ClinVar for MedGen (Select 375285) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3239636	NM_002087.4(GRN):c.1435C>T (p.Gln479Ter)	GRN (Q479*)	Single nucleotide variant (nonsense)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	GLikely pathogenic
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 2954533	NM_002087.4(GRN):c.1179G>C (p.Glu393Asp)	GRN (E393D)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2954230	NM_002087.4(GRN):c.797C>T (p.Ala266Val)	GRN (A266V)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2953006	NM_002087.4(GRN):c.1355T>C (p.Val452Ala)	GRN (V452A)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2951651	NM_002087.4(GRN):c.1259G>A (p.Ser420Asn)	GRN (S420N)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2950116	NM_002087.4(GRN):c.599-8T>C	GRN	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 2949696	NM_002087.4(GRN):c.599-11T>A	GRN	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 2949432	NM_002087.4(GRN):c.1102_1104del (p.Asn368del)	GRN (N368del)	Deletion (inframe_deletion)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2948899	NM_002087.4(GRN):c.1603C>T (p.Arg535Ter)	GRN (R535*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
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 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 2946036	NM_002087.4(GRN):c.393C>A (p.Phe131Leu)	GRN (F131L)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2945710	NM_002087.4(GRN):c.1240G>A (p.Gly414Arg)	GRN (G414R)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2944000	NM_002087.4(GRN):c.935C>T (p.Ala312Val)	GRN (A312V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
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 2943042	NM_002087.4(GRN):c.265-13C>G	GRN	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 2942778	NM_002087.4(GRN):c.1004G>A (p.Cys335Tyr)	GRN (C335Y)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2942159	NM_002087.4(GRN):c.1227del (p.Cys410fs)	GRN (C410fs)	Deletion (frameshift variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GPathogenic
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 2941844	NM_002087.4(GRN):c.1011G>C (p.Gln337His)	GRN (Q337H)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +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 2941350	NM_002087.4(GRN):c.657T>C (p.Ser219=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2940672	NM_002087.4(GRN):c.1434C>T (p.Arg478=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2940195	NM_002087.4(GRN):c.1213C>T (p.Pro405Ser)	GRN (P405S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2938949	NM_002087.4(GRN):c.1149T>A (p.Ser383=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2938303	NM_002087.4(GRN):c.1204C>G (p.His402Asp)	GRN (H402D)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2937040	NM_002087.4(GRN):c.1664G>A (p.Arg555Gln)	GRN (R555Q)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2937028	NM_002087.4(GRN):c.933+5C>G	GRN	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	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 2936710	NM_002087.4(GRN):c.1482C>T (p.Ser494=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 2935447	NM_002087.4(GRN):c.1683T>C (p.Ala561=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2935223	NM_002087.4(GRN):c.1337A>T (p.Gln446Leu)	GRN (Q446L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2935139	NM_002087.4(GRN):c.1344C>G (p.Thr448=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2935055	NM_002087.4(GRN):c.264+13T>C	GRN	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2934588	NM_002087.4(GRN):c.176G>C (p.Gly59Ala)	GRN (G59A)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2934562	NM_002087.4(GRN):c.1708A>G (p.Thr570Ala)	GRN (T570A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2934133	NM_002087.4(GRN):c.1606G>A (p.Asp536Asn)	GRN (D536N)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2933798	NM_002087.4(GRN):c.933+10G>A	GRN	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2933459	NM_002087.4(GRN):c.836-19CT[2]	GRN	Microsatellite (intron variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2933013	NM_002087.4(GRN):c.752C>G (p.Thr251Ser)	GRN (T251S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2932785	NM_002087.4(GRN):c.836-5C>G	GRN	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2932702	NM_002087.4(GRN):c.1731C>T (p.Ala577=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2932669	NM_002087.4(GRN):c.873A>G (p.Pro291=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2932583	NM_002087.4(GRN):c.599-10C>T	GRN	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2932432	NM_002087.4(GRN):c.265-2A>T	GRN	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely pathogenic
Select item 2932167	NM_002087.4(GRN):c.265-7T>C	GRN	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2931901	NM_002087.4(GRN):c.1353G>A (p.Pro451=)	GRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2931870	NM_002087.4(GRN):c.1076C>T (p.Ala359Val)	GRN (A359V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
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 2930629	NM_002087.4(GRN):c.1260C>G (p.Ser420Arg)	GRN (S420R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2930565	NM_002087.4(GRN):c.339C>T (p.Phe113=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2929632	NM_002087.4(GRN):c.1707T>C (p.Gly569=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2929601	NM_002087.4(GRN):c.1006G>C (p.Glu336Gln)	GRN (E336Q)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2929514	NM_002087.4(GRN):c.1467C>T (p.Asn489=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
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 2927943	NM_002087.4(GRN):c.1571G>T (p.Gly524Val)	GRN (G524V)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +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 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 2927226	NM_002087.4(GRN):c.1179+3A>G	GRN	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GPathogenic
Select item 2926271	NM_002087.4(GRN):c.1642C>T (p.Gln548Ter)	GRN (Q548*)	Single nucleotide variant (nonsense)	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 2925625	NM_002087.4(GRN):c.1317_1318del (p.Asp441fs)	GRN (D441fs)	Deletion (frameshift variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GPathogenic
Select item 2925624	NM_002087.4(GRN):c.388C>T (p.Gln130Ter)	GRN (Q130*)	Single nucleotide variant (nonsense)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GPathogenic
Select item 2925623	NM_002087.4(GRN):c.348A>C (p.Ser116=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2925241	NM_002087.4(GRN):c.1770A>G (p.Arg590=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2925230	NM_002087.4(GRN):c.487C>T (p.His163Tyr)	GRN (H163Y)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2925036	NM_002087.4(GRN):c.1561T>G (p.Cys521Gly)	GRN (C521G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2924712	NM_002087.4(GRN):c.301C>A (p.Arg101=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2924552	NM_002087.4(GRN):c.1180-4C>A	GRN	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2924498	NM_002087.4(GRN):c.1645-17C>T	GRN	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2924467	NM_002087.4(GRN):c.349+12G>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 2924389	NM_002087.4(GRN):c.1423T>C (p.Cys475Arg)	GRN (C475R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +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 2923848	NM_002087.4(GRN):c.934-9C>T	GRN	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2923646	NM_002087.4(GRN):c.1092C>T (p.Val364=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2923224	NM_002087.4(GRN):c.1570G>C (p.Gly524Arg)	GRN (G524R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2923091	NM_002087.4(GRN):c.1665G>T (p.Arg555=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2922564	NM_002087.4(GRN):c.1413T>C (p.His471=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2922494	NM_002087.4(GRN):c.665G>A (p.Cys222Tyr)	GRN (C222Y)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2922295	NM_002087.4(GRN):c.685T>C (p.Tyr229His)	GRN (Y229H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2921658	NM_002087.4(GRN):c.980C>T (p.Thr327Met)	GRN (T327M)	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)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	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 2421896	NM_002087.4(GRN):c.795C>T (p.Asn265=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2421214	NM_002087.4(GRN):c.784T>C (p.Ser262Pro)	GRN (S262P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	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 2421105	NM_002087.4(GRN):c.1344C>T (p.Thr448=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2419137	NM_002087.4(GRN):c.1414-15_1591del	GRN	Deletion (splice acceptor variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely pathogenic
Select item 2418453	NM_002087.4(GRN):c.1674C>T (p.Cys558=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GLikely benign
Select item 2417606	NM_002087.4(GRN):c.349+19T>C	GRN	Single nucleotide variant (intron variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 2278094	NM_002087.4(GRN):c.1759C>T (p.Pro587Ser)	GRN (P587S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2262853	NM_002087.4(GRN):c.1295G>A (p.Arg432His)	GRN (R432H)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GUncertain significance
Select item 2201802	NM_002087.4(GRN):c.1690C>T (p.Arg564Cys)	GRN (R564C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance
Select item 2200465	NM_002087.4(GRN):c.1554C>T (p.Asp518=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GLikely benign
Select item 2200034	NM_002087.4(GRN):c.1696G>A (p.Ala566Thr)	GRN (A566T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2199836	NM_002087.4(GRN):c.1316C>G (p.Pro439Arg)	GRN (P439R)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 2198134	NM_002087.4(GRN):c.1327G>C (p.Gly443Arg)	GRN (G443R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +1 more	GUncertain significance

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