"Ambry Genetics"[submitter] AND "TBK1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2302506	NM_013254.4(TBK1):c.109A>T (p.Ile37Phe)	TBK1 (I37F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174802	NM_013254.4(TBK1):c.235A>G (p.Thr79Ala)	TBK1 (T79A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324780	NM_013254.4(TBK1):c.1209T>A (p.His403Gln)	TBK1 (H403Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304937	NM_013254.4(TBK1):c.1213C>T (p.Arg405Cys)	TBK1 (R405C)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GUncertain significance
Select item 655436	NM_013254.4(TBK1):c.1505A>G (p.His502Arg)	TBK1 (H502R)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GUncertain significance
Select item 3174800	NM_013254.4(TBK1):c.1550C>G (p.Thr517Ser)	TBK1 (T517S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 937635	NM_013254.4(TBK1):c.1619A>T (p.Glu540Val)	TBK1 (E540V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3174801	NM_013254.4(TBK1):c.1918A>G (p.Ile640Val)	TBK1 (I640V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372792	NM_013254.4(TBK1):c.1924G>A (p.Glu642Lys)	TBK1 (E642K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance