"GeneDx"[submitter] AND "GRN"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 451234	NM_002087.4(GRN):c.53C>T (p.Thr18Met)	GRN (T18M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 98120	NM_002087.4(GRN):c.55C>T (p.Arg19Trp)	GRN (R19W)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 890387	NM_002087.4(GRN):c.99C>A (p.Asp33Glu)	GRN (D33E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GConflicting classifications of pathogenicity
Select item 98125	NM_002087.4(GRN):c.102del (p.Gly35fs)	GRN (G35fs)	Deletion (frameshift variant)	not provided +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 1517954	NM_002087.4(GRN):c.128G>A (p.Arg43His)	GRN (R43H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 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 586219	NM_002087.4(GRN):c.228C>T (p.Thr76=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +3 more	GBenign/Likely benign
Select item 588453	NM_002087.4(GRN):c.238A>T (p.Thr80Ser)	GRN (T80S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1327773	NM_002087.4(GRN):c.254C>T (p.Pro85Leu)	GRN (P85L)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GUncertain significance
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 558916	NM_002087.4(GRN):c.264+21G>A	GRN	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GBenign
Select item 1215483	NM_002087.4(GRN):c.276C>T (p.Cys92=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +3 more	GLikely benign
Select item 1309387	NM_002087.4(GRN):c.280G>A (p.Asp94Asn)	GRN (D94N)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GUncertain significance
Select item 98134	NM_002087.4(GRN):c.328C>T (p.Arg110Ter)	GRN (R110*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 11 +2 more	GPathogenic
Select item 1193649	NM_002087.4(GRN):c.349+32G>C	GRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 803426	NM_002087.4(GRN):c.350-50_350-47dup	GRN	Duplication (intron variant)	not provided +1 more	GBenign
Select item 98135	NM_002087.4(GRN):c.359C>A (p.Ser120Tyr)	GRN (S120Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 949246	NM_002087.4(GRN):c.383_386del (p.Asp128fs)	GRN (D128fs)	Deletion (frameshift variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GPathogenic/Likely pathogenic
Select item 98138	NM_002087.4(GRN):c.384_387del (p.Gln130fs)	GRN (Q130fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 98137	NM_002087.4(GRN):c.384T>C (p.Asp128=)	GRN	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 16011	NM_002087.4(GRN):c.388_391del (p.Gln130fs)	GRN (Q130fs)	Deletion (frameshift variant)	GRN-related disorder +4 more	GPathogenic
Select item 589035	NM_002087.4(GRN):c.393C>G (p.Phe131Leu)	GRN (F131L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 589965	NM_002087.4(GRN):c.415T>C (p.Cys139Arg)	GRN (C139R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 645598	NM_002087.4(GRN):c.442G>A (p.Gly148Arg)	GRN (G148R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 558917	NM_002087.4(GRN):c.462+24G>A	GRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2430617	NM_002087.4(GRN):c.530_543del (p.Arg177fs)	GRN (R177fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 98144	NM_002087.4(GRN):c.545C>T (p.Thr182Met)	GRN (T182M)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GBenign/Likely benign
Select item 258552	NM_002087.4(GRN):c.546G>A (p.Thr182=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GBenign/Likely benign
Select item 3342439	NM_002087.4(GRN):c.596C>T (p.Ala199Val)	GRN (A199V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1300871	NM_002087.4(GRN):c.599-54G>A	GRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 +2 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 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 +1 more	GPathogenic
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 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 447479	NM_002087.4(GRN):c.898C>T (p.Gln300Ter)	GRN (Q300*)	Single nucleotide variant (nonsense)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GPathogenic
Select item 98165	NM_002087.4(GRN):c.970G>A (p.Ala324Thr)	GRN (A324T)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GConflicting classifications of pathogenicity
Select item 3377827	NM_002087.4(GRN):c.1030T>C (p.Trp344Arg)	GRN (W344R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447470	NM_002087.4(GRN):c.1072C>T (p.Gln358Ter)	GRN (Q358*)	Single nucleotide variant (nonsense)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GPathogenic/Likely pathogenic
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 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 3365609	NM_002087.4(GRN):c.1274G>A (p.Gly425Glu)	GRN (G425E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451952	NM_002087.4(GRN):c.1288C>G (p.Pro430Ala)	GRN (P430A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 98180	NM_002087.4(GRN):c.1297C>T (p.Arg433Trp)	GRN (R433W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 3340778	NM_002087.4(GRN):c.1317del (p.Arg440fs)	GRN (R440fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3102718	NM_002087.4(GRN):c.1327G>A (p.Gly443Ser)	GRN (G443S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2580517	NM_002087.4(GRN):c.1330T>C (p.Cys444Arg)	GRN (C444R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343681	NM_002087.4(GRN):c.1345_1365del (p.Ser449_Thr455del)	GRN	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 449453	NM_002087.4(GRN):c.1352C>T (p.Pro451Leu)	GRN (P451L)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GUncertain significance
Select item 98182	NM_002087.4(GRN):c.1373C>T (p.Pro458Leu)	GRN (P458L)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GUncertain significance
Select item 16014	NM_002087.4(GRN):c.1477C>T (p.Arg493Ter)	GRN (R493*)	Single nucleotide variant (nonsense)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GPathogenic
Select item 587957	NM_002087.4(GRN):c.1540G>A (p.Val514Met)	GRN (V514M)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +3 more	GUncertain significance
Select item 98189	NM_002087.4(GRN):c.1544G>C (p.Gly515Ala)	GRN (G515A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 588635	NM_002087.4(GRN):c.1555G>A (p.Val519Met)	GRN (V519M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1303116	NM_002087.4(GRN):c.1562G>A (p.Cys521Tyr)	GRN (C521Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1313507	NM_002087.4(GRN):c.1636T>C (p.Tyr546His)	GRN (Y546H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215535	NM_002087.4(GRN):c.1645-40C>T	GRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 29742	NM_002087.4(GRN):c.*78C>T	GRN	Single nucleotide variant (3 prime UTR variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GBenign
Select item 323539	NM_002087.4(GRN):c.*280G>A	GRN	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign

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Items: 69