"Clinical Genetics, Academic Medical Center"[submitter] AND "TBK1"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 475941	NM_013254.4(TBK1):c.66T>C (p.Asn22=)	TBK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 403521	NM_013254.4(TBK1):c.229-4dup	TBK1	Duplication (intron variant)	not provided +3 more	GBenign
Select item 522363	NM_013254.4(TBK1):c.541-9del	TBK1	Deletion (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GBenign/Likely benign
Select item 425012	NM_013254.4(TBK1):c.871A>G (p.Lys291Glu)	TBK1 (K291E)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +2 more	GUncertain significance
Select item 403522	NM_013254.4(TBK1):c.978T>A (p.Ile326=)	TBK1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 475935	NM_013254.4(TBK1):c.1391T>C (p.Val464Ala)	TBK1 (V464A)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, P +2 more	GBenign/Likely benign

ClinVar