GFAP — 552 ClinVar variants
All ClinVar germline GFAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 240 flagged for review →
47 Pathogenic · 2 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 35 Conflicting · 37 Benign · 18 Benign/Likely benign · 123 Likely benign · 263 Uncertain significance
Full GFAP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 240
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 vs ClinVar 8
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
GFAP p.Arg258Cys
Pathogenic
Multiple submitters
GFAP-related disorder
-
GFAP p.Asn386Ser
Pathogenic
Multiple submitters
GFAP-related disorder
-
GFAP p.Asp128Asn
Pathogenic/Likely pathogenic
Multiple submitters
Alexander disease
-
GFAP p.Ser385Cys
Pathogenic/Likely pathogenic
Multiple submitters
Alexander disease
-
GFAP p.Ala364Thr
Likely pathogenic
Single submitter
GFAP-related disorder
-
GFAP p.Gly18Val
Pathogenic
Single submitter
GFAP-related disorder
-
GFAP p.Glu332Lys
Pathogenic
No assertion criteria
Alexander disease
-
GFAP p.Ser398Phe
Pathogenic
No assertion criteria
Alexander disease
Predictors agree, ClinVar conflicts 23
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- GFAP p.Ala132Thr Conflicting Single submitter
-
GFAP p.Ala26Val
Conflicting
Single submitter
Inborn genetic diseases
-
GFAP p.Ala96Val
Conflicting
Single submitter
Alexander disease
-
GFAP p.Arg121Gln
Conflicting
Single submitter
Alexander disease
-
GFAP p.Arg124Trp
Conflicting
Single submitter
Alexander disease
-
GFAP p.Arg12Cys
Conflicting
Single submitter
Inborn genetic diseases
-
GFAP p.Arg198Gln
Conflicting
Single submitter
hereditary spastic paraplegia
-
GFAP p.Arg217Gln
Conflicting
Single submitter
Alexander disease
-
GFAP p.Arg29His
Conflicting
Single submitter
Inborn genetic diseases
-
GFAP p.Arg376Gln
Conflicting
Single submitter
Alexander disease
-
GFAP p.Arg66Gln
Conflicting
Single submitter
Alexander disease
-
GFAP p.Arg66Trp
Conflicting
Single submitter
GFAP-related disorder
- GFAP p.Asn283Ser Conflicting Single submitter
-
GFAP p.Asn77Asp
Conflicting
Single submitter
GFAP-related disorder
- GFAP p.Glu207Val Conflicting Single submitter
-
GFAP p.Glu371Lys
Conflicting
Single submitter
Alexander disease
-
GFAP p.Ile84Met
Conflicting
Single submitter
Alexander disease
-
GFAP p.Leu370Pro
Conflicting
Single submitter
Progressive ventriculomegaly
- GFAP p.Met245Thr Conflicting Single submitter
-
GFAP p.Ser298Phe
Conflicting
Single submitter
Inborn genetic diseases
-
GFAP p.Thr110Ser
Conflicting
Single submitter
Alexander disease
-
GFAP p.Val226Met
Conflicting
Single submitter
Inborn genetic diseases
- GFAP p.Val87Phe Conflicting Single submitter
Predictors lean, ClinVar uncertain 151
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 151
-
GFAP p.Ala233Thr
Uncertain significance
Multiple submitters
Alexander disease
- GFAP p.Ala269Ser Uncertain significance Multiple submitters
-
GFAP p.Arg12Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFAP p.Arg29Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GFAP p.Arg30Cys Uncertain significance Multiple submitters
- GFAP p.Arg36His Uncertain significance Multiple submitters
-
GFAP p.Arg5Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFAP p.Asp266Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GFAP p.Gln290Pro Uncertain significance Multiple submitters
- GFAP p.Gln350Arg Uncertain significance Multiple submitters
-
GFAP p.Glu254Lys
Uncertain significance
Multiple submitters
Alexander disease
-
GFAP p.Glu273Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFAP p.Glu312Lys
Uncertain significance
Multiple submitters
Alexander disease
-
GFAP p.Glu419Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GFAP p.Glu85Lys Uncertain significance Multiple submitters
- GFAP p.Gly301Arg Uncertain significance Multiple submitters
-
GFAP p.His251Arg
Uncertain significance
Multiple submitters
Alexander disease
- GFAP p.Ile197Asn Uncertain significance Multiple submitters
-
GFAP p.Ile203Val
Uncertain significance
Multiple submitters
Alexander disease
-
GFAP p.Ile421Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFAP p.Leu163Pro
Uncertain significance
Multiple submitters
Alexander disease
-
GFAP p.Leu200Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GFAP p.Leu306Pro Uncertain significance Multiple submitters
- GFAP p.Met342Thr Uncertain significance Multiple submitters
- GFAP p.Thr232Pro Uncertain significance Multiple submitters
-
GFAP p.Thr265Ala
Uncertain significance
Multiple submitters
Alexander disease
-
GFAP p.Val409Met
Uncertain significance
Multiple submitters
Alexander disease
- GFAP p.Ala118Pro Uncertain significance Single submitter
- GFAP p.Ala135Thr Uncertain significance Single submitter
- GFAP p.Ala149Asp Uncertain significance Single submitter
- GFAP p.Ala171Val Uncertain significance Single submitter
- GFAP p.Ala176Val Uncertain significance Single submitter
- GFAP p.Ala182Asp Uncertain significance Single submitter
- GFAP p.Ala182Val Uncertain significance Single submitter
-
GFAP p.Ala216Thr
Uncertain significance
Single submitter
Alexander disease
-
GFAP p.Ala234Asp
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Ala234Thr Uncertain significance Single submitter
-
GFAP p.Ala253Thr
Uncertain significance
Single submitter
Alexander disease
-
GFAP p.Ala267Ser
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Ala321Val Uncertain significance Single submitter
-
GFAP p.Ala327Val
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Ala57Thr Uncertain significance Single submitter
- GFAP p.Ala60Thr Uncertain significance Single submitter
- GFAP p.Ala67Gly Uncertain significance Single submitter
- GFAP p.Ala96Pro Uncertain significance Single submitter
-
GFAP p.Arg11Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- GFAP p.Arg11His Uncertain significance Single submitter
- GFAP p.Arg11Pro Uncertain significance Single submitter
- GFAP p.Arg126Gln Uncertain significance Single submitter
-
GFAP p.Arg126Pro
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Arg12His Uncertain significance Single submitter
- GFAP p.Arg141Ser Uncertain significance Single submitter
-
GFAP p.Arg162Ser
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Arg183Leu Uncertain significance Single submitter
- GFAP p.Arg209Gln Uncertain significance Single submitter
-
GFAP p.Arg239Gly
Uncertain significance
Single submitter
Alexander disease
-
GFAP p.Arg300Ser
Uncertain significance
Single submitter
Alexander disease
-
GFAP p.Arg330Pro
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Arg406Gly Uncertain significance Single submitter
- GFAP p.Arg49Gln Uncertain significance Single submitter
- GFAP p.Arg4Gly Uncertain significance Single submitter
- GFAP p.Arg5His Uncertain significance Single submitter
- GFAP p.Arg79Ser Uncertain significance Single submitter
- GFAP p.Asn143Ser Uncertain significance Single submitter
- GFAP p.Asn249Lys Uncertain significance Single submitter
-
GFAP p.Asn271Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- GFAP p.Asn386His Uncertain significance Single submitter
- GFAP p.Asn407Ser Uncertain significance Single submitter
-
GFAP p.Asn407Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GFAP p.Asp142His Uncertain significance Single submitter
-
GFAP p.Asp177Gly
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Asp360Gly Uncertain significance Single submitter
- GFAP p.Gln146Arg Uncertain significance Single submitter
- GFAP p.Gln325Pro Uncertain significance Single submitter
- GFAP p.Gln382Glu Uncertain significance Single submitter
- GFAP p.Glu100Asp Uncertain significance Single submitter
- GFAP p.Glu108Gly Uncertain significance Single submitter
- GFAP p.Glu166Asp Uncertain significance Single submitter
- GFAP p.Glu175Gly Uncertain significance Single submitter
-
GFAP p.Glu195Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GFAP p.Glu196Gln Uncertain significance Single submitter
-
GFAP p.Glu213Asp
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Glu223Val Uncertain significance Single submitter
- GFAP p.Glu255Asp Uncertain significance Single submitter
- GFAP p.Glu281Lys Uncertain significance Single submitter
- GFAP p.Glu297Lys Uncertain significance Single submitter
- GFAP p.Glu304Lys Uncertain significance Single submitter
- GFAP p.Glu326Ala Uncertain significance Single submitter
- GFAP p.Glu401Asp Uncertain significance Single submitter
- GFAP p.Glu64Asp Uncertain significance Single submitter
-
GFAP p.Glu75Lys
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Gly23Ala Uncertain significance Single submitter
- GFAP p.Gly24Ser Uncertain significance Single submitter
- GFAP p.Gly301Asp Uncertain significance Single submitter
- GFAP p.Gly335Val Uncertain significance Single submitter
- GFAP p.Gly372Asp Uncertain significance Single submitter
- GFAP p.Gly402Ser Uncertain significance Single submitter
- GFAP p.Gly418Arg Uncertain significance Single submitter
- GFAP p.His280Gln Uncertain significance Single submitter
- GFAP p.Ile363Met Uncertain significance Single submitter
- GFAP p.Ile363Phe Uncertain significance Single submitter
-
GFAP p.Ile379Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFAP p.Leu101Pro
Uncertain significance
Single submitter
GFAP-related disorder
- GFAP p.Leu120Pro Uncertain significance Single submitter
- GFAP p.Leu161Pro Uncertain significance Single submitter
-
GFAP p.Leu215Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GFAP p.Leu224Pro Uncertain significance Single submitter
- GFAP p.Leu275Arg Uncertain significance Single submitter
- GFAP p.Leu328Pro Uncertain significance Single submitter
- GFAP p.Leu352Val Uncertain significance Single submitter
- GFAP p.Leu357Gln Uncertain significance Single submitter
- GFAP p.Leu369Val Uncertain significance Single submitter
-
GFAP p.Leu370Val
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Leu394Val Uncertain significance Single submitter
- GFAP p.Leu46Phe Uncertain significance Single submitter
- GFAP p.Leu46Val Uncertain significance Single submitter
- GFAP p.Leu58Pro Uncertain significance Single submitter
-
GFAP p.Lys228Glu
Uncertain significance
Single submitter
Alexander disease
-
GFAP p.Lys368Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFAP p.Lys425Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GFAP p.Met21Ile Uncertain significance Single submitter
- GFAP p.Phe261Ser Uncertain significance Single submitter
-
GFAP p.Ser134Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- GFAP p.Ser192Thr Uncertain significance Single submitter
-
GFAP p.Ser305Pro
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Ser323Thr Uncertain significance Single submitter
- GFAP p.Ser53Ala Uncertain significance Single submitter
- GFAP p.Ser68Gly Uncertain significance Single submitter
- GFAP p.Thr110Ala Uncertain significance Single submitter
-
GFAP p.Thr159Ile
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Thr232Asn Uncertain significance Single submitter
-
GFAP p.Thr240Met
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Thr240Pro Uncertain significance Single submitter
- GFAP p.Thr293Ile Uncertain significance Single submitter
- GFAP p.Thr35Ser Uncertain significance Single submitter
- GFAP p.Thr383Ser Uncertain significance Single submitter
- GFAP p.Thr412Ser Uncertain significance Single submitter
- GFAP p.Thr48Ser Uncertain significance Single submitter
- GFAP p.Thr7Asn Uncertain significance Single submitter
- GFAP p.Tyr172His Uncertain significance Single submitter
- GFAP p.Tyr242Cys Uncertain significance Single submitter
-
GFAP p.Tyr257Cys
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Tyr349Cys Uncertain significance Single submitter
- GFAP p.Tyr83Asn Uncertain significance Single submitter
- GFAP p.Val115Ile Uncertain significance Single submitter
- GFAP p.Val15Leu Uncertain significance Single submitter
- GFAP p.Val220Asp Uncertain significance Single submitter
- GFAP p.Val318Ala Uncertain significance Single submitter
- GFAP p.Val381Leu Uncertain significance Single submitter
-
GFAP p.Leu120Met
Uncertain significance
No assertion criteria
GFAP-related disorder
Predictors split 58
The independent predictors disagree with each other — read with care.
-
GFAP p.Ala246Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFAP p.Ala282Thr
Uncertain significance
Multiple submitters
GFAP-related disorder
-
GFAP p.Arg105Trp
Benign/Likely benign
Multiple submitters
Alexander disease
- GFAP p.Arg11Cys Uncertain significance Multiple submitters
-
GFAP p.Arg136Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFAP p.Arg209Gly
Uncertain significance
Multiple submitters
Alexander disease
-
GFAP p.Arg49Trp
Uncertain significance
Multiple submitters
Alexander disease
-
GFAP p.Glu314Gln
Uncertain significance
Multiple submitters
Alexander disease
-
GFAP p.Glu391Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFAP p.Met73Ile
Likely pathogenic
Multiple submitters
Alexander disease
-
GFAP p.Met74Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFAP p.Phe89Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFAP p.Ser192Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFAP p.Val413Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GFAP p.Ala99Asp Uncertain significance Single submitter
-
GFAP p.Arg105Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFAP p.Arg124Gln
Conflicting
Single submitter
Alexander disease
- GFAP p.Arg126Trp Conflicting Single submitter
- GFAP p.Arg136Gln Uncertain significance Single submitter
- GFAP p.Arg183His Uncertain significance Single submitter
- GFAP p.Arg201Trp Uncertain significance Single submitter
-
GFAP p.Arg209Trp
Conflicting
Single submitter
Inborn genetic diseases
- GFAP p.Arg258His Uncertain significance Single submitter
- GFAP p.Arg276Cys Uncertain significance Single submitter
- GFAP p.Arg300His Uncertain significance Single submitter
- GFAP p.Arg311Leu Uncertain significance Single submitter
-
GFAP p.Arg311Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFAP p.Arg344Gly
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Arg344His Uncertain significance Single submitter
- GFAP p.Arg390Gln Uncertain significance Single submitter
-
GFAP p.Arg416Gln
Conflicting
Single submitter
Inborn genetic diseases
-
GFAP p.Asn303Lys
Uncertain significance
Single submitter
Alexander disease
-
GFAP p.Asn386Lys
Likely pathogenic
Single submitter
GFAP-related disorder
-
GFAP p.Asn59Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- GFAP p.Asp51Asn Uncertain significance Single submitter
- GFAP p.Gln350Glu Uncertain significance Single submitter
- GFAP p.Glu166Gln Uncertain significance Single submitter
- GFAP p.Glu166Lys Uncertain significance Single submitter
-
GFAP p.Glu205Lys
Conflicting
Single submitter
Alexander disease
-
GFAP p.Glu207Asp
Likely pathogenic
Single submitter
Alexander disease
-
GFAP p.Glu223Gln
Conflicting
Single submitter
Alexander disease
- GFAP p.Glu252Ala Uncertain significance Single submitter
- GFAP p.Glu307Ala Uncertain significance Single submitter
- GFAP p.Glu312Gln Uncertain significance Single submitter
-
GFAP p.Glu326Gln
Likely benign
Single submitter
Alexander disease
- GFAP p.His403Tyr Uncertain significance Single submitter
- GFAP p.Leu155Ile Uncertain significance Single submitter
- GFAP p.Leu54Gln Uncertain significance Single submitter
- GFAP p.Lys405Asn Uncertain significance Single submitter
- GFAP p.Met415Ile Likely pathogenic Single submitter
-
GFAP p.Pro109Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFAP p.Ser13Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- GFAP p.Ser38Phe Uncertain significance Single submitter
- GFAP p.Thr232Ala Uncertain significance Single submitter
-
GFAP p.Thr65Asn
Uncertain significance
Single submitter
Alexander disease
- GFAP p.Val115Ala Uncertain significance Single submitter
-
GFAP p.Val355Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- GFAP p.Val410Leu Uncertain significance Single submitter
All GFAP variants
Pathogenic 47
- p.Arg239Cys Multiple submitters Alexander disease
- p.Arg239His Multiple submitters spastic paraplegia, intellectual disability, nystagmus, and obesity
- p.Arg239Leu Multiple submitters Alexander disease
- p.Arg258Cys Multiple submitters GFAP-related disorder ⚠
- p.Arg376Trp Multiple submitters GFAP-related disorder
- p.Arg416Trp Multiple submitters GFAP-related disorder
- p.Arg70Trp Multiple submitters Alexander disease
- p.Arg79Cys Multiple submitters GFAP-related disorder
- p.Arg79His Multiple submitters Alexander disease
- p.Arg88Cys Multiple submitters Alexander disease
- p.Asn386Ser Multiple submitters GFAP-related disorder ⚠
- p.Tyr366His Multiple submitters Alexander disease
- p.Val87Ile Multiple submitters Alexander disease
- p.Val87Leu Multiple submitters Alexander disease
- c.617_618+1del Single submitter
- p.Ala253Gly Single submitter Alexander disease
- p.Ala267Pro Single submitter Alexander disease
- p.Ala81Asp Single submitter Alexander disease
- p.Arg276Leu Single submitter GFAP-related disorder
- p.Arg376Gly Single submitter
- p.Arg79Gly Single submitter Alexander disease
- p.Arg79Leu Single submitter Alexander disease
- p.Asn386Ile Single submitter Alexander disease
- p.Asn77Lys Single submitter
- p.Asn77Ser Single submitter Alexander disease
- p.Asp360Val Single submitter Alexander disease
- p.Asp78Glu Single submitter Alexander disease
- p.Asp78Tyr Single submitter
- p.Glu373Lys Single submitter Alexander disease
- p.Glu374Gln Single submitter
- p.Gly18Val Single submitter GFAP-related disorder ⚠
- p.Ile363Val Single submitter Alexander disease
- p.Leu235Pro Single submitter Alexander disease
- p.Leu264Pro Single submitter Alexander disease
- p.Leu359Pro Single submitter Alexander disease
- p.Leu76Phe Single submitter Alexander disease
- p.Met73Thr Single submitter Alexander disease
- c.1171+475_1171+482delinsATC No assertion criteria Alexander disease
- p.Ala268Asp No assertion criteria Alexander disease
- p.Arg88Ser No assertion criteria Alexander disease
- p.Asn77Tyr No assertion criteria Alexander disease
- p.Glu332Lys No assertion criteria Alexander disease ⚠
- p.Glu362Asp No assertion criteria Alexander disease
- p.Glu362Gly No assertion criteria Alexander disease
- p.Leu352Pro No assertion criteria Alexander disease
- p.Met73Val No assertion criteria Alexander disease
- p.Ser398Phe No assertion criteria Alexander disease ⚠
Pathogenic/Likely pathogenic 2
- p.Asp128Asn Multiple submitters Alexander disease ⚠
- p.Ser385Cys Multiple submitters Alexander disease ⚠
Likely pathogenic 27
- p.Glu69Lys Multiple submitters Alexander disease
- p.Met73Ile Multiple submitters Alexander disease ⚠
- p.Ala358Thr Single submitter Alexander disease
- p.Ala364Thr Single submitter GFAP-related disorder ⚠
- p.Ala81Pro Single submitter Alexander disease
- p.Arg270Gly Single submitter Alexander disease
- p.Arg66Pro Single submitter
- p.Asn375Lys Single submitter Alexander disease
- p.Asn386Lys Single submitter GFAP-related disorder ⚠
- p.Asn407Ile Single submitter
- p.Asp360Tyr Single submitter GFAP-related disorder
- p.Glu207Asp Single submitter Alexander disease ⚠
- p.Glu237del Single submitter
- p.Glu362Gln Single submitter GFAP-related disorder
- p.Glu374Lys Single submitter GFAP-related disorder
- p.Glu414fs Single submitter
- p.His345Pro Single submitter
- p.Leu123Pro Single submitter Alexander disease
- p.Leu357Pro Single submitter Alexander disease
- p.Leu76Pro Single submitter Alexander disease
- p.Leu97Pro Single submitter GFAP-related disorder
- p.Lys236Glu Single submitter Alexander disease
- p.Lys260Glu Single submitter metachromatic leukodystrophy
- p.Met415Ile Single submitter ⚠
- p.Thr412Ile Single submitter Alexander disease
- p.Glu72Gly No assertion criteria Alexander disease
- p.Tyr349Ser No assertion criteria scoliosis
Conflicting classifications of pathogenicity 35
- c.1171+420C>T Single submitter Alexander disease
- c.1171+472G>A Single submitter Alexander disease
- c.1171+472G>C Single submitter Alexander disease
- c.1171+473C>A Single submitter Alexander disease
- p.Ala132Thr Single submitter ⚠
- p.Ala26Val Single submitter Inborn genetic diseases ⚠
- p.Ala96Val Single submitter Alexander disease ⚠
- p.Arg121Gln Single submitter Alexander disease ⚠
- p.Arg124Gln Single submitter Alexander disease ⚠
- p.Arg124Trp Single submitter Alexander disease ⚠
- p.Arg126Trp Single submitter ⚠
- p.Arg12Cys Single submitter Inborn genetic diseases ⚠
- p.Arg198Gln Single submitter hereditary spastic paraplegia ⚠
- p.Arg209Trp Single submitter Inborn genetic diseases ⚠
- p.Arg217Gln Single submitter Alexander disease ⚠
- p.Arg29His Single submitter Inborn genetic diseases ⚠
- p.Arg376Gln Single submitter Alexander disease ⚠
- p.Arg416Gln Single submitter Inborn genetic diseases ⚠
- p.Arg66Gln Single submitter Alexander disease ⚠
- p.Arg66Trp Single submitter GFAP-related disorder ⚠
- p.Arg70Gln Single submitter Alexander disease
- p.Asn283Ser Single submitter ⚠
- p.Asn77Asp Single submitter GFAP-related disorder ⚠
- p.Glu205Lys Single submitter Alexander disease ⚠
- p.Glu207Val Single submitter ⚠
- p.Glu223Gln Single submitter Alexander disease ⚠
- p.Glu371Lys Single submitter Alexander disease ⚠
- p.Gly335Arg Single submitter
- p.Ile84Met Single submitter Alexander disease ⚠
- p.Leu370Pro Single submitter Progressive ventriculomegaly ⚠
- p.Met245Thr Single submitter ⚠
- p.Ser298Phe Single submitter Inborn genetic diseases ⚠
- p.Thr110Ser Single submitter Alexander disease ⚠
- p.Val226Met Single submitter Inborn genetic diseases ⚠
- p.Val87Phe Single submitter ⚠
Benign 37
- c.1128-66C>G Multiple submitters
- c.1171+459_1171+460inv Multiple submitters
- c.1171+460C>T Multiple submitters
- c.1171+501C>A Multiple submitters
- c.1257+222T>G Multiple submitters
- c.1258-203C>T Multiple submitters
- c.1258-86C>T Multiple submitters
- c.461+142C>T Multiple submitters
- c.462-24C>T Multiple submitters
- c.619-9C>G Multiple submitters
- c.780+297G>A Multiple submitters
- c.906+81A>G Multiple submitters
- c.907-98C>G Multiple submitters
- c.-264C>A Multiple submitters
- p.Arg286= Multiple submitters
- p.Asp295Asn Multiple submitters
- p.Gly32= Multiple submitters
- c.1127+39_1127+41del Single submitter
- c.1128-151C>T Single submitter
- c.1171+336dup Single submitter
- c.1171+425T>G Single submitter
- c.1172-120C>T Single submitter
- c.1172-186_1172-185insGACTGGACAGAGCAGCCAGGACTTG Single submitter
- c.1172-187T>C Single submitter
- c.1172-255G>A Single submitter
- c.461+199del Single submitter
- c.462-286_462-285insGG Single submitter
- c.618+8C>T Single submitter
- c.619-20G>A Single submitter
- c.780+123C>A Single submitter
- c.781-316dup Single submitter
- c.781-317C>A Single submitter
- c.907-35G>C Single submitter
- c.*2548T>C Single submitter
- p.Ala179= Single submitter
- p.Arg416= Single submitter
- p.Val22= Single submitter
Benign/Likely benign 18
- c.1171+459A>G Multiple submitters
- c.1171+467G>A Multiple submitters
- c.1171+471C>T Multiple submitters
- c.462-8C>T Multiple submitters
- c.462-8dup Multiple submitters Alexander disease
- c.619-12C>T Multiple submitters
- c.*16G>A Multiple submitters
- c.*28C>G Multiple submitters
- p.Ala246= Multiple submitters Alexander disease
- p.Arg105Trp Multiple submitters Alexander disease ⚠
- p.Arg319= Multiple submitters Alexander disease
- p.Asp114Glu Multiple submitters
- p.Asp157Asn Multiple submitters
- p.Asp225= Multiple submitters
- p.Pro47Leu Multiple submitters Inborn genetic diseases
- p.Ser53= Multiple submitters
- p.Thr131= Multiple submitters
- p.Thr240= Multiple submitters Alexander disease
Likely benign 123
- c.1171+20G>A Multiple submitters
- c.1171+20G>C Multiple submitters
- c.1171+421G>A Multiple submitters
- c.1171+474G>A Multiple submitters
- c.1258-19C>T Multiple submitters
- c.462-11C>T Multiple submitters
- c.462-8C>A Multiple submitters
- c.522+12G>A Multiple submitters
- c.522+15G>A Multiple submitters
- c.522+19A>T Multiple submitters
- c.618+18G>A Multiple submitters
- c.619-96G>T Multiple submitters
- c.-1G>A Multiple submitters
- p.Ala145Thr Multiple submitters
- p.Ala165= Multiple submitters
- p.Arg30His Multiple submitters Inborn genetic diseases
- p.Arg316Gln Multiple submitters Inborn genetic diseases
- p.Asn77= Multiple submitters
- p.Asp177= Multiple submitters
- p.Asp284= Multiple submitters
- p.Leu127= Multiple submitters
- p.Leu130Val Multiple submitters Inborn genetic diseases
- p.Leu25= Multiple submitters
- p.Leu394= Multiple submitters
- p.Pro380= Multiple submitters
- p.Pro44Ala Multiple submitters Inborn genetic diseases
- p.Tyr14= Multiple submitters
- p.Tyr172= Multiple submitters
- p.Tyr349= Multiple submitters
- p.Val15Ile Multiple submitters Inborn genetic diseases
- c.1171+110C>T Single submitter
- c.1171+143C>T Single submitter
- c.1171+14G>T Single submitter
- c.1171+16C>T Single submitter
- c.1171+19C>A Single submitter
- c.1171+359C>G Single submitter
- c.1171+366A>G Single submitter
- c.1171+374C>T Single submitter
- c.1171+375G>A Single submitter
- c.1171+37G>A Single submitter
- c.1171+396A>G Single submitter
- c.1171+449T>C Single submitter
- c.1171+450G>A Single submitter
- c.1171+464G>A Single submitter
- c.1171+467G>T Single submitter
- c.1171+471C>A Single submitter
- c.1171+473C>T Single submitter
- c.1172-16C>G Single submitter
- c.1257+9G>A Single submitter
- c.1258-10T>A Single submitter
- c.1258-6C>G Single submitter
- c.1258-9C>A Single submitter
- c.462-295TG[10] Single submitter
- c.462-8C>G Single submitter
- c.522+16G>A Single submitter
- c.522+16G>C Single submitter
- c.522+8A>C Single submitter
- c.522+9G>A Single submitter
- c.618+15G>C Single submitter
- c.618+18G>C Single submitter
- c.619-14C>G Single submitter
- c.619-15T>C Single submitter
- c.619-35_619-21del Single submitter
- c.906+3G>A Single submitter
- c.906+6C>T Single submitter
- c.906+9G>A Single submitter
- c.907-17C>T Single submitter
- c.907-18dup Single submitter
- c.907-18G>T Single submitter
- c.*1001G>A Single submitter
- c.*1074C>T Single submitter
- c.*1522T>C Single submitter
- c.*1620C>T Single submitter
- c.*2761C>T Single submitter
- c.*338C>T Single submitter
- c.*814T>A Single submitter
- p.Ala182= Single submitter
- p.Ala253= Single submitter
- p.Ala26Thr Single submitter
- p.Ala282= Single submitter
- p.Ala96= Single submitter
- p.Arg124= Single submitter
- p.Arg188= Single submitter
- p.Arg316= Single submitter
- p.Arg88= Single submitter
- p.Asp114= Single submitter
- p.Asp128= Single submitter
- p.Asp417Gly Single submitter Alexander disease
- p.Asp78= Single submitter
- p.Gln156= Single submitter
- p.Glu187= Single submitter
- p.Glu307= Single submitter
- p.Glu326Gln Single submitter Alexander disease ⚠
- p.Gly23= Single submitter
- p.Gly335= Single submitter
- p.His204= Single submitter
- p.His317= Single submitter
- p.Ile361= Single submitter
- p.Ile389= Single submitter
- p.Ile421= Single submitter
- p.Ile84= Single submitter
- p.Leu112= Single submitter
- p.Leu289= Single submitter
- p.Leu331= Single submitter
- p.Leu338= Single submitter
- p.Leu357= Single submitter
- p.Leu404= Single submitter
- p.Lys236= Single submitter
- p.Pro229= Single submitter
- p.Pro43= Single submitter
- p.Pro47= Single submitter
- p.Ser17= Single submitter
- p.Ser192= Single submitter
- p.Ser8= Single submitter
- p.Thr232= Single submitter
- p.Thr412= Single submitter
- p.Thr48= Single submitter
- p.Tyr324= Single submitter
- p.Val318= Single submitter
- p.Val50Leu Single submitter
- c.1171+149A>G No assertion criteria GFAP-related disorder
- c.1171+461G>C No assertion criteria GFAP-related disorder
- c.618+10G>A No assertion criteria GFAP-related disorder
Uncertain significance 263
- c.1171+444C>T Multiple submitters
- c.1171+463C>T Multiple submitters
- p.Ala233Thr Multiple submitters Alexander disease ⚠
- p.Ala246Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala269Ser Multiple submitters ⚠
- p.Ala282Thr Multiple submitters GFAP-related disorder ⚠
- p.Arg11Cys Multiple submitters ⚠
- p.Arg121Ter Multiple submitters GFAP-related disorder
- p.Arg124_Leu125insGluLeuArg Multiple submitters
- p.Arg12Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg136Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg209Gly Multiple submitters Alexander disease ⚠
- p.Arg29Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg30Cys Multiple submitters ⚠
- p.Arg36His Multiple submitters ⚠
- p.Arg390Ter Multiple submitters
- p.Arg49Trp Multiple submitters Alexander disease ⚠
- p.Arg5Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asn168Lys Multiple submitters Alexander disease
- p.Asp266Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln290Pro Multiple submitters ⚠
- p.Gln336fs Multiple submitters Inborn genetic diseases
- p.Gln350Arg Multiple submitters ⚠
- p.Glu196Ter Multiple submitters
- p.Glu254Lys Multiple submitters Alexander disease ⚠
- p.Glu273Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu273Ter Multiple submitters
- p.Glu312Lys Multiple submitters Alexander disease ⚠
- p.Glu314Gln Multiple submitters Alexander disease ⚠
- p.Glu391Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu419Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu85Lys Multiple submitters ⚠
- p.Gly301Arg Multiple submitters ⚠
- p.His251Arg Multiple submitters Alexander disease ⚠
- p.Ile197Asn Multiple submitters ⚠
- p.Ile203Val Multiple submitters Alexander disease ⚠
- p.Ile421Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu163Pro Multiple submitters Alexander disease ⚠
- p.Leu200Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu306Pro Multiple submitters ⚠
- p.Leu346fs Multiple submitters
- p.Lys422fs Multiple submitters
- p.Met310Ile Multiple submitters Alexander disease
- p.Met342Thr Multiple submitters ⚠
- p.Met74Ile Multiple submitters Inborn genetic diseases ⚠
- p.Phe89Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser192Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr232Pro Multiple submitters ⚠
- p.Thr265Ala Multiple submitters Alexander disease ⚠
- p.Thr7del Multiple submitters
- p.Val409Met Multiple submitters Alexander disease ⚠
- p.Val413Met Multiple submitters Inborn genetic diseases ⚠
- c.1127+2T>A Single submitter
- c.1127+5G>A Single submitter Alexander disease
- c.1171+1_1171+5del Single submitter
- c.1171+135C>T Single submitter
- c.1171+139G>A Single submitter
- c.1171+144T>C Single submitter Alexander disease
- c.1171+21T>C Single submitter
- c.1171+352C>T Single submitter
- c.1171+398dup Single submitter
- c.1171+402C>A Single submitter
- c.1171+423G>A Single submitter
- c.1171+462C>T Single submitter
- c.1171+465C>A Single submitter
- c.1171+475G>A Single submitter
- c.1171+4A>G Single submitter
- c.1171+66T>A Single submitter
- c.1172-3C>T Single submitter
- c.1257+1G>A Single submitter
- c.462-2A>G Single submitter Alexander disease
- c.522+1G>T Single submitter
- c.618+1G>T Single submitter
- c.618+6G>A Single submitter
- c.619-10_619-9delinsTG Single submitter
- c.781-3T>G Single submitter
- c.906+7G>A Single submitter
- c.906+9G>C Single submitter
- c.907-6C>G Single submitter
- p.Ala118Pro Single submitter ⚠
- p.Ala135Thr Single submitter ⚠
- p.Ala149Asp Single submitter ⚠
- p.Ala171Val Single submitter ⚠
- p.Ala176Val Single submitter ⚠
- p.Ala182Asp Single submitter ⚠
- p.Ala182Val Single submitter ⚠
- p.Ala216Thr Single submitter Alexander disease ⚠
- p.Ala234Asp Single submitter Alexander disease ⚠
- p.Ala234Thr Single submitter ⚠
- p.Ala253Thr Single submitter Alexander disease ⚠
- p.Ala267Ser Single submitter Alexander disease ⚠
- p.Ala321Val Single submitter ⚠
- p.Ala327Val Single submitter Alexander disease ⚠
- p.Ala57Thr Single submitter ⚠
- p.Ala60Thr Single submitter ⚠
- p.Ala67Gly Single submitter ⚠
- p.Ala96Pro Single submitter ⚠
- p.Ala99Asp Single submitter ⚠
- p.Arg105Gln Single submitter Inborn genetic diseases ⚠
- p.Arg11Gly Single submitter Inborn genetic diseases ⚠
- p.Arg11His Single submitter ⚠
- p.Arg11Pro Single submitter ⚠
- p.Arg126Gln Single submitter ⚠
- p.Arg126Pro Single submitter Alexander disease ⚠
- p.Arg12His Single submitter ⚠
- p.Arg136Gln Single submitter ⚠
- p.Arg141Ser Single submitter ⚠
- p.Arg162Ser Single submitter Alexander disease ⚠
- p.Arg183His Single submitter ⚠
- p.Arg183Leu Single submitter ⚠
- p.Arg201Trp Single submitter ⚠
- p.Arg209Gln Single submitter ⚠
- p.Arg217Ter Single submitter
- p.Arg239Gly Single submitter Alexander disease ⚠
- p.Arg258His Single submitter ⚠
- p.Arg276Cys Single submitter ⚠
- p.Arg276fs Single submitter
- p.Arg300His Single submitter ⚠
- p.Arg300Ser Single submitter Alexander disease ⚠
- p.Arg311Leu Single submitter ⚠
- p.Arg311Ser Single submitter Inborn genetic diseases ⚠
- p.Arg330Pro Single submitter Alexander disease ⚠
- p.Arg344Gly Single submitter Alexander disease ⚠
- p.Arg344His Single submitter ⚠
- p.Arg376= Single submitter
- p.Arg390Gln Single submitter ⚠
- p.Arg406Gly Single submitter ⚠
- p.Arg41Ter Single submitter
- p.Arg49Gln Single submitter ⚠
- p.Arg4Gly Single submitter ⚠
- p.Arg5His Single submitter ⚠
- p.Arg79fs Single submitter Inborn genetic diseases
- p.Arg79Ser Single submitter ⚠
- p.Asn102Lys Single submitter
- p.Asn143Ser Single submitter ⚠
- p.Asn249Lys Single submitter ⚠
- p.Asn271Lys Single submitter Inborn genetic diseases ⚠
- p.Asn283del Single submitter
- p.Asn303Lys Single submitter Alexander disease ⚠
- p.Asn386His Single submitter ⚠
- p.Asn407Ser Single submitter ⚠
- p.Asn407Thr Single submitter Inborn genetic diseases ⚠
- p.Asn59Ser Single submitter Inborn genetic diseases ⚠
- p.Asp142His Single submitter ⚠
- p.Asp177Gly Single submitter Alexander disease ⚠
- p.Asp360Gly Single submitter ⚠
- p.Asp51Asn Single submitter ⚠
- p.Cys294Ter Single submitter Alexander disease
- p.Gln146Arg Single submitter ⚠
- p.Gln153Ter Single submitter
- p.Gln218Ter Single submitter
- p.Gln325Pro Single submitter ⚠
- p.Gln347His Single submitter Inborn genetic diseases
- p.Gln350Glu Single submitter ⚠
- p.Gln350Ter Single submitter
- p.Gln382Glu Single submitter ⚠
- p.Glu100Asp Single submitter ⚠
- p.Glu108Gly Single submitter ⚠
- p.Glu166Asp Single submitter ⚠
- p.Glu166Gln Single submitter ⚠
- p.Glu166Lys Single submitter ⚠
- p.Glu175Gly Single submitter ⚠
- p.Glu195Val Single submitter Inborn genetic diseases ⚠
- p.Glu196Gln Single submitter ⚠
- p.Glu205Ter Single submitter
- p.Glu213Asp Single submitter Alexander disease ⚠
- p.Glu223fs Single submitter
- p.Glu223Val Single submitter ⚠
- p.Glu252Ala Single submitter ⚠
- p.Glu255Asp Single submitter ⚠
- p.Glu281Lys Single submitter ⚠
- p.Glu281Ter Single submitter
- p.Glu297Lys Single submitter ⚠
- p.Glu304Lys Single submitter ⚠
- p.Glu307Ala Single submitter ⚠
- p.Glu312= Single submitter
- p.Glu312Gln Single submitter ⚠
- p.Glu312Ter Single submitter Alexander disease
- p.Glu326Ala Single submitter ⚠
- p.Glu371fs Single submitter
- p.Glu401Asp Single submitter ⚠
- p.Glu423Ter Single submitter
- p.Glu64Asp Single submitter ⚠
- p.Glu75Lys Single submitter Alexander disease ⚠
- p.Gly23Ala Single submitter ⚠
- p.Gly24Ser Single submitter ⚠
- p.Gly301Asp Single submitter ⚠
- p.Gly335Val Single submitter ⚠
- p.Gly372Asp Single submitter ⚠
- p.Gly402Ser Single submitter ⚠
- p.Gly418Arg Single submitter ⚠
- p.His280Gln Single submitter ⚠
- p.His403Tyr Single submitter ⚠
- p.Ile363Met Single submitter ⚠
- p.Ile363Phe Single submitter ⚠
- p.Ile379Val Single submitter Inborn genetic diseases ⚠
- p.Leu101Pro Single submitter GFAP-related disorder ⚠
- p.Leu120Pro Single submitter ⚠
- p.Leu155Ile Single submitter ⚠
- p.Leu161Pro Single submitter ⚠
- p.Leu215Val Single submitter Inborn genetic diseases ⚠
- p.Leu224Pro Single submitter ⚠
- p.Leu25fs Single submitter
- p.Leu275Arg Single submitter ⚠
- p.Leu289Ter Single submitter
- p.Leu328Pro Single submitter ⚠
- p.Leu331fs Single submitter
- p.Leu352Val Single submitter ⚠
- p.Leu357Gln Single submitter ⚠
- p.Leu369Val Single submitter ⚠
- p.Leu370Val Single submitter Alexander disease ⚠
- p.Leu394Val Single submitter ⚠
- p.Leu46Phe Single submitter ⚠
- p.Leu46Val Single submitter ⚠
- p.Leu54Gln Single submitter ⚠
- p.Leu58Pro Single submitter ⚠
- p.Lys228Glu Single submitter Alexander disease ⚠
- p.Lys279fs Single submitter
- p.Lys368Gln Single submitter Inborn genetic diseases ⚠
- p.Lys405Asn Single submitter ⚠
- p.Lys425Arg Single submitter Inborn genetic diseases ⚠
- p.Met21Ile Single submitter ⚠
- p.Met250Ile Single submitter
- p.Phe261Ser Single submitter ⚠
- p.Pro109Thr Single submitter Inborn genetic diseases ⚠
- p.Ser134Gly Single submitter Inborn genetic diseases ⚠
- p.Ser13Phe Single submitter Inborn genetic diseases ⚠
- p.Ser192Thr Single submitter ⚠
- p.Ser305Pro Single submitter Alexander disease ⚠
- p.Ser323Thr Single submitter ⚠
- p.Ser38Phe Single submitter ⚠
- p.Ser53Ala Single submitter ⚠
- p.Ser68Gly Single submitter ⚠
- p.Thr110Ala Single submitter ⚠
- p.Thr159Ile Single submitter Alexander disease ⚠
- p.Thr232Ala Single submitter ⚠
- p.Thr232Asn Single submitter ⚠
- p.Thr240Met Single submitter Alexander disease ⚠
- p.Thr240Pro Single submitter ⚠
- p.Thr293Ile Single submitter ⚠
- p.Thr302= Single submitter
- p.Thr35Ser Single submitter ⚠
- p.Thr383Ile Single submitter Alexander disease
- p.Thr383Ser Single submitter ⚠
- p.Thr412Ser Single submitter ⚠
- p.Thr48Ser Single submitter ⚠
- p.Thr65Asn Single submitter Alexander disease ⚠
- p.Thr7Asn Single submitter ⚠
- p.Tyr172His Single submitter ⚠
- p.Tyr242Cys Single submitter ⚠
- p.Tyr257Cys Single submitter Alexander disease ⚠
- p.Tyr349Cys Single submitter ⚠
- p.Tyr83Asn Single submitter ⚠
- p.Val115Ala Single submitter ⚠
- p.Val115Ile Single submitter ⚠
- p.Val15Leu Single submitter ⚠
- p.Val220Asp Single submitter ⚠
- p.Val318Ala Single submitter ⚠
- p.Val355Ile Single submitter Inborn genetic diseases ⚠
- p.Val381Leu Single submitter ⚠
- p.Val410Leu Single submitter ⚠
- p.Leu120Met No assertion criteria GFAP-related disorder ⚠
- p.Pro380Ser No assertion criteria GFAP-related disorder ⚠