NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)Pathogenic
Amyotrophic lateral sclerosis type 10|not provided|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|TARDBP-related disorder
β
β
ββ2025β Residue 352
NM_007375.4(TARDBP):c.931A>G (p.Met311Val)Likely pathogenic
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|not provided|Amyotrophic lateral sclerosis type 10|TARDBP-related disorder
β
β
ββ2025β Residue 311
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)Pathogenic
Amyotrophic lateral sclerosis type 10|not provided|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|See cases|TARDBP-related disorder
β
β
ββ2025β Residue 383
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)Pathogenic
Amyotrophic lateral sclerosis type 10|not provided|Motor neuron disease|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|TARDBP-related disorder
β
β
ββ2025β Residue 287
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)Pathogenic
Amyotrophic lateral sclerosis type 10|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|not provided
β
β
ββ2025β Residue 337
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)Pathogenic
Amyotrophic lateral sclerosis type 10|not provided|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|TARDBP-related disorder
β
β
ββ2025β Residue 298
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)Pathogenic
Amyotrophic lateral sclerosis type 10|FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED|not provided|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|TARDBP-related disorder
β
β
ββ2025β Residue 382
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr)Pathogenic
Amyotrophic lateral sclerosis type 10|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|not provided
β
β
ββ2024β Residue 315
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)Pathogenic
Amyotrophic lateral sclerosis type 10|not provided|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10
β
β
ββ2024β Residue 348
NM_007375.4(TARDBP):c.1123A>G (p.Ser375Gly)Pathogenic
Amyotrophic lateral sclerosis type 10;FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
β
βββ2025β Residue 375
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser)Pathogenic
Amyotrophic lateral sclerosis type 10|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10
β
βββ2025β Residue 295
NM_007375.4(TARDBP):c.962C>G (p.Ala321Gly)Likely pathogenic
Amyotrophic lateral sclerosis type 10;FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
β
βββ2025β Residue 321
NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp)Likely pathogenic
Amyotrophic lateral sclerosis type 10;FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
β
βββ2025β Residue 378
NM_007375.4(TARDBP):c.1035C>A (p.Asn345Lys)Pathogenic
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10
β
βββ2022β Residue 345
NM_007375.4(TARDBP):c.962C>A (p.Ala321Asp)Likely pathogenic
Amyotrophic lateral sclerosis type 10;FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
β
βββ2022β Residue 321
NM_007375.4(TARDBP):c.1060C>G (p.Gln354Glu)Likely pathogenic
Amyotrophic lateral sclerosis type 10
β
βββ2020β Residue 354
NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro)Likely pathogenic
Frontotemporal dementia
β
βββ2019β Residue 377
NM_007375.4(TARDBP):c.1043G>T (p.Gly348Val)Pathogenic
Motor neuron disease
β
βββ2016β Residue 348
NM_007375.4(TARDBP):c.1133A>G (p.Asn378Ser)Likely pathogenic
Amyotrophic lateral sclerosis type 10
β
ββββ Residue 378
NM_007375.4(TARDBP):c.787A>G (p.Lys263Glu)Pathogenic
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
ββββ2009β Residue 263