C0338451[trait identifier] AND "Translational Genetics in Neurodegener - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203459	NM_002087.4(GRN):c.87dup (p.Cys30fs)	GRN (C30fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GPathogenic
Select item 203455	NM_002087.4(GRN):c.462+1G>C	GRN	Single nucleotide variant (splice donor variant)	Frontotemporal dementia	GPathogenic
Select item 203460	NM_002087.4(GRN):c.708+1G>A	LOC125177489, GRN	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GPathogenic/Likely pathogenic
Select item 203456	NM_002087.4(GRN):c.882T>G (p.Tyr294Ter)	GRN (Y294*)	Single nucleotide variant (nonsense)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GPathogenic
Select item 203457	NM_002087.4(GRN):c.1212C>A (p.Cys404Ter)	GRN (C404*)	Single nucleotide variant (nonsense)	Frontotemporal dementia	GPathogenic
Select item 203458	NM_002087.4(GRN):c.1246dup (p.Cys416fs)	GRN (C416fs)	Duplication (frameshift variant)	Frontotemporal dementia	GPathogenic

ClinVar