CTSD (cathepsin D) - Rat Genome Database

Name: CTSD
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: CTSD (cathepsin D) Homo sapiens

Analyze

Symbol:

CTSD

Name:

cathepsin D

RGD ID:

1351014

HGNC Page

HGNC

Description:

Exhibits peptidase activity. Involved in several processes, including lipoprotein catabolic process; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; and regulation of establishment of protein localization. Localizes to endosome membrane; lysosomal membrane; and membrane raft. Implicated in Alzheimer's disease; breast cancer; and neuronal ceroid lipofuscinosis 10. Biomarker of Alzheimer's disease.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

cathepsin d (lysosomal aspartyl protease); ceroid-lipofuscinosis, neuronal 10; CLN10; CPSD; epididymis secretory sperm binding protein Li 130P; HEL-S-130P; lysosomal aspartyl peptidase; lysosomal aspartyl protease; MGC2311

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Ctsd (cathepsin D)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, Panther, Treefam
Rattus norvegicus (Norway rat):	Ctsd (cathepsin D)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, Panther
Chinchilla lanigera (long-tailed chinchilla):	Ctsd (cathepsin D)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CTSD (cathepsin D)	NCBI	Ortholog
Canis lupus familiaris (dog):	CTSD (cathepsin D)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ctsd (cathepsin D)	NCBI	Ortholog
Sus scrofa (pig):	CTSD (cathepsin D)	HGNC	Ensembl, Inparanoid, NCBI, OrthoDB
Chlorocebus sabaeus (African green monkey):	CTSD (cathepsin D)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ctsd (cathepsin D)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Ctsd (cathepsin D)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Mus musculus (house mouse):	Ctsd (cathepsin D)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Danio rerio (zebrafish):	ctsd (cathepsin D)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	PEP4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Drosophila melanogaster (fruit fly):	CG10104	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|PANTHER\|TreeFam)
Caenorhabditis elegans (roundworm):	asp-4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Caenorhabditis elegans (roundworm):	asp-3	Alliance	DIOPT (OMA\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Drosophila melanogaster (fruit fly):	cathD	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|Roundup\|TreeFam)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	11	1,752,755 - 1,764,573 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	11	1,752,752 - 1,764,573 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	11	1,752,755 - 1,763,927 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	11	1,773,982 - 1,785,222 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	1,730,561 - 1,741,798 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	11	1,730,560 - 1,741,798	NCBI
Celera	11	1,812,103 - 1,823,339 (-)	NCBI
Cytogenetic Map	11	p15.5	NCBI
HuRef	11	1,564,872 - 1,576,226 (-)	NCBI		HuRef
CHM1_1	11	1,772,933 - 1,784,154 (-)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Alzheimer's disease (IAGP,IEP)

amyotrophic lateral sclerosis type 1 (EXP)

atherosclerosis (ISO)

breast cancer (IMP)

COVID-19 (HEP)

epilepsy (IAGP)

hepatocellular carcinoma (EXP)

immunodeficiency 39 (IAGP)

kidney disease (EXP)

Neoplasm Invasiveness (EXP)

Neoplasm Metastasis (IEP)

neuronal ceroid lipofuscinosis (IAGP)

neuronal ceroid lipofuscinosis 10 (IAGP)

osteoarthritis (EXP)

Prostatic Neoplasms (EXP)

renal cell carcinoma (EXP)

rheumatoid arthritis (EXP)

visual epilepsy (IAGP)

Weight Gain (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-alpha-tocopherol (ISO)

(+)-pilocarpine (ISO)

(-)-epigallocatechin 3-gallate (EXP,ISO)

(R)-linalyl acetate (EXP)

(R)-lipoic acid (ISO)

(S)-amphetamine (ISO)

(S)-naringenin (EXP)

1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane (EXP)

1,2,4-trimethylbenzene (ISO)

1,2-dimethylhydrazine (ISO)

1,8-cineole (EXP)

17beta-estradiol (EXP)

17beta-hydroxy-17-methylestra-4,9,11-trien-3-one (EXP)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2-amino-2-deoxy-D-glucopyranose (EXP)

2-butoxyethanol (ISO)

2-deoxy-D-glucose (ISO)

2-nitrofluorene (ISO)

3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine (ISO)

3,3'-diindolylmethane (EXP)

3,4-methylenedioxymethamphetamine (EXP,ISO)

3-methylcholanthrene (EXP)

4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one (ISO)

4-nitroquinoline N-oxide (ISO)

4-nonylphenol (EXP)

4-terpineol (EXP)

4-tert-Octylphenol (EXP)

5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole (ISO)

6alpha-methylprednisolone (ISO)

7,12-dimethyltetraphene (ISO)

acrolein (EXP)

afimoxifene (EXP)

aflatoxin B1 (EXP,ISO)

aflatoxin B2 (EXP)

aldehydo-D-glucosamine (EXP)

all-trans-retinoic acid (EXP)

alliin (ISO)

aloxistatin (EXP)

alpha-naphthoflavone (EXP)

alpha-pinene (EXP)

alpha-terpineol (EXP)

amlodipine (ISO)

ammonium chloride (ISO)

amodiaquine (EXP)

anthocyanin (ISO)

aristolochic acid (ISO)

arsane (EXP)

arsenic atom (EXP)

arsenous acid (EXP)

Azaspiracid (EXP)

beauvericin (EXP)

benzamide (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

benzo[b]fluoranthene (ISO)

beta-D-glucosamine (EXP)

bisphenol A (EXP,ISO)

bortezomib (EXP)

brucine (EXP,ISO)

buspirone (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP,ISO)

caffeine (EXP)

carbon nanotube (ISO)

chloroquine (ISO)

choline (ISO)

cimetidine (ISO)

cis-caffeic acid (ISO)

cisplatin (EXP,ISO)

clofibrate (ISO)

cobalt dichloride (EXP,ISO)

cocaine (ISO)

copper atom (EXP)

copper(0) (EXP)

copper(II) chloride (ISO)

curcumin (EXP,ISO)

cyclophosphamide (ISO)

cyclosporin A (EXP)

cyproconazole (ISO)

cyprodinil (EXP)

cysteamine (ISO)

DDT (EXP)

dexamethasone (EXP,ISO)

dextran sulfate (ISO)

diarsenic trioxide (EXP)

diarylheptanoid (EXP)

dibutyl phthalate (ISO)

diethylstilbestrol (ISO)

disodium cromoglycate (ISO)

diuron (ISO)

dopamine (EXP)

dorsomorphin (EXP)

doxorubicin (EXP,ISO)

ellagic acid (ISO)

emodin (EXP)

enniatin (EXP)

epoxiconazole (ISO)

ethambutol (ISO)

fenamidone (ISO)

fenhexamid (EXP)

ferulic acid (ISO)

flavonoids (ISO)

fludioxonil (EXP)

flutamide (ISO)

folic acid (ISO)

fulvestrant (EXP)

fumonisin B1 (ISO)

gamma-terpinene (EXP)

genistein (EXP,ISO)

gentamycin (ISO)

geraniol (ISO)

glyphosate (EXP)

hydrogen peroxide (EXP)

Indeno[1,2,3-cd]pyrene (EXP)

indole-3-methanol (EXP)

indometacin (ISO)

isoprenaline (ISO)

kainic acid (ISO)

L-ascorbic acid (ISO)

L-methionine (ISO)

lead(0) (EXP)

lead(2+) (EXP)

leflunomide (ISO)

limonene (EXP)

linalool (EXP)

linalyl acetate (EXP)

lipoic acid (ISO)

lipopolysaccharide (ISO)

lithium atom (ISO)

lithium hydride (ISO)

lucanthone (EXP)

malathion (ISO)

manganese(II) chloride (ISO)

mangiferin (ISO)

Mecamylamine (ISO)

medroxyprogesterone acetate (EXP)

melatonin (EXP)

methamphetamine (ISO)

methapyrilene (ISO)

morin (ISO)

morusin (EXP)

N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine (ISO)

N-acetylsphingosine (ISO)

N-nitrosodimethylamine (ISO)

N-tosyl-L-phenylalanyl chloromethyl ketone (EXP)

NADP zwitterion (ISO)

NADP(+) (ISO)

naphthalenes (ISO)

naringin (ISO)

nefazodone (ISO)

Niclosamide (EXP)

nicorandil (ISO)

nitric oxide (ISO)

nitroglycerin (ISO)

Nonylphenol (EXP)

omeprazole (ISO)

ozone (EXP)

p-tert-Amylphenol (EXP)

paracetamol (ISO)

paraquat (ISO)

pepstatin A (EXP,ISO)

phenacetin (ISO)

phenobarbital (ISO)

phenylhydrazine (ISO)

phenylmercury acetate (EXP)

PhIP (EXP,ISO)

picene (EXP)

piperonyl butoxide (ISO)

pirimiphos-methyl (ISO)

pirinixic acid (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

pristane (ISO)

progesterone (EXP)

propiconazole (ISO)

quercetin (EXP)

resveratrol (EXP,ISO)

retinyl acetate (ISO)

rotenone (ISO)

S-allylcysteine (ISO)

sarin (EXP)

SB 431542 (EXP)

silicon dioxide (EXP,ISO)

sodium arsenate (ISO)

sodium arsenite (EXP)

sodium fluoride (ISO)

Soman (ISO)

stilben-4-ol (EXP)

stilbene-4,4'-diol (EXP)

tamibarotene (EXP)

tamoxifen (EXP)

tea tree oil (EXP)

tetrachloromethane (ISO)

titanium dioxide (EXP,ISO)

trans-caffeic acid (ISO)

trans-stilbene-4,4'-diol (EXP)

triclosan (EXP)

tunicamycin (EXP)

valdecoxib (ISO)

valproic acid (EXP)

vancomycin (ISO)

vinclozolin (ISO)

vitamin E (ISO)

vorinostat (EXP)

WIN 55212-2 (EXP)

Yessotoxin (EXP)

zearalenone (EXP)

zinc pyrithione (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

antigen processing and presentation of exogenous peptide antigen via MHC class II (TAS)

autophagosome assembly (ISO)

collagen catabolic process (TAS)

epithelial tube branching involved in lung morphogenesis (ISO)

lipoprotein catabolic process (IDA)

neutrophil degranulation (TAS)

positive regulation of apoptotic process (IDA)

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (IDA)

proteolysis (IDA,IEA,IMP)

regulation of establishment of protein localization (IDA)

response to nutrient levels (ISO)

Cellular Component

collagen-containing extracellular matrix (HDA)

endosome membrane (IDA)

extracellular exosome (HDA)

extracellular region (HDA,NAS,TAS)

extracellular space (HDA,IEA,ISS)

ficolin-1-rich granule lumen (TAS)

lysosomal lumen (TAS)

lysosomal membrane (IDA)

lysosome (IBA,IDA,IEA)

melanosome (IEA)

membrane raft (IDA)

specific granule lumen (TAS)

tertiary granule lumen (TAS)

Molecular Function

aspartic-type endopeptidase activity (IEA)

aspartic-type peptidase activity (ISS)

endopeptidase activity (ISO)

hydrolase activity (ISO)

peptidase activity (IDA,IMP)

peptide binding (ISO)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

ceramide signaling pathway (EXP)

chaperone mediated autophagy pathway (TAS)

tuberculosis pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormality of metabolism/homeostasis (IAGP)

Apnea (IAGP)

Ataxia (IAGP)

Autosomal recessive inheritance (IAGP)

Cerebellar atrophy (IAGP)

Cerebral atrophy (IAGP)

Congenital onset (IAGP)

Increased neuronal autofluorescent lipopigment (IAGP)

Intellectual disability, progressive (IAGP)

Intellectual disability, severe (IAGP)

Low-set ears (IAGP)

Mental deterioration (IAGP)

Microcephaly (IAGP)

Neuronal loss in central nervous system (IAGP)

Premature closure of fontanelles (IAGP)

Respiratory failure (IAGP)

Respiratory insufficiency (IAGP)

Retinal atrophy (IAGP)

Rigidity (IAGP)

Rod-cone dystrophy (IAGP)

Sensory axonal neuropathy (IAGP)

Sloping forehead (IAGP)

Spasticity (IAGP)

Status epilepticus (IAGP)

Visual loss (IAGP)

Wide nasal bridge (IAGP)

References

References - curated


1.	Ciechanover A and Kwon YT, Exp Mol Med. 2015 Mar 13;47:e147. doi: 10.1038/emm.2014.117.
2.	Gandour-Edwards R, etal., Head Neck 1999 Dec;21(8):718-22.
3.	Glondu M, etal., Oncogene 2002 Aug 1;21(33):5127-34.
4.	GOA_HUMAN data from the GO Consortium
5.	Jormsjo S, etal., Am J Pathol. 2002 Sep;161(3):939-45.
6.	Menzer G, etal., Am J Med Genet 2001 Mar 8;105(2):179-82.
7.	OMIM Disease Annotation Pipeline
8.	Pipeline to import KEGG annotations from KEGG into RGD
9.	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
10.	Qi L and Zhang XD, Acta Biochim Biophys Sin (Shanghai). 2014 Feb;46(2):83-91. doi: 10.1093/abbs/gmt133. Epub 2013 Dec 8.
11.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12.	RGD automated import pipeline for gene-chemical interactions
13.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14.	Straface E, etal., FEBS Lett 2005 May 23;579(13):2759-66. Epub 2005 Apr 19.
15.	Wohlgemuth SE, etal., Rejuvenation Res. 2007 Sep;10(3):281-92.
16.	Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.

Additional References at PubMed

PMID:938470	PMID:1522590	PMID:1692625	PMID:1734961	PMID:1837142	PMID:1883350	PMID:1939080	PMID:2013314	PMID:2069717	PMID:2180427	PMID:2350688	PMID:2736531
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PMID:10508159	PMID:10605825	PMID:10623764	PMID:10716266	PMID:10748089	PMID:10849758	PMID:10876156	PMID:10931940	PMID:10986284	PMID:11095076	PMID:11198280	PMID:11258665
PMID:11264868	PMID:11341921	PMID:11436125	PMID:11581410	PMID:11687971	PMID:11779865	PMID:11780226	PMID:11786931	PMID:11840502	PMID:11906282	PMID:12011767	PMID:12083803
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PMID:29467282	PMID:29501392	PMID:29507755	PMID:29509190	PMID:29961565	PMID:29993134	PMID:30037983	PMID:30051532	PMID:30227221	PMID:30278264	PMID:30397336	PMID:30442662
PMID:30575818	PMID:30644102	PMID:30771306	PMID:30945288	PMID:30948266	PMID:31099754	PMID:31180492	PMID:31184779	PMID:31300519	PMID:31340140	PMID:31536960	PMID:31862139
PMID:31910296	PMID:31936569	PMID:31960265	PMID:32140098	PMID:32176724	PMID:32253787	PMID:32578168	PMID:32814053	PMID:33144569

Genomics

Comparative Map Data

CTSD
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	11	1,752,755 - 1,764,573 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	11	1,752,752 - 1,764,573 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	11	1,752,755 - 1,763,927 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	11	1,773,982 - 1,785,222 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	1,730,561 - 1,741,798 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	11	1,730,560 - 1,741,798	NCBI
Celera	11	1,812,103 - 1,823,339 (-)	NCBI
Cytogenetic Map	11	p15.5	NCBI
HuRef	11	1,564,872 - 1,576,226 (-)	NCBI		HuRef
CHM1_1	11	1,772,933 - 1,784,154 (-)	NCBI		CHM1_1

Ctsd
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	141,929,647 - 141,941,564 (-)	NCBI	GRCm39		mm39
GRCm38	7	142,375,910 - 142,387,827 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	142,375,911 - 142,388,038 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	149,561,821 - 149,573,775 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	7	142,185,306 - 142,197,260 (-)	NCBI			mm8
Celera	7	142,131,673 - 142,143,627 (-)	NCBI		Celera
Cytogenetic Map	7	F5	NCBI

Ctsd
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Rnor_6.0	1	215,541,570 - 215,553,446 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	215,541,542 - 215,553,451 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	222,436,922 - 222,448,798 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	202,619,669 - 202,631,545 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	1	202,779,384 - 202,791,261 (-)	NCBI
Celera	1	195,146,345 - 195,158,236 (-)	NCBI		Celera
Cytogenetic Map	1	q41	NCBI

Ctsd
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955422	13,576,315 - 13,584,267 (-)	NCBI	ChiLan1.0	ChiLan1.0

CTSD
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	11	1,821,442 - 1,832,970 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
Mhudiblu_PPA_v0	11	1,789,326 - 1,800,524 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

CTSD
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	18	46,010,440 - 46,019,457 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	18	46,010,440 - 46,019,457 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Ctsd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936816	680,798 - 690,959 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CTSD
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	1,188,549 - 1,197,635 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	1,188,548 - 1,197,642 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

CTSD
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	1,570,163 - 1,581,857 (-)	NCBI
ChlSab1.1 Ensembl	1	1,570,069 - 1,581,833 (-)	Ensembl

Ctsd
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624767	14,661,058 - 14,671,116 (-)	NCBI

Position Markers

ECD00297

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,780,844 - 1,781,760	UniSTS	GRCh37
Build 36	11	1,737,420 - 1,738,336	RGD	NCBI36
Celera	11	1,818,961 - 1,819,877	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,571,848 - 1,572,764	UniSTS

ECD00346

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,776,977 - 1,777,889	UniSTS	GRCh37
Build 36	11	1,733,553 - 1,734,465	RGD	NCBI36
Celera	11	1,815,094 - 1,816,006	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,567,981 - 1,568,893	UniSTS

ECD00599

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,778,923 - 1,779,821	UniSTS	GRCh37
Build 36	11	1,735,499 - 1,736,397	RGD	NCBI36
Celera	11	1,817,040 - 1,817,938	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,569,927 - 1,570,825	UniSTS

ECD00904

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,781,829 - 1,782,714	UniSTS	GRCh37
Build 36	11	1,738,405 - 1,739,290	RGD	NCBI36
Celera	11	1,819,946 - 1,820,831	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,572,833 - 1,573,718	UniSTS

ECD00954

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,777,996 - 1,778,879	UniSTS	GRCh37
Build 36	11	1,734,572 - 1,735,455	RGD	NCBI36
Celera	11	1,816,113 - 1,816,996	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,569,000 - 1,569,883	UniSTS

ECD01139

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,774,253 - 1,775,129	UniSTS	GRCh37
Build 36	11	1,730,829 - 1,731,705	RGD	NCBI36
Celera	11	1,812,371 - 1,813,247	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,565,143 - 1,566,019	UniSTS

ECD01325

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,776,028 - 1,776,897	UniSTS	GRCh37
Build 36	11	1,732,604 - 1,733,473	RGD	NCBI36
Celera	11	1,814,145 - 1,815,014	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,567,032 - 1,567,901	UniSTS

ECD01352

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,779,905 - 1,780,773	UniSTS	GRCh37
Build 36	11	1,736,481 - 1,737,349	RGD	NCBI36
Celera	11	1,818,022 - 1,818,890	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,570,909 - 1,571,777	UniSTS

ECD06238

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,782,986 - 1,783,700	UniSTS	GRCh37
Build 36	11	1,739,562 - 1,740,276	RGD	NCBI36
Celera	11	1,821,103 - 1,821,817	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,573,990 - 1,574,704	UniSTS

ECD07271

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,783,755 - 1,784,441	UniSTS	GRCh37
Build 36	11	1,740,331 - 1,741,017	RGD	NCBI36
Celera	11	1,821,872 - 1,822,558	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,574,759 - 1,575,445	UniSTS

ECD07571

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,784,472 - 1,785,150	UniSTS	GRCh37
Build 36	11	1,741,048 - 1,741,726	RGD	NCBI36
Celera	11	1,822,589 - 1,823,267	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,575,476 - 1,576,154	UniSTS

ECD22944

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,785,364 - 1,785,567	UniSTS	GRCh37
Build 36	11	1,741,940 - 1,742,143	RGD	NCBI36
Celera	11	1,823,481 - 1,823,684	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,576,368 - 1,576,571	UniSTS

REN61163

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,786,977 - 1,787,215	UniSTS	GRCh37
Build 36	11	1,743,553 - 1,743,791	RGD	NCBI36
Celera	11	1,825,094 - 1,825,332	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,577,982 - 1,578,220	UniSTS

REN61164

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,786,770 - 1,787,001	UniSTS	GRCh37
Build 36	11	1,743,346 - 1,743,577	RGD	NCBI36
Celera	11	1,824,887 - 1,825,118	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,577,775 - 1,578,006	UniSTS

REN61165

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,786,563 - 1,786,793	UniSTS	GRCh37
Build 36	11	1,743,139 - 1,743,369	RGD	NCBI36
Celera	11	1,824,680 - 1,824,910	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,577,568 - 1,577,798	UniSTS

REN61166

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,785,566 - 1,785,793	UniSTS	GRCh37
Build 36	11	1,742,142 - 1,742,369	RGD	NCBI36
Celera	11	1,823,683 - 1,823,910	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,576,570 - 1,576,797	UniSTS

REN61167

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,785,364 - 1,785,588	UniSTS	GRCh37
Build 36	11	1,741,940 - 1,742,164	RGD	NCBI36
Celera	11	1,823,481 - 1,823,705	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,576,368 - 1,576,592	UniSTS

REN61168

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,784,417 - 1,784,651	UniSTS	GRCh37
Build 36	11	1,740,993 - 1,741,227	RGD	NCBI36
Celera	11	1,822,534 - 1,822,768	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,575,421 - 1,575,655	UniSTS

REN61169

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,784,181 - 1,784,441	UniSTS	GRCh37
Build 36	11	1,740,757 - 1,741,017	RGD	NCBI36
Celera	11	1,822,298 - 1,822,558	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,575,185 - 1,575,445	UniSTS

REN61170

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,783,954 - 1,784,194	UniSTS	GRCh37
Build 36	11	1,740,530 - 1,740,770	RGD	NCBI36
Celera	11	1,822,071 - 1,822,311	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,574,958 - 1,575,198	UniSTS

REN61171

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,783,715 - 1,783,974	UniSTS	GRCh37
Build 36	11	1,740,291 - 1,740,550	RGD	NCBI36
Celera	11	1,821,832 - 1,822,091	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,574,719 - 1,574,978	UniSTS

REN61172

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,783,482 - 1,783,734	UniSTS	GRCh37
Build 36	11	1,740,058 - 1,740,310	RGD	NCBI36
Celera	11	1,821,599 - 1,821,851	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,574,486 - 1,574,738	UniSTS

REN61173

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,783,269 - 1,783,503	UniSTS	GRCh37
Build 36	11	1,739,845 - 1,740,079	RGD	NCBI36
Celera	11	1,821,386 - 1,821,620	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,574,273 - 1,574,507	UniSTS

REN61174

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,783,051 - 1,783,277	UniSTS	GRCh37
Build 36	11	1,739,627 - 1,739,853	RGD	NCBI36
Celera	11	1,821,168 - 1,821,394	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,574,055 - 1,574,281	UniSTS

REN61175

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,782,758 - 1,783,005	UniSTS	GRCh37
Build 36	11	1,739,334 - 1,739,581	RGD	NCBI36
Celera	11	1,820,875 - 1,821,122	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,573,762 - 1,574,009	UniSTS

REN61176

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,782,539 - 1,782,777	UniSTS	GRCh37
Build 36	11	1,739,115 - 1,739,353	RGD	NCBI36
Celera	11	1,820,656 - 1,820,894	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,573,543 - 1,573,781	UniSTS

REN61177

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,782,330 - 1,782,562	UniSTS	GRCh37
Build 36	11	1,738,906 - 1,739,138	RGD	NCBI36
Celera	11	1,820,447 - 1,820,679	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,573,334 - 1,573,566	UniSTS

REN61178

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,782,119 - 1,782,343	UniSTS	GRCh37
Build 36	11	1,738,695 - 1,738,919	RGD	NCBI36
Celera	11	1,820,236 - 1,820,460	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,573,123 - 1,573,347	UniSTS

REN61179

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,781,729 - 1,781,974	UniSTS	GRCh37
Build 36	11	1,738,305 - 1,738,550	RGD	NCBI36
Celera	11	1,819,846 - 1,820,091	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,572,733 - 1,572,978	UniSTS

REN61180

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,781,522 - 1,781,749	UniSTS	GRCh37
Build 36	11	1,738,098 - 1,738,325	RGD	NCBI36
Celera	11	1,819,639 - 1,819,866	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,572,526 - 1,572,753	UniSTS

REN61181

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,781,156 - 1,781,422	UniSTS	GRCh37
Build 36	11	1,737,732 - 1,737,998	RGD	NCBI36
Celera	11	1,819,273 - 1,819,539	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,572,160 - 1,572,426	UniSTS

REN61182

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,780,952 - 1,781,178	UniSTS	GRCh37
Build 36	11	1,737,528 - 1,737,754	RGD	NCBI36
Celera	11	1,819,069 - 1,819,295	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,571,956 - 1,572,182	UniSTS

REN61183

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,780,737 - 1,780,968	UniSTS	GRCh37
Build 36	11	1,737,313 - 1,737,544	RGD	NCBI36
Celera	11	1,818,854 - 1,819,085	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,571,741 - 1,571,972	UniSTS

REN61184

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,780,438 - 1,780,670	UniSTS	GRCh37
Build 36	11	1,737,014 - 1,737,246	RGD	NCBI36
Celera	11	1,818,555 - 1,818,787	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,571,442 - 1,571,674	UniSTS

REN61185

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,780,040 - 1,780,269	UniSTS	GRCh37
Build 36	11	1,736,616 - 1,736,845	RGD	NCBI36
Celera	11	1,818,157 - 1,818,386	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,571,044 - 1,571,273	UniSTS

REN61186

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,779,795 - 1,780,020	UniSTS	GRCh37
Build 36	11	1,736,371 - 1,736,596	RGD	NCBI36
Celera	11	1,817,912 - 1,818,137	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,570,799 - 1,571,024	UniSTS

REN61187

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,779,559 - 1,779,819	UniSTS	GRCh37
Build 36	11	1,736,135 - 1,736,395	RGD	NCBI36
Celera	11	1,817,676 - 1,817,936	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,570,563 - 1,570,823	UniSTS

REN61188

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,779,242 - 1,779,467	UniSTS	GRCh37
Build 36	11	1,735,818 - 1,736,043	RGD	NCBI36
Celera	11	1,817,359 - 1,817,584	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,570,246 - 1,570,471	UniSTS

REN61189

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,779,021 - 1,779,263	UniSTS	GRCh37
Build 36	11	1,735,597 - 1,735,839	RGD	NCBI36
Celera	11	1,817,138 - 1,817,380	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,570,025 - 1,570,267	UniSTS

REN61190

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,778,814 - 1,779,039	UniSTS	GRCh37
Build 36	11	1,735,390 - 1,735,615	RGD	NCBI36
Celera	11	1,816,931 - 1,817,156	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,569,818 - 1,570,043	UniSTS

REN61191

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,778,565 - 1,778,820	UniSTS	GRCh37
Build 36	11	1,735,141 - 1,735,396	RGD	NCBI36
Celera	11	1,816,682 - 1,816,937	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,569,569 - 1,569,824	UniSTS

REN61192

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,778,348 - 1,778,580	UniSTS	GRCh37
Build 36	11	1,734,924 - 1,735,156	RGD	NCBI36
Celera	11	1,816,465 - 1,816,697	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,569,352 - 1,569,584	UniSTS

REN61193

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,777,994 - 1,778,246	UniSTS	GRCh37
Build 36	11	1,734,570 - 1,734,822	RGD	NCBI36
Celera	11	1,816,111 - 1,816,363	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,568,998 - 1,569,250	UniSTS

REN61194

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,777,681 - 1,777,918	UniSTS	GRCh37
Build 36	11	1,734,257 - 1,734,494	RGD	NCBI36
Celera	11	1,815,798 - 1,816,035	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,568,685 - 1,568,922	UniSTS

REN61195

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,777,324 - 1,777,573	UniSTS	GRCh37
Build 36	11	1,733,900 - 1,734,149	RGD	NCBI36
Celera	11	1,815,441 - 1,815,690	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,568,328 - 1,568,577	UniSTS

REN61196

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,776,873 - 1,777,117	UniSTS	GRCh37
Build 36	11	1,733,449 - 1,733,693	RGD	NCBI36
Celera	11	1,814,990 - 1,815,234	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,567,877 - 1,568,121	UniSTS

REN61197

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,776,650 - 1,776,889	UniSTS	GRCh37
Build 36	11	1,733,226 - 1,733,465	RGD	NCBI36
Celera	11	1,814,767 - 1,815,006	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,567,654 - 1,567,893	UniSTS

REN61198

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,776,414 - 1,776,668	UniSTS	GRCh37
Build 36	11	1,732,990 - 1,733,244	RGD	NCBI36
Celera	11	1,814,531 - 1,814,785	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,567,418 - 1,567,672	UniSTS

REN61199

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,776,209 - 1,776,437	UniSTS	GRCh37
Build 36	11	1,732,785 - 1,733,013	RGD	NCBI36
Celera	11	1,814,326 - 1,814,554	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,567,213 - 1,567,441	UniSTS

REN61200

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,775,993 - 1,776,219	UniSTS	GRCh37
Build 36	11	1,732,569 - 1,732,795	RGD	NCBI36
Celera	11	1,814,111 - 1,814,336	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,566,998 - 1,567,223	UniSTS

REN61203

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,775,300 - 1,775,524	UniSTS	GRCh37
Build 36	11	1,731,876 - 1,732,100	RGD	NCBI36
Celera	11	1,813,418 - 1,813,642	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,566,190 - 1,566,414	UniSTS

REN61204

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,774,921 - 1,775,154	UniSTS	GRCh37
Build 36	11	1,731,497 - 1,731,730	RGD	NCBI36
Celera	11	1,813,039 - 1,813,272	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,565,811 - 1,566,044	UniSTS

REN61205

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,774,684 - 1,774,931	UniSTS	GRCh37
Build 36	11	1,731,260 - 1,731,507	RGD	NCBI36
Celera	11	1,812,802 - 1,813,049	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,565,574 - 1,565,821	UniSTS

REN61206

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,774,411 - 1,774,654	UniSTS	GRCh37
Build 36	11	1,730,987 - 1,731,230	RGD	NCBI36
Celera	11	1,812,529 - 1,812,772	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,565,301 - 1,565,544	UniSTS

REN61207

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,774,178 - 1,774,420	UniSTS	GRCh37
Build 36	11	1,730,754 - 1,730,996	RGD	NCBI36
Celera	11	1,812,296 - 1,812,538	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,565,068 - 1,565,310	UniSTS

REN61208

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,773,966 - 1,774,200	UniSTS	GRCh37
Build 36	11	1,730,542 - 1,730,776	RGD	NCBI36
Celera	11	1,812,084 - 1,812,318	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,564,856 - 1,565,090	UniSTS

REN61209

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,773,717 - 1,773,987	UniSTS	GRCh37
Build 36	11	1,730,293 - 1,730,563	RGD	NCBI36
Celera	11	1,811,835 - 1,812,105	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,564,607 - 1,564,877	UniSTS

REN61210

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,773,501 - 1,773,738	UniSTS	GRCh37
Build 36	11	1,730,077 - 1,730,314	RGD	NCBI36
Celera	11	1,811,619 - 1,811,856	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,564,391 - 1,564,628	UniSTS

STS-M63138

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,773,647 - 1,773,802	UniSTS	GRCh37
Build 36	11	1,730,223 - 1,730,378	RGD	NCBI36
Celera	11	1,811,765 - 1,811,920	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,564,537 - 1,564,692	UniSTS
GeneMap99-GB4 RH Map	11	22.72	UniSTS
NCBI RH Map	11	10.0	UniSTS

CTSD

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,778,553 - 1,778,786	UniSTS	GRCh37
Build 36	11	1,735,129 - 1,735,362	RGD	NCBI36
Celera	11	1,816,670 - 1,816,903	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	1,569,557 - 1,569,790	UniSTS
GeneMap99-GB4 RH Map	11	22.82	UniSTS
NCBI RH Map	11	10.0	UniSTS

MARC_10183-10184:1004371792:5

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,780,217 - 1,780,828	UniSTS	GRCh37
Build 36	11	1,736,793 - 1,737,404	RGD	NCBI36
Celera	11	1,818,334 - 1,818,945	RGD
HuRef	11	1,571,221 - 1,571,832	UniSTS

stSG548467

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,778,839 - 1,780,581	UniSTS	GRCh37
Build 36	11	1,735,415 - 1,737,157	RGD	NCBI36
Celera	11	1,816,956 - 1,818,698	RGD
HuRef	11	1,569,843 - 1,571,585	UniSTS

stSG548468

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,780,754 - 1,782,094	UniSTS	GRCh37
Build 36	11	1,737,330 - 1,738,670	RGD	NCBI36
Celera	11	1,818,871 - 1,820,211	RGD
HuRef	11	1,571,758 - 1,573,098	UniSTS

stSG548469

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,782,075 - 1,783,642	UniSTS	GRCh37
Build 36	11	1,738,651 - 1,740,218	RGD	NCBI36
Celera	11	1,820,192 - 1,821,759	RGD
HuRef	11	1,573,079 - 1,574,646	UniSTS

stSG548470

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,783,621 - 1,783,800	UniSTS	GRCh37
Build 36	11	1,740,197 - 1,740,376	RGD	NCBI36
Celera	11	1,821,738 - 1,821,917	RGD
HuRef	11	1,574,625 - 1,574,804	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3119
Count of miRNA genes:	890
Interacting mature miRNAs:	1095
Transcripts:	ENST00000236671, ENST00000367196, ENST00000429746, ENST00000433655, ENST00000438213, ENST00000497544
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

683

285

461

288

178

426

175

Medium

2368

2298

1438

523

1422

392

4067

2122

3635

239

1349

1182

144

1107

2613

Low

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_008655	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001909	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC068580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH002629	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130178	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001574	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC016320	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM762986	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM976200	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT006910	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT020155	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471158	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EU794598	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178007	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178008	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L12980	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M11233	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S52557	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S74689	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X05344	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000236671 ⟹ ENSP00000236671

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,752,755 - 1,763,927 (-)	Ensembl

RefSeq Acc Id:

ENST00000367196 ⟹ ENSP00000356164

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,757,324 - 1,762,403 (-)	Ensembl

RefSeq Acc Id:

ENST00000429746 ⟹ ENSP00000402586

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,753,383 - 1,754,946 (-)	Ensembl

RefSeq Acc Id:

ENST00000433655 ⟹ ENSP00000404902

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,752,775 - 1,763,901 (-)	Ensembl

RefSeq Acc Id:

ENST00000438213 ⟹ ENSP00000415036

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,754,024 - 1,761,540 (-)	Ensembl

RefSeq Acc Id:

ENST00000497544

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,753,799 - 1,755,348 (-)	Ensembl

RefSeq Acc Id:

ENST00000636571 ⟹ ENSP00000490770

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,752,999 - 1,763,927 (-)	Ensembl

RefSeq Acc Id:

ENST00000636843 ⟹ ENSP00000490897

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,753,313 - 1,763,948 (-)	Ensembl

RefSeq Acc Id:

ENST00000637158

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,753,140 - 1,758,033 (-)	Ensembl

RefSeq Acc Id:

ENST00000637381 ⟹ ENSP00000490316

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,759,052 - 1,764,573 (-)	Ensembl

RefSeq Acc Id:

ENST00000637387 ⟹ ENSP00000490598

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,753,206 - 1,763,941 (-)	Ensembl

RefSeq Acc Id:

ENST00000637815 ⟹ ENSP00000490344

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,752,768 - 1,763,906 (-)	Ensembl

RefSeq Acc Id:

ENST00000637915 ⟹ ENSP00000490471

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,752,788 - 1,763,896 (-)	Ensembl

RefSeq Acc Id:

ENST00000637937

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,752,788 - 1,755,247 (-)	Ensembl

RefSeq Acc Id:

ENST00000677300

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,757,342 - 1,760,510 (-)	Ensembl

RefSeq Acc Id:

ENST00000678991 ⟹ ENSP00000503019

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	11	1,752,755 - 1,763,927 (-)	Ensembl

RefSeq Acc Id:

NM_001909 ⟹ NP_001900

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	1,752,755 - 1,763,927 (-)	NCBI
GRCh37	11	1,773,982 - 1,785,222 (-)	ENTREZGENE
Build 36	11	1,730,561 - 1,741,798 (-)	NCBI Archive
HuRef	11	1,564,872 - 1,576,226 (-)	ENTREZGENE
CHM1_1	11	1,772,933 - 1,784,154 (-)	NCBI

Sequence:

show sequence

GCGCACGCCGGCCGCGCCCACGTGACCGGTCCGGGTGCAAACACGCGGGTCAGCTGATCCGGCC
CAACTGCGGCGTCATCCCGGCTATAAGCGCACGGCCTCGGCGACCCTCTCCGACCCGGCCGCCG
CCGCCATGCAGCCCTCCAGCCTTCTGCCGCTCGCCCTCTGCCTGCTGGCTGCACCCGCCTCCGC
GCTCGTCAGGATCCCGCTGCACAAGTTCACGTCCATCCGCCGGACCATGTCGGAGGTTGGGGGC
TCTGTGGAGGACCTGATTGCCAAAGGCCCCGTCTCAAAGTACTCCCAGGCGGTGCCAGCCGTGA
CCGAGGGGCCCATTCCCGAGGTGCTCAAGAACTACATGGACGCCCAGTACTACGGGGAGATTGG
CATCGGGACGCCCCCCCAGTGCTTCACAGTCGTCTTCGACACGGGCTCCTCCAACCTGTGGGTC
CCCTCCATCCACTGCAAACTGCTGGACATCGCTTGCTGGATCCACCACAAGTACAACAGCGACA
AGTCCAGCACCTACGTGAAGAATGGTACCTCGTTTGACATCCACTATGGCTCGGGCAGCCTCTC
CGGGTACCTGAGCCAGGACACTGTGTCGGTGCCCTGCCAGTCAGCGTCGTCAGCCTCTGCCCTG
GGCGGTGTCAAAGTGGAGAGGCAGGTCTTTGGGGAGGCCACCAAGCAGCCAGGCATCACCTTCA
TCGCAGCCAAGTTCGATGGCATCCTGGGCATGGCCTACCCCCGCATCTCCGTCAACAACGTGCT
GCCCGTCTTCGACAACCTGATGCAGCAGAAGCTGGTGGACCAGAACATCTTCTCCTTCTACCTG
AGCAGGGACCCAGATGCGCAGCCTGGGGGTGAGCTGATGCTGGGTGGCACAGACTCCAAGTATT
ACAAGGGTTCTCTGTCCTACCTGAATGTCACCCGCAAGGCCTACTGGCAGGTCCACCTGGACCA
GGTGGAGGTGGCCAGCGGGCTGACCCTGTGCAAGGAGGGCTGTGAGGCCATTGTGGACACAGGC
ACTTCCCTCATGGTGGGCCCGGTGGATGAGGTGCGCGAGCTGCAGAAGGCCATCGGGGCCGTGC
CGCTGATTCAGGGCGAGTACATGATCCCCTGTGAGAAGGTGTCCACCCTGCCCGCGATCACACT
GAAGCTGGGAGGCAAAGGCTACAAGCTGTCCCCAGAGGACTACACGCTCAAGGTGTCGCAGGCC
GGGAAGACCCTCTGCCTGAGCGGCTTCATGGGCATGGACATCCCGCCACCCAGCGGGCCACTCT
GGATCCTGGGCGACGTCTTCATCGGCCGCTACTACACTGTGTTTGACCGTGACAACAACAGGGT
GGGCTTCGCCGAGGCTGCCCGCCTCTAGTTCCCAAGGCGTCCGCGCGCCAGCACAGAAACAGAG
GAGAGTCCCAGAGCAGGAGGCCCCTGGCCCAGCGGCCCCTCCCACACACACCCACACACTCGCC
CGCCCACTGTCCTGGGCGCCCTGGAAGCCGGCGGCCCAAGCCCGACTTGCTGTTTTGTTCTGTG
GTTTTCCCCTCCCTGGGTTCAGAAATGCTGCCTGCCTGTCTGTCTCTCCATCTGTTTGGTGGGG
GTAGAGCTGATCCAGAGCACAGATCTGTTTCGTGCATTGGAAGACCCCACCCAAGCTTGGCAGC
CGAGCTCGTGTATCCTGGGGCTCCCTTCATCTCCAGGGAGTCCCCTCCCCGGCCCTACCAGCGC
CCGCTGGGCTGAGCCCCTACCCCACACCAGGCCGTCCTCCCGGGCCCTCCCTTGGAAACCTGCC
CTGCCTGAGGGCCCCTCTGCCCAGCTTGGGCCCAGCTGGGCTCTGCCACCCTACCTGTTCAGTG
TCCCGGGCCCGTTGAGGATGAGGCCGCTAGAGGCCTGAGGATGAGCTGGAAGGAGTGAGAGGGG
ACAAAACCCACCTTGTTGGAGCCTGCAGGGTGGTGCTGGGACTGAGCCAGTCCCAGGGGCATGT
ATTGGCCTGGAGGTGGGGTTGGGATTGGGGGCTGGTGCCAGCCTTCCTCTGCAGCTGACCTCTG
TTGTCCTCCCCTTGGGCGGCTGAGAGCCCCAGCTGACATGGAAATACAGTTGTTGGCCTCCGGC
CTCCCCTCTGTAAAAAAAAAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001900	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA16314	(Get FASTA)	NCBI Sequence Viewer
	AAA51922	(Get FASTA)	NCBI Sequence Viewer
	AAB59529	(Get FASTA)	NCBI Sequence Viewer
	AAD13868	(Get FASTA)	NCBI Sequence Viewer
	AAD14156	(Get FASTA)	NCBI Sequence Viewer
	AAH16320	(Get FASTA)	NCBI Sequence Viewer
	AAP35556	(Get FASTA)	NCBI Sequence Viewer
	AAV38957	(Get FASTA)	NCBI Sequence Viewer
	ACJ13652	(Get FASTA)	NCBI Sequence Viewer
	ALQ33465	(Get FASTA)	NCBI Sequence Viewer
	ALQ33466	(Get FASTA)	NCBI Sequence Viewer
	CAA28955	(Get FASTA)	NCBI Sequence Viewer
	CAG33228	(Get FASTA)	NCBI Sequence Viewer
	EAX02461	(Get FASTA)	NCBI Sequence Viewer
	EAX02462	(Get FASTA)	NCBI Sequence Viewer
	EAX02463	(Get FASTA)	NCBI Sequence Viewer
	P07339	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_001900 ⟸ NM_001909
- Peptide Label:	preproprotein
- UniProtKB:	P07339 (UniProtKB/Swiss-Prot), V9HWI3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVPAVTE GPIPEVLKNYMDAQYYGEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKS STYVKNGTSFDIHYGSGSLSGYLSQDTVSVPCQSASSASALGGVKVERQVFGEATKQPGITFIA AKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQPGGELMLGGTDSKYYK GSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSLMVGPVDEVRELQKAIGAVPL IQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDIPPPSGPLWI LGDVFIGRYYTVFDRDNNRVGFAEAARL hide sequence

RefSeq Acc Id:

ENSP00000415036 ⟸ ENST00000438213

RefSeq Acc Id:

ENSP00000490770 ⟸ ENST00000636571

RefSeq Acc Id:

ENSP00000490897 ⟸ ENST00000636843

RefSeq Acc Id:

ENSP00000490316 ⟸ ENST00000637381

RefSeq Acc Id:

ENSP00000490598 ⟸ ENST00000637387

RefSeq Acc Id:

ENSP00000490471 ⟸ ENST00000637915

RefSeq Acc Id:

ENSP00000490344 ⟸ ENST00000637815

RefSeq Acc Id:

ENSP00000402586 ⟸ ENST00000429746

RefSeq Acc Id:

ENSP00000356164 ⟸ ENST00000367196

RefSeq Acc Id:

ENSP00000236671 ⟸ ENST00000236671

RefSeq Acc Id:

ENSP00000404902 ⟸ ENST00000433655

RefSeq Acc Id:

ENSP00000503019 ⟸ ENST00000678991

Protein Domains

Peptidase A1

Promoters

RGD ID:

6788658

Promoter ID:

HG_KWN:11928

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell

Transcripts:

OTTHUMT00000105335, OTTHUMT00000105336

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	1,733,556 - 1,734,056 (-)	MPROMDB

RGD ID:

6788659

Promoter ID:

HG_KWN:11931

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

OTTHUMT00000105337

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	1,739,651 - 1,740,151 (-)	MPROMDB

RGD ID:

6788657

Promoter ID:

HG_KWN:11932

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour, HeLa_S3, K562

Transcripts:

OTTHUMT00000105334

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	1,740,371 - 1,740,871 (-)	MPROMDB

RGD ID:

6788421

Promoter ID:

HG_KWN:11933

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000407742, NM_053005, OTTHUMT00000104272, OTTHUMT00000105340, UC001LTQ.1, UC009YDA.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	1,741,644 - 1,742,144 (-)	MPROMDB

RGD ID:

7219283

Promoter ID:

EPDNEW_H15387

Type:

initiation region

Name:

CTSD_2

Description:

cathepsin D

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H15389

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	1,753,584 - 1,753,644	EPDNEW

RGD ID:

7219289

Promoter ID:

EPDNEW_H15389

Type:

initiation region

Name:

CTSD_1

Description:

cathepsin D

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H15387

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	1,763,927 - 1,763,987	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001909.5(CTSD):c.306C>T (p.Asn102=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000549337]	Chr11:1759562 [GRCh38] Chr11:1780792 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.353-8C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000527734]	Chr11:1759095 [GRCh38] Chr11:1780325 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.131A>T (p.Glu44Val)	single nucleotide variant	not provided [RCV000520113]	Chr11:1761406 [GRCh38] Chr11:1782636 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.685T>A (p.Phe229Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000019134]	Chr11:1757343 [GRCh38] Chr11:1778573 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000019135]	Chr11:1753593 [GRCh38] Chr11:1774823 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.764dup (p.Tyr255Ter)	duplication	Neuronal ceroid lipofuscinosis 10 [RCV000019136]	Chr11:1754968..1754969 [GRCh38] Chr11:1776198..1776199 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.4:c.486-12G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000087099]	Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.924G>A (p.Val308=)	single nucleotide variant	not provided [RCV000521730]	Chr11:1754042 [GRCh38] Chr11:1775272 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.199A>C (p.Ile67Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000543988]	Chr11:1761338 [GRCh38] Chr11:1782568 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000548431]	Chr11:1757462 [GRCh38] Chr11:1778692 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.135C>G (p.Asp45Glu)	single nucleotide variant	not provided [RCV000521394]	Chr11:1761402 [GRCh38] Chr11:1782632 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000087098]\|Neuronal ceroid lipofuscinosis [RCV000804177]	Chr11:1758970 [GRCh38] Chr11:1780200 [GRCh37] Chr11:11p15.5	pathogenic\|uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	copy number gain	See cases [RCV000050947]	Chr11:196966..3377077 [GRCh38] Chr11:196966..3398307 [GRCh37] Chr11:186966..3354883 [NCBI36] Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	copy number gain	See cases [RCV000050927]	Chr11:196966..4435344 [GRCh38] Chr11:196966..4456574 [GRCh37] Chr11:186966..4413150 [NCBI36] Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	copy number loss	See cases [RCV000052645]	Chr11:758848..1998025 [GRCh38] Chr11:758848..2019255 [GRCh37] Chr11:748848..1975831 [NCBI36] Chr11:11p15.5	pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	copy number gain	See cases [RCV000053614]	Chr11:218365..3377077 [GRCh38] Chr11:218365..3398307 [GRCh37] Chr11:208365..3354883 [NCBI36] Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3	copy number gain	See cases [RCV000053613]	Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13	pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]\|See cases [RCV000053592]	Chr11:196966..3624139 [GRCh38] Chr11:196966..3645369 [GRCh37] Chr11:186966..3601945 [NCBI36] Chr11:11p15.5-15.4	pathogenic
NM_001909.5(CTSD):c.358C>T (p.His120Tyr)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001231083]	Chr11:1759082 [GRCh38] Chr11:1780312 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1072-7G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000614328]\|Neuronal ceroid lipofuscinosis [RCV001083725]\|not provided [RCV000675950]\|not specified [RCV000116850]	Chr11:1753677 [GRCh38] Chr11:1774907 [GRCh37] Chr11:11p15.5	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.1137C>T (p.Ser379=)	single nucleotide variant	not specified [RCV000116851]	Chr11:1753605 [GRCh38] Chr11:1774835 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.1215C>A (p.Gly405=)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000625067]\|Neuronal ceroid lipofuscinosis [RCV000229710]\|Seizures [RCV000715784]\|not provided [RCV000675948]\|not specified [RCV000116852]	Chr11:1753527 [GRCh38] Chr11:1774757 [GRCh37] Chr11:11p15.5	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.173C>T (p.Ala58Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000625347]\|Seizures [RCV000715749]\|not provided [RCV000675959]\|not specified [RCV000116853]	Chr11:1761364 [GRCh38] Chr11:1782594 [GRCh37] Chr11:11p15.5	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001909.5(CTSD):c.189C>T (p.Thr63=)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000625346]\|Neuronal ceroid lipofuscinosis [RCV001084022]\|Seizures [RCV000716525]\|not provided [RCV000472044]\|not specified [RCV000116854]	Chr11:1761348 [GRCh38] Chr11:1782578 [GRCh37] Chr11:11p15.5	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001909.5(CTSD):c.231C>T (p.Ala77=)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000625345]\|Seizures [RCV000715763]\|not provided [RCV000675958]\|not specified [RCV000116855]	Chr11:1759637 [GRCh38] Chr11:1780867 [GRCh37] Chr11:11p15.5	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001909.5(CTSD):c.465T>C (p.Thr155=)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000625344]\|Seizures [RCV000715173]\|not provided [RCV000675955]\|not specified [RCV000116856]	Chr11:1758975 [GRCh38] Chr11:1780205 [GRCh37] Chr11:11p15.5	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000625068]\|Neuronal ceroid lipofuscinosis [RCV001079523]\|Seizures [RCV000716794]\|not provided [RCV000431476]\|not specified [RCV000116857]	Chr11:1754122 [GRCh38] Chr11:1775352 [GRCh37] Chr11:11p15.5	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001909.5(CTSD):c.828-19A>C	single nucleotide variant	not provided [RCV000675952]\|not specified [RCV000124621]	Chr11:1754157 [GRCh38] Chr11:1775387 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.846G>A (p.Gly282=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000525344]\|Seizures [RCV000715172]\|not specified [RCV000179834]	Chr11:1754120 [GRCh38] Chr11:1775350 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.912G>A (p.Pro304=)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000262670]\|Neuronal ceroid lipofuscinosis [RCV001082524]\|Seizures [RCV000716321]\|not provided [RCV000724427]\|not specified [RCV000186625]	Chr11:1754054 [GRCh38] Chr11:1775284 [GRCh37] Chr11:11p15.5	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.951C>T (p.Ala317=)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000268185]\|Neuronal ceroid lipofuscinosis [RCV000473433]\|Seizures [RCV000717418]\|not specified [RCV000124625]	Chr11:1754015 [GRCh38] Chr11:1775245 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.1071+7G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001103554]\|Neuronal ceroid lipofuscinosis [RCV000475449]\|not specified [RCV000124626]	Chr11:1753796 [GRCh38] Chr11:1775026 [GRCh37] Chr11:11p15.5	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.1071+12A>G	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001103553]\|not specified [RCV000124627]	Chr11:1753791 [GRCh38] Chr11:1775021 [GRCh37] Chr11:11p15.5	benign\|uncertain significance
NM_001909.5(CTSD):c.1077G>A (p.Ser359=)	single nucleotide variant	not provided [RCV000675949]\|not specified [RCV000124629]	Chr11:1753665 [GRCh38] Chr11:1774895 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.1122C>T (p.Asp374=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632755]\|not specified [RCV000124630]	Chr11:1753620 [GRCh38] Chr11:1774850 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.*19G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000313453]\|not specified [RCV000124631]	Chr11:1753484 [GRCh38] Chr11:1774714 [GRCh37] Chr11:11p15.5	benign\|uncertain significance
NM_001909.5(CTSD):c.153C>T (p.Pro51=)	single nucleotide variant	Seizures [RCV000720711]\|not provided [RCV000867087]\|not specified [RCV000124632]	Chr11:1761384 [GRCh38] Chr11:1782614 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.228C>T (p.Asp76=)	single nucleotide variant	not specified [RCV000124635]	Chr11:1761309 [GRCh38] Chr11:1782539 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.228+18G>T	single nucleotide variant	not specified [RCV000124636]	Chr11:1761291 [GRCh38] Chr11:1782521 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.240C>T (p.Tyr80=)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001108794]\|Neuronal ceroid lipofuscinosis [RCV000463645]\|Seizures [RCV000720464]\|not specified [RCV000124638]	Chr11:1759628 [GRCh38] Chr11:1780858 [GRCh37] Chr11:11p15.5	benign\|likely benign\|uncertain significance
NM_001909.5(CTSD):c.261G>A (p.Thr87=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000865704]\|not specified [RCV000124639]	Chr11:1759607 [GRCh38] Chr11:1780837 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.270G>A (p.Gln90=)	single nucleotide variant	not specified [RCV000124640]	Chr11:1759598 [GRCh38] Chr11:1780828 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.294G>A (p.Thr98=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000706456]\|not specified [RCV000124641]	Chr11:1759574 [GRCh38] Chr11:1780804 [GRCh37] Chr11:11p15.5	benign\|uncertain significance
NM_001909.5(CTSD):c.353-17C>T	single nucleotide variant	not provided [RCV000675957]\|not specified [RCV000124642]	Chr11:1759104 [GRCh38] Chr11:1780334 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.353-12C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000602896]\|not provided [RCV000675956]\|not specified [RCV000124643]	Chr11:1759099 [GRCh38] Chr11:1780329 [GRCh37] Chr11:11p15.5	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.353-11G>A	single nucleotide variant	not specified [RCV000124644]	Chr11:1759098 [GRCh38] Chr11:1780328 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.432G>A (p.Ser144=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632715]\|not specified [RCV000124645]	Chr11:1759008 [GRCh38] Chr11:1780238 [GRCh37] Chr11:11p15.5	benign\|uncertain significance
NM_001909.5(CTSD):c.471+15G>C	single nucleotide variant	not specified [RCV000124647]	Chr11:1758954 [GRCh38] Chr11:1780184 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.-24C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000264846]\|not specified [RCV000124648]	Chr11:1763883 [GRCh38] Chr11:1785113 [GRCh37] Chr11:11p15.5	benign\|uncertain significance
NM_001909.5(CTSD):c.639C>G (p.Pro213=)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000625343]\|Neuronal ceroid lipofuscinosis [RCV001084602]\|not provided [RCV000675953]\|not specified [RCV000124649]	Chr11:1757389 [GRCh38] Chr11:1778619 [GRCh37] Chr11:11p15.5	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.704+6C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001245840]\|not specified [RCV000124650]	Chr11:1757318 [GRCh38] Chr11:1778548 [GRCh37] Chr11:11p15.5	benign\|uncertain significance
NM_001909.5(CTSD):c.827+13T>C	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000625069]\|not specified [RCV000124651]	Chr11:1754893 [GRCh38] Chr11:1776123 [GRCh37] Chr11:11p15.5	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	copy number gain	See cases [RCV000133997]	Chr11:446754..18904742 [GRCh38] Chr11:446754..18926289 [GRCh37] Chr11:436754..18882865 [NCBI36] Chr11:11p15.5-15.1	pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	copy number gain	See cases [RCV000136847]	Chr11:1537379..3360769 [GRCh38] Chr11:1558609..3381999 [GRCh37] Chr11:1515185..3338575 [NCBI36] Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	copy number gain	See cases [RCV000139987]	Chr11:61793..10727969 [GRCh38] Chr11:61793..10749516 [GRCh37] Chr11:51793..10706092 [NCBI36] Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	copy number loss	See cases [RCV000142464]	Chr11:1132899..3213923 [GRCh38] Chr11:1126807..3235153 [GRCh37] Chr11:1116807..3191729 [NCBI36] Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	copy number gain	See cases [RCV000142890]	Chr11:196855..5321874 [GRCh38] Chr11:196855..5343104 [GRCh37] Chr11:186855..5299680 [NCBI36] Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	copy number gain	See cases [RCV000142923]	Chr11:196855..2116185 [GRCh38] Chr11:196855..2137415 [GRCh37] Chr11:186855..2093991 [NCBI36] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.75G>A (p.Pro25=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001078653]\|not provided [RCV000187304]	Chr11:1761462 [GRCh38] Chr11:1782692 [GRCh37] Chr11:11p15.5	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.1155_1169dup (p.Ile390_Gly391insMetGlyAspValPhe)	duplication	Exaggerated startle response [RCV000162114]	Chr11:1753572..1753573 [GRCh38] Chr11:1774802..1774803 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_001909.5(CTSD):c.267C>G (p.Pro89=)	single nucleotide variant	not provided [RCV000724386]\|not specified [RCV000177142]	Chr11:1759601 [GRCh38] Chr11:1780831 [GRCh37] Chr11:11p15.5	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000395099]\|Neuronal ceroid lipofuscinosis [RCV000808865]\|not provided [RCV000726035]	Chr11:1753580 [GRCh38] Chr11:1774810 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.446G>T (p.Gly149Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000190882]	Chr11:1758994 [GRCh38] Chr11:1780224 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.1196G>A (p.Arg399His)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000190883]	Chr11:1753546 [GRCh38] Chr11:1774776 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.828-14_828-13del	deletion	not specified [RCV000187287]	Chr11:1754151..1754152 [GRCh38] Chr11:1775381..1775382 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.497C>T (p.Ala166Val)	single nucleotide variant	not specified [RCV000187294]	Chr11:1757531 [GRCh38] Chr11:1778761 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.982C>G (p.Pro328Ala)	single nucleotide variant	not provided [RCV000187298]	Chr11:1753892 [GRCh38] Chr11:1775122 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001108709]\|Neuronal ceroid lipofuscinosis [RCV000810246]	Chr11:1753623 [GRCh38] Chr11:1774853 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1211T>G (p.Val404Gly)	single nucleotide variant	not provided [RCV000187303]	Chr11:1753531 [GRCh38] Chr11:1774761 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala)	single nucleotide variant	not provided [RCV000187307]	Chr11:1759606 [GRCh38] Chr11:1780836 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_001909.5(CTSD):c.376G>A (p.Asp126Asn)	single nucleotide variant	not provided [RCV000187308]	Chr11:1759064 [GRCh38] Chr11:1780294 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.443C>T (p.Ser148Phe)	single nucleotide variant	not provided [RCV000187309]	Chr11:1758997 [GRCh38] Chr11:1780227 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000687303]\|Seizures [RCV000718706]\|not provided [RCV000187311]	Chr11:1763808 [GRCh38] Chr11:1785038 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.4(CTSD):c.502G>A (p.Ala168Thr)	single nucleotide variant	not specified [RCV000187312]	Chr11:1757526 [GRCh38] Chr11:1778756 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.561C>T (p.Gly187=)	single nucleotide variant	not provided [RCV000187313]	Chr11:1757467 [GRCh38] Chr11:1778697 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu)	single nucleotide variant	not provided [RCV000187319]	Chr11:1753846 [GRCh38] Chr11:1775076 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001207662]\|not provided [RCV000187320]	Chr11:1759569 [GRCh38] Chr11:1780799 [GRCh37] Chr11:11p15.5	pathogenic\|likely pathogenic\|uncertain significance
NM_001909.5(CTSD):c.957G>A (p.Pro319=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000554524]\|not specified [RCV000187288]	Chr11:1754009 [GRCh38] Chr11:1775239 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.*11G>A	single nucleotide variant	not specified [RCV000187289]	Chr11:1753492 [GRCh38] Chr11:1774722 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.69-17C>T	single nucleotide variant	not specified [RCV000187290]	Chr11:1761485 [GRCh38] Chr11:1782715 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.154G>A (p.Val52Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001108795]\|Neuronal ceroid lipofuscinosis [RCV000862792]\|Seizures [RCV000716724]\|not specified [RCV000187291]	Chr11:1761383 [GRCh38] Chr11:1782613 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.216G>A (p.Lys72=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000457610]\|not specified [RCV000187292]	Chr11:1761321 [GRCh38] Chr11:1782551 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001103645]\|Neuronal ceroid lipofuscinosis [RCV000796035]\|not specified [RCV000187293]	Chr11:1763846 [GRCh38] Chr11:1785076 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.630C>T (p.Asn210=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632738]\|not specified [RCV000187295]	Chr11:1757398 [GRCh38] Chr11:1778628 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.877A>C (p.Ile293Leu)	single nucleotide variant	not provided [RCV000187296]	Chr11:1754089 [GRCh38] Chr11:1775319 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001105477]\|Neuronal ceroid lipofuscinosis [RCV000705805]\|not provided [RCV000187297]	Chr11:1754038 [GRCh38] Chr11:1775268 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val)	single nucleotide variant	not provided [RCV000187300]	Chr11:1753592 [GRCh38] Chr11:1774822 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.4(CTSD):c.1175G>A (p.Arg392His)	single nucleotide variant	not specified [RCV000187301]	Chr11:1753567 [GRCh38] Chr11:1774797 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632742]\|not provided [RCV000187302]	Chr11:1753540 [GRCh38] Chr11:1774770 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001085708]\|Seizures [RCV000718768]\|not provided [RCV000710114]	Chr11:1761437 [GRCh38] Chr11:1782667 [GRCh37] Chr11:11p15.5	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg)	single nucleotide variant	not provided [RCV000187306]	Chr11:1759627 [GRCh38] Chr11:1780857 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000763725]\|Neuronal ceroid lipofuscinosis [RCV000231366]\|not provided [RCV000727458]	Chr11:1763852 [GRCh38] Chr11:1785082 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000541141]\|not provided [RCV000187314]	Chr11:1754982 [GRCh38] Chr11:1776212 [GRCh37] Chr11:11p15.5	likely pathogenic\|uncertain significance
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001041227]\|not provided [RCV000187315]	Chr11:1754975 [GRCh38] Chr11:1776205 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000817194]\|not provided [RCV000187316]	Chr11:1754937 [GRCh38] Chr11:1776167 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.926G>A (p.Arg309His)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000864860]\|Seizures [RCV000717406]\|not specified [RCV000187317]	Chr11:1754040 [GRCh38] Chr11:1775270 [GRCh37] Chr11:11p15.5	benign\|likely benign\|uncertain significance
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001044040]\|not provided [RCV000187318]	Chr11:1754010 [GRCh38] Chr11:1775240 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	copy number gain	See cases [RCV000446036]	Chr11:193187..5291338 [GRCh37] Chr11:11p15.5-15.4	pathogenic
Single allele	complex	Ductal breast carcinoma [RCV000207104]	Chr11:870446..1857751 [GRCh37] Chr11:11p15.5	uncertain significance
chr11:1092954..1857751 complex variant	complex	Ductal breast carcinoma [RCV000207239]	Chr11:1092954..1857751 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.241G>T (p.Gly81Trp)	single nucleotide variant	not provided [RCV000224560]	Chr11:1759627 [GRCh38] Chr11:1780857 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.352+10G>C	single nucleotide variant	not provided [RCV000232571]\|not specified [RCV000615880]	Chr11:1759506 [GRCh38] Chr11:1780736 [GRCh37] Chr11:11p15.5	likely benign
GRCh37/hg19 11p15.5(chr11:1774508-1785629)x3	copy number gain	See cases [RCV000239868]	Chr11:1774508..1785629 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000308097]\|Neuronal ceroid lipofuscinosis [RCV001084655]\|not provided [RCV000725129]\|not specified [RCV000371431]	Chr11:1753865 [GRCh38] Chr11:1775095 [GRCh37] Chr11:11p15.5	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.828-17G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000625342]\|not provided [RCV000675951]\|not specified [RCV000253879]	Chr11:1754155 [GRCh38] Chr11:1775385 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.89C>T (p.Thr30Met)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001060632]\|not provided [RCV000522018]	Chr11:1761448 [GRCh38] Chr11:1782678 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*117C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000281653]	Chr11:1753386 [GRCh38] Chr11:1774616 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*694G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000368359]	Chr11:1752809 [GRCh38] Chr11:1774039 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*358C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000323052]	Chr11:1753145 [GRCh38] Chr11:1774375 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.-37G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000303572]\|not specified [RCV000443172]	Chr11:1763896 [GRCh38] Chr11:1785126 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.90G>A (p.Thr30=)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000304091]\|Neuronal ceroid lipofuscinosis [RCV000632764]\|Seizures [RCV000718181]\|not specified [RCV000443329]	Chr11:1761447 [GRCh38] Chr11:1782677 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.*654C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000271530]	Chr11:1752849 [GRCh38] Chr11:1774079 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*403C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000289130]	Chr11:1753100 [GRCh38] Chr11:1774330 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*597A>C	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000328943]	Chr11:1752906 [GRCh38] Chr11:1774136 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.111G>C (p.Ser37=)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000404301]	Chr11:1761426 [GRCh38] Chr11:1782656 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*67A>G	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000334480]	Chr11:1753436 [GRCh38] Chr11:1774666 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.*140G>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000408142]	Chr11:1753363 [GRCh38] Chr11:1774593 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.660G>C (p.Gln220His)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000280332]	Chr11:1757368 [GRCh38] Chr11:1778598 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.-53C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000263495]	Chr11:1763912 [GRCh38] Chr11:1785142 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.*342C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000282795]	Chr11:1753161 [GRCh38] Chr11:1774391 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000320938]	Chr11:1754020 [GRCh38] Chr11:1775250 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000366378]\|Neuronal ceroid lipofuscinosis [RCV000693378]	Chr11:1753658 [GRCh38] Chr11:1774888 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*736C>G	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000330067]	Chr11:1752767 [GRCh38] Chr11:1773997 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.972+10G>A	single nucleotide variant	not provided [RCV000725998]\|not specified [RCV000389907]	Chr11:1753984 [GRCh38] Chr11:1775214 [GRCh37] Chr11:11p15.5	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.1116C>T (p.Gly372=)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000309391]\|Neuronal ceroid lipofuscinosis [RCV000560295]\|not specified [RCV000426380]	Chr11:1753626 [GRCh38] Chr11:1774856 [GRCh37] Chr11:11p15.5	benign\|likely benign\|uncertain significance
NM_001909.5(CTSD):c.-12_-10GCC[5] (p.Met1_Gln2insAla)	microsatellite	not provided [RCV000398094]	Chr11:1763859..1763860 [GRCh38] Chr11:1785089..1785090 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.346G>A (p.Ala116Thr)	single nucleotide variant	not provided [RCV000326932]	Chr11:1759522 [GRCh38] Chr11:1780752 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.-3G>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000361174]	Chr11:1763862 [GRCh38] Chr11:1785092 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*300G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000340202]	Chr11:1753203 [GRCh38] Chr11:1774433 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.411G>A (p.Ser137=)	single nucleotide variant	not provided [RCV000595979]	Chr11:1759029 [GRCh38] Chr11:1780259 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*356C>G	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000379954]	Chr11:1753147 [GRCh38] Chr11:1774377 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*574C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000380993]	Chr11:1752929 [GRCh38] Chr11:1774159 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.4(CTSD):c.-132_-131insCCCGC	microsatellite	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000316369]	Chr11:1763990..1763991 [GRCh38] Chr11:1785220..1785221 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*58C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000406144]	Chr11:1753445 [GRCh38] Chr11:1774675 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000698402]\|not provided [RCV000597487]	Chr11:1753583 [GRCh38] Chr11:1774813 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.659A>C (p.Gln220Pro)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000351658]	Chr11:1757369 [GRCh38] Chr11:1778599 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.-47A>G	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000355994]	Chr11:1763906 [GRCh38] Chr11:1785136 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.940G>A (p.Ala314Thr)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000378283]	Chr11:1754026 [GRCh38] Chr11:1775256 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.973-8C>A	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000360520]	Chr11:1753909 [GRCh38] Chr11:1775139 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.63C>T (p.Leu21=)	single nucleotide variant	not provided [RCV000596155]	Chr11:1763797 [GRCh38] Chr11:1785027 [GRCh37] Chr11:11p15.5	conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.704+7G>A	single nucleotide variant	not provided [RCV000591071]	Chr11:1757317 [GRCh38] Chr11:1778547 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000537256]	Chr11:1759597 [GRCh38] Chr11:1780827 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1185T>G (p.Thr395=)	single nucleotide variant	not provided [RCV000733905]	Chr11:1753557 [GRCh38] Chr11:1774787 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1010C>T (p.Ala337Val)	single nucleotide variant	not specified [RCV000412883]	Chr11:1753864 [GRCh38] Chr11:1775094 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.770G>C (p.Gly257Ala)	single nucleotide variant	not specified [RCV000413884]	Chr11:1754963 [GRCh38] Chr11:1776193 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3	copy number gain	See cases [RCV000449417]	Chr11:230615..6644927 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NM_001909.5(CTSD):c.552G>A (p.Lys184=)	single nucleotide variant	not specified [RCV000427553]	Chr11:1757476 [GRCh38] Chr11:1778706 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.69-16G>A	single nucleotide variant	not specified [RCV000434347]	Chr11:1761484 [GRCh38] Chr11:1782714 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.828-5C>T	single nucleotide variant	Seizures [RCV000720784]\|not specified [RCV000441533]	Chr11:1754143 [GRCh38] Chr11:1775373 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.*15G>A	single nucleotide variant	not specified [RCV000445115]	Chr11:1753488 [GRCh38] Chr11:1774718 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.472-15T>C	single nucleotide variant	not specified [RCV000445230]	Chr11:1757571 [GRCh38] Chr11:1778801 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.705-4C>T	single nucleotide variant	not specified [RCV000418016]	Chr11:1755032 [GRCh38] Chr11:1776262 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.*17G>A	single nucleotide variant	not specified [RCV000420930]	Chr11:1753486 [GRCh38] Chr11:1774716 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.827+9T>A	single nucleotide variant	not specified [RCV000438246]	Chr11:1754897 [GRCh38] Chr11:1776127 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.-32C>T	single nucleotide variant	not specified [RCV000424377]	Chr11:1763891 [GRCh38] Chr11:1785121 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.68+10C>G	single nucleotide variant	not specified [RCV000421192]	Chr11:1763782 [GRCh38] Chr11:1785012 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.69-17C>A	single nucleotide variant	not specified [RCV000431899]	Chr11:1761485 [GRCh38] Chr11:1782715 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.621C>A (p.Ser207=)	single nucleotide variant	not specified [RCV000435141]	Chr11:1757407 [GRCh38] Chr11:1778637 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1071+9G>A	single nucleotide variant	not specified [RCV000421297]	Chr11:1753794 [GRCh38] Chr11:1775024 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.-40C>T	single nucleotide variant	not specified [RCV000442438]	Chr11:1763899 [GRCh38] Chr11:1785129 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.393C>T (p.Tyr131=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000538080]\|not specified [RCV000425322]	Chr11:1759047 [GRCh38] Chr11:1780277 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.972+7G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000469583]\|not specified [RCV000443050]	Chr11:1753987 [GRCh38] Chr11:1775217 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.489G>A (p.Ala163=)	single nucleotide variant	not specified [RCV000439455]	Chr11:1757539 [GRCh38] Chr11:1778769 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.68+10C>T	single nucleotide variant	not specified [RCV000436222]	Chr11:1763782 [GRCh38] Chr11:1785012 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.*14C>T	single nucleotide variant	not specified [RCV000419827]	Chr11:1753489 [GRCh38] Chr11:1774719 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1230C>T (p.Ala410=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000467737]\|Seizures [RCV000718373]\|not specified [RCV000422494]	Chr11:1753512 [GRCh38] Chr11:1774742 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.828-18C>T	single nucleotide variant	not specified [RCV000436388]	Chr11:1754156 [GRCh38] Chr11:1775386 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.636G>T (p.Leu212=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632760]\|not specified [RCV000439920]	Chr11:1757392 [GRCh38] Chr11:1778622 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.510C>T (p.Gly170=)	single nucleotide variant	not specified [RCV000443594]	Chr11:1757518 [GRCh38] Chr11:1778748 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.-30G>C	single nucleotide variant	not specified [RCV000420042]	Chr11:1763889 [GRCh38] Chr11:1785119 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.817C>T (p.His273Tyr)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001037357]\|not provided [RCV000420091]	Chr11:1754916 [GRCh38] Chr11:1776146 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*10C>T	single nucleotide variant	not specified [RCV000436618]	Chr11:1753493 [GRCh38] Chr11:1774723 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.534C>G (p.Val178=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000869440]\|not specified [RCV000436645]	Chr11:1757494 [GRCh38] Chr11:1778724 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.*4C>G	single nucleotide variant	not specified [RCV000429936]	Chr11:1753499 [GRCh38] Chr11:1774729 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.945C>T (p.Ile315=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000870278]\|not specified [RCV000444153]	Chr11:1754021 [GRCh38] Chr11:1775251 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1071+12A>T	single nucleotide variant	not specified [RCV000430515]	Chr11:1753791 [GRCh38] Chr11:1775021 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.683_685TCT[1] (p.Phe229del)	microsatellite	Neuronal ceroid lipofuscinosis 10 [RCV000417103]	Chr11:1757340..1757342 [GRCh38] Chr11:1778570..1778572 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_001909.5(CTSD):c.184G>A (p.Val62Met)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000461942]	Chr11:1761353 [GRCh38] Chr11:1782583 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000463026]	Chr11:1753534 [GRCh38] Chr11:1774764 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.180A>G (p.Pro60=)	single nucleotide variant	Seizures [RCV000718590]\|not provided [RCV000464150]	Chr11:1761357 [GRCh38] Chr11:1782587 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.408C>G (p.Thr136=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000464513]	Chr11:1759032 [GRCh38] Chr11:1780262 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.891C>T (p.Gly297=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000469818]	Chr11:1754075 [GRCh38] Chr11:1775305 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1071+6C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000471585]	Chr11:1753797 [GRCh38] Chr11:1775027 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000476391]	Chr11:1757517 [GRCh38] Chr11:1778747 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.345C>T (p.Ile115=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000477425]	Chr11:1759523 [GRCh38] Chr11:1780753 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.704+5G>A	single nucleotide variant	not provided [RCV000483526]	Chr11:1757319 [GRCh38] Chr11:1778549 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.283G>A (p.Val95Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001106639]\|Neuronal ceroid lipofuscinosis [RCV000796838]\|not provided [RCV000483803]	Chr11:1759585 [GRCh38] Chr11:1780815 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.488C>T (p.Ala163Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000456725]	Chr11:1757540 [GRCh38] Chr11:1778770 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.64G>T (p.Val22Phe)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000457838]	Chr11:1763796 [GRCh38] Chr11:1785026 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1210G>T (p.Val404Leu)	single nucleotide variant	not provided [RCV000498815]	Chr11:1753532 [GRCh38] Chr11:1774762 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	copy number gain	See cases [RCV000511561]	Chr11:230615..37698540 [GRCh37] Chr11:11p15.5-12	pathogenic
NM_001909.5(CTSD):c.7C>T (p.Pro3Ser)	single nucleotide variant	not provided [RCV000494107]	Chr11:1763853 [GRCh38] Chr11:1785083 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.268dup (p.Gln90fs)	duplication	not provided [RCV000494186]	Chr11:1759599..1759600 [GRCh38] Chr11:1780829..1780830 [GRCh37] Chr11:11p15.5	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_001909.5(CTSD):c.653T>C (p.Leu218Pro)	single nucleotide variant	not provided [RCV000493037]	Chr11:1757375 [GRCh38] Chr11:1778605 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.471G>A (p.Ser157=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000701864]\|Seizures [RCV000720420]	Chr11:1758969 [GRCh38] Chr11:1780199 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_001909.5(CTSD):c.592A>G (p.Ile198Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632710]\|Seizures [RCV001255002]	Chr11:1757436 [GRCh38] Chr11:1778666 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.352+8A>T	single nucleotide variant	not provided [RCV000632757]	Chr11:1759508 [GRCh38] Chr11:1780738 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632681]	Chr11:1753881 [GRCh38] Chr11:1775111 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.101G>A (p.Arg34Gln)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632712]	Chr11:1761436 [GRCh38] Chr11:1782666 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632718]	Chr11:1753507 [GRCh38] Chr11:1774737 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.933G>A (p.Leu311=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632728]	Chr11:1754033 [GRCh38] Chr11:1775263 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.972+9C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001088576]\|not provided [RCV000733126]	Chr11:1753985 [GRCh38] Chr11:1775215 [GRCh37] Chr11:11p15.5	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.1023G>A (p.Lys341=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632753]\|not provided [RCV000827569]	Chr11:1753851 [GRCh38] Chr11:1775081 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632767]\|Seizures [RCV000717164]	Chr11:1759030 [GRCh38] Chr11:1780260 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.816C>A (p.Val272=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632771]	Chr11:1754917 [GRCh38] Chr11:1776147 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.867C>T (p.Gly289=)	single nucleotide variant	not specified [RCV000612256]	Chr11:1754099 [GRCh38] Chr11:1775329 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.627C>T (p.Asn209=)	single nucleotide variant	not specified [RCV000614996]	Chr11:1757401 [GRCh38] Chr11:1778631 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.-45A>G	single nucleotide variant	not specified [RCV000612989]	Chr11:1763904 [GRCh38] Chr11:1785134 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.69-12C>T	single nucleotide variant	not specified [RCV000613096]	Chr11:1761480 [GRCh38] Chr11:1782710 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1221C>T (p.Ala407=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000533638]	Chr11:1753521 [GRCh38] Chr11:1774751 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.492G>A (p.Ser164=)	single nucleotide variant	not provided [RCV000914216]\|not specified [RCV000616807]	Chr11:1757536 [GRCh38] Chr11:1778766 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.828-4G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632727]\|not specified [RCV000611128]	Chr11:1754142 [GRCh38] Chr11:1775372 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.882G>A (p.Val294=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000539647]	Chr11:1754084 [GRCh38] Chr11:1775314 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.19C>G (p.Leu7Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000558802]	Chr11:1763841 [GRCh38] Chr11:1785071 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.780C>T (p.Ser260=)	single nucleotide variant	not specified [RCV000604029]	Chr11:1754953 [GRCh38] Chr11:1776183 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.111G>A (p.Ser37=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632708]\|not provided [RCV000711336]	Chr11:1761426 [GRCh38] Chr11:1782656 [GRCh37] Chr11:11p15.5	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.1128G>A (p.Pro376=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000632733]	Chr11:1753614 [GRCh38] Chr11:1774844 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.-36G>C	single nucleotide variant	not specified [RCV000605540]	Chr11:1763895 [GRCh38] Chr11:1785125 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.704+18C>T	single nucleotide variant	not specified [RCV000607652]	Chr11:1757306 [GRCh38] Chr11:1778536 [GRCh37] Chr11:11p15.5	likely benign
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	copy number gain	See cases [RCV000512225]	Chr11:230615..25584362 [GRCh37] Chr11:11p15.5-14.3	pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	copy number gain	See cases [RCV000512477]	Chr11:230615..31995219 [GRCh37] Chr11:11p15.5-13	pathogenic
GRCh37/hg19 11p15.5(chr11:1690968-2277648)x3	copy number gain	See cases [RCV000512345]	Chr11:1690968..2277648 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.76C>A (p.Leu26Met)	single nucleotide variant	not provided [RCV000658314]	Chr11:1761461 [GRCh38] Chr11:1782691 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.229-19G>A	single nucleotide variant	not provided [RCV000658402]	Chr11:1759658 [GRCh38] Chr11:1780888 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.253A>G (p.Ile85Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000688842]	Chr11:1759615 [GRCh38] Chr11:1780845 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.37C>T (p.Leu13=)	single nucleotide variant	Seizures [RCV000716766]	Chr11:1763823 [GRCh38] Chr11:1785053 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1236C>G (p.Leu412=)	single nucleotide variant	Seizures [RCV000717158]	Chr11:1753506 [GRCh38] Chr11:1774736 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000807444]\|not provided [RCV000675954]	Chr11:1757415 [GRCh38] Chr11:1778645 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.353-6G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000692615]	Chr11:1759093 [GRCh38] Chr11:1780323 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.190G>A (p.Glu64Lys)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000697591]	Chr11:1761347 [GRCh38] Chr11:1782577 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.465_466inv (p.Val156Met)	inversion	Neuronal ceroid lipofuscinosis [RCV000688522]	Chr11:1758974..1758975 [GRCh38] Chr11:1780204..1780205 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	copy number gain	not provided [RCV000683372]	Chr11:230615..17099213 [GRCh37] Chr11:11p15.5-15.1	pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	copy number gain	not provided [RCV000683369]	Chr11:230615..9704511 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NM_001909.5(CTSD):c.977T>C (p.Met326Thr)	single nucleotide variant	Seizures [RCV000716813]	Chr11:1753897 [GRCh38] Chr11:1775127 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1036G>C (p.Gly346Arg)	single nucleotide variant	Seizures [RCV000716673]	Chr11:1753838 [GRCh38] Chr11:1775068 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000767946]\|Neuronal ceroid lipofuscinosis [RCV000703279]	Chr11:1753559 [GRCh38] Chr11:1774789 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.505C>G (p.Leu169Val)	single nucleotide variant	Seizures [RCV000717869]	Chr11:1757523 [GRCh38] Chr11:1778753 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1170C>G (p.Ile390Met)	single nucleotide variant	Seizures [RCV000720764]	Chr11:1753572 [GRCh38] Chr11:1774802 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.431C>G (p.Ser144Trp)	single nucleotide variant	Seizures [RCV000720253]	Chr11:1759009 [GRCh38] Chr11:1780239 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.633G>C (p.Val211=)	single nucleotide variant	Seizures [RCV000720758]	Chr11:1757395 [GRCh38] Chr11:1778625 [GRCh37] Chr11:11p15.5	likely benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_001909.5(CTSD):c.447G>A (p.Gly149=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000941234]	Chr11:1758993 [GRCh38] Chr11:1780223 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.6G>A (p.Gln2=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000983303]	Chr11:1763854 [GRCh38] Chr11:1785084 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.622G>A (p.Val208Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001059091]	Chr11:1757406 [GRCh38] Chr11:1778636 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.463A>T (p.Thr155Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001059443]	Chr11:1758977 [GRCh38] Chr11:1780207 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.203C>T (p.Pro68Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001035972]	Chr11:1761334 [GRCh38] Chr11:1782564 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.74C>T (p.Pro25Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000807827]	Chr11:1761463 [GRCh38] Chr11:1782693 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.-6G>T	single nucleotide variant	not provided [RCV000827263]	Chr11:1763865 [GRCh38] Chr11:1785095 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.99C>G (p.Arg33=)	single nucleotide variant	not provided [RCV000925391]	Chr11:1761438 [GRCh38] Chr11:1782668 [GRCh37] Chr11:11p15.5	likely benign
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	copy number gain	Russell-Silver syndrome [RCV000767567]	Chr11:193146..12643136 [GRCh37] Chr11:11p15.5-15.3	pathogenic
NM_001909.5(CTSD):c.697C>T (p.Leu233=)	single nucleotide variant	not provided [RCV000868179]	Chr11:1757331 [GRCh38] Chr11:1778561 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.993G>A (p.Lys331=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000869677]	Chr11:1753881 [GRCh38] Chr11:1775111 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.142G>A (p.Ala48Thr)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000822425]	Chr11:1761395 [GRCh38] Chr11:1782625 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.978G>A (p.Met326Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000815835]	Chr11:1753896 [GRCh38] Chr11:1775126 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.52G>A (p.Ala18Thr)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000802812]	Chr11:1763808 [GRCh38] Chr11:1785038 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1062C>T (p.Tyr354=)	single nucleotide variant	not provided [RCV000976653]	Chr11:1753812 [GRCh38] Chr11:1775042 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.229-25C>T	single nucleotide variant	not provided [RCV000833044]	Chr11:1759664 [GRCh38] Chr11:1780894 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.352+42T>C	single nucleotide variant	not provided [RCV000833045]	Chr11:1759474 [GRCh38] Chr11:1780704 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.223A>G (p.Met75Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000815166]	Chr11:1761314 [GRCh38] Chr11:1782544 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000805106]	Chr11:1753805 [GRCh38] Chr11:1775035 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.301T>C (p.Ser101Pro)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000814286]	Chr11:1759567 [GRCh38] Chr11:1780797 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.472-27G>T	single nucleotide variant	not provided [RCV000832809]	Chr11:1757583 [GRCh38] Chr11:1778813 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.174G>A (p.Ala58=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001088342]\|not provided [RCV000830310]	Chr11:1761363 [GRCh38] Chr11:1782593 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.927C>T (p.Arg309=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000816766]	Chr11:1754039 [GRCh38] Chr11:1775269 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.10:g.1764137C>T	single nucleotide variant	not provided [RCV000837764]	Chr11:1764137 [GRCh38] Chr11:1785367 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.828-247_828-221del	deletion	not provided [RCV000831028]	Chr11:1754359..1754385 [GRCh38] Chr11:1775589..1775615 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.704+233G>A	single nucleotide variant	not provided [RCV000838908]	Chr11:1757091 [GRCh38] Chr11:1778321 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.472-161G>T	single nucleotide variant	not provided [RCV000838910]	Chr11:1757717 [GRCh38] Chr11:1778947 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.68+6G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000800807]	Chr11:1763786 [GRCh38] Chr11:1785016 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000824082]	Chr11:1759070 [GRCh38] Chr11:1780300 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.973-14G>A	single nucleotide variant	not provided [RCV000827264]	Chr11:1753915 [GRCh38] Chr11:1775145 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.141T>G (p.Ile47Met)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000795249]	Chr11:1761396 [GRCh38] Chr11:1782626 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.769G>A (p.Gly257Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000812114]	Chr11:1754964 [GRCh38] Chr11:1776194 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.184G>T (p.Val62Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001067786]	Chr11:1761353 [GRCh38] Chr11:1782583 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.69-64C>T	single nucleotide variant	not provided [RCV000833043]	Chr11:1761532 [GRCh38] Chr11:1782762 [GRCh37] Chr11:11p15.5	likely benign
NC_000011.10:g.1764171T>C	single nucleotide variant	not provided [RCV000828470]	Chr11:1764171 [GRCh38] Chr11:1785401 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.570C>T (p.Phe190=)	single nucleotide variant	not provided [RCV000869852]	Chr11:1757458 [GRCh38] Chr11:1778688 [GRCh37] Chr11:11p15.5	likely benign
NC_000011.10:g.1764217C>T	single nucleotide variant	not provided [RCV000832208]	Chr11:1764217 [GRCh38] Chr11:1785447 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.705-74C>T	single nucleotide variant	not provided [RCV000829889]	Chr11:1755102 [GRCh38] Chr11:1776332 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.1072-34T>C	single nucleotide variant	not provided [RCV000829988]	Chr11:1753704 [GRCh38] Chr11:1774934 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.68+251G>C	single nucleotide variant	not provided [RCV000832763]	Chr11:1763541 [GRCh38] Chr11:1784771 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.352+48A>G	single nucleotide variant	not provided [RCV000832782]	Chr11:1759468 [GRCh38] Chr11:1780698 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.288C>T (p.Phe96=)	single nucleotide variant	not provided [RCV000870246]	Chr11:1759580 [GRCh38] Chr11:1780810 [GRCh37] Chr11:11p15.5	likely benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	copy number gain	not provided [RCV001006372]	Chr11:235934..33826995 [GRCh37] Chr11:11p15.5-13	pathogenic
NM_001909.5(CTSD):c.478T>C (p.Cys160Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001226038]	Chr11:1757550 [GRCh38] Chr11:1778780 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.646G>A (p.Asp216Asn)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001242360]	Chr11:1757382 [GRCh38] Chr11:1778612 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1232G>A (p.Arg411His)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001065084]	Chr11:1753510 [GRCh38] Chr11:1774740 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1101G>A (p.Leu367=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000892288]	Chr11:1753641 [GRCh38] Chr11:1774871 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.729T>C (p.Gly243=)	single nucleotide variant	not provided [RCV000932874]	Chr11:1755004 [GRCh38] Chr11:1776234 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.237C>T (p.Tyr79=)	single nucleotide variant	not provided [RCV000924545]	Chr11:1759631 [GRCh38] Chr11:1780861 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1158C>T (p.Gly386=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001218426]	Chr11:1753584 [GRCh38] Chr11:1774814 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*133G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001106530]	Chr11:1753370 [GRCh38] Chr11:1774600 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.285C>T (p.Val95=)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001106638]	Chr11:1759583 [GRCh38] Chr11:1780813 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1228G>C (p.Ala410Pro)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001236303]	Chr11:1753514 [GRCh38] Chr11:1774744 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001108708]	Chr11:1753520 [GRCh38] Chr11:1774750 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.631G>A (p.Val211Met)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001220875]	Chr11:1757397 [GRCh38] Chr11:1778627 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.898C>T (p.Leu300Phe)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001240980]	Chr11:1754068 [GRCh38] Chr11:1775298 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.190G>C (p.Glu64Gln)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001045318]	Chr11:1761347 [GRCh38] Chr11:1782577 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.307C>G (p.Leu103Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001243878]	Chr11:1759561 [GRCh38] Chr11:1780791 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.491C>T (p.Ser164Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001227961]	Chr11:1757537 [GRCh38] Chr11:1778767 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*390G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001105390]	Chr11:1753113 [GRCh38] Chr11:1774343 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.665A>G (p.Lys222Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001071491]	Chr11:1757363 [GRCh38] Chr11:1778593 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.315C>A (p.Val105=)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001106637]	Chr11:1759553 [GRCh38] Chr11:1780783 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.9:g.(?_532616)_(2906985_?)dup	duplication	Neuronal ceroid lipofuscinosis [RCV001032557]	Chr11:532616..2906985 [GRCh37] Chr11:11p15.5-15.4	uncertain significance
NM_001909.5(CTSD):c.49C>T (p.Pro17Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001108796]	Chr11:1763811 [GRCh38] Chr11:1785041 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*200C>G	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001106529]	Chr11:1753303 [GRCh38] Chr11:1774533 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*130G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001106531]	Chr11:1753373 [GRCh38] Chr11:1774603 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.614G>A (p.Arg205His)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001069325]	Chr11:1757414 [GRCh38] Chr11:1778644 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.9:g.(?_612625)_(2193840_?)dup	duplication	Immunodeficiency 39 [RCV001033372]	Chr11:612625..2193840 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.716C>T (p.Ala239Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001050398]	Chr11:1755017 [GRCh38] Chr11:1776247 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.70A>T (p.Ile24Phe)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001050422]	Chr11:1761467 [GRCh38] Chr11:1782697 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.215A>G (p.Lys72Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001236740]	Chr11:1761322 [GRCh38] Chr11:1782552 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.464_465delinsGC (p.Thr155Ser)	indel	Neuronal ceroid lipofuscinosis [RCV001060987]	Chr11:1758975..1758976 [GRCh38] Chr11:1780205..1780206 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.827+2T>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001057268]	Chr11:1754904 [GRCh38] Chr11:1776134 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_001909.5(CTSD):c.*651C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001103462]	Chr11:1752852 [GRCh38] Chr11:1774082 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*555C>A	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001103463]	Chr11:1752948 [GRCh38] Chr11:1774178 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*509C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001103464]	Chr11:1752994 [GRCh38] Chr11:1774224 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001230679]	Chr11:1763832 [GRCh38] Chr11:1785062 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*210C>G	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001106528]	Chr11:1753293 [GRCh38] Chr11:1774523 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*98G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001106532]	Chr11:1753405 [GRCh38] Chr11:1774635 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*494C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001103465]	Chr11:1753009 [GRCh38] Chr11:1774239 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.999C>A (p.Ser333=)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001103556]	Chr11:1753875 [GRCh38] Chr11:1775105 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001103555]	Chr11:1753840 [GRCh38] Chr11:1775070 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.829G>A (p.Val277Met)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001042243]	Chr11:1754137 [GRCh38] Chr11:1775367 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.73C>T (p.Pro25Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001052450]	Chr11:1761464 [GRCh38] Chr11:1782694 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001215480]	Chr11:1759031 [GRCh38] Chr11:1780261 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.640G>A (p.Val214Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001215510]	Chr11:1757388 [GRCh38] Chr11:1778618 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*398G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001105389]	Chr11:1753105 [GRCh38] Chr11:1774335 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*375A>G	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001105391]	Chr11:1753128 [GRCh38] Chr11:1774358 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.*330G>T	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001105392]	Chr11:1753173 [GRCh38] Chr11:1774403 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3	copy number gain	not provided [RCV001259591]	Chr11:1436158..2321134 [GRCh37] Chr11:11p15.5	pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	copy number gain	See cases [RCV001263059]	Chr11:230615..4851537 [GRCh37] Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	copy number gain	Russell-Silver syndrome [RCV001263222]	Chr11:210300..8664358 [GRCh37] Chr11:11p15.5-15.4	pathogenic

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:2529	AgrOrtholog
COSMIC	CTSD	COSMIC
Ensembl Genes	ENSG00000117984	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000236671	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000356164	UniProtKB/TrEMBL
	ENSP00000402586	UniProtKB/TrEMBL
	ENSP00000404902	UniProtKB/TrEMBL
	ENSP00000415036	UniProtKB/TrEMBL
	ENSP00000490316	UniProtKB/TrEMBL
	ENSP00000490344	UniProtKB/TrEMBL
	ENSP00000490471	UniProtKB/TrEMBL
	ENSP00000490598	UniProtKB/TrEMBL
	ENSP00000490770	UniProtKB/TrEMBL
	ENSP00000490897	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000236671	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000367196	UniProtKB/TrEMBL
	ENST00000429746	UniProtKB/TrEMBL
	ENST00000433655	UniProtKB/TrEMBL
	ENST00000438213	UniProtKB/TrEMBL
	ENST00000636571	UniProtKB/TrEMBL
	ENST00000636843	UniProtKB/TrEMBL
	ENST00000637381	UniProtKB/TrEMBL
	ENST00000637387	UniProtKB/TrEMBL
	ENST00000637815	UniProtKB/TrEMBL
	ENST00000637915	UniProtKB/TrEMBL
Gene3D-CATH	2.40.70.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000117984	GTEx
HGNC ID	HGNC:2529	ENTREZGENE
Human Proteome Map	CTSD	Human Proteome Map
InterPro	Aspartic_peptidase_A1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Aspartic_peptidase_AS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Aspartic_peptidase_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Cathepsin_D	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PEPTIDASE_A1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Peptidase_aspartic_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:1509	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	1509	ENTREZGENE
OMIM	116840	OMIM
	610127	OMIM
PANTHER	PTHR13683	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	A1_Propeptide	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Asp	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA27029	PharmGKB
PRINTS	PEPSIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	ASP_PROTEASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PEPTIDASE_A1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF50630	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0S2Z3L4_HUMAN	UniProtKB/TrEMBL
	A0A1B0GV01_HUMAN	UniProtKB/TrEMBL
	A0A1B0GV23_HUMAN	UniProtKB/TrEMBL
	A0A1B0GVD5_HUMAN	UniProtKB/TrEMBL
	A0A1B0GVP3_HUMAN	UniProtKB/TrEMBL
	A0A1B0GW44_HUMAN	UniProtKB/TrEMBL
	A0A1B0GWE8_HUMAN	UniProtKB/TrEMBL
	C9JH19_HUMAN	UniProtKB/TrEMBL
	CATD_HUMAN	UniProtKB/Swiss-Prot
	F8W787_HUMAN	UniProtKB/TrEMBL
	F8WD96_HUMAN	UniProtKB/TrEMBL
	H7C1V0_HUMAN	UniProtKB/TrEMBL
	P07339	ENTREZGENE
	V9HWI3	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	Q6IB57	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)