TARDBP — 283 ClinVar variants
All ClinVar germline TARDBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →
9 Pathogenic · 8 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 14 Conflicting · 21 Benign · 9 Benign/Likely benign · 85 Likely benign · 130 Uncertain significance
Full TARDBP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 97
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 15
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
TARDBP p.Ala315Thr
Pathogenic
Multiple submitters
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Ala382Thr
Pathogenic/Likely pathogenic
Multiple submitters
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Asn352Ser
Pathogenic/Likely pathogenic
Multiple submitters
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Gly287Ser
Pathogenic/Likely pathogenic
Multiple submitters
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Gly294Val
Pathogenic/Likely pathogenic
Multiple submitters
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gly298Ser
Pathogenic/Likely pathogenic
Multiple submitters
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Gly348Cys
Pathogenic/Likely pathogenic
Multiple submitters
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Ile383Val
Pathogenic/Likely pathogenic
Multiple submitters
TARDBP-related disorder
-
TARDBP p.Asn378Asp
Likely pathogenic
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Asn378Ser
Likely pathogenic
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gln354Glu
Likely pathogenic
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gly295Ser
Pathogenic
Single submitter
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Gly348Val
Pathogenic
Single submitter
motor neuron disorder
-
TARDBP p.Ser375Gly
Pathogenic
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Ser377Pro
Likely pathogenic
Single submitter
frontotemporal dementia
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TARDBP p.Ala90Val
Conflicting
Single submitter
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Asn267Ser
Conflicting
Single submitter
Inborn genetic diseases
-
TARDBP p.Asn390Ser
Conflicting
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gly298Val
Conflicting
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gly384Arg
Conflicting
Single submitter
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Met311Val
Conflicting
Single submitter
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Predictors lean, ClinVar uncertain 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TARDBP p.Gly309Ser
Uncertain significance
Multiple submitters
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Gly357Ser
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gly402Ser
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 10
-
TARDBP p.Met359Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TARDBP p.Met405Val
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 10
-
TARDBP p.Tyr374Phe
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 10
-
TARDBP p.Ala315Gly
Uncertain significance
Single submitter
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Ala381Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Ala381Thr
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
- TARDBP p.Ala388Val Uncertain significance Single submitter
-
TARDBP p.Arg151His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Asn259Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Asn355Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Asn358Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TARDBP p.Asn358Tyr Uncertain significance Single submitter
-
TARDBP p.Asn70Asp
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Asn70Thr
Uncertain significance
Single submitter
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Gln118Pro
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gln184Lys
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gln269Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Gln346His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Glu11Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Gly196Glu
Uncertain significance
Single submitter
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Gly252Arg
Uncertain significance
Single submitter
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Gly290Ala
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gly294Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Gly304Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Gly351Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gly368Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Gly386Glu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gly396Asp
Uncertain significance
Single submitter
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.His264Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Ile383Thr
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Leu41Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Leu71Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Lys176Arg
Uncertain significance
Single submitter
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Lys97Arg
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Met218Val
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Met311Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Met323Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Phe231Val
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Pro64Ala
Uncertain significance
Single submitter
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Ser377Thr
Uncertain significance
Single submitter
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Ser389Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Ser92Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Thr88Ile
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
- TARDBP p.Trp113Leu Uncertain significance Single submitter
-
TARDBP p.Tyr374Ser
Uncertain significance
Single submitter
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- TARDBP p.Tyr43Ser Uncertain significance Single submitter
-
TARDBP p.Val57Ile
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Asp205Glu
Uncertain significance
No assertion criteria
TARDBP-related disorder
-
TARDBP p.Ser305Gly
Uncertain significance
No assertion criteria
TARDBP-related disorder
Predictors split 24
The independent predictors disagree with each other — read with care.
-
TARDBP p.Gly380Asp
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 10
-
TARDBP p.Met337Val
Pathogenic/Likely pathogenic
Multiple submitters
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Ala321Gly
Likely pathogenic
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Ala321Val
Likely pathogenic
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Ala326Thr
Uncertain significance
Single submitter
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- TARDBP p.Asn259Asp Uncertain significance Single submitter
-
TARDBP p.Asn345Lys
Pathogenic
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Asp219Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Asp23Asn
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Cys50Ser
Likely benign
Single submitter
Inborn genetic diseases
-
TARDBP p.Gln213His
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gly274Glu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gly295Arg
Conflicting
Single submitter
amyotrophic lateral sclerosis type 10
- TARDBP p.Gly298Cys Uncertain significance Single submitter
-
TARDBP p.Gly357Arg
Conflicting
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gly376Val
Uncertain significance
Single submitter
inclusion body myositis
-
TARDBP p.Phe316Leu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Ser332Asn
Uncertain significance
Single submitter
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
-
TARDBP p.Ser393Leu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Thr32Ile
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 10
-
TARDBP p.Thr88Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TARDBP p.Gln331Lys
Pathogenic
No assertion criteria
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gln343Arg
Pathogenic
No assertion criteria
amyotrophic lateral sclerosis type 10
-
TARDBP p.Gly277Arg
Uncertain significance
No assertion criteria
TARDBP-related disorder
All TARDBP variants
Pathogenic 9
- p.Ala315Thr Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Asn345Lys Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Gly295Ser Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Gly348Val Single submitter motor neuron disorder ⚠
- p.Ser375Gly Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Asp169Gly No assertion criteria amyotrophic lateral sclerosis type 10
- p.Gln331Lys No assertion criteria amyotrophic lateral sclerosis type 10 ⚠
- p.Gln343Arg No assertion criteria amyotrophic lateral sclerosis type 10 ⚠
- p.Lys263Glu No assertion criteria FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
Pathogenic/Likely pathogenic 8
- p.Ala382Thr Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Asn352Ser Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Gly287Ser Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Gly294Val Multiple submitters amyotrophic lateral sclerosis type 10 ⚠
- p.Gly298Ser Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Gly348Cys Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Ile383Val Multiple submitters TARDBP-related disorder ⚠
- p.Met337Val Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
Likely pathogenic 7
- p.Ala321Asp Single submitter amyotrophic lateral sclerosis type 10
- p.Ala321Gly Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Ala321Val Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Asn378Asp Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Asn378Ser Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Gln354Glu Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Ser377Pro Single submitter frontotemporal dementia ⚠
Conflicting classifications of pathogenicity 14
- p.Ala321= Single submitter amyotrophic lateral sclerosis type 10
- p.Ala90Val Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Asn12= Single submitter amyotrophic lateral sclerosis type 10
- p.Asn267Ser Single submitter Inborn genetic diseases ⚠
- p.Asn390Asp Single submitter amyotrophic lateral sclerosis type 10
- p.Asn390Ser Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Gly295Arg Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Gly298Val Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Gly357Arg Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Gly384Arg Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Met311Val Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Pro19= Single submitter amyotrophic lateral sclerosis type 10
- p.Pro223= Single submitter amyotrophic lateral sclerosis type 10
- p.Ser29= Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Benign 21
- c.238+9C>T Multiple submitters amyotrophic lateral sclerosis type 10
- c.403-65A>G Multiple submitters
- c.543+147A>G Multiple submitters
- c.714+69dup Multiple submitters amyotrophic lateral sclerosis type 10
- c.-13+95C>T Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- c.238+21dup Single submitter amyotrophic lateral sclerosis type 10
- c.238+228A>G Single submitter
- c.402+110C>T Single submitter
- c.402+213del Single submitter
- c.544-17C>T Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- c.714+166del Single submitter
- c.714+166dup Single submitter
- c.715-126del Single submitter
- c.715-301G>T Single submitter
- c.-12-263_-12-262del Single submitter
- c.*1081C>T Single submitter amyotrophic lateral sclerosis type 10
- c.*2331A>G Single submitter amyotrophic lateral sclerosis type 10
- c.*2740G>A Single submitter amyotrophic lateral sclerosis type 10
- c.*343G>A Single submitter amyotrophic lateral sclerosis type 10
- c.*73G>C Single submitter amyotrophic lateral sclerosis type 10
- p.Leu27= Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Benign/Likely benign 9
- c.239-18T>C Multiple submitters amyotrophic lateral sclerosis type 10
- c.*208G>A Multiple submitters amyotrophic lateral sclerosis type 10
- p.Ala325= Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Ala366= Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Ala66= Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.His264= Multiple submitters Inborn genetic diseases
- p.Pro225= Multiple submitters amyotrophic lateral sclerosis type 10
- p.Ser347= Multiple submitters amyotrophic lateral sclerosis type 10
- p.Thr8= Multiple submitters amyotrophic lateral sclerosis type 10
Likely benign 85
- c.239-15G>A Multiple submitters amyotrophic lateral sclerosis type 10
- c.543+9G>A Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- c.544-156A>G Multiple submitters
- c.714+17C>T Multiple submitters amyotrophic lateral sclerosis type 10
- c.714+79C>T Multiple submitters
- p.Ala240= Multiple submitters amyotrophic lateral sclerosis type 10
- p.Ala260= Multiple submitters Inborn genetic diseases
- p.Ala315= Multiple submitters Inborn genetic diseases
- p.Ala63= Multiple submitters Inborn genetic diseases
- p.Gly110= Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Gly300= Multiple submitters amyotrophic lateral sclerosis type 10
- p.Gly335= Multiple submitters Inborn genetic diseases
- p.Leu120= Multiple submitters amyotrophic lateral sclerosis type 10
- p.Lys137= Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Ser258= Multiple submitters amyotrophic lateral sclerosis type 10
- p.Tyr214= Multiple submitters amyotrophic lateral sclerosis type 10
- p.Tyr374= Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Val54= Multiple submitters Inborn genetic diseases
- c.238+16G>T Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- c.238+86A>G Single submitter
- c.239-116G>T Single submitter
- c.239-11G>A Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- c.239-12C>T Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- c.402+191C>T Single submitter
- c.402+19A>G Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- c.402+213dup Single submitter
- c.403-14A>G Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- c.403-5T>C Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- c.543+112C>A Single submitter Inborn genetic diseases
- c.543+15G>A Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- c.543+16C>G Single submitter amyotrophic lateral sclerosis type 10
- c.543+20G>T Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- c.543+265A>G Single submitter
- c.543+290A>G Single submitter
- c.544-15T>C Single submitter amyotrophic lateral sclerosis type 10
- c.544-17_544-14del Single submitter amyotrophic lateral sclerosis type 10
- c.544-184C>T Single submitter
- c.544-6G>C Single submitter amyotrophic lateral sclerosis type 10
- c.714+13T>C Single submitter amyotrophic lateral sclerosis type 10
- c.714+18G>A Single submitter amyotrophic lateral sclerosis type 10
- c.714+277T>C Single submitter
- c.715-11A>G Single submitter amyotrophic lateral sclerosis type 10
- c.715-18A>G Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- c.715-243C>T Single submitter
- c.-110C>T Single submitter amyotrophic lateral sclerosis type 10
- c.*1008T>G Single submitter amyotrophic lateral sclerosis type 10
- c.*1623T>A Single submitter amyotrophic lateral sclerosis type 10
- c.*2333C>T Single submitter amyotrophic lateral sclerosis type 10
- c.*81_*84del Single submitter Inborn genetic diseases
- p.Ala38= Single submitter amyotrophic lateral sclerosis type 10
- p.Ala391= Single submitter amyotrophic lateral sclerosis type 10
- p.Arg165= Single submitter amyotrophic lateral sclerosis type 10
- p.Arg208= Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Asn352= Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Cys175= Single submitter Inborn genetic diseases
- p.Cys198= Single submitter Inborn genetic diseases
- p.Cys50Ser Single submitter Inborn genetic diseases ⚠
- p.Gln213= Single submitter amyotrophic lateral sclerosis type 10
- p.Gln303= Single submitter amyotrophic lateral sclerosis type 10
- p.Gly284= Single submitter
- p.Gly298= Single submitter
- p.Gly310= Single submitter amyotrophic lateral sclerosis type 10
- p.Gly357= Single submitter amyotrophic lateral sclerosis type 10
- p.Gly37= Single submitter amyotrophic lateral sclerosis type 10
- p.Leu330= Single submitter amyotrophic lateral sclerosis type 10
- p.Lys114= Single submitter Inborn genetic diseases
- p.Phe231= Single submitter amyotrophic lateral sclerosis type 10
- p.Phe313= Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Phe367= Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Pro112= Single submitter Inborn genetic diseases
- p.Pro349= Single submitter Inborn genetic diseases
- p.Ser104= Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Ser212= Single submitter amyotrophic lateral sclerosis type 10
- p.Ser350= Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Ser393= Single submitter amyotrophic lateral sclerosis type 10
- p.Ser91= Single submitter amyotrophic lateral sclerosis type 10
- p.Thr116= Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Thr157= Single submitter
- p.Thr203= Single submitter amyotrophic lateral sclerosis type 10
- p.Thr233= Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Thr30= Single submitter
- p.Tyr155= Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Tyr4= Single submitter amyotrophic lateral sclerosis type 10
- p.Val220= Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Val57= No assertion criteria TARDBP-related disorder
Uncertain significance 130
- c.*697G>A Multiple submitters amyotrophic lateral sclerosis type 10
- p.Asn352Asp Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Asn378Ter Multiple submitters amyotrophic lateral sclerosis type 10
- p.Gly309Ser Multiple submitters FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Gly357Asp Multiple submitters amyotrophic lateral sclerosis type 10
- p.Gly357Ser Multiple submitters amyotrophic lateral sclerosis type 10 ⚠
- p.Gly380Asp Multiple submitters amyotrophic lateral sclerosis type 10 ⚠
- p.Gly402Ser Multiple submitters amyotrophic lateral sclerosis type 10 ⚠
- p.Met359Val Multiple submitters Inborn genetic diseases ⚠
- p.Met405Val Multiple submitters amyotrophic lateral sclerosis type 10 ⚠
- p.Tyr374Phe Multiple submitters amyotrophic lateral sclerosis type 10 ⚠
- c.543+4C>T Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- c.-117G>A Single submitter amyotrophic lateral sclerosis type 10
- c.-126G>T Single submitter amyotrophic lateral sclerosis type 10
- c.-42C>T Single submitter amyotrophic lateral sclerosis type 10
- c.-77G>A Single submitter amyotrophic lateral sclerosis type 10
- c.*1084A>T Single submitter amyotrophic lateral sclerosis type 10
- c.*129T>C Single submitter amyotrophic lateral sclerosis type 10
- c.*142T>C Single submitter amyotrophic lateral sclerosis type 10
- c.*159A>C Single submitter amyotrophic lateral sclerosis type 10
- c.*1622A>T Single submitter amyotrophic lateral sclerosis type 10
- c.*1795A>G Single submitter amyotrophic lateral sclerosis type 10
- c.*2005T>C Single submitter amyotrophic lateral sclerosis type 10
- c.*2029C>T Single submitter amyotrophic lateral sclerosis type 10
- c.*2046T>G Single submitter amyotrophic lateral sclerosis type 10
- c.*2123T>C Single submitter immunodeficiency due to MASP-2 deficiency
- c.*214T>C Single submitter amyotrophic lateral sclerosis type 10
- c.*2154G>T Single submitter amyotrophic lateral sclerosis type 10
- c.*2252A>G Single submitter amyotrophic lateral sclerosis type 10
- c.*2260T>G Single submitter amyotrophic lateral sclerosis type 10
- c.*2334G>A Single submitter amyotrophic lateral sclerosis type 10
- c.*2360C>T Single submitter amyotrophic lateral sclerosis type 10
- c.*2749T>C Single submitter amyotrophic lateral sclerosis type 10
- c.*2750G>A Single submitter amyotrophic lateral sclerosis type 10
- c.*2773A>G Single submitter amyotrophic lateral sclerosis type 10
- c.*2823T>C Single submitter amyotrophic lateral sclerosis type 10
- c.*306C>T Single submitter amyotrophic lateral sclerosis type 10
- c.*551C>G Single submitter amyotrophic lateral sclerosis type 10
- c.*556G>A Single submitter amyotrophic lateral sclerosis type 10
- c.*560A>T Single submitter amyotrophic lateral sclerosis type 10
- c.*56C>T Single submitter amyotrophic lateral sclerosis type 10
- c.*591G>A Single submitter amyotrophic lateral sclerosis type 10
- c.*616G>C Single submitter amyotrophic lateral sclerosis type 10
- c.*663C>T Single submitter amyotrophic lateral sclerosis type 10
- c.*666G>A Single submitter amyotrophic lateral sclerosis type 10
- c.*670T>C Single submitter amyotrophic lateral sclerosis type 10
- c.*763G>A Single submitter amyotrophic lateral sclerosis type 10
- c.*842G>A Single submitter amyotrophic lateral sclerosis type 10
- c.*862G>T Single submitter amyotrophic lateral sclerosis type 10
- c.*954A>G Single submitter amyotrophic lateral sclerosis type 10
- c.*963C>T Single submitter amyotrophic lateral sclerosis type 10
- p.Ala315Gly Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Ala315Val Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Ala326Thr Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Ala381Ser Single submitter Inborn genetic diseases ⚠
- p.Ala381Thr Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Ala388Val Single submitter ⚠
- p.Ala391_Gly392insAsnAla Single submitter
- p.Arg151His Single submitter Inborn genetic diseases ⚠
- p.Arg208Gln Single submitter amyotrophic lateral sclerosis type 10
- p.Asn259Asp Single submitter ⚠
- p.Asn259Ser Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Asn355Thr Single submitter Inborn genetic diseases ⚠
- p.Asn358Ser Single submitter Inborn genetic diseases ⚠
- p.Asn358Tyr Single submitter ⚠
- p.Asn70Asp Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Asn70Thr Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Asn76Ser Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Asp169Phe Single submitter amyotrophic lateral sclerosis type 10
- p.Asp219Asn Single submitter Inborn genetic diseases ⚠
- p.Asp23Asn Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Gln118Pro Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Gln184Lys Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Gln213His Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Gln269Pro Single submitter Inborn genetic diseases ⚠
- p.Gln346His Single submitter Inborn genetic diseases ⚠
- p.Gln356Arg Single submitter amyotrophic lateral sclerosis type 10
- p.Glu11Lys Single submitter Inborn genetic diseases ⚠
- p.Gly196Glu Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Gly252Arg Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Gly274Glu Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Gly290Ala Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Gly294Ala Single submitter Inborn genetic diseases ⚠
- p.Gly298Cys Single submitter ⚠
- p.Gly304Asp Single submitter Inborn genetic diseases ⚠
- p.Gly314Ala Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Gly351Ser Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Gly368Ser Single submitter Inborn genetic diseases ⚠
- p.Gly370_Tyr374dup Single submitter amyotrophic lateral sclerosis type 10
- p.Gly376Val Single submitter inclusion body myositis ⚠
- p.Gly386Glu Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Gly396Asp Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.His264Gln Single submitter Inborn genetic diseases ⚠
- p.Ile239= Single submitter amyotrophic lateral sclerosis type 10
- p.Ile383Thr Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Leu248Ter Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Leu270fs Single submitter
- p.Leu27fs Single submitter Inborn genetic diseases
- p.Leu41Phe Single submitter Inborn genetic diseases ⚠
- p.Leu71Met Single submitter Inborn genetic diseases ⚠
- p.Lys176Arg Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Lys97Arg Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Met167Val Single submitter amyotrophic lateral sclerosis type 10
- p.Met218Val Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Met311Ile Single submitter Inborn genetic diseases ⚠
- p.Met323Val Single submitter Inborn genetic diseases ⚠
- p.Met339Val Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Met359Arg Single submitter Inborn genetic diseases
- p.Phe231Val Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Phe316Leu Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Pro363Arg Single submitter amyotrophic lateral sclerosis type 10
- p.Pro64Ala Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Ser332Asn Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Ser373Tyr Single submitter amyotrophic lateral sclerosis type 10
- p.Ser377Thr Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Ser389Thr Single submitter Inborn genetic diseases ⚠
- p.Ser393Leu Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Ser92Leu Single submitter Inborn genetic diseases ⚠
- p.Thr32Ile Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Thr88Arg Single submitter Inborn genetic diseases ⚠
- p.Thr88Ile Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Trp113Leu Single submitter ⚠
- p.Trp385Ter Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- p.Tyr374Ser Single submitter FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ⚠
- p.Tyr374Ter Single submitter TARDBP-related disorder
- p.Tyr43Ser Single submitter ⚠
- p.Val57Ile Single submitter amyotrophic lateral sclerosis type 10 ⚠
- p.Asp205Glu No assertion criteria TARDBP-related disorder ⚠
- p.Gly277Arg No assertion criteria TARDBP-related disorder ⚠
- p.Ser305Gly No assertion criteria TARDBP-related disorder ⚠