Sugi Variant

Sugi Variant/TBK1

TBK1 — 607 ClinVar variants

All ClinVar germline TBK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 241 flagged for review →

55 Pathogenic · 7 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 14 Conflicting · 42 Benign · 20 Benign/Likely benign · 172 Likely benign · 276 Uncertain significance

Full TBK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 241

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 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 7

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 185

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 185

Predictors split 45

The independent predictors disagree with each other — read with care.

All TBK1 variants

Pathogenic 55

  • c.701+1G>A Multiple submitters amyotrophic lateral sclerosis
  • c.992+1G>A Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Arg308Ter Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Arg357Ter Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Arg440Ter Multiple submitters TBK1-related disorder
  • p.Ile450fs Multiple submitters TBK1-related disorder
  • p.Trp445Ter Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1189+1G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1189+1G>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1340+1G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.2138+2T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.359-1G>A Single submitter
  • c.701+2T>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ala412fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ala611_Phe612insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysValTer Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Arg25fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Asn578fs Single submitter
  • p.Asn652fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Asp546fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Asp639fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Gln250Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Gln297Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Gln2Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Gln565Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Glu463fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Glu580fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.His312fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.His369fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ile141fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu34Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu399fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu62fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu658fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Lys241fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Lys29= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Lys30fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Lys461fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Lys589Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Pro279fs Single submitter
  • p.Ser102fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ser247fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ser315Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ser499Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ser616fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ser645Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Thr462fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Trp619Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Tyr153fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Tyr174fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Tyr435Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Tyr591fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Val458fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Glu696Lys No assertion criteria frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Thr320fs No assertion criteria frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Tyr212Asp No assertion criteria autoinflammation with arthritis and vasculitis

Pathogenic/Likely pathogenic 7

  • p.Arg117Ter Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Arg127Ter Multiple submitters
  • p.Arg357Gln Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Cys423_Tyr424insTer Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Glu385Ter Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Glu643del Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Thr79del Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Likely pathogenic 21

  • c.1341-1G>A Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Gln565Pro Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1341-1G>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1443-1G>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1521+1G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1644-2A>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1760+1G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1863-1G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1960-2A>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.358+1G>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.813-12A>G Single submitter
  • p.Asp118Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Asp569fs Single submitter
  • p.Gln660Ter Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ile85del Single submitter
  • p.Lys69fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Val23fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Val479fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Arg229Ter No assertion criteria TBK1-related disorder
  • p.Asp203Gly No assertion criteria frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Glu703Ter No assertion criteria progressive non-fluent aphasia

Conflicting classifications of pathogenicity 14

  • c.1644-5_1644-2del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • c.1760+4_1760+7del Single submitter autoinflammation with arthritis and vasculitis
  • c.2139-7G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.813-7A>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Arg143Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Asn42Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gln17= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Glu653Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.His322Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.His403Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Leu277Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Leu94Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Met598Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ser151Phe Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠

Benign 42

Benign/Likely benign 20

  • c.1189+10G>A Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1341-3del Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1761-11C>T Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1960-10G>T Multiple submitters glaucoma 1, open angle, P
  • c.2139-11G>A Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.229-5_229-4dup Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.541-9del Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.541-9dup Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ala36= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Asn652del Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Asp409= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu173= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu306Ile Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu508Ile Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu613Phe Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Phe370= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Phe45= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ser3= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Thr210= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Val464Ala Multiple submitters glaucoma 1, open angle, P

Likely benign 172

  • c.1340+13T>C Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1721-232A>C Multiple submitters
  • c.1862+13_1862+15del Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1960-7G>T Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.2139-9G>T Multiple submitters
  • c.358+17A>G Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.812+7A>G Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ala104= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ala332= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Arg271Gln Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Arg358His Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Asn578= Multiple submitters
  • p.Asn681= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Gln553His Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ile522= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu126= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu59= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Lys622Arg Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1189+150G>A Single submitter
  • c.1190-10C>A Single submitter
  • c.1190-9A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1248+11A>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1248+18T>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1249-5A>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1340+8A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1340+9T>C Single submitter
  • c.1341-10_1341-9del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1341-54G>A Single submitter
  • c.1442+13C>A Single submitter
  • c.1442+17C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1442+18T>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1442+220A>G Single submitter
  • c.1442+273G>A Single submitter
  • c.1442+7A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1443-14G>A Single submitter
  • c.1443-15T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1443-216C>T Single submitter
  • c.1443-6A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1521+20C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1522-110A>G Single submitter
  • c.1522-166A>G Single submitter
  • c.1522-8_1522-7del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1643+19C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1643+20G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1644-10C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1720+16T>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1721-9T>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1760+134C>A Single submitter
  • c.1760+205G>C Single submitter
  • c.1760+261C>T Single submitter
  • c.1760+7A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1761-7A>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1862+7A>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1959+13G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1959+17A>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1960-12_1960-11dup Single submitter
  • c.1960-170_1960-169del Single submitter
  • c.1960-19_1960-18insC Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1960-20_1960-19insC Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1960-3C>T Single submitter
  • c.2066+11C>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.2067-18G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.2067-18G>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.2067-20G>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.2138+12A>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.2138+276C>T Single submitter
  • c.2139-16TG[4] Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.2139-279G>A Single submitter
  • c.2139-5_2139-3dup Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.2139-9G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.228+19A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.229-12_229-11insG Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.229-14_229-13insC Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.229-229G>A Single submitter
  • c.229-9_229-8insG Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.358+4T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.358+73A>T Single submitter
  • c.358+9_358+12del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.359-234A>G Single submitter
  • c.359-244C>G Single submitter
  • c.540+8_540+9del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.540+8A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.541-18T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.541-20dup Single submitter
  • c.701+14C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.701+15G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.701+16A>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.701+211A>G Single submitter
  • c.702-12G>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.702-86C>A Single submitter
  • c.812+11T>C Single submitter
  • c.812+156G>C Single submitter
  • c.812+270T>G Single submitter
  • c.812+9G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.813-201A>G Single submitter
  • c.813-222A>G Single submitter
  • c.87+17C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.87+49G>C Single submitter
  • c.87+8C>T Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.88-4A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.88-5dup Single submitter
  • c.88-9T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.993-140C>T Single submitter
  • c.-31-103A>T Single submitter
  • c.-61C>T Single submitter
  • p.Ala492= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ala493= Single submitter
  • p.Arg127= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Arg134= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Arg384Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Arg724Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Asn388Ser Single submitter Inborn genetic diseases
  • p.Asn474= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Asn548= Single submitter
  • p.Asn66= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Asn725= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Asp288= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Asp534= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Asp639= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Glu74= Single submitter
  • p.Glu87= Single submitter
  • p.Gly106= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Gly146= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Gly149= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Gly248= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Gly272= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Gly420= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Gly513= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.His213= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ile145= Single submitter
  • p.Ile501= Single submitter
  • p.Leu269= Single submitter
  • p.Leu276= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu316= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu392= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu446= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu468= Single submitter
  • p.Leu495= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu552= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu590= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu658= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu8= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Lys241= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Lys372= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Lys441= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Lys570Arg Single submitter
  • p.Phe298= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Pro182= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Pro363= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Pro528= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Pro90= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ser110= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ser243= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ser260= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ser315= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ser518= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ser531Leu Single submitter
  • p.Ser5Cys Single submitter
  • p.Thr278= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Thr517= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Thr595= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Thr599= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Thr77= Single submitter
  • p.Tyr354= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Val233= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Val402= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Val51= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Val68= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Val700= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1341-9T>C No assertion criteria TBK1-related disorder
  • p.Leu387= No assertion criteria TBK1-related disorder
  • p.Leu631= No assertion criteria TBK1-related disorder

Uncertain significance 276

  • c.2067-7T>A Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ala535Thr Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg117Gln Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg384Trp Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg405Cys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Arg405Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg573Cys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg573His Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Asn725Ser Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Asp453Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp50Ala Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Asp523Asn Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gln629His Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Glu355Lys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Glu540Val Multiple submitters Inborn genetic diseases ⚠
  • p.Glu55Lys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Glu642Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly722Asp Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.His312Arg Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.His502Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile14Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile207Thr Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile346Thr Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile353Thr Multiple submitters TBK1-related disorder ⚠
  • p.Ile353Val Multiple submitters TBK1-related disorder ⚠
  • p.Ile379Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile393Met Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile397Thr Multiple submitters TBK1-related disorder ⚠
  • p.Ile43Arg Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile73Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Leu631del Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Leu683Ser Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Leu98Ile Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Lys192Glu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Lys291Glu Multiple submitters Progressive spasticity
  • p.Lys29Asn Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Lys401Glu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ser151Cys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ser268Gly Multiple submitters encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 ⚠
  • p.Ser632Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Thr176Ile Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Thr331Ile Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Thr503Ile Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Thr664Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr79Arg Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Thr96Ala Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Tyr105Cys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Val152Leu Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Val606Ile Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Val726Ala Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • c.1340+2dup Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1340+3A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1521+3_1521+6del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1720+2dup Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1761-3C>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.1862+4del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.2066+1del Single submitter
  • c.2067-14_2067-11del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.2067-1G>C Single submitter
  • c.2067-7_2067-3del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.2067-9T>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.228+4A>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.358+5G>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.358+7T>C Single submitter
  • c.541-3T>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.813-3T>C Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • c.88-18TC[2] Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ala188Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ala214Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ala245Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ala321Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ala367Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ala415Asp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ala417Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ala429Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ala492Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ala492Val Single submitter ⚠
  • p.Ala576Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg127Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg134Cys Single submitter motor neuron disorder ⚠
  • p.Arg134His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg143His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg228Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg228His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg25Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg27Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg358Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg440Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg444Pro Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg47His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg573Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg627Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg713Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Arg724His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Asn129Asp Single submitter ⚠
  • p.Asn129Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Asn22Asp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Asn22His Single submitter ⚠
  • p.Asn455Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Asn455Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Asn489Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Asn63Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Asp118Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Asp135Gly Single submitter TBK1-related disorder ⚠
  • p.Asp183Gly Single submitter ⚠
  • p.Asp193Asn Single submitter ⚠
  • p.Asp407His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Asp409Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Asp50Asn Single submitter ⚠
  • p.Asp569Glu Single submitter ⚠
  • p.Asp586Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Asp720Gly Single submitter Inborn genetic diseases ⚠
  • p.Cys292Phe Single submitter Inborn genetic diseases ⚠
  • p.Cys471Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Cys471Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Gln169Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Gln195Pro Single submitter ⚠
  • p.Gln2Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gln436Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gln565His Single submitter Inborn genetic diseases ⚠
  • p.Gln655Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Glu147Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Glu165Asp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Glu178Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Glu253Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Glu351Lys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Glu437Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Glu476_Thr478del Single submitter
  • p.Glu57Gly Single submitter ⚠
  • p.Glu580del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Glu580Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Glu618del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Glu618Lys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Glu643Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Glu695fs Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Glu703Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly146Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly217Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly244Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly255Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly272Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly294Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly32Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly356Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly364Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly410Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly442Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly513Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly513Glu Single submitter ⚠
  • p.Gly530Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly541Asp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly699Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Gly92Glu Single submitter ⚠
  • p.His28Phe Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.His322Leu Single submitter encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 ⚠
  • p.His403Gln Single submitter Inborn genetic diseases ⚠
  • p.His538Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.His538Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.His593Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.His671Tyr Single submitter Inborn genetic diseases ⚠
  • p.His709_Leu711del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ile136Ser Single submitter ⚠
  • p.Ile141Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile145Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile14Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile237Val Single submitter ⚠
  • p.Ile257Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile284Asn Single submitter ⚠
  • p.Ile305Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile334Thr Single submitter ⚠
  • p.Ile334Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile37Phe Single submitter Inborn genetic diseases ⚠
  • p.Ile37Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile37Val Single submitter ⚠
  • p.Ile390Leu Single submitter ⚠
  • p.Ile418Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile43Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile472Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile488Ser Single submitter ⚠
  • p.Ile515Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile522Met Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile640Val Single submitter Inborn genetic diseases ⚠
  • p.Ile669Met Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile710Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile85Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ile85Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Leu113Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Leu269Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Leu399Phe Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Leu399Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu532Pro Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Leu59Trp Single submitter ⚠
  • p.Leu626Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Leu683= Single submitter
  • p.Leu693Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Leu717fs Single submitter
  • p.Leu723Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Leu729Phe Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Lys197Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Lys241Asn Single submitter ⚠
  • p.Lys441Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Lys484Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Lys584Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Lys584Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Lys670Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys692Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Lys694del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Met142Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Met184Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Met1Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Met309Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Met559Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Met690Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Met719Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Phe601Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Pro101Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Pro48Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Pro544Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ser12Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ser247Pro Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ser315Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Ser383Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ser398Phe Single submitter ⚠
  • p.Ser511Phe Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ser527Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ser5Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ser667Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Ser679Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Thr210Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Thr302Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Thr331= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Thr343Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Thr374Ala Single submitter ⚠
  • p.Thr419Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Thr431Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Thr517Ala Single submitter TBK1-related disorder ⚠
  • p.Thr517Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr651Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Thr657Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Thr77Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Thr79Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr79Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Trp445Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Tyr179His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Tyr394Asp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Tyr406Cys Single submitter ⚠
  • p.Tyr564Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Tyr677Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Val144Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Val171Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Val189Met Single submitter ⚠
  • p.Val249Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Val265Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Val339Leu Single submitter Inborn genetic diseases ⚠
  • p.Val421_Val422insGlyVal Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Val421Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Val458Ile Single submitter Inborn genetic diseases ⚠
  • p.Val465Met Single submitter Inborn genetic diseases ⚠
  • p.Val481= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Val481Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Val49= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • p.Val49Gly Single submitter ⚠
  • p.Val58Met Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Val726Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • p.Val97Asp Single submitter hereditary spastic paraplegia 8 ⚠
  • p.Val97Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ⚠
  • c.1341-10_1341-6del No assertion criteria TBK1-related disorder
  • p.Arg444Gln No assertion criteria TBK1-related disorder ⚠
  • p.Gly149Val No assertion criteria TBK1-related disorder ⚠
  • p.Gly529Asp No assertion criteria TBK1-related disorder ⚠
  • p.Leu34Val No assertion criteria TBK1-related disorder ⚠
  • p.Leu490Gln No assertion criteria TBK1-related disorder ⚠
  • p.Leu98Ser No assertion criteria TBK1-related disorder ⚠
  • p.Ser527Phe No assertion criteria TBK1-related disorder ⚠
  • p.Tyr564= No assertion criteria TBK1-related disorder
  • p.Val23Ile No assertion criteria TBK1-related disorder ⚠