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Links from OMIM

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
STAT1
(V266I +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
IRF3
(R285Q +2 more)
Single nucleotide variant
(missense variant +2 more)
IRF3-related disorder
+1 more
GUncertain significance; risk factor
AP1S3
(R33W)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
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