"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 98120	NM_002087.4(GRN):c.55C>T (p.Arg19Trp)	GRN (R19W)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +4 more	GBenign
Select item 98123	NM_002087.4(GRN):c.99C>T (p.Asp33=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +4 more	GBenign/Likely benign
Select item 98129	NM_002087.4(GRN):c.243del (p.Ser82fs)	GRN (S82fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 196337	NM_002087.4(GRN):c.264+7G>A	GRN	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 98131	NM_002087.4(GRN):c.279G>A (p.Gly93=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 16007	NM_002087.4(GRN):c.373C>T (p.Gln125Ter)	GRN (Q125*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 98137	NM_002087.4(GRN):c.384T>C (p.Asp128=)	GRN	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 890944	NM_002087.4(GRN):c.709-12G>C	GRN, LOC125177489	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GConflicting classifications of pathogenicity
Select item 258553	NM_002087.4(GRN):c.835+7G>A	GRN	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GBenign
Select item 98159	NM_002087.4(GRN):c.903G>A (p.Ser301=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +4 more	GBenign/Likely benign
Select item 258551	NM_002087.4(GRN):c.1227G>A (p.Thr409=)	GRN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 98176	NM_002087.4(GRN):c.1241G>T (p.Gly414Val)	GRN (G414V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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
Select item 98189	NM_002087.4(GRN):c.1544G>C (p.Gly515Ala)	GRN (G515A)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GBenign/Likely benign