Related gene-specific medical variations for Gene (Select 2896) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067998	NM_002087.4(GRN):c.124T>G (p.Cys42Gly)	GRN (C42G)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GUncertain significance
Select item 2937002	NM_002087.4(GRN):c.724G>C (p.Asp242His)	GRN, LOC125177489 (D242H)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 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 2921581	NM_002087.4(GRN):c.694T>C (p.Cys232Arg)	GRN, LOC125177489 (C232R)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2684293	NM_002087.4(GRN):c.837G>A (p.Val279=)	GRN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2682215	NM_002087.4:c.(?_-41)_(-8+1_-7-1)del	GRN	Deletion	not specified	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 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 2148556	NM_002087.4(GRN):c.708+20C>T	GRN, LOC125177489	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 2127919	NM_002087.4(GRN):c.711del (p.Thr238fs)	GRN, LOC125177489 (T238fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GPathogenic
Select item 2078851	NM_002087.4(GRN):c.691T>C (p.Cys231Arg)	GRN, LOC125177489 (C231R)	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)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 1929887	NM_002087.4(GRN):c.713C>T (p.Thr238Ile)	GRN, LOC125177489 (T238I)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GUncertain significance
Select item 1706838	NM_002087.4(GRN):c.-8+236G>A	GRN, LOC130060979	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667822	NM_002087.4(GRN):c.709-8C>T	GRN, LOC125177489	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 1585819	NM_002087.4(GRN):c.708+15G>A	GRN, LOC125177489	Single nucleotide variant (intron 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)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 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 1324516	NM_002087.4(GRN):c.139-2A>G	GRN	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 1184870	NM_002087.4(GRN):c.78C>A (p.Cys26Ter)	GRN (C26*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 996781	NM_002087.4(GRN):c.25del (p.Ala9fs)	GRN (A9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 995195	NM_002087.4(GRN):c.1420_1421del (p.Cys474fs)	GRN (C474fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 931001	NM_002087.4(GRN):c.7A>G (p.Thr3Ala)	GRN (T3A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11	GUncertain significance
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 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 805123	NM_002087.4(GRN):c.745C>T (p.Gln249Ter)	GRN, LOC125177489 (Q249*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 778671	NM_002087.4(GRN):c.690C>T (p.Gly230=)	GRN, LOC125177489	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GLikely benign
Select item 706730	NM_002087.4(GRN):c.723C>T (p.Ser241=)	GRN, LOC125177489	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GLikely benign
Select item 704111	NM_002087.4(GRN):c.708+8A>T	GRN, LOC125177489	Single nucleotide variant (intron variant)	GRN-related disorder +3 more	GBenign/Likely benign
Select item 617461	NP_002078.1(GRN):p.Ser449_Thr455del	GRN	Protein only	Frontotemporal dementia	GLikely pathogenic
Select item 586221	NM_002087.4(GRN):c.708+6_708+9del	GRN, LOC125177489	Microsatellite (splice donor variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 586218	NM_002087.3(GRN):c.-203G>C	GRN	Single nucleotide variant	not provided	GUncertain significance
Select item 447478	NM_002087.4(GRN):c.705C>A (p.Pro235=)	GRN, LOC125177489	Single nucleotide variant (synonymous variant)	GRN-related disorder +4 more	GBenign/Likely benign
Select item 203460	NM_002087.4(GRN):c.708+1G>A	GRN, LOC125177489	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 98247	NM_002087.4(GRN):c.1095_1096del (p.Pro365_Cys366insTer)	GRN	Deletion (frameshift variant)	not provided	Gnot provided
Select item 98245	NM_002087.4(GRN):c.380_381del (p.Pro127fs)	GRN (P127fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 98192	NM_002087.4(GRN):c.1666C>T (p.Arg556Cys)	GRN (R556C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98190	NM_002087.4(GRN):c.1623G>C (p.Trp541Cys)	GRN (W541C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98186	NM_002087.4(GRN):c.1422C>T (p.Cys474=)	GRN	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98183	NM_002087.4(GRN):c.1395dup (p.Cys466fs)	GRN (C466fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 98175	NM_002087.4(GRN):c.1231_1232dup (p.Val411_Ala412insTer)	GRN	Microsatellite (frameshift variant)	not provided	Gnot provided
Select item 98174	NM_002087.4(GRN):c.1231_1232del (p.Val411fs)	GRN (V411fs)	Microsatellite (frameshift variant)	not provided	Gnot provided
Select item 98173	NM_002087.4(GRN):c.1201C>T (p.Gln401Ter)	GRN (Q401*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 98172	NM_002087.4(GRN):c.1176A>C (p.Pro392=)	GRN	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98171	NM_002087.4(GRN):c.1157G>A (p.Trp386Ter)	GRN (W386*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 98168	NM_002087.4(GRN):c.1009C>T (p.Gln337Ter)	GRN (Q337*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 98166	NM_002087.4(GRN):c.996G>A (p.Lys332=)	GRN	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98164	NM_002087.4(GRN):c.942C>A (p.Cys314Ter)	GRN (C314*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 98161	NM_002087.4(GRN):c.910_911insTG (p.Trp304fs)	GRN (W304fs)	Insertion (frameshift variant)	not provided	Gnot provided
Select item 98160	NM_002087.4(GRN):c.909del (p.Trp304fs)	GRN (W304fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 98156	NM_002087.4(GRN):c.835_835+1insCTGA	GRN	Insertion (splice donor variant)	not provided	Gnot provided
Select item 98154	NM_002087.4(GRN):c.781C>A (p.Leu261Ile)	GRN (L261I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98151	NM_002087.4(GRN):c.743C>T (p.Pro248Leu)	GRN, LOC125177489 (P248L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
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 98149	NM_002087.4(GRN):c.708+1G>C	GRN, LOC125177489	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GPathogenic
Select item 98148	NM_002087.4(GRN):c.708C>T (p.Asn236=)	GRN, LOC125177489	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 98147	NM_002087.4(GRN):c.698C>A (p.Pro233Gln)	LOC125177489, GRN (P233Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 98146	NM_002087.4(GRN):c.658A>T (p.Thr220Ser)	GRN (T220S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98141	NM_002087.4(GRN):c.463-1G>A	GRN	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 98136	NM_002087.4(GRN):c.361del (p.Val121fs)	GRN (V121fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 98133	NM_002087.4(GRN):c.317G>A (p.Ser106Asn)	GRN (S106N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98132	NM_002087.4(GRN):c.313T>C (p.Cys105Arg)	GRN (C105R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98128	NM_002087.4(GRN):c.158T>C (p.Leu53Pro)	GRN (L53P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98122	NM_002087.4(GRN):c.87_90dup (p.Cys31fs)	GRN (C31fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 98121	NM_002087.4(GRN):c.63_64insC (p.Asp22fs)	GRN (D22fs)	Insertion (frameshift variant)	not provided	Gnot provided
Select item 98118	NM_002087.4(GRN):c.-8+3A>T	GRN	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 91940	NM_002087.4(GRN):c.1626C>T (p.Ala542=)	GRN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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

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Links from Gene

Items: 69