2896[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +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 323526	NM_002087.3(GRN):c.-212G>A	GRN	Single nucleotide variant	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GUncertain significance
Select item 586218	NM_002087.3(GRN):c.-203G>C	GRN	Single nucleotide variant	not provided	GUncertain significance
Select item 323527	NM_002087.3(GRN):c.-179G>C	GRN	Single nucleotide variant	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GUncertain significance
Select item 323528	NM_002087.3(GRN):c.-173C>T	GRN	Single nucleotide variant	Frontotemporal dementia	GUncertain significance
Select item 586215	NM_002087.3(GRN):c.-100A>G	GRN	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 323529	NM_002087.3(GRN):c.-72G>T	GRN	Single nucleotide variant	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GBenign/Likely benign
Select item 447474	NM_002087.3(GRN):c.-56T>G	GRN	Single nucleotide variant	not specified	GBenign
Select item 323530	NM_002087.3(GRN):c.-45C>G	GRN	Single nucleotide variant	not specified +1 more	GLikely benign
Select item 586220	NM_002087.4(GRN):c.-38T>C	GRN	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 888679	NM_002087.4(GRN):c.-22C>T	GRN	Single nucleotide variant (5 prime UTR variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GUncertain significance
Select item 558915	NM_002087.4(GRN):c.-14G>C	GRN	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 888680	NM_002087.4(GRN):c.-8+3A>C	GRN	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GUncertain significance
Select item 546798	NM_002087.4(GRN):c.-8+3A>G	GRN	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 98118	NM_002087.4(GRN):c.-8+3A>T	GRN	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1979860	NM_002087.4(GRN):c.-8+5G>A	GRN	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 98119	NM_002087.4(GRN):c.-8+5G>C	GRN	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GPathogenic
Select item 3046828	NM_002087.4(GRN):c.-8+13C>A	GRN	Single nucleotide variant (intron variant)	GRN-related disorder	GLikely benign
Select item 1612643	NM_002087.4(GRN):c.-8+46G>T	GRN	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GBenign
Select item 1224905	NM_002087.4(GRN):c.-8+50dup	GRN	Duplication (intron variant)	not provided	GBenign
Select item 1706838	NM_002087.4(GRN):c.-8+236G>A	GRN, LOC130060979	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241013	NM_002087.4(GRN):c.-7-320C>G	GRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197342	NM_002087.4(GRN):c.-7-75A>G	GRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1352426	NM_002087.4(GRN):c.1A>G (p.Met1Val)	GRN (M1V)	Single nucleotide variant (missense variant +1 more)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GPathogenic
Select item 16008	NM_002087.4(GRN):c.2T>C (p.Met1Thr)	GRN (M1T)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 11 +1 more	GPathogenic
Select item 16009	NM_002087.4(GRN):c.3G>A (p.Met1Ile)	GRN (M1I)	Single nucleotide variant (missense variant +1 more)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GPathogenic
Select item 2928811	NM_002087.4(GRN):c.5G>A (p.Trp2Ter)	GRN (W2*)	Single nucleotide variant (nonsense)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GPathogenic
Select item 447477	NM_002087.4(GRN):c.6G>A (p.Trp2Ter)	GRN (W2*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 2522313	NM_002087.4(GRN):c.8C>T (p.Thr3Ile)	GRN (T3I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 655044	NM_002087.4(GRN):c.8C>G (p.Thr3Ser)	GRN (T3S)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2924078	NM_002087.4(GRN):c.18C>T (p.Ser6=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 1962903	NM_002087.4(GRN):c.18C>G (p.Ser6Arg)	GRN (S6R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2099089	NM_002087.4(GRN):c.19T>G (p.Trp7Gly)	GRN (W7G)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 594636	NM_002087.4(GRN):c.22G>A (p.Val8Met)	GRN (V8M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1792224	NM_002087.4(GRN):c.24G>A (p.Val8=)	GRN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 996781	NM_002087.4(GRN):c.25del (p.Ala9fs)	GRN (A9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2065662	NM_002087.4(GRN):c.26C>T (p.Ala9Val)	GRN (A9V)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 16013	NM_002087.4(GRN):c.26C>A (p.Ala9Asp)	GRN (A9D)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GPathogenic
Select item 2100475	NM_002087.4(GRN):c.30A>C (p.Leu10Phe)	GRN (L10F)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 1453069	NM_002087.4(GRN):c.39dup (p.Leu14fs)	GRN (L14fs)	Duplication (frameshift variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GPathogenic
Select item 1029556	NM_002087.4(GRN):c.38G>C (p.Gly13Ala)	GRN (G13A)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GUncertain significance
Select item 487358	NM_002087.4(GRN):c.42G>A (p.Leu14=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GBenign/Likely benign
Select item 2148688	NM_002087.4(GRN):c.47C>T (p.Ala16Val)	GRN (A16V)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2074271	NM_002087.4(GRN):c.50G>C (p.Gly17Ala)	GRN (G17A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 1687738	NM_002087.4(GRN):c.52A>G (p.Thr18Ala)	GRN (T18A)	Single nucleotide variant (missense variant)	Parkinsonian disorder	GPathogenic
Select item 451234	NM_002087.4(GRN):c.53C>T (p.Thr18Met)	GRN (T18M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 757878	NM_002087.4(GRN):c.54G>A (p.Thr18=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GLikely benign
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 1430225	NM_002087.4(GRN):c.56G>A (p.Arg19Gln)	GRN (R19Q)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 890386	NM_002087.4(GRN):c.57G>T (p.Arg19=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GConflicting classifications of pathogenicity
Select item 1019148	NM_002087.4(GRN):c.58T>C (p.Cys20Arg)	GRN (C20R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 1392782	NM_002087.4(GRN):c.62C>T (p.Pro21Leu)	GRN (P21L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 98121	NM_002087.4(GRN):c.63_64insC (p.Asp22fs)	GRN (D22fs)	Insertion (frameshift variant)	not provided	Gnot provided
Select item 1586473	NM_002087.4(GRN):c.69T>C (p.Gly23=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 540277	NM_002087.4(GRN):c.80dup (p.Val28fs)	GRN (V28fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GPathogenic
Select item 1184870	NM_002087.4(GRN):c.78C>A (p.Cys26Ter)	GRN (C26*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 98122	NM_002087.4(GRN):c.87_90dup (p.Cys31fs)	GRN (C31fs)	Duplication (frameshift variant)	not provided	Gnot provided
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 2189757	NM_002087.4(GRN):c.86C>T (p.Ala29Val)	GRN (A29V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2927281	NM_002087.4(GRN):c.87C>A (p.Ala29=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 16010	NM_002087.4(GRN):c.93_96dup (p.Asp33fs)	GRN (D33fs)	Duplication (frameshift variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GPathogenic
Select item 2035460	NM_002087.4(GRN):c.96G>C (p.Leu32=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 890387	NM_002087.4(GRN):c.99C>A (p.Asp33Glu)	GRN (D33E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 98125	NM_002087.4(GRN):c.102del (p.Gly35fs)	GRN (G35fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GPathogenic
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 1052582	NM_002087.4(GRN):c.100C>T (p.Pro34Ser)	GRN (P34S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 323531	NM_002087.4(GRN):c.100C>G (p.Pro34Ala)	GRN (P34A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2941451	NM_002087.4(GRN):c.101C>A (p.Pro34His)	GRN (P34H)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 1755347	NM_002087.4(GRN):c.101C>T (p.Pro34Leu)	GRN (P34L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 98124	NM_002087.4(GRN):c.102C>T (p.Pro34=)	GRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 976698	NM_002087.4(GRN):c.103G>A (p.Gly35Arg)	GRN (G35R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GConflicting classifications of pathogenicity
Select item 2946110	NM_002087.4(GRN):c.108A>T (p.Gly36=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 1504449	NM_002087.4(GRN):c.110C>T (p.Ala37Val)	GRN (A37V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2028731	NM_002087.4(GRN):c.118_121dup (p.Cys41Ter)	GRN (C41*)	Duplication (nonsense)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GPathogenic
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 2942052	NM_002087.4(GRN):c.128_129insCC (p.Pro44fs)	GRN (P44fs)	Insertion (frameshift variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GPathogenic
Select item 1517954	NM_002087.4(GRN):c.128G>A (p.Arg43His)	GRN (R43H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1613850	NM_002087.4(GRN):c.129T>C (p.Arg43=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 98126	NM_002087.4(GRN):c.138+1G>A	GRN	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GPathogenic
Select item 3242000	NM_002087.4(GRN):c.138+2T>C	GRN	Single nucleotide variant (splice donor variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GLikely pathogenic
Select item 2946601	NM_002087.4(GRN):c.138+13C>G	GRN	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 2931298	NM_002087.4(GRN):c.139-18T>C	GRN	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2924395	NM_002087.4(GRN):c.139-13C>T	GRN	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2138929	NM_002087.4(GRN):c.139-12C>G	GRN	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 1995076	NM_002087.4(GRN):c.139-10_139-7del	GRN	Deletion (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 588760	NM_002087.4(GRN):c.139-3T>C	GRN	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GConflicting classifications of pathogenicity
Select item 1324516	NM_002087.4(GRN):c.139-2A>G	GRN	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 569364	NM_002087.4(GRN):c.139G>A (p.Asp47Asn)	GRN (D47N)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 807610	NM_002087.4(GRN):c.146G>A (p.Trp49Ter)	GRN (W49*)	Single nucleotide variant (nonsense)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GPathogenic
Select item 2943825	NM_002087.4(GRN):c.147G>C (p.Trp49Cys)	GRN (W49C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2927804	NM_002087.4(GRN):c.149C>T (p.Pro50Leu)	GRN (P50L)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 98127	NM_002087.4(GRN):c.154del (p.Thr52fs)	GRN (T52fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 588452	NM_002087.4(GRN):c.157C>G (p.Leu53Val)	GRN (L53V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 1419485	NM_002087.4(GRN):c.160A>G (p.Ser54Gly)	GRN (S54G)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance

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