"Centre for Genomic and Experimental Medicine, University of Edinburgh - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 266068	NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)	TBK1 (S151F)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GConflicting classifications of pathogenicity
Select item 266069	NM_013254.4(TBK1):c.829C>G (p.Leu277Val)	TBK1 (L277V)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +2 more	GConflicting classifications of pathogenicity
Select item 266070	NM_013254.4(TBK1):c.1135A>G (p.Ile379Val)	TBK1 (I379V)	Single nucleotide variant (missense variant)	Motor neuron disease	GUncertain significance
Select item 266072	NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter)	TBK1 (R444*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic; other
Select item 266066	NM_013254.4(TBK1):c.1432del (p.Thr478fs)	TBK1 (T478fs)	Deletion (frameshift variant)	Motor neuron disease	Gother
Select item 266071	NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile)	TBK1 (T503I)	Single nucleotide variant (missense variant)	Motor neuron disease +1 more	GUncertain significance
Select item 266067	NM_013254.4(TBK1):c.2115_2127del (p.Glu706fs)	TBK1 (E706fs)	Deletion (frameshift variant)	Motor neuron disease	Gother

ClinVar