ClinVar for MedGen (Select 1646997) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1621042	NM_013254.4(TBK1):c.813-7A>C	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GConflicting classifications of pathogenicity
Select item 1576197	NM_013254.4(TBK1):c.541-9dup	TBK1	Duplication (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GBenign/Likely benign
Select item 1427802	NM_013254.4(TBK1):c.1150C>T (p.Arg384Trp)	TBK1 (R384W)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GUncertain significance
Select item 930748	NM_013254.4(TBK1):c.965A>T (p.His322Leu)	TBK1 (H322L)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	GUncertain significance
Select item 828157	NM_013254.4(TBK1):c.400C>T (p.Arg134Cys)	TBK1 (R134C)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	GUncertain significance
Select item 807707	NM_013254.4(TBK1):c.992+1G>A	TBK1	Single nucleotide variant (splice donor variant)	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 +2 more	GPathogenic
Select item 772806	NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe)	TBK1 (L613F)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 +2 more	GBenign/Likely benign
Select item 664607	NM_013254.4(TBK1):c.802A>G (p.Ser268Gly)	TBK1 (S268G)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GUncertain significance
Select item 542552	NM_013254.4(TBK1):c.1387_1388del (p.Glu463fs)	TBK1 (E463fs)	Deletion (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GPathogenic/Likely pathogenic
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 495317	NM_013254.4(TBK1):c.619A>G (p.Ile207Val)	TBK1 (I207V)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	Grisk factor
Select item 495316	NM_013254.4(TBK1):c.149A>C (p.Asp50Ala)	TBK1 (D50A)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 495315	NM_013254.4(TBK1):c.476G>C (p.Gly159Ala)	TBK1 (G159A)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	Grisk factor