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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBK1
Single nucleotide variant
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
+1 more
GConflicting classifications of pathogenicity
TBK1
Duplication
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
+1 more
GBenign/Likely benign
TBK1
(R384W)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
+1 more
GUncertain significance
TBK1
(H322L)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
GUncertain significance
TBK1
(R134C)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
GUncertain significance
TBK1
Single nucleotide variant
(splice donor variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
+2 more
GPathogenic
TBK1
(L613F)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
+1 more
GBenign/Likely benign
TBK1
(S268G)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
+1 more
GUncertain significance
TBK1
(E463fs)
Deletion
(frameshift variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
GPathogenic
TBK1
Deletion
(intron variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
+1 more
GBenign/Likely benign
TBK1
(I207V)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
Grisk factor
TBK1
(D50A)
Single nucleotide variant
(missense variant)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
GUncertain significance
TBK1
(G159A)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
Grisk factor
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