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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TARDBP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
TARDBP
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Duplication
(intron variant)
not provided
+1 more
GBenign
TARDBP
(I383V)
Single nucleotide variant
(missense variant)
TARDBP-related frontotemporal dementia
+3 more
GPathogenic/Likely pathogenic
GRN
(R418*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 11
+3 more
GPathogenic
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