NM_002087.4(GRN):c.708+1G>APathogenic
Frontotemporal dementia|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|not provided|Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β
β
ββ2026
NM_002087.4(GRN):c.709-2A>GPathogenic
not provided|Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|Primary progressive aphasia
β
β
ββ2025
NM_002087.4(GRN):c.1010_1011del (p.Gln337fs)Pathogenic
not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11
β
β
ββ2025β Residue 337
NM_002087.4(GRN):c.388_391del (p.Gln130fs)Pathogenic
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|not provided|Frontotemporal dementia|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11|GRN-related disorder
β
β
ββ2025β Residue 130
NM_002087.4(GRN):c.708+6_708+9delPathogenic
not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11|Inborn genetic diseases|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β
β
ββ2025
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter)Pathogenic
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11|GRN-related disorder|Neuronal ceroid lipofuscinosis 11
β
β
ββ2025β Residue 493
NM_002087.4(GRN):c.934-1G>ALikely pathogenic
Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β
β
ββ2025
NM_002087.4(GRN):c.26C>A (p.Ala9Asp)Pathogenic
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11
β
β
ββ2025β Residue 9
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)Pathogenic
not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|Amyotrophic lateral sclerosis type 10
β
β
ββ2025β Residue 418
NM_002087.4(GRN):c.759_760del (p.Cys253_Asp254delinsTer)Pathogenic
not provided|Frontotemporal dementia|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β
β
ββ2025β Residue 253
NM_002087.4(GRN):c.154del (p.Thr52fs)Pathogenic
not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β
β
ββ2024β Residue 52
NM_002087.4(GRN):c.675_676del (p.Ser226fs)Pathogenic
not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β
β
ββ2024β Residue 226
NM_002087.4(GRN):c.6G>A (p.Trp2Ter)Pathogenic
not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11
β
β
ββ2024β Residue 2
NM_002087.4(GRN):c.1145del (p.Thr382fs)Pathogenic
not provided|Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β
β
ββ2024β Residue 382
NM_002087.4(GRN):c.918C>A (p.Cys306Ter)Pathogenic
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|not provided
β
β
ββ2024β Residue 306
NM_002087.4(GRN):c.592_593del (p.Arg198fs)Pathogenic
not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11
β
β
ββ2024β Residue 198
NM_002087.4(GRN):c.1009C>T (p.Gln337Ter)Pathogenic
not provided|Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β
β
ββ2024β Residue 337
NM_002087.4(GRN):c.468_474del (p.Cys157fs)Pathogenic
not provided|Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
β
β
ββ2024β Residue 157
NM_002087.4(GRN):c.709-1G>APathogenic
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|not provided|Melanoma
β
β
ββ2024
NM_002087.4(GRN):c.813_816del (p.Thr272fs)Pathogenic
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|Neuronal ceroid lipofuscinosis 11|not provided|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11
β
β
ββ2024β Residue 272