LOC125177489[gene] - ClinVar

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

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 778671	NM_002087.4(GRN):c.690C>T (p.Gly230=)	GRN, LOC125177489	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GLikely benign
Select item 2078851	NM_002087.4(GRN):c.691T>C (p.Cys231Arg)	GRN, LOC125177489 (C231R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2921581	NM_002087.4(GRN):c.694T>C (p.Cys232Arg)	GRN, LOC125177489 (C232R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 98147	NM_002087.4(GRN):c.698C>A (p.Pro233Gln)	GRN, LOC125177489 (P233Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1425831	NM_002087.4(GRN):c.701T>G (p.Met234Arg)	GRN, LOC125177489 (M234R)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 447478	NM_002087.4(GRN):c.705C>A (p.Pro235=)	GRN, LOC125177489	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 98148	NM_002087.4(GRN):c.708C>T (p.Asn236=)	GRN, LOC125177489	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 1472668	NM_002087.4(GRN):c.708+2dup	GRN, LOC125177489	Duplication (splice donor variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 586221	NM_002087.4(GRN):c.708+6_708+9del	GRN, LOC125177489	Microsatellite (splice donor variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GPathogenic/Likely pathogenic
Select item 203460	NM_002087.4(GRN):c.708+1G>A	GRN, LOC125177489	Single nucleotide variant (splice donor variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GPathogenic/Likely pathogenic
Select item 98149	NM_002087.4(GRN):c.708+1G>C	GRN, LOC125177489	Single nucleotide variant (splice donor variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GPathogenic
Select item 704111	NM_002087.4(GRN):c.708+8A>T	GRN, LOC125177489	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1585819	NM_002087.4(GRN):c.708+15G>A	GRN, LOC125177489	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2148556	NM_002087.4(GRN):c.708+20C>T	GRN, LOC125177489	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely 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 1667822	NM_002087.4(GRN):c.709-8C>T	GRN, LOC125177489	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 807613	NM_002087.4(GRN):c.709-4_713del	GRN, LOC125177489	Deletion (splice acceptor variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	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 29743	NM_002087.4(GRN):c.709-1G>A	GRN, LOC125177489	Single nucleotide variant (splice acceptor variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GPathogenic
Select item 2127919	NM_002087.4(GRN):c.711del (p.Thr238fs)	LOC125177489, GRN (T238fs)	Deletion (frameshift variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GPathogenic
Select item 1929887	NM_002087.4(GRN):c.713C>T (p.Thr238Ile)	GRN, LOC125177489 (T238I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GUncertain significance
Select item 2925727	NM_002087.4(GRN):c.716G>T (p.Cys239Phe)	GRN, LOC125177489 (C239F)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 706730	NM_002087.4(GRN):c.723C>T (p.Ser241=)	GRN, LOC125177489	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GLikely benign
Select item 2937002	NM_002087.4(GRN):c.724G>C (p.Asp242His)	GRN, LOC125177489 (D242H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2285440	NM_002087.4(GRN):c.724G>A (p.Asp242Asn)	GRN, LOC125177489 (D242N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1303115	NM_002087.4(GRN):c.740G>A (p.Cys247Tyr)	GRN, LOC125177489 (C247Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421213	NM_002087.4(GRN):c.741C>T (p.Cys247=)	GRN, LOC125177489	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 98151	NM_002087.4(GRN):c.743C>T (p.Pro248Leu)	GRN, LOC125177489 (P248L)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2060467	NM_002087.4(GRN):c.744C>G (p.Pro248=)	GRN, LOC125177489	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 805123	NM_002087.4(GRN):c.745C>T (p.Gln249Ter)	GRN, LOC125177489 (Q249*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35