MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Frontotemporal Lobar Degeneration (D057174)
..Starting node ..FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
Child Nodes:
Sister Nodes:
..Frontotemporal Dementia (D057180) 8
..FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
..Pick Complex (C563966)
..Primary Progressive Nonfluent Aphasia (D057178)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4893

Name:

FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED

Definition:

Alternative IDs:

DO:DOID:0060672

ParentIDs:

MESH:D057174

TreeNumbers:

C10.228.140.380.266/607485 |C10.574.950.300/607485 |C18.452.845.800.300/607485 |F03.615.400.380/607485

Synonyms:

DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION;HDDD APHASIA, PRIMARY PROGRESSIVE, INCLUDED |FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE |FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED |FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCL

Slim Mappings:

Mental disorder|Metabolic disease|Nervous system disease

Reference:

MedGen: 607485
MeSH: 607485
OMIM: 607485;
MSeqDR :
Genes: GRN;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000713	Agitation
3	HP:0000741	Apathy
4	HP:0002381	Aphasia
5	HP:0002186	Apraxia
6	HP:0002120	Cerebral cortical atrophy
7	HP:0006956	Dilation of lateral ventricles
8	HP:0000734	Disinhibition
9	HP:0002357	Dysphasia
10	HP:0002145	Frontotemporal dementia
11	HP:0002171	Gliosis
12	HP:0000738	Hallucinations
13	HP:0000710	Hyperorality
14	HP:0030214	Hypersexuality
15	HP:0002354	Memory impairment
16	HP:0002300	Mutism
17	HP:0002529	Neuronal loss in central nervous system
18	HP:0001300	Parkinsonism NAMDC: Parkinsonism
19	HP:0030223	Perseveration
20	HP:0000751	Personality changes
21	HP:0002591	Polyphagia
22	HP:0007064	Progressive language deterioration
23	HP:0008762	Repetitive compulsive behavior

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000017.11:g.(?_44027807)_(44352876_?)dup	2896	GRN	Uncertain significance	-1	RCV001032594;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42105175	42430244	-1	-
NM_002087.3(GRN):c.-212G>A	2896	GRN	Uncertain significance	rs886053002	RCV000272574;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42422498	42422498	NC_000017.10:g.42422498G>A	ClinGen:CA10639804	C0338451 600274 Frontotemporal dementia;
NM_002087.3(GRN):c.-179G>C	2896	GRN	Uncertain significance	rs886053003	RCV000327666;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42422531	42422531	NC_000017.10:g.42422531G>C	ClinGen:CA10645812	C0338451 600274 Frontotemporal dementia;
NM_002087.3(GRN):c.-100A>G	2896	GRN	Uncertain significance	rs956983853	RCV000712524\|RCV001122180;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42422610	42422610	NC_000017.10:g.42422610A>G	-
NM_002087.3(GRN):c.-72G>T	2896	GRN	Benign/Likely benign	rs76783532	RCV000264312\|RCV000732358\|RCV001523483;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN169374\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42422638	42422638	NC_000017.10:g.42422638G>T	ClinGen:CA10639808	C0338451 600274 Frontotemporal dementia;
NM_002087.3(GRN):c.-45C>G	2896	GRN	Likely benign	rs563336550	RCV000323977\|RCV000675672\|RCV001660667;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202\|MedGen:CN169374	17	42422665	42422665	NC_000017.10:g.42422665C>G	ClinGen:CA10639809	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.-38T>C	2896	GRN	Benign	rs530686556	RCV000712529\|RCV001122181;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42422672	42422672	NC_000017.10:g.42422672T>C	-
NM_002087.4(GRN):c.-22C>T	2896	GRN	Uncertain significance	rs572309824	RCV001122182;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42422688	42422688	17:g.42422688C>T	-
NM_002087.4(GRN):c.-8+3A>C	2896	GRN	Uncertain significance	rs63751020	RCV001122183;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42422705	42422705	17:g.42422705A>C	-
NM_002087.4(GRN):c.-8+5G>C	2896	GRN	Pathogenic	rs63750313	RCV000084418\|RCV001089936;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42422707	42422707	17:g.42422707G>C	ClinGen:CA225192,OMIM:138945.0001	CN517202 not provided;
NM_002087.4(GRN):c.-8+5G>A	2896	GRN	Uncertain significance	-1	RCV002780111;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42422707	42422707	NC_000017.10:g.42422707G>A	-
NM_002087.4(GRN):c.-8+46G>T	2896	GRN	Benign	-1	RCV002180876;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42422748	42422748	42422748	-
NC_000017.10:g.(?_42426434)_(42430018_?)del	2896	GRN	Pathogenic	-1	RCV001949399;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426434	42430018	-1	-
NM_002087.4(GRN):c.1A>G (p.Met1Val)	2896	GRN	Pathogenic	-1	RCV002047593;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426533	42426533	42426533	-
NM_002087.4(GRN):c.2T>C (p.Met1Thr)	2896	GRN	Pathogenic	rs63751006	RCV000017381\|RCV000084419\|RCV002513073;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426534	42426534	17:g.42426534T>C	ClinGen:CA225193,OMIM:138945.0003	C1843792 607485 Frontotemporal dementia, ubiquitin-positive;
NM_002087.4(GRN):c.3G>A (p.Met1Ile)	2896	GRN	Pathogenic	rs63750331	RCV000017382\|RCV000084420;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202	17	42426535	42426535	17:g.42426535G>A	ClinGen:CA225196,OMIM:138945.0004	C1843792 607485 Frontotemporal dementia, ubiquitin-positive;
NM_002087.4(GRN):c.8C>G (p.Thr3Ser)	2896	GRN	Uncertain significance	rs375939802	RCV000811134;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426540	42426540	17:g.42426540C>G	-
NM_002087.4(GRN):c.18C>G (p.Ser6Arg)	2896	GRN	Uncertain significance	-1	RCV002710760;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426550	42426550	NC_000017.10:g.42426550C>G	-
NM_002087.4(GRN):c.19T>G (p.Trp7Gly)	2896	GRN	Uncertain significance	-1	RCV003022829;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426551	42426551	NC_000017.10:g.42426551T>G	-
NM_002087.4(GRN):c.22G>A (p.Val8Met)	2896	GRN	Uncertain significance	rs774367010	RCV000729976\|RCV002477697;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426554	42426554	NC_000017.10:g.42426554G>A	-
NM_002087.4(GRN):c.24G>A (p.Val8_Ala9=)	2896	GRN	Likely benign	-1	RCV002431086\|RCV003101892;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426556	42426556	42426556	-
NM_002087.4(GRN):c.26C>A (p.Ala9Asp)	2896	GRN	Pathogenic	rs63751243	RCV000017386\|RCV000084421\|RCV001851887;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426558	42426558	17:g.42426558C>A	ClinGen:CA225199,UniProtKB:P28799#VAR_044451,OMIM:138945.0008	C1843792 607485 Frontotemporal dementia, ubiquitin-positive;
NM_002087.4(GRN):c.26C>T (p.Ala9Val)	2896	GRN	Uncertain significance	-1	RCV002958641;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426558	42426558	NC_000017.10:g.42426558C>T	-
NM_002087.4(GRN):c.30A>C (p.Leu10Phe)	2896	GRN	Uncertain significance	-1	RCV003033498;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426562	42426562	NC_000017.10:g.42426562A>C	-
NM_002087.4(GRN):c.39dup (p.Leu14fs)	2896	GRN	Pathogenic	-1	RCV002037823;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426568	42426569	42426568	-
NM_002087.4(GRN):c.38G>C (p.Gly13Ala)	2896	GRN	Uncertain significance	rs1457930333	RCV001330880;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426570	42426570	42426570	-
NM_002087.4(GRN):c.42G>A (p.Leu14=)	2896	GRN	Benign/Likely benign	rs111435385	RCV000576580\|RCV000874021\|RCV001550117\|RCV002311950;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MedGen:CN517202\|MeSH	17	42426574	42426574	17:g.42426574G>A	ClinGen:CA8601734	C1843792 607485 Frontotemporal dementia, ubiquitin-positive;
NM_002087.4(GRN):c.47C>T (p.Ala16Val)	2896	GRN	Uncertain significance	-1	RCV003063520;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426579	42426579	NC_000017.10:g.42426579C>T	-
NM_002087.4(GRN):c.50G>C (p.Gly17Ala)	2896	GRN	Uncertain significance	-1	RCV002944274;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426582	42426582	NC_000017.10:g.42426582G>C	-
NM_002087.4(GRN):c.53C>T (p.Thr18Met)	2896	GRN	Uncertain significance	rs199572314	RCV000521954\|RCV000764130\|RCV002350151;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42426585	42426585	17:g.42426585C>T	ClinGen:CA8601736	CN169374 not specified;
NM_002087.4(GRN):c.54G>A (p.Thr18=)	2896	GRN	Likely benign	rs753160641	RCV000935535\|RCV002542302;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426586	42426586	17:g.42426586G>A	-
NM_002087.4(GRN):c.55C>T (p.Arg19Trp)	2896	GRN	Benign	rs63750723	RCV000084422\|RCV000246460\|RCV000576325\|RCV001079864\|RCV002311746;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629,Orp	17	42426587	42426587	17:g.42426587C>T	ClinGen:CA225201,UniProtKB:P28799#VAR_064625	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.56G>A (p.Arg19Gln)	2896	GRN	Uncertain significance	-1	RCV001952401;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426588	42426588	42426588	-
NM_002087.4(GRN):c.57G>T (p.Arg19=)	2896	GRN	Conflicting interpretations of pathogenicity	rs1426790644	RCV001124954\|RCV002556706;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426589	42426589	17:g.42426589G>T	-
NM_002087.4(GRN):c.58T>C (p.Cys20Arg)	2896	GRN	Uncertain significance	rs542613543	RCV001318543;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426590	42426590	42426590	-
NM_002087.4(GRN):c.62C>T (p.Pro21Leu)	2896	GRN	Uncertain significance	-1	RCV001912397;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426594	42426594	42426594	-
NM_002087.4(GRN):c.69T>C (p.Gly23=)	2896	GRN	Likely benign	-1	RCV002104827;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426601	42426601	42426601	-
NM_002087.4(GRN):c.80dup (p.Val28fs)	2896	GRN	Pathogenic	rs1392550887	RCV000650259;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426609	42426610	17:g.42426609_42426610insC	ClinGen:CA658798869	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.87dup (p.Cys30fs)	2896	GRN	Pathogenic	rs794729672	RCV000185614\|RCV001852413;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426617	42426618	17:g.42426617_42426618insC	ClinGen:CA275538	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.86C>T (p.Ala29Val)	2896	GRN	Uncertain significance	-1	RCV002611797;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426618	42426618	NC_000017.10:g.42426618C>T	-
NM_002087.4(GRN):c.93_96dup (p.Asp33fs)	2896	GRN	Pathogenic	rs606231220	RCV000017383;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426621	42426622	NC_000017.10:g.42426625_42426628dup	ClinGen:CA257407,OMIM:138945.0005	C1843792 607485 Frontotemporal dementia, ubiquitin-positive;
NM_002087.4(GRN):c.96G>C (p.Leu32_Asp33=)	2896	GRN	Likely benign	-1	RCV002877523;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426628	42426628	NC_000017.10:g.42426628G>C	-
NM_002087.4(GRN):c.99C>T (p.Asp33=)	2896	GRN	Benign/Likely benign	rs63750742	RCV000084425\|RCV000243797\|RCV000576806\|RCV001080696\|RCV002313838;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629,Orp	17	42426631	42426631	17:g.42426631C>T	ClinGen:CA225206	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.102del (p.Gly35fs)	2896	GRN	Pathogenic	rs63751073	RCV000084427\|RCV001241659\|RCV002281919;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426631	42426631	17:g.42426631_42426631del	ClinGen:CA225212,OMIM:138945.0016	CN517202 not provided;
NM_002087.4(GRN):c.99C>A (p.Asp33Glu)	2896	GRN	Conflicting interpretations of pathogenicity	rs63750742	RCV001124955\|RCV001593285\|RCV001242925;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426631	42426631	17:g.42426631C>A	-
NM_002087.4(GRN):c.100C>G (p.Pro34Ala)	2896	GRN	Uncertain significance	rs748147151	RCV000315887;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426632	42426632	NC_000017.10:g.42426632C>G	ClinGen:CA10649397	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.100C>T (p.Pro34Ser)	2896	GRN	Uncertain significance	-1	RCV001360798;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426632	42426632	42426632	-
NM_002087.4(GRN):c.102C>T (p.Pro34=)	2896	GRN	Conflicting interpretations of pathogenicity	rs63751074	RCV000084426\|RCV002055247;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426634	42426634	17:g.42426634C>T	ClinGen:CA225209	CN517202 not provided;
NM_002087.4(GRN):c.103G>A (p.Gly35Arg)	2896	GRN	Conflicting interpretations of pathogenicity	rs533451404	RCV001254077\|RCV002224041\|RCV002570552;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426635	42426635	17:g.42426635G>A	-
NM_002087.4(GRN):c.110C>T (p.Ala37Val)	2896	GRN	Uncertain significance	-1	RCV002028798;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426642	42426642	42426642	-
NM_002087.4(GRN):c.118_121dup (p.Cys41Ter)	2896	GRN	Pathogenic	-1	RCV002876284;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426649	42426650	NC_000017.10:g.42426650_42426653dup	-
NM_002087.4(GRN):c.128G>A (p.Arg43His)	2896	GRN	Uncertain significance	-1	RCV002021401\|RCV002300644\|RCV002386925;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	17	42426660	42426660	42426660	-
NM_002087.4(GRN):c.129T>C (p.Arg43=)	2896	GRN	Likely benign	-1	RCV002173588;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426661	42426661	42426661	-
NM_002087.4(GRN):c.138+1G>A	2896	GRN	Pathogenic	rs63749844	RCV000084428\|RCV001049316;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426671	42426671	17:g.42426671G>A	ClinGen:CA225213	CN517202 not provided;
NM_002087.4(GRN):c.139-12C>G	2896	GRN	Likely benign	-1	RCV003066463;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426782	42426782	NC_000017.10:g.42426782C>G	-
NM_002087.4(GRN):c.139-10_139-7del	2896	GRN	Likely benign	-1	RCV002791608;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426782	42426785	NC_000017.10:g.42426784_42426787del	-
NM_002087.4(GRN):c.139-3T>C	2896	GRN	Conflicting interpretations of pathogenicity	rs371119011	RCV001124956\|RCV001207054\|RCV001702835\|RCV002313697;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202\|MeSH	17	42426791	42426791	NC_000017.10:g.42426791T>C	-
NM_002087.4(GRN):c.139G>A (p.Asp47Asn)	2896	GRN	Uncertain significance	rs1239690384	RCV000689976;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426794	42426794	NC_000017.10:g.42426794G>A	-	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.146G>A (p.Trp49Ter)	2896	GRN	Pathogenic	rs1598362746	RCV000995778;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426801	42426801	17:g.42426801G>A	-
NM_002087.4(GRN):c.154del (p.Thr52fs)	2896	GRN	Pathogenic	rs63751092	RCV000084429\|RCV002281920;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426808	42426808	17:g.42426808_42426808del	ClinGen:CA225214,OMIM:138945.0017	CN517202 not provided;
NM_002087.4(GRN):c.157C>G (p.Leu53Val)	2896	GRN	Uncertain significance	rs906652114	RCV001766575\|RCV001862033\|RCV002314541;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42426812	42426812	NC_000017.10:g.42426812C>G	-
NM_002087.4(GRN):c.160A>G (p.Ser54Gly)	2896	GRN	Uncertain significance	-1	RCV001910389;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426815	42426815	42426815	-
NM_002087.4(GRN):c.168T>C (p.His56_Leu57=)	2896	GRN	Likely benign	-1	RCV002725874;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426823	42426823	NC_000017.10:g.42426823T>C	-
NM_002087.4(GRN):c.170T>G (p.Leu57Arg)	2896	GRN	Uncertain significance	rs545762769	RCV001041583;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426825	42426825	17:g.42426825T>G	-
NM_002087.4(GRN):c.180dup (p.Cys61fs)	2896	GRN	Pathogenic	-1	RCV002791443;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426831	42426832	NC_000017.10:g.42426835dup	-
NM_002087.4(GRN):c.182G>A (p.Cys61Tyr)	2896	GRN	Uncertain significance	-1	RCV003008312;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426837	42426837	NC_000017.10:g.42426837G>A	-
NM_002087.4(GRN):c.186G>A (p.Gln62_Val63=)	2896	GRN	Likely benign	-1	RCV002624759;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426841	42426841	NC_000017.10:g.42426841G>A	-
NM_002087.4(GRN):c.190G>A (p.Asp64Asn)	2896	GRN	Uncertain significance	-1	RCV002587408;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426845	42426845	NC_000017.10:g.42426845G>A	-
NM_002087.4(GRN):c.198C>T (p.His66_Cys67=)	2896	GRN	Likely benign	-1	RCV003067311;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426853	42426853	NC_000017.10:g.42426853C>T	-
NM_002087.4(GRN):c.206C>A (p.Ala69Asp)	2896	GRN	Uncertain significance	-1	RCV003018169;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426861	42426861	NC_000017.10:g.42426861C>A	-
NM_002087.4(GRN):c.207C>T (p.Ala69_Gly70=)	2896	GRN	Likely benign	-1	RCV002953681;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426862	42426862	NC_000017.10:g.42426862C>T	-
NM_002087.4(GRN):c.208G>A (p.Gly70Ser)	2896	GRN	Uncertain significance	-1	RCV001997782;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426863	42426863	42426863	-
NM_002087.4(GRN):c.212A>G (p.His71Arg)	2896	GRN	Uncertain significance	-1	RCV002842782;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426867	42426867	NC_000017.10:g.42426867A>G	-
NM_002087.4(GRN):c.215C>T (p.Ser72Phe)	2896	GRN	Uncertain significance	-1	RCV002302926;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426870	42426870	42426870	-
NM_002087.4(GRN):c.228C>T (p.Thr76=)	2896	GRN	Benign/Likely benign	rs144736470	RCV000712528\|RCV001079009\|RCV001124957\|RCV002442547;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH	17	42426883	42426883	NC_000017.10:g.42426883C>T	-
NM_002087.4(GRN):c.229G>A (p.Val77Ile)	2896	GRN	Uncertain significance	rs148531161	RCV000806404\|RCV002307621;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MedGen:CN169374	17	42426884	42426884	17:g.42426884G>A	-
NM_002087.4(GRN):c.238A>T (p.Thr80Ser)	2896	GRN	Uncertain significance	rs1022228740	RCV001766576\|RCV001868346\|RCV002314542;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42426893	42426893	NC_000017.10:g.42426893A>T	-
NM_002087.4(GRN):c.240T>C (p.Thr80=)	2896	GRN	Likely benign	-1	RCV002123790;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426895	42426895	42426895	-
NM_002087.4(GRN):c.243C>T (p.Ser81_Ser82=)	2896	GRN	Likely benign	-1	RCV002983080;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426898	42426898	NC_000017.10:g.42426898C>T	-
NM_002087.4(GRN):c.250T>C (p.Cys84Arg)	2896	GRN	Uncertain significance	rs1598362876	RCV000800052;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426905	42426905	17:g.42426905T>C	-
NM_002087.4(GRN):c.253C>G (p.Pro85Ala)	2896	GRN	Conflicting interpretations of pathogenicity	rs143560849	RCV000992526\|RCV002067595\|RCV002454237;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42426908	42426908	17:g.42426908C>G	-
NM_002087.4(GRN):c.254C>T (p.Pro85Leu)	2896	GRN	Uncertain significance	-1	RCV001794715\|RCV001868892;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426909	42426909	42426909	-
NM_002087.4(GRN):c.258C>G (p.Phe86Leu)	2896	GRN	Uncertain significance	-1	RCV003084667\|RCV003090285;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426913	42426913	NC_000017.10:g.42426913C>G	-
NM_002087.4(GRN):c.258C>T (p.Phe86_Pro87=)	2896	GRN	Likely benign	-1	RCV002771626;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426913	42426913	NC_000017.10:g.42426913C>T	-
NM_002087.4(GRN):c.263A>C (p.Glu88Ala)	2896	GRN	Uncertain significance	-1	RCV003040161;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426918	42426918	NC_000017.10:g.42426918A>C	-
NM_002087.4(GRN):c.264G>A (p.Glu88=)	2896	GRN	Pathogenic	rs63751166	RCV000084432\|RCV000995779;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426919	42426919	17:g.42426919G>A	ClinGen:CA225219	CN517202 not provided;
NM_002087.4(GRN):c.264+1del	2896	GRN	Pathogenic	-1	RCV002797068;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426919	42426919	NC_000017.10:g.42426920del	-
NM_002087.4(GRN):c.264+3G>T	2896	GRN	Uncertain significance	-1	RCV002942919;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426922	42426922	NC_000017.10:g.42426922G>T	-
NM_002087.4(GRN):c.264+6C>T	2896	GRN	Uncertain significance	-1	RCV003079278;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426925	42426925	NC_000017.10:g.42426925C>T	-
NM_002087.4(GRN):c.264+7G>A	2896	GRN	Benign/Likely benign	rs60100877	RCV000177147\|RCV000513109\|RCV000576305\|RCV001086378;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070,O	17	42426926	42426926	17:g.42426926G>A	ClinGen:CA202311	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.264+7G>C	2896	GRN	Likely benign	-1	RCV002647431;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42426926	42426926	NC_000017.10:g.42426926G>C	-
NM_002087.4(GRN):c.264+21G>A	2896	GRN	Benign	rs9897526	RCV000675674\|RCV001702546\|RCV001703232;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42426940	42426940	17:g.42426940G>A	-	CN517202 not provided;
NM_002087.4(GRN):c.265-2del	2896	GRN	Pathogenic	-1	RCV003064458;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427033	42427033	NC_000017.10:g.42427033del	-
NM_002087.4(GRN):c.267C>T (p.Ala89=)	2896	GRN	Benign/Likely benign	-1	RCV002129614\|RCV002427647;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42427037	42427037	42427037	-
NM_002087.4(GRN):c.268G>A (p.Val90Met)	2896	GRN	Conflicting interpretations of pathogenicity	rs200019356	RCV000822374\|RCV001124958;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427038	42427038	17:g.42427038G>A	-
NM_002087.4(GRN):c.276C>T (p.Cys92=)	2896	GRN	Likely benign	-1	RCV001585365\|RCV002070434\|RCV002440824;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42427046	42427046	42427046	-
NM_002087.4(GRN):c.277G>A (p.Gly93Arg)	2896	GRN	Uncertain significance	-1	RCV002937799;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427047	42427047	NC_000017.10:g.42427047G>A	-
NM_002087.4(GRN):c.278G>A (p.Gly93Glu)	2896	GRN	Uncertain significance	-1	RCV002705753;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427048	42427048	NC_000017.10:g.42427048G>A	-
NM_002087.4(GRN):c.279G>A (p.Gly93=)	2896	GRN	Likely benign	rs63751088	RCV000084433\|RCV001079794;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427049	42427049	17:g.42427049G>A	ClinGen:CA225222	CN517202 not provided;
NM_002087.4(GRN):c.280G>A (p.Asp94Asn)	2896	GRN	Uncertain significance	-1	RCV001868448\|RCV001765556;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MedGen:CN517202	17	42427050	42427050	42427050	-
NM_002087.4(GRN):c.285C>T (p.Gly95_His96=)	2896	GRN	Likely benign	-1	RCV002776086;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427055	42427055	NC_000017.10:g.42427055C>T	-
NM_002087.4(GRN):c.287A>G (p.His96Arg)	2896	GRN	Conflicting interpretations of pathogenicity	rs139272628	RCV001868342\|RCV002312349;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42427057	42427057	NC_000017.10:g.42427057A>G	-
NM_002087.4(GRN):c.291C>T (p.His97_Cys98=)	2896	GRN	Likely benign	-1	RCV002659030;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427061	42427061	NC_000017.10:g.42427061C>T	-
NM_002087.4(GRN):c.295_308del (p.Cys99fs)	2896	GRN	Pathogenic	-1	RCV003064459;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427065	42427078	NC_000017.10:g.42427065_42427078del	-
NM_002087.4(GRN):c.299del (p.Pro100fs)	2896	GRN	Pathogenic	-1	RCV001389661;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427067	42427067	42427066	-
NM_002087.4(GRN):c.301C>T (p.Arg101Trp)	2896	GRN	Uncertain significance	-1	RCV002020554;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427071	42427071	42427071	-
NM_002087.4(GRN):c.302G>A (p.Arg101Gln)	2896	GRN	Uncertain significance	rs201686997	RCV001862013\|RCV002312278;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42427072	42427072	NC_000017.10:g.42427072G>A	-
NM_002087.4(GRN):c.305G>A (p.Gly102Asp)	2896	GRN	Uncertain significance	-1	RCV002627264;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427075	42427075	NC_000017.10:g.42427075G>A	-
NM_002087.4(GRN):c.321A>C (p.Ala107=)	2896	GRN	Likely benign	-1	RCV001498903;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427091	42427091	42427091	-
NM_002087.4(GRN):c.324C>T (p.Asp108_Gly109=)	2896	GRN	Likely benign	-1	RCV002590364;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427094	42427094	NC_000017.10:g.42427094C>T	-
NM_002087.4(GRN):c.325G>A (p.Gly109Arg)	2896	GRN	Uncertain significance	-1	RCV001895773;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427095	42427095	42427095	-
NM_002087.4(GRN):c.327G>A (p.Gly109=)	2896	GRN	Likely benign	-1	RCV002116908;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427097	42427097	42427097	-
NM_002087.4(GRN):c.328C>T (p.Arg110Ter)	2896	GRN	Pathogenic	rs63750411	RCV000084436\|RCV000767861\|RCV001291777\|RCV001387934;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MOND	17	42427098	42427098	17:g.42427098C>T	ClinGen:CA225231	CN517202 not provided;
NM_002087.4(GRN):c.329G>A (p.Arg110Gln)	2896	GRN	Conflicting interpretations of pathogenicity	rs375439809	RCV002318116\|RCV002533029;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427099	42427099	NC_000017.10:g.42427099G>A	-
NM_002087.4(GRN):c.332C>T (p.Ser111Phe)	2896	GRN	Uncertain significance	-1	RCV002015589\|RCV002077353;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MedGen:CN517202	17	42427102	42427102	42427102	-
NM_002087.4(GRN):c.349+1G>C	2896	GRN	Pathogenic	rs1598363083	RCV000995780\|RCV001858821;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427120	42427120	17:g.42427120G>C	-
NM_002087.4(GRN):c.349+11G>A	2896	GRN	Likely benign	-1	RCV002985635;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427130	42427130	NC_000017.10:g.42427130G>A	-
NM_002087.4(GRN):c.349+12G>T	2896	GRN	Likely benign	-1	RCV002163168;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427131	42427131	42427131	-
NM_002087.4(GRN):c.349+15T>A	2896	GRN	Uncertain significance	-1	RCV002932650;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427134	42427134	NC_000017.10:g.42427134T>A	-
NM_002087.4(GRN):c.349+16G>C	2896	GRN	Likely benign	-1	RCV002207122;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427135	42427135	42427135	-
NM_002087.4(GRN):c.349+18del	2896	GRN	Likely benign	-1	RCV002618417;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427135	42427135	NC_000017.10:g.42427137del	-
NM_002087.4(GRN):c.349+19T>C	2896	GRN	Likely benign	-1	RCV003115075;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427138	42427138	NC_000017.10:g.42427138T>C	-
NM_002087.4(GRN):c.350-50_350-47dup	2896	GRN	Benign	rs34424835	RCV000989927\|RCV001619874;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202	17	42427544	42427545	17:g.42427544_42427545insAGTC	-
NM_002087.4(GRN):c.350-13A>G	2896	GRN	Likely benign	-1	RCV002626940;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427583	42427583	NC_000017.10:g.42427583A>G	-
NM_002087.4(GRN):c.350-9T>C	2896	GRN	Likely benign	-1	RCV003072869;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427587	42427587	NC_000017.10:g.42427587T>C	-
NM_002087.4(GRN):c.350G>A (p.Gly117Asp)	2896	GRN	Uncertain significance	rs758131649	RCV001319865;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427596	42427596	42427596	-
NM_002087.4(GRN):c.351T>G (p.Gly117=)	2896	GRN	Likely benign	-1	RCV002134422;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427597	42427597	42427597	-
NM_002087.4(GRN):c.352AAC[1] (p.Asn119del)	2896	GRN	Uncertain significance	-1	RCV001925611\|RCV002290799;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0014640,MedGen:C4225326,OMIM:616437, Orphanet:275864, Orphanet:275872, Orphanet:803	17	42427598	42427600	42427597	-
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr)	2896	GRN	Benign/Likely benign	rs63750043	RCV000084437\|RCV001086038\|RCV001125933\|RCV002453414;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH	17	42427605	42427605	17:g.42427605C>A	ClinGen:CA225234,UniProtKB:P28799#VAR_064629	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.360C>T (p.Ser120=)	2896	GRN	Likely benign	rs375183423	RCV000891847\|RCV001430492;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427606	42427606	17:g.42427606C>T	-
NM_002087.4(GRN):c.361G>A (p.Val121Met)	2896	GRN	Uncertain significance	-1	RCV002006897\|RCV003130674;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MedGen:CN517202	17	42427607	42427607	42427607	-
NM_002087.4(GRN):c.373C>T (p.Gln125Ter)	2896	GRN	Pathogenic	rs63750077	RCV000017380\|RCV000084439;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202	17	42427619	42427619	17:g.42427619C>T	ClinGen:CA225238,OMIM:138945.0002	C1843792 607485 Frontotemporal dementia, ubiquitin-positive;
NM_002087.4(GRN):c.378C>T (p.Cys126_Pro127=)	2896	GRN	Likely benign	-1	RCV002970790;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427624	42427624	NC_000017.10:g.42427624C>T	-
NM_002087.4(GRN):c.379C>G (p.Pro127Ala)	2896	GRN	Uncertain significance	-1	RCV002756951;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427625	42427625	NC_000017.10:g.42427625C>G	-
NM_002087.4(GRN):c.383_386del (p.Asp128fs)	2896	GRN	Pathogenic/Likely pathogenic	rs2048359069	RCV001220665\|RCV001751423;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202	17	42427628	42427631	17:g.42427628_42427631del	-
NM_002087.4(GRN):c.384T>C (p.Asp128=)	2896	GRN	Benign/Likely benign	rs25646	RCV000084440\|RCV000251569\|RCV000280623\|RCV001516285\|RCV002311747;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629,Orp	17	42427630	42427630	17:g.42427630T>C	ClinGen:CA225241	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.388_391del (p.Gln130fs)	2896	GRN	Pathogenic	rs63749801	RCV000017384\|RCV000084442\|RCV000736253\|RCV002513074;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070	17	42427631	42427634	17:g.42427631_42427634del	ClinGen:CA225245,OMIM:138945.0006	C1843792 607485 Frontotemporal dementia, ubiquitin-positive;
NM_002087.4(GRN):c.393C>T (p.Phe131=)	2896	GRN	Conflicting interpretations of pathogenicity	rs149180605	RCV000349606\|RCV002056604;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427639	42427639	NC_000017.10:g.42427639C>T	ClinGen:CA8601872	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.393C>G (p.Phe131Leu)	2896	GRN	Conflicting interpretations of pathogenicity	rs149180605	RCV000873800\|RCV001662792\|RCV001662791\|RCV002317979;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN169374\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	17	42427639	42427639	NC_000017.10:g.42427639C>G	-
NM_002087.4(GRN):c.394G>A (p.Glu132Lys)	2896	GRN	Uncertain significance	-1	RCV002026537;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427640	42427640	42427640	-
NM_002087.4(GRN):c.401C>T (p.Pro134Leu)	2896	GRN	Uncertain significance	-1	RCV002375730\|RCV003102502;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427647	42427647	42427647	-
NM_002087.4(GRN):c.402G>A (p.Pro134=)	2896	GRN	Likely benign	-1	RCV002148220;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427648	42427648	42427648	-
NM_002087.4(GRN):c.406T>G (p.Phe136Val)	2896	GRN	Uncertain significance	-1	RCV003037380\|RCV003134594;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MedGen:CN517202	17	42427652	42427652	NC_000017.10:g.42427652T>G	-
NM_002087.4(GRN):c.413C>T (p.Thr138Met)	2896	GRN	Uncertain significance	-1	RCV002996365;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427659	42427659	NC_000017.10:g.42427659C>T	-
NM_002087.4(GRN):c.414G>C (p.Thr138=)	2896	GRN	Benign	-1	RCV002108236;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427660	42427660	42427660	-
NM_002087.4(GRN):c.414G>A (p.Thr138=)	2896	GRN	Likely benign	-1	RCV002164339;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427660	42427660	42427660	-
NM_002087.4(GRN):c.415T>C (p.Cys139Arg)	2896	GRN	Uncertain significance	rs763841075	RCV000996562\|RCV001212605\|RCV002318150;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42427661	42427661	NC_000017.10:g.42427661T>C	-
NM_002087.4(GRN):c.421G>A (p.Val141Ile)	2896	GRN	Conflicting interpretations of pathogenicity	rs63749853	RCV000084443\|RCV001854474\|RCV002326804;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42427667	42427667	17:g.42427667G>A	ClinGen:CA225246	CN517202 not provided;
NM_002087.4(GRN):c.424dup (p.Met142fs)	2896	GRN	Pathogenic	rs1598363490	RCV000995781;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427669	42427670	17:g.42427669_42427670insA	-
NM_002087.4(GRN):c.423T>G (p.Val141_Met142=)	2896	GRN	Likely benign	-1	RCV003087159;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427669	42427669	NC_000017.10:g.42427669T>G	-
NM_002087.4(GRN):c.427G>T (p.Val143Phe)	2896	GRN	Uncertain significance	-1	RCV001919399;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427673	42427673	42427673	-
NM_002087.4(GRN):c.429C>T (p.Val143=)	2896	GRN	Likely benign	-1	RCV002081765;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427675	42427675	42427675	-
NM_002087.4(GRN):c.442G>A (p.Gly148Arg)	2896	GRN	Uncertain significance	rs375343686	RCV000799711\|RCV002332623;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42427688	42427688	17:g.42427688G>A	-
NM_002087.4(GRN):c.456_457delinsAT (p.Met152_Pro153delinsIleSer)	2896	GRN	Uncertain significance	-1	RCV001932575;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427702	42427703	42427702	-
NM_002087.4(GRN):c.462+13G>A	2896	GRN	Likely benign	-1	RCV002947261;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427721	42427721	NC_000017.10:g.42427721G>A	-
NM_002087.4(GRN):c.462+16A>G	2896	GRN	Likely benign	-1	RCV003068885;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427724	42427724	NC_000017.10:g.42427724A>G	-
NM_002087.4(GRN):c.462+20G>A	2896	GRN	Likely benign	-1	RCV002775320;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427728	42427728	NC_000017.10:g.42427728G>A	-
NM_002087.4(GRN):c.463-6dup	2896	GRN	Benign	-1	RCV002126025;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427798	42427799	42427798	-
NM_002087.4(GRN):c.463-5C>G	2896	GRN	Uncertain significance	-1	RCV001914518;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427805	42427805	42427805	-
NM_002087.4(GRN):c.468_474del (p.Cys157fs)	2896	GRN	Pathogenic	rs63750247	RCV000084445\|RCV002514497;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427815	42427821	17:g.42427815_42427821del	ClinGen:CA225250	CN517202 not provided;
NM_002087.4(GRN):c.472_496dup (p.Pro166delinsLeuTer)	2896	GRN	Pathogenic	-1	RCV002613498;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427817	42427818	NC_000017.10:g.42427819_42427843dup	-
NM_002087.4(GRN):c.474T>C (p.Cys158_Glu159=)	2896	GRN	Likely benign	-1	RCV002923801;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427821	42427821	NC_000017.10:g.42427821T>C	-
NM_002087.4(GRN):c.493T>C (p.Cys165Arg)	2896	GRN	Uncertain significance	-1	RCV001905974;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427840	42427840	42427840	-
NM_002087.4(GRN):c.497C>T (p.Pro166Leu)	2896	GRN	Uncertain significance	rs368705304	RCV000402382\|RCV001850729;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427844	42427844	NC_000017.10:g.42427844C>T	ClinGen:CA8601917	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.498G>A (p.Pro166=)	2896	GRN	Likely benign	-1	RCV002076180;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427845	42427845	42427845	-
NM_002087.4(GRN):c.501C>T (p.His167=)	2896	GRN	Likely benign	-1	RCV001405589;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427848	42427848	42427848	-
NM_002087.4(GRN):c.502G>A (p.Gly168Ser)	2896	GRN	Uncertain significance	-1	RCV002016673;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427849	42427849	42427849	-
NM_002087.4(GRN):c.502_503insT (p.Gly168fs)	2896	GRN	Likely pathogenic	-1	RCV002512431;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427849	42427850	NC_000017.10:g.42427849_42427850insT	-
NM_002087.4(GRN):c.507C>G (p.Ala169=)	2896	GRN	Likely benign	rs113426443	RCV001218441;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427854	42427854	17:g.42427854C>G	-
NM_002087.4(GRN):c.513C>T (p.Cys171=)	2896	GRN	Likely benign	rs147974849	RCV000533654\|RCV002316578;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42427860	42427860	NC_000017.10:g.42427860C>T	ClinGen:CA8601923	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.520G>A (p.Val174Ile)	2896	GRN	Uncertain significance	-1	RCV002846347;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427867	42427867	NC_000017.10:g.42427867G>A	-
NM_002087.4(GRN):c.529C>T (p.Arg177Cys)	2896	GRN	Uncertain significance	-1	RCV002021418;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427876	42427876	42427876	-
NM_002087.4(GRN):c.530G>A (p.Arg177His)	2896	GRN	Uncertain significance	-1	RCV001907975;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427877	42427877	42427877	-
NM_002087.4(GRN):c.545C>T (p.Thr182Met)	2896	GRN	Benign/Likely benign	rs63750479	RCV000084447\|RCV000295460\|RCV001089192\|RCV002316278;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH	17	42427892	42427892	17:g.42427892C>T	ClinGen:CA225254,UniProtKB:P28799#VAR_064630	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.545C>G (p.Thr182Arg)	2896	GRN	Uncertain significance	-1	RCV002299329;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427892	42427892	42427892	-
NM_002087.4(GRN):c.546G>A (p.Thr182=)	2896	GRN	Benign/Likely benign	rs138473783	RCV000241937\|RCV000576787\|RCV000876309\|RCV001731549\|RCV002311379;	N	MedGen:CN169374\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MedG	17	42427893	42427893	17:g.42427893G>A	ClinGen:CA8601926	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.549C>T (p.Gly183=)	2896	GRN	Uncertain significance	-1	RCV001915891;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427896	42427896	42427896	-
NM_002087.4(GRN):c.552C>T (p.Thr184=)	2896	GRN	Likely benign	-1	RCV002189628\|RCV002346361;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42427899	42427899	42427899	-
NM_002087.4(GRN):c.559dup (p.Leu187fs)	2896	GRN	Uncertain significance	rs2048362758	RCV001262996;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427901	42427902	17:g.42427901_42427902insC	-
NM_002087.4(GRN):c.554A>G (p.His185Arg)	2896	GRN	Uncertain significance	-1	RCV002628925;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427901	42427901	NC_000017.10:g.42427901A>G	-
NM_002087.4(GRN):c.555C>T (p.His185=)	2896	GRN	Likely benign	-1	RCV002102657;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427902	42427902	42427902	-
NM_002087.4(GRN):c.562G>A (p.Ala188Thr)	2896	GRN	Uncertain significance	-1	RCV003042411;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42427909	42427909	NC_000017.10:g.42427909G>A	-
NM_002087.4(GRN):c.568A>C (p.Lys190Gln)	2896	GRN	Uncertain significance	rs768727709	RCV001862028\|RCV002314435;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42427915	42427915	NC_000017.10:g.42427915A>C	-
NM_002087.4(GRN):c.573C>T (p.Leu191_Pro192=)	2896	GRN	Likely benign	-1	RCV002589122;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427920	42427920	NC_000017.10:g.42427920C>T	-
NM_002087.4(GRN):c.582G>A (p.Gln194_Arg195=)	2896	GRN	Likely benign	-1	RCV002898689;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427929	42427929	NC_000017.10:g.42427929G>A	-
NM_002087.4(GRN):c.591C>G (p.Asn197Lys)	2896	GRN	Uncertain significance	-1	RCV003073360;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42427938	42427938	NC_000017.10:g.42427938C>G	-
NM_002087.4(GRN):c.599-18C>T	2896	GRN	Likely benign	-1	RCV002912801;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428041	42428041	NC_000017.10:g.42428041C>T	-
NM_002087.4(GRN):c.599-2A>G	2896	GRN	Pathogenic	-1	RCV002267555;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428057	42428057	42428057	-
NM_002087.4(GRN):c.614C>A (p.Ser205Ter)	2896	GRN	Pathogenic	-1	RCV001384779;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428074	42428074	42428074	-
NM_002087.4(GRN):c.614C>T (p.Ser205Leu)	2896	GRN	Uncertain significance	-1	RCV002730689;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428074	42428074	NC_000017.10:g.42428074C>T	-
NM_002087.4(GRN):c.615G>A (p.Ser205=)	2896	GRN	Likely benign	rs372963871	RCV001862089\|RCV002318320;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42428075	42428075	NC_000017.10:g.42428075G>A	-
NM_002087.4(GRN):c.620T>C (p.Met207Thr)	2896	GRN	Uncertain significance	-1	RCV001978142;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428080	42428080	42428080	-
NM_002087.4(GRN):c.626C>T (p.Pro209Leu)	2896	GRN	Conflicting interpretations of pathogenicity	rs368995988	RCV001125934\|RCV001472771\|RCV002365805;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:	17	42428086	42428086	17:g.42428086C>T	-
NM_002087.4(GRN):c.627G>A (p.Pro209=)	2896	GRN	Uncertain significance	-1	RCV002021371;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428087	42428087	42428087	-
NM_002087.4(GRN):c.630C>T (p.Asp210=)	2896	GRN	Likely benign	rs768056183	RCV000898651\|RCV002065660;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428090	42428090	17:g.42428090C>T	-
NM_002087.4(GRN):c.632C>T (p.Ala211Val)	2896	GRN	Uncertain significance	-1	RCV002975833;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428092	42428092	NC_000017.10:g.42428092C>T	-
NM_002087.4(GRN):c.634C>T (p.Arg212Trp)	2896	GRN	Uncertain significance	rs139375860	RCV001862034\|RCV002314573;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42428094	42428094	NC_000017.10:g.42428094C>T	-
NM_002087.4(GRN):c.635G>A (p.Arg212Gln)	2896	GRN	Uncertain significance	rs63750787	RCV000084448\|RCV000815880\|RCV002513901;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42428095	42428095	17:g.42428095G>A	ClinGen:CA225257	CN517202 not provided;
NM_002087.4(GRN):c.636G>A (p.Arg212_Ser213=)	2896	GRN	Likely benign	-1	RCV002899332;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428096	42428096	NC_000017.10:g.42428096G>A	-
NM_002087.4(GRN):c.640C>T (p.Arg214Trp)	2896	GRN	Uncertain significance	-1	RCV003076593;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428100	42428100	NC_000017.10:g.42428100C>T	-
NM_002087.4(GRN):c.641G>A (p.Arg214Gln)	2896	GRN	Uncertain significance	rs1211576020	RCV001215304;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428101	42428101	17:g.42428101G>A	-
NM_002087.4(GRN):c.650A>T (p.Asp217Val)	2896	GRN	Uncertain significance	-1	RCV003035420;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428110	42428110	NC_000017.10:g.42428110A>T	-
NM_002087.4(GRN):c.657T>A (p.Ser219_Thr220=)	2896	GRN	Likely benign	-1	RCV002863834;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428117	42428117	NC_000017.10:g.42428117T>A	-
NM_002087.4(GRN):c.658A>G (p.Thr220Ala)	2896	GRN	Uncertain significance	-1	RCV002022155;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428118	42428118	42428118	-
NM_002087.4(GRN):c.660C>G (p.Thr220=)	2896	GRN	Likely benign	-1	RCV002082840;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428120	42428120	42428120	-
NM_002087.4(GRN):c.662G>C (p.Cys221Ser)	2896	GRN	Uncertain significance	rs758322775	RCV001204178;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428122	42428122	17:g.42428122G>C	-
NM_002087.4(GRN):c.673C>T (p.Pro225Ser)	2896	GRN	Uncertain significance	-1	RCV002305324;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428133	42428133	42428133	-
NM_002087.4(GRN):c.675_676del (p.Ser226fs)	2896	GRN	Pathogenic	rs63751085	RCV000017391\|RCV000084584\|RCV000995782\|RCV001064002;	N	MONDO:MONDO:0019806,MedGen:C0282513, Orphanet:95432\|MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539	17	42428135	42428136	17:g.42428135_42428136del	OMIM:138945.0013,ClinGen:CA225522	CN517202 not provided;
NM_002087.4(GRN):c.680G>A (p.Gly227Glu)	2896	GRN	Uncertain significance	-1	RCV002745301;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428140	42428140	NC_000017.10:g.42428140G>A	-
NM_002087.4(GRN):c.690C>T (p.Gly230=)	2896	GRN	Likely benign	rs956842924	RCV000959356\|RCV002066355\|RCV002372664;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42428150	42428150	17:g.42428150C>T	-
NM_002087.4(GRN):c.691T>C (p.Cys231Arg)	2896	GRN	Uncertain significance	-1	RCV002995042;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428151	42428151	NC_000017.10:g.42428151T>C	-
NM_002087.4(GRN):c.698C>A (p.Pro233Gln)	2896	GRN	Uncertain significance	rs63750455	RCV000084450\|RCV001854475\|RCV002316279;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42428158	42428158	17:g.42428158C>A	ClinGen:CA225263	CN517202 not provided;
NM_002087.4(GRN):c.701T>G (p.Met234Arg)	2896	GRN	Uncertain significance	-1	RCV001926942;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428161	42428161	42428161	-
NM_002087.4(GRN):c.705C>A (p.Pro235=)	2896	GRN	Benign/Likely benign	rs148507354	RCV000517062\|RCV000874915\|RCV001410336\|RCV002367718;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42428165	42428165	NC_000017.10:g.42428165C>A	ClinGen:CA8601975	CN169374 not specified;
NM_002087.4(GRN):c.708C>T (p.Asn236=)	2896	GRN	Likely benign	rs63750744	RCV000084451\|RCV002514498;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428168	42428168	17:g.42428168C>T	ClinGen:CA225266	CN517202 not provided;
NM_002087.4(GRN):c.708+1G>C	2896	GRN	Pathogenic	rs63749817	RCV000084452\|RCV001384760;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428169	42428169	17:g.42428169G>C	ClinGen:CA225269	CN517202 not provided;
NM_002087.4(GRN):c.708+1G>A	2896	GRN	Pathogenic/Likely pathogenic	rs63749817	RCV000185615\|RCV000513518\|RCV000503399;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428169	42428169	17:g.42428169G>A	ClinGen:CA275539	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.708+6_708+9del	2896	GRN	Pathogenic/Likely pathogenic	rs778599933	RCV000712530\|RCV000822240\|RCV002360847;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42428169	42428172	NC_000017.10:g.42428170TGAG[1]	-
NM_002087.4(GRN):c.708+2dup	2896	GRN	Uncertain significance	-1	RCV001977176;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428169	42428170	42428169	-
NM_002087.4(GRN):c.708+8A>T	2896	GRN	Benign	rs370878457	RCV000874038\|RCV002064751;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428176	42428176	17:g.42428176A>T	-
NM_002087.4(GRN):c.708+15G>A	2896	GRN	Likely benign	-1	RCV002104684;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428183	42428183	42428183	-
NM_002087.4(GRN):c.708+20C>T	2896	GRN	Likely benign	-1	RCV003063455;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428188	42428188	NC_000017.10:g.42428188C>T	-
NM_002087.4(GRN):c.709-12G>C	2896	GRN	Conflicting interpretations of pathogenicity	rs771557106	RCV001125935\|RCV001579636\|RCV002070054;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428393	42428393	17:g.42428393G>C	-
NM_002087.4(GRN):c.709-4_713del	2896	GRN	Pathogenic	rs1598364296	RCV000995783;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428397	42428405	17:g.42428397_42428405del	-
NM_002087.4(GRN):c.709-8C>T	2896	GRN	Likely benign	-1	RCV002189276;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428397	42428397	42428397	-
NM_002087.4(GRN):c.709-2A>G	2896	GRN	Pathogenic	rs63750548	RCV000084453\|RCV000704513\|RCV000995784\|RCV001824019;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MOND	17	42428403	42428403	17:g.42428403A>G	ClinGen:CA225270,OMIM:138945.0012,OMIM:138945.0014	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.709-1G>A	2896	GRN	Pathogenic	-1	RCV000022595;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428404	42428404	NC_000017.10:g.42428404G>A	OMIM:138945.0019	C1843792 607485 Frontotemporal dementia, ubiquitin-positive;
NM_002087.4(GRN):c.711del (p.Thr238fs)	2896	GRN	Pathogenic	-1	RCV003036084;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428406	42428406	NC_000017.10:g.42428407del	-
NM_002087.4(GRN):c.713C>T (p.Thr238Ile)	2896	GRN	Uncertain significance	-1	RCV002618784;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428409	42428409	NC_000017.10:g.42428409C>T	-
NM_002087.4(GRN):c.723C>T (p.Ser241=)	2896	GRN	Likely benign	rs200408271	RCV000877445\|RCV001288262;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MedGen:CN517202	17	42428419	42428419	17:g.42428419C>T	-
NM_002087.4(GRN):c.741C>T (p.Cys247_Pro248=)	2896	GRN	Likely benign	-1	RCV003112873;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428437	42428437	NC_000017.10:g.42428437C>T	-
NM_002087.4(GRN):c.743C>T (p.Pro248Leu)	2896	GRN	Uncertain significance	rs63750344	RCV000084454\|RCV002514499;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428439	42428439	17:g.42428439C>T	ClinGen:CA225271	CN517202 not provided;
NM_002087.4(GRN):c.744C>G (p.Pro248_Gln249=)	2896	GRN	Likely benign	-1	RCV002947738;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428440	42428440	NC_000017.10:g.42428440C>G	-
NM_002087.4(GRN):c.759_760del (p.Cys253_Asp254delinsTer)	2896	GRN	Pathogenic	rs63751035	RCV000084455\|RCV000736250\|RCV000995785;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428449	42428450	17:g.42428449_42428450del	ClinGen:CA225274	CN517202 not provided;
NM_002087.4(GRN):c.753T>C (p.Thr251_Val252=)	2896	GRN	Likely benign	-1	RCV002885733;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428449	42428449	NC_000017.10:g.42428449T>C	-
NM_002087.4(GRN):c.768_769dup (p.Gln257fs)	2896	GRN	Pathogenic	rs1567887004	RCV000989928\|RCV000992528\|RCV001858715;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428463	42428464	17:g.42428463_42428464insCC	-
NM_002087.4(GRN):c.775_778del (p.Lys259fs)	2896	GRN	Pathogenic	-1	RCV001953608;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428468	42428471	42428467	-
NM_002087.4(GRN):c.773G>A (p.Ser258Asn)	2896	GRN	Uncertain significance	rs63751000	RCV000084456\|RCV001854476;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428469	42428469	17:g.42428469G>A	ClinGen:CA225275	CN517202 not provided;
NM_002087.4(GRN):c.781C>T (p.Leu261Phe)	2896	GRN	Uncertain significance	-1	RCV002947924;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428477	42428477	NC_000017.10:g.42428477C>T	-
NM_002087.4(GRN):c.784T>C (p.Ser262Pro)	2896	GRN	Uncertain significance	-1	RCV003112874;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428480	42428480	NC_000017.10:g.42428480T>C	-
NM_002087.4(GRN):c.784_787del (p.Ser262fs)	2896	GRN	Pathogenic	-1	RCV003032940;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428480	42428483	NC_000017.10:g.42428480_42428483del	-
NM_002087.4(GRN):c.795C>T (p.Asn265_Ala266=)	2896	GRN	Likely benign	-1	RCV003116198;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428491	42428491	NC_000017.10:g.42428491C>T	-
NM_002087.4(GRN):c.796G>C (p.Ala266Pro)	2896	GRN	Uncertain significance	-1	RCV001883987\|RCV003136255;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MedGen:CN517202	17	42428492	42428492	42428492	-
NM_002087.4(GRN):c.796G>A (p.Ala266Thr)	2896	GRN	Uncertain significance	-1	RCV001959810;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428492	42428492	42428492	-
NM_002087.4(GRN):c.803C>T (p.Thr268Met)	2896	GRN	Uncertain significance	rs202006119	RCV000817892\|RCV002318177\|RCV002473126;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	17	42428499	42428499	NC_000017.10:g.42428499C>T	-
NM_002087.4(GRN):c.804G>A (p.Thr268=)	2896	GRN	Likely benign	rs63750229	RCV000084458\|RCV002513902;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428500	42428500	17:g.42428500G>A	ClinGen:CA225281	CN517202 not provided;
NM_002087.4(GRN):c.808C>T (p.Leu270Phe)	2896	GRN	Uncertain significance	rs1567887059	RCV000692383;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428504	42428504	NC_000017.10:g.42428504C>T	-	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.813_816del (p.Thr272fs)	2896	GRN	Pathogenic	rs63749877	RCV000017394\|RCV000017393\|RCV000029169\|RCV000084585\|RCV001851888;	N	MONDO:MONDO:0019806,MedGen:C0282513, Orphanet:95432\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C35	17	42428507	42428510	17:g.42428507_42428510del	ClinGen:CA126151,OMIM:138945.0015	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.817A>G (p.Lys273Glu)	2896	GRN	Uncertain significance	-1	RCV002676850;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428513	42428513	NC_000017.10:g.42428513A>G	-
NM_002087.4(GRN):c.824C>T (p.Pro275Leu)	2896	GRN	Uncertain significance	-1	RCV002938221;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428520	42428520	NC_000017.10:g.42428520C>T	-
NM_002087.4(GRN):c.827C>T (p.Ala276Val)	2896	GRN	Uncertain significance	rs202178902	RCV001862050\|RCV002315486;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42428523	42428523	NC_000017.10:g.42428523C>T	-
NM_002087.4(GRN):c.828G>A (p.Ala276_His277=)	2896	GRN	Likely benign	-1	RCV003058663;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428524	42428524	NC_000017.10:g.42428524G>A	-
NM_002087.4(GRN):c.835+1G>A	2896	GRN	Likely pathogenic	rs606231221	RCV000017385\|RCV002513075;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428532	42428532	NC_000017.10:g.42428532G>A	ClinGen:CA257408,OMIM:138945.0007	C1843792 607485 Frontotemporal dementia, ubiquitin-positive;
NM_002087.4(GRN):c.835+7G>A	2896	GRN	Benign	rs72824736	RCV000251396\|RCV000544007\|RCV000576526\|RCV000675677;	N	MedGen:CN169374\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedG	17	42428538	42428538	NC_000017.10:g.42428538G>A	ClinGen:CA8602024	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.835+14G>C	2896	GRN	Uncertain significance	rs753286440	RCV001128035;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428545	42428545	17:g.42428545G>C	-
NM_002087.4(GRN):c.836-14T>G	2896	GRN	Likely benign	-1	RCV003046667;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428717	42428717	NC_000017.10:g.42428717T>G	-
NM_002087.4(GRN):c.836-8C>T	2896	GRN	Likely benign	-1	RCV001422935;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428723	42428723	42428723	-
NM_002087.4(GRN):c.836-7C>T	2896	GRN	Likely benign	-1	RCV002137476;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428724	42428724	42428724	-
NM_002087.4(GRN):c.836-3C>T	2896	GRN	Uncertain significance	rs771907059	RCV000796769\|RCV001288263;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202	17	42428728	42428728	17:g.42428728C>T	-
NM_002087.4(GRN):c.836-1G>C	2896	GRN	Pathogenic	rs63751296	RCV000084460\|RCV000699101;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428730	42428730	17:g.42428730G>C	ClinGen:CA225285	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.857T>C (p.Met286Thr)	2896	GRN	Uncertain significance	-1	RCV002647321;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428752	42428752	NC_000017.10:g.42428752T>C	-
NM_002087.4(GRN):c.861G>C (p.Glu287Asp)	2896	GRN	Uncertain significance	rs63750565	RCV000084461\|RCV002514500;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428756	42428756	17:g.42428756G>C	ClinGen:CA225286	CN517202 not provided;
NM_002087.4(GRN):c.873A>T (p.Pro291=)	2896	GRN	Likely benign	-1	RCV002092249;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428768	42428768	42428768	-
NM_002087.4(GRN):c.879C>G (p.Gly293=)	2896	GRN	Uncertain significance	-1	RCV001998595;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428774	42428774	42428774	-
NM_002087.4(GRN):c.881A>G (p.Tyr294Cys)	2896	GRN	Uncertain significance	-1	RCV001902803;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428776	42428776	42428776	-
NM_002087.4(GRN):c.882T>G (p.Tyr294Ter)	2896	GRN	Pathogenic	rs794729670	RCV000185611\|RCV001254078;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428777	42428777	17:g.42428777T>G	ClinGen:CA275531	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.882T>C (p.Tyr294=)	2896	GRN	Likely benign	-1	RCV002111539;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428777	42428777	42428777	-
NM_002087.4(GRN):c.891C>T (p.Cys297=)	2896	GRN	Likely benign	rs1341898712	RCV000882920\|RCV002065481;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428786	42428786	17:g.42428786C>T	-
NM_002087.4(GRN):c.892C>T (p.Arg298Cys)	2896	GRN	Uncertain significance	rs768033215	RCV002317615\|RCV002533054;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428787	42428787	NC_000017.10:g.42428787C>T	-
NM_002087.4(GRN):c.893G>A (p.Arg298His)	2896	GRN	Uncertain significance	-1	RCV002942049;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428788	42428788	NC_000017.10:g.42428788G>A	-
NM_002087.4(GRN):c.895C>T (p.Leu299_Gln300=)	2896	GRN	Likely benign	-1	RCV003007251;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428790	42428790	NC_000017.10:g.42428790C>T	-
NM_002087.4(GRN):c.898C>T (p.Gln300Ter)	2896	GRN	Pathogenic	rs1555611253	RCV000517994\|RCV001218285;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428793	42428793	NC_000017.10:g.42428793C>T	ClinGen:CA399764943	CN517202 not provided;
NM_002087.4(GRN):c.902C>T (p.Ser301Leu)	2896	GRN	Uncertain significance	-1	RCV002006513;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428797	42428797	42428797	-
NM_002087.4(GRN):c.903G>A (p.Ser301=)	2896	GRN	Benign/Likely benign	rs63750142	RCV000084462\|RCV000516232\|RCV001086995\|RCV001128036\|RCV002316280;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070,O	17	42428798	42428798	17:g.42428798G>A	ClinGen:CA225289	CN517202 not provided;
NM_002087.4(GRN):c.907del (p.Ala303fs)	2896	GRN	Pathogenic	rs1555611256	RCV000504273;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428798	42428798	NC_000017.10:g.42428802delG	ClinGen:CA645373213	C1843792 607485 Frontotemporal dementia, ubiquitin-positive;
NM_002087.4(GRN):c.910_911dup (p.Trp304fs)	2896	GRN	Pathogenic	-1	RCV002578950;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428804	42428805	NC_000017.10:g.42428805_42428806dup	-
NM_002087.4(GRN):c.911G>A (p.Trp304Ter)	2896	GRN	Pathogenic	rs63751177	RCV000084465\|RCV001854477;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428806	42428806	17:g.42428806G>A	ClinGen:CA225294	CN517202 not provided;
NM_002087.4(GRN):c.918C>A (p.Cys306Ter)	2896	GRN	Pathogenic	rs1598364782	RCV000995558;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428813	42428813	17:g.42428813C>A	-
NM_002087.4(GRN):c.932A>T (p.Gln311Leu)	2896	GRN	Uncertain significance	-1	RCV002647350;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428827	42428827	NC_000017.10:g.42428827A>T	-
NM_002087.4(GRN):c.933+1G>A	2896	GRN	Likely pathogenic	rs63750707	RCV000084466\|RCV000697778;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428829	42428829	17:g.42428829G>A	ClinGen:CA225297	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.933+5C>T	2896	GRN	Uncertain significance	-1	RCV002735015;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428833	42428833	NC_000017.10:g.42428833C>T	-
NM_002087.4(GRN):c.933+7del	2896	GRN	Likely benign	rs762910178	RCV002530207;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428835	42428835	NC_000017.10:g.42428835del	ClinGen:CA8602062	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.933+7A>T	2896	GRN	Likely benign	rs1598364800	RCV000933973;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428835	42428835	17:g.42428835A>T	-
NM_002087.4(GRN):c.933+11del	2896	GRN	Benign	-1	RCV002918881;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428836	42428836	NC_000017.10:g.42428839del	-
NM_002087.4(GRN):c.933+11G>A	2896	GRN	Likely benign	-1	RCV002215371;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428839	42428839	42428839	-
NM_002087.4(GRN):c.933+15C>T	2896	GRN	Conflicting interpretations of pathogenicity	rs1306228988	RCV001128037\|RCV001856671;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428843	42428843	17:g.42428843C>T	-
NM_002087.4(GRN):c.933+16G>A	2896	GRN	Likely benign	-1	RCV002691013;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428844	42428844	NC_000017.10:g.42428844G>A	-
NM_002087.4(GRN):c.934-11_936del	2896	GRN	Likely pathogenic	-1	RCV002842324;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428907	42428920	NC_000017.10:g.42428907_42428920del	-
NM_002087.4(GRN):c.934-8del	2896	GRN	Likely benign	-1	RCV001440420;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428910	42428910	42428909	-
NM_002087.4(GRN):c.934-1G>A	2896	GRN	Pathogenic	-1	RCV001996070;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428917	42428917	42428917	-
NM_002087.4(GRN):c.954C>T (p.His318_Ile319=)	2896	GRN	Likely benign	-1	RCV002722024;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428938	42428938	NC_000017.10:g.42428938C>T	-
NM_002087.4(GRN):c.969C>T (p.Pro323=)	2896	GRN	Likely benign	-1	RCV002218551;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428953	42428953	42428953	-
NM_002087.4(GRN):c.970G>A (p.Ala324Thr)	2896	GRN	Conflicting interpretations of pathogenicity	rs63750541	RCV000084468\|RCV000706214\|RCV001128038\|RCV001727569\|RCV002381407;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedG	17	42428954	42428954	17:g.42428954G>A	ClinGen:CA225301	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.981G>A (p.Thr327=)	2896	GRN	Likely benign	-1	RCV002187679;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428965	42428965	42428965	-
NM_002087.4(GRN):c.989C>T (p.Thr330Met)	2896	GRN	Uncertain significance	-1	RCV001888643;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428973	42428973	42428973	-
NM_002087.4(GRN):c.990G>A (p.Thr330=)	2896	GRN	Likely benign	-1	RCV002165413;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428974	42428974	42428974	-
NM_002087.4(GRN):c.991C>T (p.Gln331Ter)	2896	GRN	Pathogenic	rs1567887496	RCV000690502;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428975	42428975	17:g.42428975C>T	-	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.998G>T (p.Gly333Val)	2896	GRN	Uncertain significance	-1	RCV002615860;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428982	42428982	NC_000017.10:g.42428982G>T	-
NM_002087.4(GRN):c.1001C>T (p.Thr334Ile)	2896	GRN	Uncertain significance	-1	RCV002721006;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428985	42428985	NC_000017.10:g.42428985C>T	-
NM_002087.4(GRN):c.1010_1011del (p.Gln337fs)	2896	GRN	Pathogenic/Likely pathogenic	rs1598364961	RCV000992524\|RCV002550639;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42428994	42428995	17:g.42428994_42428995del	-
NM_002087.4(GRN):c.1019A>T (p.His340Leu)	2896	GRN	Conflicting interpretations of pathogenicity	rs775196555	RCV001128039\|RCV001856672\|RCV002365806;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:	17	42429003	42429003	17:g.42429003A>T	-
NM_002087.4(GRN):c.1019A>G (p.His340Arg)	2896	GRN	Uncertain significance	-1	RCV002034077;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429003	42429003	42429003	-
NM_002087.4(GRN):c.1020C>T (p.His340_Gln341=)	2896	GRN	Likely benign	-1	RCV002851858;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429004	42429004	NC_000017.10:g.42429004C>T	-
NM_002087.4(GRN):c.1036_1038del (p.Glu346del)	2896	GRN	Uncertain significance	rs751373342	RCV000512785\|RCV002476024;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429019	42429021	17:g.42429019_42429021del	ClinGen:CA8602090	CN517202 not provided;
NM_002087.4(GRN):c.1041G>A (p.Lys347_Ala348=)	2896	GRN	Likely benign	-1	RCV002931932;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429025	42429025	NC_000017.10:g.42429025G>A	-
NM_002087.4(GRN):c.1059C>G (p.Ser353Arg)	2896	GRN	Uncertain significance	-1	RCV002623945;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429043	42429043	NC_000017.10:g.42429043C>G	-
NM_002087.4(GRN):c.1060C>T (p.Leu354_Pro355=)	2896	GRN	Likely benign	-1	RCV003063696;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429044	42429044	NC_000017.10:g.42429044C>T	-
NM_002087.4(GRN):c.1071A>T (p.Pro357=)	2896	GRN	Likely benign	rs765677842	RCV002540059;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429055	42429055	17:g.42429055A>T	-
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter)	2896	GRN	Pathogenic/Likely pathogenic	rs1555611293	RCV000517776\|RCV002527479;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429056	42429056	17:g.42429056C>T	ClinGen:CA399765702	CN517202 not provided;
NM_002087.4(GRN):c.1080G>C (p.Leu360Phe)	2896	GRN	Uncertain significance	-1	RCV002029010;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429064	42429064	42429064	-
NM_002087.4(GRN):c.1087_1088del (p.Asp363fs)	2896	GRN	Uncertain significance	rs1567887576	RCV000778498;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429066	42429067	NC_000017.10:g.42429067GA[2]	-
NM_002087.4(GRN):c.1112G>C (p.Ser371Thr)	2896	GRN	Conflicting interpretations of pathogenicity	rs149023078	RCV000992525\|RCV001869374\|RCV002550640;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42429096	42429096	17:g.42429096G>C	-
NM_002087.4(GRN):c.1117C>A (p.Pro373Thr)	2896	GRN	Uncertain significance	-1	RCV002584860;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429101	42429101	NC_000017.10:g.42429101C>A	-
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del)	2896	GRN	Uncertain significance	rs754862784	RCV000310685\|RCV002317839\|RCV002522980;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485,	17	42429102	42429104	NC_000017.10:g.42429104TCC[1]	ClinGen:CA8602103
NM_002087.4(GRN):c.1125C>T (p.Ser375=)	2896	GRN	Likely benign	-1	RCV002138813;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429109	42429109	42429109	-
NM_002087.4(GRN):c.1126G>A (p.Asp376Asn)	2896	GRN	Likely benign	rs143030899	RCV000876798\|RCV002064867\|RCV002444966;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42429110	42429110	17:g.42429110G>A	-
NM_002087.4(GRN):c.1138C>G (p.Gln380Glu)	2896	GRN	Uncertain significance	-1	RCV001367112;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429122	42429122	42429122	-
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs)	2896	GRN	Pathogenic	rs63749905	RCV000017389\|RCV000084472\|RCV001854478;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429127	42429128	17:g.42429127_42429128insA	ClinGen:CA225311,OMIM:138945.0011	CN517202 not provided;
NM_002087.4(GRN):c.1145del (p.Thr382fs)	2896	GRN	Pathogenic	rs63750805	RCV000084473\|RCV001384761;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429129	42429129	17:g.42429129_42429129del	ClinGen:CA225312	CN517202 not provided;
NM_002087.4(GRN):c.1145C>T (p.Thr382Met)	2896	GRN	Uncertain significance	-1	RCV002036950;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429129	42429129	42429129	-
NM_002087.4(GRN):c.1146G>A (p.Thr382=)	2896	GRN	Likely benign	rs200308105	RCV000934353\|RCV001398870;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429130	42429130	17:g.42429130G>A	-
NM_002087.4(GRN):c.1153del (p.Glu385fs)	2896	GRN	Pathogenic	-1	RCV001872638;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429134	42429134	42429133	-
NM_002087.4(GRN):c.1152G>T (p.Gly384=)	2896	GRN	Uncertain significance	-1	RCV001994418;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429136	42429136	42429136	-
NM_002087.4(GRN):c.1152G>A (p.Gly384_Glu385=)	2896	GRN	Likely benign	-1	RCV002725704;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429136	42429136	NC_000017.10:g.42429136G>A	-
NM_002087.4(GRN):c.1158G>A (p.Trp386Ter)	2896	GRN	Pathogenic	-1	RCV003035999;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429142	42429142	NC_000017.10:g.42429142G>A	-
NM_002087.4(GRN):c.1179+1G>C	2896	GRN	Likely pathogenic	-1	RCV002833411;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429164	42429164	NC_000017.10:g.42429164G>C	-
NM_002087.4(GRN):c.1179+4_1179+8del	2896	GRN	Uncertain significance	rs752440929	RCV001069975;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429167	42429171	17:g.42429167_42429171del	-
NM_002087.4(GRN):c.1179+6T>C	2896	GRN	Uncertain significance	rs765761482	RCV000365450;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429169	42429169	NC_000017.10:g.42429169T>C	ClinGen:CA8602115	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.1179+15del	2896	GRN	Likely benign	-1	RCV002619758;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429178	42429178	NC_000017.10:g.42429178del	-
NM_002087.4(GRN):c.1180-16C>A	2896	GRN	Likely benign	-1	RCV002129427;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429367	42429367	42429367	-
NM_002087.4(GRN):c.1180-12C>T	2896	GRN	Likely benign	-1	RCV003017475;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429371	42429371	NC_000017.10:g.42429371C>T	-
NM_002087.4(GRN):c.1180-8C>A	2896	GRN	Uncertain significance	rs774308165	RCV001128040;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429375	42429375	17:g.42429375C>A	-
NM_002087.4(GRN):c.1180-8C>T	2896	GRN	Uncertain significance	rs774308165	RCV001128041;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429375	42429375	17:g.42429375C>T	-
NM_002087.4(GRN):c.1180-3del	2896	GRN	Benign	-1	RCV002942887;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429375	42429375	NC_000017.10:g.42429380del	-
NM_002087.4(GRN):c.1180-7C>G	2896	GRN	Likely benign	-1	RCV001940794;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429376	42429376	42429376	-
NM_002087.4(GRN):c.1180-3C>T	2896	GRN	Uncertain significance	rs368307425	RCV001868358\|RCV002318665;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42429380	42429380	NC_000017.10:g.42429380C>T	-
NM_002087.4(GRN):c.1193C>T (p.Ser398Leu)	2896	GRN	Uncertain significance	rs148213321	RCV001204370\|RCV002339512;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42429396	42429396	17:g.42429396C>T	-
NM_002087.4(GRN):c.1194G>A (p.Ser398_Asp399=)	2896	GRN	Likely benign	-1	RCV002790498;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429397	42429397	NC_000017.10:g.42429397G>A	-
NM_002087.4(GRN):c.1197C>A (p.Asp399Glu)	2896	GRN	Uncertain significance	-1	RCV001991230;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429400	42429400	42429400	-
NM_002087.4(GRN):c.1216C>T (p.Gln406Ter)	2896	GRN	Pathogenic	-1	RCV001970022;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429419	42429419	42429419	-
NM_002087.4(GRN):c.1221C>A (p.Gly407=)	2896	GRN	Likely benign	-1	RCV002116334;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429424	42429424	42429424	-
NM_002087.4(GRN):c.1226C>T (p.Thr409Met)	2896	GRN	Uncertain significance	rs373885474	RCV001071688;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429429	42429429	17:g.42429429C>T	-
NM_002087.4(GRN):c.1227G>A (p.Thr409=)	2896	GRN	Benign/Likely benign	rs140298583	RCV000242834\|RCV000576303\|RCV000876310\|RCV001550419\|RCV002311378;	N	MedGen:CN169374\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MedG	17	42429430	42429430	17:g.42429430G>A	ClinGen:CA8602149	C1843792 607485 Frontotemporal dementia, ubiquitin-positive;
NM_002087.4(GRN):c.1227G>T (p.Thr409_Cys410=)	2896	GRN	Likely benign	-1	RCV002366795\|RCV003098318;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429430	42429430	42429430	-
NM_002087.4(GRN):c.1241G>T (p.Gly414Val)	2896	GRN	Uncertain significance	rs63750920	RCV000084479\|RCV002513903\|RCV002513904;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42429444	42429444	17:g.42429444G>T	ClinGen:CA225324	CN517202 not provided;
NM_002087.4(GRN):c.1243C>G (p.Gln415Glu)	2896	GRN	Uncertain significance	-1	RCV001999629;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429446	42429446	42429446	-
NM_002087.4(GRN):c.1244A>T (p.Gln415Leu)	2896	GRN	Uncertain significance	-1	RCV001970521;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429447	42429447	42429447	-
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)	2896	GRN	Pathogenic	rs63751180	RCV000084480\|RCV000995559\|RCV001390599\|RCV002463638;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MOND	17	42429455	42429455	17:g.42429455C>T	ClinGen:CA225327	CN517202 not provided;
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)	2896	GRN	Conflicting interpretations of pathogenicity	rs63751100	RCV000084481\|RCV000764131\|RCV001122276\|RCV001705812\|RCV002514501;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedG	17	42429456	42429456	17:g.42429456G>A	ClinGen:CA225330	CN517202 not provided;
NM_002087.4(GRN):c.1253G>C (p.Arg418Pro)	2896	GRN	Uncertain significance	-1	RCV003100352;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429456	42429456	NC_000017.10:g.42429456G>C	-
NM_002087.4(GRN):c.1261G>A (p.Glu421Lys)	2896	GRN	Uncertain significance	-1	RCV001879151;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429464	42429464	42429464	-
NM_002087.4(GRN):c.1266C>T (p.Ile422_Val423=)	2896	GRN	Likely benign	-1	RCV002614407;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429469	42429469	NC_000017.10:g.42429469C>T	-
NM_002087.4(GRN):c.1267G>A (p.Val423Met)	2896	GRN	Uncertain significance	-1	RCV002903192;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429470	42429470	NC_000017.10:g.42429470G>A	-
NM_002087.4(GRN):c.1269G>A (p.Val423=)	2896	GRN	Likely benign	rs1472989013	RCV000941460\|RCV001438175;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429472	42429472	17:g.42429472G>A	-
NM_002087.4(GRN):c.1288C>G (p.Pro430Ala)	2896	GRN	Uncertain significance	rs200645022	RCV000519811\|RCV000764132;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429491	42429491	17:g.42429491C>G	ClinGen:CA8602163	CN169374 not specified;
NM_002087.4(GRN):c.1294C>T (p.Arg432Cys)	2896	GRN	Uncertain significance	rs63750130	RCV000084482\|RCV002316281\|RCV002514502;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429497	42429497	17:g.42429497C>T	ClinGen:CA225333	CN517202 not provided;
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp)	2896	GRN	Conflicting interpretations of pathogenicity	rs63750412	RCV000084483\|RCV000576498\|RCV001079475\|RCV002313839;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH	17	42429500	42429500	17:g.42429500C>T	ClinGen:CA225336	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.1298G>A (p.Arg433Gln)	2896	GRN	Benign/Likely benign	rs114248177	RCV000174062\|RCV000873788\|RCV002313029;	N	MedGen:CN169374\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42429501	42429501	17:g.42429501G>A	ClinGen:CA200816,UniProtKB:P28799#VAR_064635	CN169374 not specified;
NM_002087.4(GRN):c.1316C>G (p.Pro439Arg)	2896	GRN	Uncertain significance	-1	RCV002640676;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429519	42429519	NC_000017.10:g.42429519C>G	-
NM_002087.4(GRN):c.1326C>T (p.Ile442=)	2896	GRN	Likely benign	-1	RCV002220069;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429529	42429529	42429529	-
NM_002087.4(GRN):c.1326C>G (p.Ile442Met)	2896	GRN	Uncertain significance	-1	RCV002908792;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429529	42429529	NC_000017.10:g.42429529C>G	-
NM_002087.4(GRN):c.1327G>C (p.Gly443Arg)	2896	GRN	Uncertain significance	-1	RCV002629153;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429530	42429530	NC_000017.10:g.42429530G>C	-
NM_002087.4(GRN):c.1341C>T (p.His447=)	2896	GRN	Conflicting interpretations of pathogenicity	rs63750775	RCV000084484\|RCV001086557\|RCV001122277\|RCV002381408;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH	17	42429544	42429544	17:g.42429544C>T	ClinGen:CA225339	CN517202 not provided;
NM_002087.4(GRN):c.1343C>T (p.Thr448Ile)	2896	GRN	Uncertain significance	-1	RCV002751233;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429546	42429546	NC_000017.10:g.42429546C>T	-
NM_002087.4(GRN):c.1344C>T (p.Thr448_Ser449=)	2896	GRN	Likely benign	-1	RCV003112765;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429547	42429547	NC_000017.10:g.42429547C>T	-
NM_002087.4(GRN):c.1354_1374del (p.Val452_Pro458del)	2896	GRN	Uncertain significance	-1	RCV002967188;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429549	42429569	NC_000017.10:g.42429557_42429577del	-
NM_002087.4(GRN):c.1347C>G (p.Ser449Arg)	2896	GRN	Uncertain significance	-1	RCV003091181;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429550	42429550	NC_000017.10:g.42429550C>G	-
NM_002087.4(GRN):c.1352C>T (p.Pro451Leu)	2896	GRN	Uncertain significance	rs752428000	RCV000523710\|RCV002481698;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429555	42429555	17:g.42429555C>T	ClinGen:CA8602177	CN169374 not specified;
NM_002087.4(GRN):c.1355T>A (p.Val452Glu)	2896	GRN	Uncertain significance	-1	RCV001916509;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429558	42429558	42429558	-
NM_002087.4(GRN):c.1357G>A (p.Gly453Arg)	2896	GRN	Conflicting interpretations of pathogenicity	rs751072702	RCV001122278\|RCV001294896;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429560	42429560	17:g.42429560G>A	-
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu)	2896	GRN	Uncertain significance	rs63750537	RCV000084485\|RCV001122279\|RCV001854479;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429576	42429576	17:g.42429576C>T	ClinGen:CA225342	CN517202 not provided;
NM_002087.4(GRN):c.1373C>G (p.Pro458Arg)	2896	GRN	Uncertain significance	-1	RCV001971271;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429576	42429576	42429576	-
NM_002087.4(GRN):c.1374G>C (p.Pro458_Ser459=)	2896	GRN	Likely benign	-1	RCV002876705;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429577	42429577	NC_000017.10:g.42429577G>C	-
NM_002087.4(GRN):c.1374G>A (p.Pro458_Ser459=)	2896	GRN	Likely benign	-1	RCV003009095;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429577	42429577	NC_000017.10:g.42429577G>A	-
NM_002087.4(GRN):c.1395C>T (p.Ala465=)	2896	GRN	Likely benign	-1	RCV002162643;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429598	42429598	42429598	-
NM_002087.4(GRN):c.1402C>T (p.Gln468Ter)	2896	GRN	Pathogenic	rs63749908	RCV000084487\|RCV000989929;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429605	42429605	17:g.42429605C>T	ClinGen:CA225346	CN517202 not provided;
NM_002087.4(GRN):c.1409C>T (p.Pro470Leu)	2896	GRN	Uncertain significance	rs63750007	RCV000084488\|RCV001854480;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429612	42429612	17:g.42429612C>T	ClinGen:CA225349	CN517202 not provided;
NM_002087.4(GRN):c.1413+20C>T	2896	GRN	Likely benign	-1	RCV003058164;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429636	42429636	NC_000017.10:g.42429636C>T	-
NM_002087.4(GRN):c.1414-15_1591del	2896	GRN	Likely pathogenic	-1	RCV003112381;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429693	42429885	NC_000017.10:g.42429694_42429886del	-
NM_002087.4(GRN):c.1414-9C>T	2896	GRN	Likely benign	-1	RCV002650202;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429700	42429700	NC_000017.10:g.42429700C>T	-
NM_002087.4(GRN):c.1414-6C>T	2896	GRN	Likely benign	-1	RCV002838281;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429703	42429703	NC_000017.10:g.42429703C>T	-
NM_002087.4(GRN):c.1414-2A>G	2896	GRN	Pathogenic	rs1555611412	RCV000516768\|RCV000650260;	N	MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429707	42429707	17:g.42429707A>G	ClinGen:CA399769494	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.1425C>T (p.Cys475=)	2896	GRN	Likely benign	rs63751104	RCV000084490\|RCV001854481\|RCV002316282;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42429720	42429720	17:g.42429720C>T	ClinGen:CA225355	CN517202 not provided;
NM_002087.4(GRN):c.1426G>A (p.Glu476Lys)	2896	GRN	Uncertain significance	-1	RCV003065764;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429721	42429721	NC_000017.10:g.42429721G>A	-
NM_002087.4(GRN):c.1432C>T (p.Arg478Cys)	2896	GRN	Uncertain significance	rs781387612	RCV002318156\|RCV002534977;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429727	42429727	NC_000017.10:g.42429727C>T	-
NM_002087.4(GRN):c.1433G>A (p.Arg478His)	2896	GRN	Uncertain significance	-1	RCV001940170;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429728	42429728	42429728	-
NM_002087.4(GRN):c.1448C>T (p.Pro483Leu)	2896	GRN	Uncertain significance	rs774128685	RCV000712526\|RCV001861975;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429743	42429743	NC_000017.10:g.42429743C>T	-
NM_002087.4(GRN):c.1449G>A (p.Pro483=)	2896	GRN	Likely benign	rs150294858	RCV000952452\|RCV002066325;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429744	42429744	17:g.42429744G>A	-
NM_002087.4(GRN):c.1460C>T (p.Thr487Ile)	2896	GRN	Uncertain significance	-1	RCV002031067;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429755	42429755	42429755	-
NM_002087.4(GRN):c.1464C>T (p.Cys488=)	2896	GRN	Uncertain significance	-1	RCV001882029;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429759	42429759	42429759	-
NM_002087.4(GRN):c.1468G>A (p.Val490Met)	2896	GRN	Uncertain significance	rs886053006	RCV000302657\|RCV001215000;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429763	42429763	NC_000017.10:g.42429763G>A	ClinGen:CA10650271	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter)	2896	GRN	Pathogenic	rs63751294	RCV000017387\|RCV000084491\|RCV001039647;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429772	42429772	17:g.42429772C>T	ClinGen:CA225358,OMIM:138945.0009	C1843792 607485 Frontotemporal dementia, ubiquitin-positive;
NM_002087.4(GRN):c.1483T>C (p.Cys495Arg)	2896	GRN	Uncertain significance	-1	RCV002299370;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429778	42429778	42429778	-
NM_002087.4(GRN):c.1485C>T (p.Cys495=)	2896	GRN	Likely benign	rs63750576	RCV000084492\|RCV001459515;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429780	42429780	17:g.42429780C>T	ClinGen:CA225361	CN517202 not provided;
NM_002087.4(GRN):c.1486G>A (p.Glu496Lys)	2896	GRN	Uncertain significance	rs764615963	RCV000504550\|RCV002524196;	N	MedGen:CN169374\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429781	42429781	NC_000017.10:g.42429781G>A	ClinGen:CA8602220	CN169374 not specified;
NM_002087.4(GRN):c.1492_1495del (p.Glu498fs)	2896	GRN	Pathogenic	-1	RCV002695461;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429783	42429786	NC_000017.10:g.42429783GAAG[1]	-
NM_002087.4(GRN):c.1497G>C (p.Val499=)	2896	GRN	Likely benign	rs375682522	RCV002317572\|RCV002534975;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429792	42429792	NC_000017.10:g.42429792G>C	-
NM_002087.4(GRN):c.1497G>A (p.Val499=)	2896	GRN	Likely benign	-1	RCV002093295;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429792	42429792	42429792	-
NM_002087.4(GRN):c.1497G>T (p.Val499_Val500=)	2896	GRN	Likely benign	-1	RCV002389823\|RCV003095241;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429792	42429792	42429792	-
NM_002087.4(GRN):c.1499T>C (p.Val500Ala)	2896	GRN	Uncertain significance	-1	RCV002021012;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429794	42429794	42429794	-
NM_002087.4(GRN):c.1510C>G (p.Pro504Ala)	2896	GRN	Uncertain significance	rs1313083314	RCV001222859;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429805	42429805	17:g.42429805C>G	-
NM_002087.4(GRN):c.1511C>T (p.Pro504Leu)	2896	GRN	Uncertain significance	-1	RCV002727051;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429806	42429806	NC_000017.10:g.42429806C>T	-
NM_002087.4(GRN):c.1514C>G (p.Ala505Gly)	2896	GRN	Uncertain significance	-1	RCV002021709\|RCV002391132;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42429809	42429809	42429809	-
NM_002087.4(GRN):c.1515C>T (p.Ala505=)	2896	GRN	Likely benign	-1	RCV002207961\|RCV002391207;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42429810	42429810	42429810	-
NM_002087.4(GRN):c.1518C>T (p.Thr506=)	2896	GRN	Uncertain significance	rs768852944	RCV001122280;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429813	42429813	17:g.42429813C>T	-
NM_002087.4(GRN):c.1521C>T (p.Phe507=)	2896	GRN	Conflicting interpretations of pathogenicity	rs140070738	RCV001122281\|RCV002556633;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429816	42429816	17:g.42429816C>T	-
NM_002087.4(GRN):c.1527C>T (p.Ala509_Arg510=)	2896	GRN	Likely benign	-1	RCV002572444;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429822	42429822	NC_000017.10:g.42429822C>T	-
NM_002087.4(GRN):c.1528C>T (p.Arg510Cys)	2896	GRN	Uncertain significance	-1	RCV002716550;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429823	42429823	NC_000017.10:g.42429823C>T	-
NM_002087.4(GRN):c.1529G>A (p.Arg510His)	2896	GRN	Uncertain significance	-1	RCV002637750;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429824	42429824	NC_000017.10:g.42429824G>A	-
NM_002087.4(GRN):c.1539C>T (p.His513=)	2896	GRN	Likely benign	-1	RCV002126138\|RCV002400355;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42429834	42429834	42429834	-
NM_002087.4(GRN):c.1540G>A (p.Val514Met)	2896	GRN	Uncertain significance	rs142926942	RCV001330687\|RCV001862017\|RCV002312438\|RCV002510968;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:	17	42429835	42429835	NC_000017.10:g.42429835G>A	-
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala)	2896	GRN	Benign/Likely benign	rs25647	RCV000084493\|RCV000576691\|RCV001083011\|RCV001725967\|RCV002311748;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MedG	17	42429839	42429839	17:g.42429839G>C	ClinGen:CA225364,UniProtKB:P28799#VAR_014830	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.1548G>T (p.Val516=)	2896	GRN	Conflicting interpretations of pathogenicity	rs1044281109	RCV001125057\|RCV002556711;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429843	42429843	17:g.42429843G>T	-
NM_002087.4(GRN):c.1554C>T (p.Asp518_Val519=)	2896	GRN	Likely benign	-1	RCV002638228;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429849	42429849	NC_000017.10:g.42429849C>T	-
NM_002087.4(GRN):c.1555G>A (p.Val519Met)	2896	GRN	Uncertain significance	rs141111290	RCV001305766\|RCV002313574;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42429850	42429850	NC_000017.10:g.42429850G>A	-
NM_002087.4(GRN):c.1560G>T (p.Glu520Asp)	2896	GRN	Uncertain significance	rs1242287545	RCV001125058;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429855	42429855	17:g.42429855G>T	-
NM_002087.4(GRN):c.1560G>A (p.Glu520_Cys521=)	2896	GRN	Likely benign	-1	RCV002912741;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429855	42429855	NC_000017.10:g.42429855G>A	-
NM_002087.4(GRN):c.1562G>A (p.Cys521Tyr)	2896	GRN	Uncertain significance	-1	RCV001756615\|RCV001861050;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429857	42429857	42429857	-
NM_002087.4(GRN):c.1575C>T (p.His525_Phe526=)	2896	GRN	Likely benign	-1	RCV002909204;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429870	42429870	NC_000017.10:g.42429870C>T	-
NM_002087.4(GRN):c.1578C>T (p.Phe526=)	2896	GRN	Likely benign	-1	RCV001494180;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429873	42429873	42429873	-
NM_002087.4(GRN):c.1595C>A (p.Thr532Asn)	2896	GRN	Uncertain significance	-1	RCV002785568;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429890	42429890	NC_000017.10:g.42429890C>A	-
NM_002087.4(GRN):c.1600T>A (p.Cys534Ser)	2896	GRN	Uncertain significance	-1	RCV002938673;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429895	42429895	NC_000017.10:g.42429895T>A	-
NM_002087.4(GRN):c.1604G>A (p.Arg535Gln)	2896	GRN	Uncertain significance	-1	RCV001893561;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429899	42429899	42429899	-
NM_002087.4(GRN):c.1613G>A (p.Arg538Gln)	2896	GRN	Uncertain significance	-1	RCV002612284;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429908	42429908	NC_000017.10:g.42429908G>A	-
NM_002087.4(GRN):c.1630T>C (p.Cys544Arg)	2896	GRN	Uncertain significance	-1	RCV003089771;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429925	42429925	NC_000017.10:g.42429925T>C	-
NM_002087.4(GRN):c.1639C>T (p.Arg547Cys)	2896	GRN	Uncertain significance	-1	RCV003064460;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429934	42429934	NC_000017.10:g.42429934C>T	-
NM_002087.4(GRN):c.1641C>T (p.Arg547=)	2896	GRN	Conflicting interpretations of pathogenicity	rs149658268	RCV000267441\|RCV001660668\|RCV002402044;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	17	42429936	42429936	NC_000017.10:g.42429936C>T	ClinGen:CA8602254	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.1644+10A>T	2896	GRN	Likely benign	-1	RCV003064583;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429949	42429949	NC_000017.10:g.42429949A>T	-
NM_002087.4(GRN):c.1644+13C>A	2896	GRN	Likely benign	-1	RCV002162612;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42429952	42429952	42429952	-
NM_002087.4(GRN):c.1644+20C>T	2896	GRN	Likely benign	-1	RCV002843854;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42429959	42429959	NC_000017.10:g.42429959C>T	-
NM_002087.4(GRN):c.1645-20G>A	2896	GRN	Likely benign	-1	RCV002104115;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430009	42430009	42430009	-
NM_002087.4(GRN):c.1645-20G>T	2896	GRN	Likely benign	-1	RCV003023701;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430009	42430009	NC_000017.10:g.42430009G>T	-
NM_002087.4(GRN):c.1645-19C>T	2896	GRN	Likely benign	-1	RCV002735520;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430010	42430010	NC_000017.10:g.42430010C>T	-
NM_002087.4(GRN):c.1645-15C>G	2896	GRN	Likely benign	-1	RCV002210707;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430014	42430014	42430014	-
NM_002087.4(GRN):c.1647C>T (p.Gly549=)	2896	GRN	Conflicting interpretations of pathogenicity	rs745391227	RCV000317858\|RCV002522981;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430031	42430031	NC_000017.10:g.42430031C>T	ClinGen:CA8602270	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.1648G>A (p.Val550Ile)	2896	GRN	Uncertain significance	rs63750754	RCV000084495\|RCV001057131;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430032	42430032	17:g.42430032G>A	ClinGen:CA225370	CN517202 not provided;
NM_002087.4(GRN):c.1663C>T (p.Arg555Trp)	2896	GRN	Uncertain significance	rs768297331	RCV001324969;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430047	42430047	42430047	-
NM_002087.4(GRN):c.1669C>T (p.His557Tyr)	2896	GRN	Uncertain significance	rs1415695846	RCV000795069;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430053	42430053	17:g.42430053C>T	-
NM_002087.4(GRN):c.1674C>T (p.Cys558_Cys559=)	2896	GRN	Likely benign	-1	RCV003121202;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430058	42430058	NC_000017.10:g.42430058C>T	-
NM_002087.4(GRN):c.1686C>T (p.Gly562_Phe563=)	2896	GRN	Likely benign	-1	RCV002618038;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430070	42430070	NC_000017.10:g.42430070C>T	-
NM_002087.4(GRN):c.1690C>T (p.Arg564Cys)	2896	GRN	Uncertain significance	-1	RCV002644512;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430074	42430074	NC_000017.10:g.42430074C>T	-
NM_002087.4(GRN):c.1691G>A (p.Arg564His)	2896	GRN	Uncertain significance	-1	RCV001507391\|RCV002564193;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430075	42430075	42430075	-
NM_002087.4(GRN):c.1695C>T (p.Cys565=)	2896	GRN	Likely benign	rs63751248	RCV000084497\|RCV001431378;	N	MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430079	42430079	17:g.42430079C>T	ClinGen:CA225376	CN517202 not provided;
NM_002087.4(GRN):c.1696G>A (p.Ala566Thr)	2896	GRN	Uncertain significance	-1	RCV002625269\|RCV002625268;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430080	42430080	NC_000017.10:g.42430080G>A	-
NM_002087.4(GRN):c.1698A>C (p.Ala566_Ala567=)	2896	GRN	Likely benign	-1	RCV002721094;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430082	42430082	NC_000017.10:g.42430082A>C	-
NM_002087.4(GRN):c.1706G>A (p.Gly569Asp)	2896	GRN	Uncertain significance	-1	RCV002651248;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430090	42430090	NC_000017.10:g.42430090G>A	-
NM_002087.4(GRN):c.1712A>G (p.Lys571Arg)	2896	GRN	Uncertain significance	-1	RCV001986104;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430096	42430096	42430096	-
NM_002087.4(GRN):c.1719G>A (p.Leu573=)	2896	GRN	Likely benign	-1	RCV002138733;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430103	42430103	42430103	-
NM_002087.4(GRN):c.1720C>T (p.Arg574Cys)	2896	GRN	Uncertain significance	-1	RCV002908080\|RCV002908079;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430104	42430104	NC_000017.10:g.42430104C>T	-
NM_002087.4(GRN):c.1721G>A (p.Arg574His)	2896	GRN	Uncertain significance	rs756117423	RCV001307094\|RCV002411982;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262\|MeSH:D030342,MedGen:C0950123	17	42430105	42430105	42430105	-
NM_002087.4(GRN):c.1725_1726delinsAA (p.Glu576Lys)	2896	GRN	Uncertain significance	-1	RCV003082069;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430109	42430110	NC_000017.10:g.42430109_42430110delinsAA	-
NM_002087.4(GRN):c.1730C>T (p.Ala577Val)	2896	GRN	Uncertain significance	-1	RCV002614681;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430114	42430114	NC_000017.10:g.42430114C>T	-
NM_002087.4(GRN):c.1733C>T (p.Pro578Leu)	2896	GRN	Uncertain significance	-1	RCV003060185;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430117	42430117	NC_000017.10:g.42430117C>T	-
NM_002087.4(GRN):c.1734G>A (p.Pro578_Arg579=)	2896	GRN	Uncertain significance	-1	RCV002635616;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430118	42430118	NC_000017.10:g.42430118G>A	-
NM_002087.4(GRN):c.1735C>T (p.Arg579Cys)	2896	GRN	Uncertain significance	-1	RCV001938835;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430119	42430119	42430119	-
NM_002087.4(GRN):c.1736G>A (p.Arg579His)	2896	GRN	Uncertain significance	rs373138049	RCV000820629\|RCV002317530;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42430120	42430120	NC_000017.10:g.42430120G>A	-
NM_002087.4(GRN):c.1742A>T (p.Asp581Val)	2896	GRN	Conflicting interpretations of pathogenicity	rs768223928	RCV000518609\|RCV000983946\|RCV001404573\|RCV002314901;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	42430126	42430126	17:g.42430126A>T	ClinGen:CA8602290	CN169374 not specified;
NM_002087.4(GRN):c.1743C>T (p.Asp581=)	2896	GRN	Likely benign	-1	RCV001475974;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430127	42430127	42430127	-
NM_002087.4(GRN):c.1744G>A (p.Ala582Thr)	2896	GRN	Uncertain significance	-1	RCV002401461\|RCV003097203;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430128	42430128	42430128	-
NM_002087.4(GRN):c.1752G>A (p.Leu584_Arg585=)	2896	GRN	Likely benign	-1	RCV002842279;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430136	42430136	NC_000017.10:g.42430136G>A	-
NM_002087.4(GRN):c.1764C>T (p.Ala588_Leu589=)	2896	GRN	Likely benign	-1	RCV002766050;	N	MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430148	42430148	NC_000017.10:g.42430148C>T	-
NM_002087.4(GRN):c.1775T>C (p.Leu592Pro)	2896	GRN	Uncertain significance	-1	RCV003054477;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262	17	42430159	42430159	NC_000017.10:g.42430159T>C	-
NM_002087.4(GRN):c.*12G>T	2896	GRN	Uncertain significance	rs775440171	RCV001125059;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430178	42430178	17:g.42430178G>T	-
NM_002087.4(GRN):c.*30G>A	2896	GRN	Uncertain significance	rs374114836	RCV001125060;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430196	42430196	17:g.42430196G>A	-
NM_002087.4(GRN):c.*78C>T	2896	GRN	Benign	rs5848	RCV000022594\|RCV000353944\|RCV000650262\|RCV000791344\|RCV001636606;	N	\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|Human Phenotype Ont	17	42430244	42430244	17:g.42430244C>T	ClinGen:CA128609,OMIM:138945.0018	C3539123 614706 Ceroid lipofuscinosis, neuronal, 11;
NM_002087.4(GRN):c.*246A>G	2896	GRN	Uncertain significance	rs552375884	RCV001126033;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430412	42430412	17:g.42430412A>G	-
NM_002087.4(GRN):c.*273C>T	2896	GRN	Uncertain significance	rs971394484	RCV001126034;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42430439	42430439	17:g.42430439C>T	-
NM_002087.4(GRN):c.*280G>A	2896	GRN	Benign/Likely benign	rs116547342	RCV000263809\|RCV001548509;	N	MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282\|MedGen:CN517202	17	42430446	42430446	NC_000017.10:g.42430446G>A	ClinGen:CA10645815	C0338451 600274 Frontotemporal dementia;

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