FGF14 p.Arg11Leu Uncertain significance Single submitter
-
FGF14 p.Arg29Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGF14 p.Arg62Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGF14 p.Arg63His
Uncertain significance
Single submitter
Inborn genetic diseases
- FGF14 p.Arg78Lys Uncertain significance Single submitter
- FGF14 p.Asn43Ser Uncertain significance Single submitter
- FGF14 p.Asp22His Uncertain significance Single submitter
-
FGF14 p.Asp92Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- FGF14 p.Cys143Phe Uncertain significance Single submitter
- FGF14 p.Cys143Tyr Uncertain significance Single submitter
- FGF14 p.Gln19Arg Uncertain significance Single submitter
- FGF14 p.Gly118Arg Uncertain significance Single submitter
- FGF14 p.Gly174Arg Uncertain significance Single submitter
-
FGF14 p.Gly215Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- FGF14 p.Gly222Ala Uncertain significance Single submitter
-
FGF14 p.Gly222Arg
Uncertain significance
Single submitter
spinocerebellar ataxia type 27
-
FGF14 p.Ile156Val
Uncertain significance
Single submitter
Inborn genetic diseases
- FGF14 p.Ile234Thr Uncertain significance Single submitter
- FGF14 p.Leu123Phe Uncertain significance Single submitter
- FGF14 p.Leu161Trp Uncertain significance Single submitter
- FGF14 p.Leu56Arg Uncertain significance Single submitter
-
FGF14 p.Leu91Val
Uncertain significance
Single submitter
Inborn genetic diseases
- FGF14 p.Phe104Ser Uncertain significance Single submitter
- FGF14 p.Pro200Thr Uncertain significance Single submitter
- FGF14 p.Pro225Leu Uncertain significance Single submitter
-
FGF14 p.Ser228Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- FGF14 p.Ser34Asn Uncertain significance Single submitter
- FGF14 p.Thr224Met Uncertain significance Single submitter
- FGF14 p.Thr229Arg Uncertain significance Single submitter
-
FGF14 p.Thr99Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGF14 p.Val214Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGF14 p.Val218Phe
Uncertain significance
Single submitter
spinocerebellar ataxia type 27
-
FGF14 p.Gly179Arg
Uncertain significance
No assertion criteria
FGF14-related disorder
- FGF14 p.Met127Lys Uncertain significance No assertion criteria
Predictors split 9
The independent predictors disagree with each other — read with care.
-
FGF14 p.Gln117Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGF14 p.Pro87Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FGF14 p.Arg52Cys Uncertain significance Single submitter
- FGF14 p.Arg59Ser Uncertain significance Single submitter
- FGF14 p.Arg63Ser Uncertain significance Single submitter
-
FGF14 p.His86Tyr
Uncertain significance
Single submitter
spinocerebellar ataxia 27A
- FGF14 p.Pro87Thr Uncertain significance Single submitter
-
FGF14 p.Ser7Ile
Uncertain significance
Single submitter
spinocerebellar ataxia 27A
- FGF14 p.Val51Met Uncertain significance Single submitter
All FGF14 variants
Pathogenic 9
- c.208+239747CTT[250] Single submitter spinocerebellar ataxia 27B, late-onset
- c.305-2A>G Single submitter
- p.Glu147Ter Single submitter spinocerebellar ataxia 27A
- p.Gly118Val Single submitter spinocerebellar ataxia 27B, late-onset
- p.Trp171Ter Single submitter spinocerebellar ataxia 27A
- c.208+239747CTT[349] No assertion criteria cerebellar ataxia
- p.Ile71fs No assertion criteria spinocerebellar ataxia 27A
- p.Lys177Ter No assertion criteria spinocerebellar ataxia 27A
- p.Phe145Ser No assertion criteria spinocerebellar ataxia 27A
Pathogenic/Likely pathogenic 2
- p.Glu142fs Multiple submitters spinocerebellar ataxia 27A
- p.Thr190fs Multiple submitters
Likely pathogenic 6
- c.408+1G>A Multiple submitters FGF14-related disorder
- c.194-1G>C Single submitter spinocerebellar ataxia 27A
- c.409-1245_464del Single submitter Inborn genetic diseases
- p.Arg163fs Single submitter
- p.Phe54fs Single submitter spinocerebellar ataxia 27A
- p.Lys146fs No assertion criteria FGF14-related disorder
Conflicting classifications of pathogenicity 4
- c.*414T>C Single submitter spinocerebellar ataxia type 27
- p.Gln117= Single submitter
- p.Ile47Val Single submitter Inborn genetic diseases ⚠
- p.Pro66His Single submitter Inborn genetic diseases
Benign 30
- c.608-10C>T Multiple submitters spinocerebellar ataxia type 27
- c.*1612G>T Multiple submitters spinocerebellar ataxia type 27
- c.*1618T>A Multiple submitters spinocerebellar ataxia type 27
- p.Ile156= Multiple submitters spinocerebellar ataxia type 27
- c.193+102C>T Single submitter
- c.193+118C>T Single submitter
- c.193+243T>C Single submitter
- c.208+239867_208+239868del Single submitter
- c.208+260del Single submitter
- c.208+260dup Single submitter
- c.409-14T>C Single submitter
- c.608-321GT[11] Single submitter
- c.608-321GT[12] Single submitter
- c.-112C>T Single submitter
- c.-137C>A Single submitter
- c.-147C>G Single submitter
- c.-246G>C Single submitter
- c.-252T>G Single submitter
- c.-448dup Single submitter
- c.-449_-448dup Single submitter
- c.*1063G>A Single submitter spinocerebellar ataxia type 27
- c.*1220_*1223dup Single submitter
- c.*176C>G Single submitter spinocerebellar ataxia type 27
- c.*176dup Single submitter
- c.*471A>C Single submitter spinocerebellar ataxia type 27
- c.*554G>A Single submitter spinocerebellar ataxia type 27
- c.*567G>C Single submitter spinocerebellar ataxia type 27
- c.*744C>A Single submitter spinocerebellar ataxia type 27
- c.*919_*922dup Single submitter
- p.Ala26= Single submitter
Benign/Likely benign 13
- c.208+180763T>C Multiple submitters
- c.608-9del Multiple submitters
- c.*1259C>T Multiple submitters spinocerebellar ataxia type 27
- c.*31G>A Multiple submitters spinocerebellar ataxia type 27
- p.Ala193= Multiple submitters
- p.Ala231= Multiple submitters spinocerebellar ataxia type 27
- p.Asn41= Multiple submitters spinocerebellar ataxia type 27
- p.Gly42Cys Multiple submitters spinocerebellar ataxia 27A
- p.His212= Multiple submitters spinocerebellar ataxia type 27
- p.Ile125Val Multiple submitters
- p.Leu161= Multiple submitters spinocerebellar ataxia type 27
- p.Lys188= Multiple submitters
- p.Pro87= Multiple submitters spinocerebellar ataxia type 27
Likely benign 44
- c.408+40847T>C Multiple submitters
- p.Asn128= Multiple submitters spinocerebellar ataxia type 27
- p.Asp92= Multiple submitters Inborn genetic diseases
- p.Gly55= Multiple submitters
- p.Leu23= Multiple submitters
- p.Thr217Met Multiple submitters Inborn genetic diseases
- p.Val51= Multiple submitters
- c.193+146G>C Single submitter
- c.193+193C>T Single submitter
- c.193+20G>A Single submitter
- c.193+46C>T Single submitter
- c.194-18A>G Single submitter
- c.194-9G>A Single submitter
- c.208+180770dup Single submitter
- c.208+239793T>C Single submitter
- c.208+239895_208+239904del Single submitter
- c.208+239897_208+239906del Single submitter
- c.408+141dup Single submitter
- c.408+40799_408+40800del Single submitter
- c.408+40800del Single submitter
- c.408+40800dup Single submitter
- c.408+40804A>T Single submitter
- c.408+40840del Single submitter
- c.408+40859G>C Single submitter
- c.408+9G>T Single submitter
- c.409-4A>C Single submitter
- c.608-17T>A Single submitter
- c.*1118G>A Single submitter spinocerebellar ataxia type 27
- c.*1741T>C Single submitter spinocerebellar ataxia type 27
- p.Ala16= Single submitter
- p.Ala181= Single submitter
- p.Arg30Trp Single submitter
- p.Asn105= Single submitter
- p.Gln180= Single submitter
- p.Glu178= Single submitter
- p.Gly215= Single submitter
- p.Gly8= Single submitter
- p.Ile234Val Single submitter
- p.Phe54= Single submitter
- p.Pro24= Single submitter
- p.Ser230= Single submitter
- p.Ser7= Single submitter
- p.Thr224= Single submitter
- c.208+107491A>G No assertion criteria FGF14-related disorder
Uncertain significance 101
- c.304+3_304+6del Multiple submitters
- p.Ala90Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg186Ter Multiple submitters
- p.Arg207Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg59Gly Multiple submitters
- p.Gln117Arg Multiple submitters Inborn genetic diseases ⚠
- p.His86Asn Multiple submitters Inborn genetic diseases ⚠
- p.Leu173Trp Multiple submitters Inborn genetic diseases ⚠
- p.Pro219Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro24Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro87Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val114del Multiple submitters
- c.193+3C>T Single submitter spinocerebellar ataxia 27A
- c.208+180774G>A Single submitter spinocerebellar ataxia 27B, late-onset
- c.208+208435G>A Single submitter spinocerebellar ataxia 27A
- c.304+5G>A Single submitter
- c.608-3T>C Single submitter Inborn genetic diseases
- c.*1071C>T Single submitter spinocerebellar ataxia type 27
- c.*1072G>A Single submitter spinocerebellar ataxia type 27
- c.*1199A>G Single submitter spinocerebellar ataxia type 27
- c.*1251G>A Single submitter spinocerebellar ataxia type 27
- c.*1296A>C Single submitter spinocerebellar ataxia type 27
- c.*1761G>C Single submitter spinocerebellar ataxia type 27
- c.*1772C>A Single submitter spinocerebellar ataxia type 27
- c.*1918T>C Single submitter spinocerebellar ataxia type 27
- c.*1948C>T Single submitter spinocerebellar ataxia type 27
- c.*361C>T Single submitter spinocerebellar ataxia type 27
- c.*369A>G Single submitter spinocerebellar ataxia type 27
- c.*535G>T Single submitter spinocerebellar ataxia type 27
- c.*553C>T Single submitter spinocerebellar ataxia type 27
- c.*658T>G Single submitter spinocerebellar ataxia type 27
- c.*699T>C Single submitter spinocerebellar ataxia type 27
- c.*777C>A Single submitter spinocerebellar ataxia type 27
- c.*783C>G Single submitter spinocerebellar ataxia type 27
- c.*863G>C Single submitter spinocerebellar ataxia type 27
- c.*974G>A Single submitter spinocerebellar ataxia type 27
- c.*993C>T Single submitter spinocerebellar ataxia type 27
- p.Ala194Val Single submitter ⚠
- p.Ala231Gly Single submitter Inborn genetic diseases ⚠
- p.Ala231Val Single submitter ⚠
- p.Ala26Ser Single submitter ⚠
- p.Ala90Thr Single submitter Inborn genetic diseases ⚠
- p.Arg11Leu Single submitter ⚠
- p.Arg23Pro Single submitter
- p.Arg29Lys Single submitter Inborn genetic diseases ⚠
- p.Arg52Cys Single submitter ⚠
- p.Arg59Ser Single submitter ⚠
- p.Arg62Gln Single submitter Inborn genetic diseases ⚠
- p.Arg63His Single submitter Inborn genetic diseases ⚠
- p.Arg63Ser Single submitter ⚠
- p.Arg78Lys Single submitter ⚠
- p.Asn43Ser Single submitter ⚠
- p.Asp22His Single submitter ⚠
- p.Asp70Asn Single submitter
- p.Asp92Glu Single submitter Inborn genetic diseases ⚠
- p.Cys143Phe Single submitter ⚠
- p.Cys143Ter Single submitter spinocerebellar ataxia type 27
- p.Cys143Tyr Single submitter ⚠
- p.Gln19Arg Single submitter ⚠
- p.Gly118Arg Single submitter ⚠
- p.Gly122Arg Single submitter Inborn genetic diseases
- p.Gly174Arg Single submitter ⚠
- p.Gly184= Single submitter
- p.Gly215Arg Single submitter Inborn genetic diseases ⚠
- p.Gly222Ala Single submitter ⚠
- p.Gly222Arg Single submitter spinocerebellar ataxia type 27 ⚠
- p.Gly42= Single submitter
- p.Gly59= Single submitter
- p.His86Tyr Single submitter spinocerebellar ataxia 27A ⚠
- p.Ile156Val Single submitter Inborn genetic diseases ⚠
- p.Ile234Thr Single submitter ⚠
- p.Leu123Phe Single submitter ⚠
- p.Leu161Trp Single submitter ⚠
- p.Leu16Ile Single submitter
- p.Leu56Arg Single submitter ⚠
- p.Leu62fs Single submitter
- p.Leu91Val Single submitter Inborn genetic diseases ⚠
- p.Lys38Ile Single submitter Inborn genetic diseases
- p.Lys64fs Single submitter
- p.Met235Ile Single submitter
- p.Met53Thr Single submitter FGF14-related disorder
- p.Met85Ile Single submitter Inborn genetic diseases
- p.Phe104Ser Single submitter ⚠
- p.Pro200Thr Single submitter ⚠
- p.Pro225Leu Single submitter ⚠
- p.Pro87Thr Single submitter ⚠
- p.Ser159= Single submitter spinocerebellar ataxia type 27
- p.Ser228Ile Single submitter Inborn genetic diseases ⚠
- p.Ser34Asn Single submitter ⚠
- p.Ser48Cys Single submitter
- p.Ser7Ile Single submitter spinocerebellar ataxia 27A ⚠
- p.Thr217= Single submitter spinocerebellar ataxia type 27
- p.Thr224Met Single submitter ⚠
- p.Thr229Arg Single submitter ⚠
- p.Thr51Arg Single submitter
- p.Thr99Ser Single submitter Inborn genetic diseases ⚠
- p.Val214Ile Single submitter Inborn genetic diseases ⚠
- p.Val218Phe Single submitter spinocerebellar ataxia type 27 ⚠
- p.Val51Met Single submitter ⚠
- p.Gly179Arg No assertion criteria FGF14-related disorder ⚠
- p.Met127Lys No assertion criteria ⚠