NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter)Pathogenic
not provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 4|TBK1-related disorder
★★☆☆2026→ Residue 357
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
★★☆☆2025→ Residue 79
NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
★★☆☆2025→ Residue 450
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4|not provided|Amyotrophic lateral sclerosis|TBK1-related disorder
★★☆☆2025→ Residue 643
NM_013254.4(TBK1):c.922C>T (p.Arg308Ter)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
★★☆☆2025→ Residue 308
NM_013254.4(TBK1):c.1341-1G>ALikely pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4|Incidental Discovery
★★☆☆2025
NM_013254.4(TBK1):c.992+1G>APathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4|Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8|Amyotrophic lateral sclerosis|Papillary renal cell carcinoma type 1
★★☆☆2025
NM_013254.4(TBK1):c.1272del (p.Cys423_Tyr424insTer)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4|not provided
★★☆☆2025→ Residue 423
NM_013254.4(TBK1):c.379C>T (p.Arg127Ter)Pathogenic
not provided
★★☆☆2025→ Residue 127
NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter)Pathogenic
Motor neuron disease|not provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
★★☆☆2024→ Residue 444
NM_013254.4(TBK1):c.1335G>A (p.Trp445Ter)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4|not provided
★★☆☆2024→ Residue 445
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
★★☆☆2024→ Residue 117
NM_013254.4(TBK1):c.701+1G>APathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4|Amyotrophic lateral sclerosis|TBK1-related disorder
★★☆☆2023
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
★★☆☆2021→ Residue 385
NM_013254.4(TBK1):c.1382del (p.Lys461fs)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
★☆☆☆2026→ Residue 461
NM_013254.4(TBK1):c.1070G>A (p.Arg357Gln)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
★☆☆☆2026→ Residue 357
NM_013254.4(TBK1):c.1694A>C (p.Gln565Pro)Likely pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
★☆☆☆2025→ Residue 565
NM_013254.4(TBK1):c.1765A>T (p.Lys589Ter)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
★☆☆☆2025→ Residue 589
NM_013254.4(TBK1):c.748C>T (p.Gln250Ter)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
★☆☆☆2025→ Residue 250
NM_013254.4(TBK1):c.358+1G>TLikely pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
★☆☆☆2025