"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 996781	NM_002087.4(GRN):c.25del (p.Ala9fs)	GRN (A9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1184870	NM_002087.4(GRN):c.78C>A (p.Cys26Ter)	GRN (C26*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1697215	NM_002087.4(GRN):c.599-2A>G	GRN	Single nucleotide variant (splice acceptor variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GPathogenic
Select item 98246	NM_002087.4(GRN):c.675_676del (p.Ser226fs)	GRN (S226fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GPathogenic
Select item 98150	NM_002087.4(GRN):c.709-2A>G	GRN, LOC125177489	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 98177	NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)	GRN (R418*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 10 +3 more	GPathogenic

ClinVar