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:2529

Description:

Enables peptidase activity. Involved in several processes, including lipoprotein catabolic process; positive regulation of apoptotic process; and positive regulation of cysteine-type endopeptidase activity involved in apoptotic process. Located in 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

Previously 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

Alliance Orthologs

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 (green monkey):	CTSD (cathepsin D)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ctsd (cathepsin D)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Rhoj (ras homolog family member J)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Ctsd (cathepsin D)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Ctsd (cathepsin D)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ctsd (cathepsin D)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	PEP4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG10104	Alliance	DIOPT (InParanoid\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	asp-4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	cathD	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus laevis (African clawed frog):	ctsd.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	ctsd	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB)

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	11	1,752,755 - 1,763,927 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	1,752,752 - 1,764,573 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	1,773,985 - 1,785,157 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	1,730,561 - 1,741,798 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	1,730,560 - 1,741,798	NCBI
Celera	11	1,812,103 - 1,823,339 (-)	NCBI		Celera
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
T2T-CHM13v2.0	11	1,838,305 - 1,849,587 (-)	NCBI		T2T-CHM13v2.0

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)

Beckwith-Wiedemann syndrome (IAGP)

breast cancer (IMP)

COVID-19 (HEP)

delta beta-thalassemia (IAGP)

developmental and epileptic encephalopathy (IAGP)

Diabetic Nephropathies (EXP)

early infantile epileptic encephalopathy (IAGP)

epilepsy (IAGP)

genetic disease (IAGP)

hepatocellular carcinoma (EXP)

immunodeficiency 39 (IAGP)

kidney disease (EXP)

Neoplasm Invasiveness (EXP)

Neoplasm Metastasis (IEP)

neuronal ceroid lipofuscinosis (IAGP)

neuronal ceroid lipofuscinosis 10 (EXP,IAGP,ISS)

osteoarthritis (EXP)

Prostatic Neoplasms (EXP)

renal cell carcinoma (EXP)

rheumatoid arthritis (EXP)

Segawa Syndrome, Autosomal Recessive (IAGP)

Weight Gain (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-pilocarpine (ISO)

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

(1->4)-beta-D-glucan (ISO)

(R)-linalyl acetate (EXP)

(R)-lipoic acid (ISO)

(R,R,R)-alpha-tocopherol (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)

1,3-dichloropropan-2-ol (EXP)

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-chloropropane-1,2-diol (EXP)

3-methylcholanthrene (EXP)

4,4'-sulfonyldiphenol (EXP,ISO)

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

4-hydroxynon-2-enal (EXP)

4-nitroquinoline N-oxide (ISO)

4-nonylphenol (EXP)

4-phenylbutyric acid (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)

acrylamide (ISO)

afimoxifene (EXP)

aflatoxin B1 (EXP,ISO)

Aflatoxin B2 alpha (EXP)

aldehydo-D-glucosamine (EXP)

all-trans-retinoic acid (EXP)

alliin (ISO)

aloxistatin (EXP)

alpha,alpha-trehalose (ISO)

alpha-naphthoflavone (EXP)

alpha-pinene (EXP)

alpha-terpineol (EXP)

alpha-Zearalanol (ISO)

amiodarone (EXP)

amlodipine (ISO)

ammonium chloride (ISO)

amodiaquine (EXP)

anthocyanin (ISO)

aristolochic acid A (ISO)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (EXP,ISO)

arsenous acid (EXP)

Azaspiracid (EXP)

bafilomycin A1 (EXP)

beauvericin (EXP)

benzamide (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

benzo[b]fluoranthene (ISO)

berberine (EXP)

beta-D-glucosamine (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (EXP,ISO)

bortezomib (EXP)

brucine (EXP,ISO)

Brusatol (ISO)

buspirone (ISO)

cadmium atom (EXP,ISO)

cadmium dichloride (EXP,ISO)

caffeine (EXP)

cannabidiol (EXP)

carbon nanotube (ISO)

celecoxib (EXP)

chloroquine (EXP,ISO)

chlorpyrifos (ISO)

choline (ISO)

chromium(6+) (ISO)

cimetidine (ISO)

cis-caffeic acid (ISO)

cisplatin (EXP,ISO)

clofibrate (ISO)

cobalt dichloride (EXP,ISO)

cocaine (ISO)

coenzyme Q10 (ISO)

copper atom (EXP)

copper(0) (EXP)

copper(II) chloride (EXP,ISO)

curcumin (EXP,ISO)

cyclophosphamide (ISO)

cyclosporin A (EXP)

cyproconazole (ISO)

cyprodinil (EXP)

cysteamine (ISO)

DDE (EXP)

DDT (EXP)

deguelin (EXP)

dexamethasone (EXP,ISO)

dextran sulfate (ISO)

Diallyl sulfide (EXP)

diarsenic trioxide (EXP)

diarylheptanoid (EXP)

Dibutyl phosphate (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)

fangchinoline (EXP)

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)

ginsenoside Rb1 (EXP)

glycidyl methacrylate (EXP)

glyphosate (EXP)

hydrogen peroxide (EXP)

hydroquinone O-beta-D-glucopyranoside (ISO)

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

indole-3-methanol (EXP)

indometacin (ISO)

inulin (ISO)

isoprenaline (ISO)

ivermectin (EXP)

kainic acid (ISO)

L-ascorbic acid (ISO)

L-methionine (ISO)

lead diacetate (EXP)

lead(0) (EXP)

leflunomide (ISO)

Liensinine (ISO)

limonene (EXP)

linalool (EXP)

linalyl acetate (EXP)

lipoic acid (ISO)

lipopolysaccharide (ISO)

lithium atom (ISO)

lithium hydride (ISO)

lucanthone (EXP)

malathion (ISO)

manganese atom (ISO)

manganese(0) (ISO)

manganese(II) chloride (ISO)

mangiferin (ISO)

Mecamylamine (ISO)

medroxyprogesterone acetate (EXP)

melatonin (EXP)

methamphetamine (ISO)

methapyrilene (ISO)

miconazole (EXP)

morin (ISO)

morusin (EXP)

myo-inositol hexakisphosphate (ISO)

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

N-acetyl-L-cysteine (EXP)

N-acetylsphingosine (ISO)

N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal (EXP)

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)

oxidopamine (EXP)

ozone (EXP,ISO)

p-tert-Amylphenol (EXP)

paracetamol (ISO)

paraquat (EXP,ISO)

pepstatin A (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP,ISO)

phenacetin (ISO)

phenobarbital (ISO)

phenylhydrazine (ISO)

phenylmercury acetate (EXP)

PhIP (EXP,ISO)

phorbol 13-acetate 12-myristate (EXP)

phytoestrogen (EXP)

picene (EXP)

piperonyl butoxide (ISO)

pirimiphos-methyl (ISO)

pirinixic acid (ISO)

potassium dichromate (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

pristane (ISO)

progesterone (EXP)

propiconazole (ISO)

quercetin (EXP)

quizartinib (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,ISO)

sodium fluoride (ISO)

Soman (ISO)

stilben-4-ol (EXP)

stilbene-4,4'-diol (EXP)

streptozocin (ISO)

swainsonine (ISO)

tamibarotene (EXP)

tamoxifen (EXP)

tea tree oil (EXP)

temozolomide (EXP)

testosterone (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

thiram (EXP)

titanium dioxide (EXP,ISO)

trans-caffeic acid (ISO)

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

trichloroethene (ISO)

triclosan (EXP)

triptonide (ISO)

tunicamycin (EXP)

valdecoxib (ISO)

valproic acid (EXP)

vancomycin (ISO)

vinclozolin (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 (IEA,ISO)

epithelial tube branching involved in lung morphogenesis (ISO)

execution phase of apoptosis (IDA)

insulin catabolic process (IEA)

insulin receptor recycling (IEA)

lipoprotein catabolic process (IDA)

positive regulation of apoptotic process (IDA)

protein catabolic process (ISO)

proteolysis (IBA,IDA,IEA,IMP)

regulation of establishment of protein localization (IDA)

response to nutrient levels (ISO)

synaptic vesicle endosomal processing (ISO)

vesicle-mediated transport in synapse (ISO)

Cellular Component

collagen-containing extracellular matrix (HDA)

cytosol (IDA)

endosome lumen (IEA,ISO)

endosome membrane (IDA)

extracellular exosome (HDA)

extracellular region (HDA,IEA,NAS,TAS)

extracellular space (HDA,IBA,IEA,ISS)

ficolin-1-rich granule lumen (TAS)

GABA-ergic synapse (ISO)

lysosomal lumen (TAS)

lysosomal membrane (IDA)

lysosome (IBA,IDA,IEA)

melanosome (IEA)

membrane raft (IDA)

presynaptic endosome (ISO)

specific granule lumen (TAS)

tertiary granule lumen (TAS)

Molecular Function

aspartic-type endopeptidase activity (IBA,IEA,TAS)

aspartic-type peptidase activity (IEA,ISS)

cysteine-type endopeptidase activity (TAS)

endopeptidase activity (IEA,ISO)

hydrolase activity (IEA)

peptidase activity (IDA,IEA,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

Apnea (IAGP)

Ataxia (IAGP)

Autosomal recessive inheritance (IAGP)

Cerebellar atrophy (IAGP)

Cerebral atrophy (IAGP)

Childhood onset (IAGP)

Congenital onset (IAGP)

Exaggerated startle response (IAGP)

Increased neuronal autofluorescent lipopigment (IAGP)

Intellectual disability (IAGP)

Intellectual disability, progressive (IAGP)

Intellectual disability, severe (IAGP)

Low-set ears (IAGP)

Mental deterioration (IAGP)

Microcephaly (IAGP)

Myoclonic seizure (IAGP)

Neonatal death (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)

Seizure (IAGP)

Sensory axonal neuropathy (IAGP)

Sloping forehead (IAGP)

Spasticity (IAGP)

Split hand (IAGP)

Status epilepticus (IAGP)

Vascular granular osmiophilic material deposition (IAGP)

Visual loss (IAGP)

Wide nasal bridge (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Degradation of misfolded proteins in neurodegenerative diseases: therapeutic targets and strategies.	Ciechanover A and Kwon YT, Exp Mol Med. 2015 Mar 13;47:e147. doi: 10.1038/emm.2014.117.
2.	Predictive value of cathepsin-D for cervical lymph node metastasis in head and neck squamous cell carcinoma.	Gandour-Edwards R, etal., Head Neck 1999 Dec;21(8):718-22.
3.	Down-regulation of cathepsin-D expression by antisense gene transfer inhibits tumor growth and experimental lung metastasis of human breast cancer cells.	Glondu M, etal., Oncogene 2002 Aug 1;21(33):5127-34.
4.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
5.	Differential expression of cysteine and aspartic proteases during progression of atherosclerosis in apolipoprotein E-deficient mice.	Jormsjo S, etal., Am J Pathol. 2002 Sep;161(3):939-45.
6.	Non-replication of association between cathepsin D genotype and late onset Alzheimer disease.	Menzer G, etal., Am J Med Genet 2001 Mar 8;105(2):179-82.
7.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
8.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
9.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
10.	Role of chaperone-mediated autophagy in degrading Huntington's disease-associated huntingtin protein.	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.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
13.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14.	Oxidative imbalance and cathepsin D changes as peripheral blood biomarkers of Alzheimer disease: a pilot study.	Straface E, etal., FEBS Lett 2005 May 23;579(13):2759-66. Epub 2005 Apr 19.
15.	Autophagy in the heart and liver during normal aging and calorie restriction.	Wohlgemuth SE, etal., Rejuvenation Res. 2007 Sep;10(3):281-92.
16.	Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients.	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:20855565	PMID:20926008	PMID:21145461	PMID:21148553	PMID:21298030	PMID:21311773	PMID:21470957	PMID:21533003	PMID:21632707	PMID:21674799	PMID:21709160	PMID:21789704
PMID:21800051	PMID:21873635	PMID:21909273	PMID:21948970	PMID:22081071	PMID:22190034	PMID:22244896	PMID:22261194	PMID:22268729	PMID:22302483	PMID:22388353	PMID:22399610
PMID:22439866	PMID:22476353	PMID:22528489	PMID:22542809	PMID:22623531	PMID:22627201	PMID:22816225	PMID:22824147	PMID:22898364	PMID:22898924	PMID:22939629	PMID:22949512
PMID:22964611	PMID:22990118	PMID:22996917	PMID:23042275	PMID:23065739	PMID:23107604	PMID:23219593	PMID:23250759	PMID:23304142	PMID:23376485	PMID:23415546	PMID:23439581
PMID:23466190	PMID:23483898	PMID:23499937	PMID:23533145	PMID:23686814	PMID:23840360	PMID:23868063	PMID:23871913	PMID:23874603	PMID:23954850	PMID:24044567	PMID:24138030
PMID:24198402	PMID:24259486	PMID:24281128	PMID:24366813	PMID:24423188	PMID:24467213	PMID:24511668	PMID:24656773	PMID:24898658	PMID:24981860	PMID:25037231	PMID:25095637
PMID:25147182	PMID:25204797	PMID:25324306	PMID:25464930	PMID:25611836	PMID:25617759	PMID:25653352	PMID:25665578	PMID:25712867	PMID:25852190	PMID:25865307	PMID:25911051
PMID:26018151	PMID:26086961	PMID:26183398	PMID:26186194	PMID:26203049	PMID:26217791	PMID:26344002	PMID:26344197	PMID:26351775	PMID:26448324	PMID:26465331	PMID:26496610
PMID:26499835	PMID:26507101	PMID:26519755	PMID:26618866	PMID:26657266	PMID:26718887	PMID:26728129	PMID:26867770	PMID:26871637	PMID:26943237	PMID:26995190	PMID:27068509
PMID:27271556	PMID:27291402	PMID:27333034	PMID:27629410	PMID:27751915	PMID:27922112	PMID:28065597	PMID:28073925	PMID:28199306	PMID:28218663	PMID:28336215	PMID:28344315
PMID:28390177	PMID:28493053	PMID:28514442	PMID:28515276	PMID:28543404	PMID:28675934	PMID:28692057	PMID:28791438	PMID:28917980	PMID:28986522	PMID:29024694	PMID:29036611
PMID:29117863	PMID:29375176	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:30884312	PMID:30945288	PMID:30948266	PMID:31099754	PMID:31134487	PMID:31180492	PMID:31184779
PMID:31300519	PMID:31332168	PMID:31340140	PMID:31409639	PMID:31536960	PMID:31862139	PMID:31910296	PMID:31936569	PMID:31960265	PMID:31995728	PMID:32140098	PMID:32176724
PMID:32235678	PMID:32253787	PMID:32323319	PMID:32409323	PMID:32572497	PMID:32578168	PMID:32614325	PMID:32814053	PMID:32867726	PMID:32989256	PMID:32994395	PMID:33144569
PMID:33202088	PMID:33293479	PMID:33445607	PMID:33545068	PMID:33611777	PMID:33713388	PMID:33932147	PMID:33961781	PMID:33964876	PMID:33991468	PMID:34079125	PMID:34116545
PMID:34311200	PMID:34331747	PMID:34445801	PMID:34638702	PMID:34709727	PMID:34728620	PMID:34825085	PMID:34901782	PMID:35271311	PMID:35338135	PMID:35446349	PMID:35562734
PMID:35563171	PMID:35568845	PMID:35583604	PMID:35696571	PMID:35763644	PMID:35831314	PMID:35831895	PMID:35864588	PMID:35906200	PMID:35944360	PMID:36215168	PMID:36217030
PMID:36517590	PMID:36526897	PMID:36636478	PMID:36898370	PMID:37059091	PMID:37120454	PMID:37167062	PMID:37201357	PMID:37253092	PMID:37689310	PMID:37794357	PMID:37826948
PMID:37827155	PMID:38113892	PMID:38163647	PMID:38420756	PMID:38837708	PMID:38917962	PMID:38928416	PMID:38943005	PMID:39019115	PMID:39147351	PMID:39238192

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	11	1,752,755 - 1,763,927 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	1,752,752 - 1,764,573 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	1,773,985 - 1,785,157 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	1,730,561 - 1,741,798 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	1,730,560 - 1,741,798	NCBI
Celera	11	1,812,103 - 1,823,339 (-)	NCBI		Celera
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
T2T-CHM13v2.0	11	1,838,305 - 1,849,587 (-)	NCBI		T2T-CHM13v2.0

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	GRCm39	mm39
GRCm39 Ensembl	7	141,929,648 - 141,941,775 (-)	Ensembl		GRCm39 Ensembl
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	MGSCv37	mm9	NCBIm37
MGSCv36	7	142,185,306 - 142,197,260 (-)	NCBI		MGSCv36	mm8
Celera	7	142,131,673 - 142,143,627 (-)	NCBI		Celera
Cytogenetic Map	7	F5	NCBI
cM Map	7	87.93	NCBI

Ctsd
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	206,956,945 - 206,968,821 (-)	NCBI		GRCr8
mRatBN7.2	1	197,527,467 - 197,539,343 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	197,527,467 - 197,539,488 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	205,900,151 - 205,912,026 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	212,986,334 - 212,998,210 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	205,660,486 - 205,672,362 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
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	RGSC_v3.4	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 Ensembl	NW_004955422	13,576,202 - 13,584,298 (-)	Ensembl	ChiLan1.0
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
NHGRI_mPanPan1-v2	9	4,174,444 - 4,185,715 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	3,385,404 - 3,396,669 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	1,789,326 - 1,800,524 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	1,821,442 - 1,832,970 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

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	18	46,010,440 - 46,019,457 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	18	46,010,440 - 46,019,457 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	18	44,620,711 - 44,629,727 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	18	46,691,854 - 46,700,871 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	18	46,676,835 - 46,700,888 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	18	46,139,444 - 46,148,460 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	18	45,719,812 - 45,728,828 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	18	46,465,360 - 46,474,395 (-)	NCBI		UU_Cfam_GSD_1.0

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
HiC_Itri_2	NW_024404947	1,426,783 - 1,436,952 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936816	680,798 - 691,039 (-)	Ensembl	SpeTri2.0	SpeTri2.0 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 - 1,197,643 (-)	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 - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	1,570,163 - 1,581,857 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	1,570,069 - 1,581,833 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	98,757,257 - 98,768,016 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ctsd
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624767	14,660,936 - 14,671,671 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624767	14,661,058 - 14,671,116 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CTSD
688 total Variants

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	Neuronal ceroid lipofuscinosis [RCV002060283]\|not provided [RCV000521730]	Chr11:1754042 [GRCh38] Chr11:1775272 [GRCh37] Chr11:11p15.5	likely benign\|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 10 [RCV002476111]\|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	Neuronal ceroid lipofuscinosis [RCV001853677]\|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	Inborn genetic diseases [RCV002336243]\|Neuronal ceroid lipofuscinosis 10 [RCV000087098]\|Neuronal ceroid lipofuscinosis [RCV000804177]\|not specified [RCV003330432]	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	Neuronal ceroid lipofuscinosis [RCV001399180]\|not provided [RCV001704020]\|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	Inborn genetic diseases [RCV002312083]\|Neuronal ceroid lipofuscinosis 10 [RCV000625067]\|Neuronal ceroid lipofuscinosis [RCV000229710]\|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	Inborn genetic diseases [RCV002312084]\|Neuronal ceroid lipofuscinosis 10 [RCV000625347]\|Neuronal ceroid lipofuscinosis [RCV001517366]\|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	Inborn genetic diseases [RCV002313874]\|Neuronal ceroid lipofuscinosis 10 [RCV000625346]\|Neuronal ceroid lipofuscinosis [RCV001084022]\|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	Inborn genetic diseases [RCV002312085]\|Neuronal ceroid lipofuscinosis 10 [RCV000625345]\|Neuronal ceroid lipofuscinosis [RCV001517365]\|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	Inborn genetic diseases [RCV002312086]\|Neuronal ceroid lipofuscinosis 10 [RCV000625344]\|Neuronal ceroid lipofuscinosis [RCV001517364]\|not provided [RCV000675955]\|not specified [RCV000116856]	Chr11:1758975 [GRCh38] Chr11:1758975..1758976 [GRCh38] Chr11:1780205 [GRCh37] Chr11:1780205..1780206 [GRCh37] Chr11:11p15.5	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)	single nucleotide variant	Inborn genetic diseases [RCV002313875]\|Neuronal ceroid lipofuscinosis 10 [RCV000625068]\|Neuronal ceroid lipofuscinosis [RCV001079523]\|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	Neuronal ceroid lipofuscinosis 10 [RCV002498595]\|Neuronal ceroid lipofuscinosis [RCV002055516]\|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	Inborn genetic diseases [RCV002312557]\|Neuronal ceroid lipofuscinosis [RCV000525344]\|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	CTSD-related disorder [RCV003965044]\|Inborn genetic diseases [RCV002312558]\|Neuronal ceroid lipofuscinosis 10 [RCV000262670]\|Neuronal ceroid lipofuscinosis [RCV001082524]\|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	Inborn genetic diseases [RCV002312870]\|Neuronal ceroid lipofuscinosis 10 [RCV000268185]\|Neuronal ceroid lipofuscinosis [RCV000473433]\|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	CTSD-related disorder [RCV003915248]\|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]\|Neuronal ceroid lipofuscinosis [RCV002055517]\|not provided [RCV001580047]\|not specified [RCV000124627]	Chr11:1753791 [GRCh38] Chr11:1775021 [GRCh37] Chr11:11p15.5	benign\|likely benign\|uncertain significance
NM_001909.5(CTSD):c.1077G>A (p.Ser359=)	single nucleotide variant	Inborn genetic diseases [RCV002415612]\|Neuronal ceroid lipofuscinosis [RCV001401821]\|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 provided [RCV004718000]\|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	Inborn genetic diseases [RCV002316363]\|Neuronal ceroid lipofuscinosis 10 [RCV002498596]\|Neuronal ceroid lipofuscinosis [RCV001467036]\|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	Neuronal ceroid lipofuscinosis [RCV001854685]\|not specified [RCV000124635]	Chr11:1761309 [GRCh38] Chr11:1782539 [GRCh37] Chr11:11p15.5	benign\|uncertain significance
NM_001909.5(CTSD):c.228+18G>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002055518]\|not specified [RCV000124636]	Chr11:1761291 [GRCh38] Chr11:1782521 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.240C>T (p.Tyr80=)	single nucleotide variant	CTSD-related disorder [RCV003965045]\|Inborn genetic diseases [RCV002316364]\|Neuronal ceroid lipofuscinosis 10 [RCV001108794]\|Neuronal ceroid lipofuscinosis [RCV000463645]\|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	Inborn genetic diseases [RCV002453449]\|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	Neuronal ceroid lipofuscinosis [RCV003647744]\|not specified [RCV000124640]	Chr11:1759598 [GRCh38] Chr11:1780828 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.294G>A (p.Thr98=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000706456]\|not provided [RCV001355385]\|not specified [RCV000124641]	Chr11:1759574 [GRCh38] Chr11:1780804 [GRCh37] Chr11:11p15.5	benign\|likely benign\|uncertain significance
NM_001909.5(CTSD):c.353-17C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001512733]\|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	Inborn genetic diseases [RCV002453450]\|Neuronal ceroid lipofuscinosis 10 [RCV000602896]\|Neuronal ceroid lipofuscinosis [RCV001511074]\|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	Neuronal ceroid lipofuscinosis [RCV002055519]\|not specified [RCV000124644]	Chr11:1759098 [GRCh38] Chr11:1780328 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.432G>A (p.Ser144=)	single nucleotide variant	Inborn genetic diseases [RCV002326832]\|Neuronal ceroid lipofuscinosis [RCV000632715]\|not specified [RCV000124645]	Chr11:1759008 [GRCh38] Chr11:1780238 [GRCh37] Chr11:11p15.5	benign\|likely benign\|uncertain significance
NM_001909.5(CTSD):c.471+15G>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002055520]\|not specified [RCV000124647]	Chr11:1758954 [GRCh38] Chr11:1780184 [GRCh37] Chr11:11p15.5	benign\|likely 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	Inborn genetic diseases [RCV002354314]\|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]\|Neuronal ceroid lipofuscinosis [RCV002055521]\|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	CTSD-related disorder [RCV003907574]\|Inborn genetic diseases [RCV002390429]\|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.Phe389_Ile390insMetGlyAspValPhe)	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	Inborn genetic diseases [RCV002433772]\|Neuronal ceroid lipofuscinosis [RCV001448695]\|not provided [RCV000724386]	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	Inborn genetic diseases [RCV002356389]\|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]\|not provided [RCV004700577]	Chr11:1758994 [GRCh38] Chr11:1780224 [GRCh37] Chr11:11p15.5	pathogenic\|likely pathogenic
NM_001909.5(CTSD):c.1196G>A (p.Arg399His)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000190883]\|Neuronal ceroid lipofuscinosis [RCV001852537]	Chr11:1753546 [GRCh38] Chr11:1774776 [GRCh37] Chr11:11p15.5	pathogenic\|uncertain significance
NM_001909.5(CTSD):c.828-14_828-13del	deletion	Neuronal ceroid lipofuscinosis [RCV002054197]\|not specified [RCV000187287]	Chr11:1754151..1754152 [GRCh38] Chr11:1775381..1775382 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.497C>T (p.Ala166Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002513998]\|not specified [RCV000187294]	Chr11:1757531 [GRCh38] Chr11:1778761 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
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	Neuronal ceroid lipofuscinosis [RCV002513999]\|not provided [RCV000187307]	Chr11:1759606 [GRCh38] Chr11:1780836 [GRCh37] Chr11:11p15.5	likely pathogenic\|uncertain significance
NM_001909.5(CTSD):c.376G>A (p.Asp126Asn)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001857609]\|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	Inborn genetic diseases [RCV002317091]\|Neuronal ceroid lipofuscinosis [RCV000687303]\|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	Neuronal ceroid lipofuscinosis [RCV001306052]\|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	Inborn genetic diseases [RCV002433840]\|Neuronal ceroid lipofuscinosis [RCV001207662]\|not provided [RCV000187320]	Chr11:1759569 [GRCh38] Chr11:1780799 [GRCh37] Chr11:11p15.5	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.957G>A (p.Pro319=)	single nucleotide variant	Inborn genetic diseases [RCV002381627]\|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	Neuronal ceroid lipofuscinosis [RCV002054198]\|not specified [RCV000187290]	Chr11:1761485 [GRCh38] Chr11:1782715 [GRCh37] Chr11:11p15.5	benign\|likely benign
NM_001909.5(CTSD):c.154G>A (p.Val52Ile)	single nucleotide variant	Inborn genetic diseases [RCV002314713]\|Neuronal ceroid lipofuscinosis 10 [RCV001108795]\|Neuronal ceroid lipofuscinosis [RCV000862792]\|not provided [RCV001721192]	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	Inborn genetic diseases [RCV002426904]\|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 provided [RCV003324727]	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	Inborn genetic diseases [RCV002362980]\|Neuronal ceroid lipofuscinosis 10 [RCV002500571]\|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	Neuronal ceroid lipofuscinosis [RCV002516988]\|not provided [RCV000187300]	Chr11:1753592 [GRCh38] Chr11:1774822 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1175G>A (p.Arg392His)	single nucleotide variant	Inborn genetic diseases [RCV002637091]\|Neuronal ceroid lipofuscinosis [RCV002612476]	Chr11:1753567 [GRCh38] Chr11:1774797 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser)	single nucleotide variant	Inborn genetic diseases [RCV002345669]\|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	Inborn genetic diseases [RCV002317090]\|Neuronal ceroid lipofuscinosis [RCV001085708]\|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	Neuronal ceroid lipofuscinosis [RCV001852452]\|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	CTSD-related disorder [RCV003967472]\|Inborn genetic diseases [RCV002372146]\|Neuronal ceroid lipofuscinosis 10 [RCV000763725]\|Neuronal ceroid lipofuscinosis [RCV000231366]\|not provided [RCV000727458]	Chr11:1763852 [GRCh38] Chr11:1785082 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV000541141]\|not provided [RCV000187314]\|not specified [RCV003330553]	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	Inborn genetic diseases [RCV002314714]\|Neuronal ceroid lipofuscinosis 10 [RCV003144152]\|Neuronal ceroid lipofuscinosis [RCV000864860]\|not provided [RCV001711476]	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	Breast ductal adenocarcinoma [RCV000207104]	Chr11:870446..1857751 [GRCh37] Chr11:11p15.5	uncertain significance
chr11:1092954..1857751 complex variant	complex	Breast ductal adenocarcinoma [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	Neuronal ceroid lipofuscinosis [RCV001411218]\|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	Inborn genetic diseases [RCV002429217]\|Neuronal ceroid lipofuscinosis 10 [RCV000308097]\|Neuronal ceroid lipofuscinosis [RCV001084655]\|not provided [RCV000725129]	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]\|Neuronal ceroid lipofuscinosis [RCV001517363]\|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	Inborn genetic diseases [RCV002376959]\|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	Inborn genetic diseases [RCV002314044]\|Neuronal ceroid lipofuscinosis 10 [RCV000304091]\|Neuronal ceroid lipofuscinosis [RCV000632764]\|not provided [RCV001711904]	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]\|not provided [RCV004718392]	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]\|Neuronal ceroid lipofuscinosis [RCV003765791]	Chr11:1761426 [GRCh38] Chr11:1782656 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.*67A>G	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV000334480]\|not provided [RCV001618528]\|not specified [RCV004594039]	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]\|Neuronal ceroid lipofuscinosis [RCV001298704]	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	CTSD-related disorder [RCV003940033]\|Neuronal ceroid lipofuscinosis [RCV001434058]\|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	Inborn genetic diseases [RCV002436145]\|Neuronal ceroid lipofuscinosis 10 [RCV000309391]\|Neuronal ceroid lipofuscinosis [RCV000560295]\|not provided [RCV001718613]	Chr11:1753626 [GRCh38] Chr11:1774856 [GRCh37] Chr11:11p15.5	benign\|likely benign\|uncertain significance
NM_001909.5(CTSD):c.-12GCC[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]\|not provided [RCV001594937]	Chr11:1753203 [GRCh38] Chr11:1774433 [GRCh37] Chr11:11p15.5	benign\|likely benign
GRCh37/hg19 11p15.5(chr11:1621232-2228572)	copy number gain	Beckwith-Wiedemann syndrome [RCV002280763]	Chr11:1621232..2228572 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.266C>T (p.Pro89Leu)	single nucleotide variant	not provided [RCV003239080]	Chr11:1759602 [GRCh38] Chr11:1780832 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.411G>A (p.Ser137=)	single nucleotide variant	Inborn genetic diseases [RCV002325137]\|Neuronal ceroid lipofuscinosis [RCV002062096]\|not provided [RCV000595979]	Chr11:1759029 [GRCh38] Chr11:1780259 [GRCh37] Chr11:11p15.5	likely benign\|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	Inborn genetic diseases [RCV003352933]\|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]\|Neuronal ceroid lipofuscinosis [RCV001850607]	Chr11:1753909 [GRCh38] Chr11:1775139 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.63C>T (p.Leu21=)	single nucleotide variant	Inborn genetic diseases [RCV002368027]\|Neuronal ceroid lipofuscinosis [RCV001480819]\|not provided [RCV000596155]	Chr11:1763797 [GRCh38] Chr11:1785027 [GRCh37] Chr11:11p15.5	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.704+7G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002062024]\|not provided [RCV000591071]	Chr11:1757317 [GRCh38] Chr11:1778547 [GRCh37] Chr11:11p15.5	likely benign\|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	Neuronal ceroid lipofuscinosis [RCV002536507]\|not provided [RCV000733905]	Chr11:1753557 [GRCh38] Chr11:1774787 [GRCh37] Chr11:11p15.5	likely benign\|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	Neuronal ceroid lipofuscinosis [RCV003647771]\|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	Neuronal ceroid lipofuscinosis [RCV002064941]\|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	CTSD-related disorder [RCV003970137]\|Inborn genetic diseases [RCV002318407]\|Neuronal ceroid lipofuscinosis [RCV002062325]\|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	Neuronal ceroid lipofuscinosis [RCV002060076]\|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	Neuronal ceroid lipofuscinosis [RCV001445896]\|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	Neuronal ceroid lipofuscinosis [RCV003766241]\|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	Neuronal ceroid lipofuscinosis [RCV002522489]\|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	Neuronal ceroid lipofuscinosis [RCV001861492]\|not specified [RCV000431899]	Chr11:1761485 [GRCh38] Chr11:1782715 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.621C>A (p.Ser207=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001373219]\|not specified [RCV000435141]	Chr11:1757407 [GRCh38] Chr11:1778637 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
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	Inborn genetic diseases [RCV002356523]\|Neuronal ceroid lipofuscinosis [RCV000538080]\|not provided [RCV004705526]\|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	CTSD-related disorder [RCV003957906]\|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	Neuronal ceroid lipofuscinosis [RCV002063638]\|not provided [RCV001721474]	Chr11:1757539 [GRCh38] Chr11:1778769 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.68+10C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001393028]\|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	Inborn genetic diseases [RCV002313124]\|Neuronal ceroid lipofuscinosis [RCV000467737]\|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	Neuronal ceroid lipofuscinosis [RCV002061371]\|not specified [RCV000436388]	Chr11:1754156 [GRCh38] Chr11:1775386 [GRCh37] Chr11:11p15.5	benign\|likely 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	Inborn genetic diseases [RCV002348196]\|Neuronal ceroid lipofuscinosis [RCV001395738]\|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 10 [RCV001335880]\|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	Neuronal ceroid lipofuscinosis [RCV003647768]\|not specified [RCV000430515]	Chr11:1753791 [GRCh38] Chr11:1775021 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del)	microsatellite	Neuronal ceroid lipofuscinosis 10 [RCV000417103]\|Neuronal ceroid lipofuscinosis [RCV002521500]\|not specified [RCV004701461]	Chr11:1757340..1757342 [GRCh38] Chr11:1778570..1778572 [GRCh37] Chr11:11p15.5	likely pathogenic\|uncertain significance
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]\|not provided [RCV002261090]	Chr11:1753534 [GRCh38] Chr11:1774764 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.180A>G (p.Pro60=)	single nucleotide variant	CTSD-related disorder [RCV003972789]\|Inborn genetic diseases [RCV002318558]\|Neuronal ceroid lipofuscinosis [RCV001411224]	Chr11:1761357 [GRCh38] Chr11:1782587 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.408C>G (p.Thr136=)	single nucleotide variant	Inborn genetic diseases [RCV002323798]\|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	likely benign\|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]\|not specified [RCV001844175]	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	Neuronal ceroid lipofuscinosis [RCV002524089]\|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	Neuronal ceroid lipofuscinosis [RCV002527103]\|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	Inborn genetic diseases [RCV002317924]\|Neuronal ceroid lipofuscinosis [RCV000701864]	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	Inborn genetic diseases [RCV002358771]\|Neuronal ceroid lipofuscinosis [RCV000632710]\|Seizure [RCV001255002]\|not provided [RCV001560644]	Chr11:1757436 [GRCh38] Chr11:1778666 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.352+8A>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001505872]	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	Inborn genetic diseases [RCV002360524]\|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	Inborn genetic diseases [RCV002360525]\|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	Inborn genetic diseases [RCV002448945]\|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	CTSD-related disorder [RCV003945587]\|Inborn genetic diseases [RCV002315951]\|Neuronal ceroid lipofuscinosis [RCV000632767]\|not provided [RCV001821790]	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	Neuronal ceroid lipofuscinosis [RCV001401654]\|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	Neuronal ceroid lipofuscinosis [RCV003647788]\|not provided [RCV001698437]	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	Neuronal ceroid lipofuscinosis [RCV001462628]\|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 provided [RCV001697431]	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	Inborn genetic diseases [RCV002528310]\|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	Neuronal ceroid lipofuscinosis [RCV002063236]\|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	Neuronal ceroid lipofuscinosis [RCV002064257]\|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	Neuronal ceroid lipofuscinosis [RCV001861696]\|not provided [RCV000658402]	Chr11:1759658 [GRCh38] Chr11:1780888 [GRCh37] Chr11:11p15.5	likely benign\|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	Inborn genetic diseases [RCV002316092]\|Neuronal ceroid lipofuscinosis [RCV003532251]\|not provided [RCV003236838]	Chr11:1763823 [GRCh38] Chr11:1785053 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.1236C>G (p.Leu412=)	single nucleotide variant	Inborn genetic diseases [RCV002314432]\|Neuronal ceroid lipofuscinosis [RCV003647799]	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	Inborn genetic diseases [RCV002316111]	Chr11:1753897 [GRCh38] Chr11:1775127 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1036G>C (p.Gly346Arg)	single nucleotide variant	Inborn genetic diseases [RCV002316063]	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	Inborn genetic diseases [RCV002313602]\|Neuronal ceroid lipofuscinosis [RCV001348162]\|not provided [RCV001555248]	Chr11:1757523 [GRCh38] Chr11:1778753 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1170C>G (p.Ile390Met)	single nucleotide variant	Inborn genetic diseases [RCV002318303]	Chr11:1753572 [GRCh38] Chr11:1774802 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.431C>G (p.Ser144Trp)	single nucleotide variant	Inborn genetic diseases [RCV002317583]	Chr11:1759009 [GRCh38] Chr11:1780239 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.633G>C (p.Val211=)	single nucleotide variant	Inborn genetic diseases [RCV002318302]	Chr11:1757395 [GRCh38] Chr11:1778625 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.366G>A (p.Lys122=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002569013]\|not provided [RCV001561427]	Chr11:1759074 [GRCh38] Chr11:1780304 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
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	Inborn genetic diseases [RCV002332933]\|Neuronal ceroid lipofuscinosis [RCV000941234]\|not provided [RCV001638019]	Chr11:1758993 [GRCh38] Chr11:1780223 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.*207TC[2]	microsatellite	not provided [RCV001565420]	Chr11:1753291..1753292 [GRCh38] Chr11:1774521..1774522 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.472-199C>T	single nucleotide variant	not provided [RCV001609544]	Chr11:1757755 [GRCh38] Chr11:1778985 [GRCh37] Chr11:11p15.5	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	Silver-Russell syndrome 1 [RCV000767567]	Chr11:193146..12643136 [GRCh37] Chr11:11p15.5-15.3	pathogenic
NM_001909.5(CTSD):c.697C>T (p.Leu233=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001500461]\|not provided [RCV000868179]	Chr11:1757331 [GRCh38] Chr11:1778561 [GRCh37] Chr11:11p15.5	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001909.5(CTSD):c.993G>A (p.Lys331=)	single nucleotide variant	Inborn genetic diseases [RCV002381966]\|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	Inborn genetic diseases [RCV004609551]\|Neuronal ceroid lipofuscinosis [RCV000822425]\|not provided [RCV001538292]	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	Inborn genetic diseases [RCV003344060]\|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	Neuronal ceroid lipofuscinosis [RCV001412267]	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	Inborn genetic diseases [RCV002537195]\|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	likely benign\|uncertain significance
NM_001909.4(CTSD):c.-278G>A	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	Neuronal ceroid lipofuscinosis [RCV003532287]\|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
NM_001909.4(CTSD):c.-312A>G	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	Neuronal ceroid lipofuscinosis [RCV001438941]	Chr11:1757458 [GRCh38] Chr11:1778688 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.4(CTSD):c.-358G>A	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	Neuronal ceroid lipofuscinosis [RCV001452834]\|not provided [RCV004707439]	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	Inborn genetic diseases [RCV002365756]\|Neuronal ceroid lipofuscinosis 10 [RCV003145328]\|Neuronal ceroid lipofuscinosis [RCV001065084]	Chr11:1753510 [GRCh38] Chr11:1774740 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.68+5A>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003107069]	Chr11:1763787 [GRCh38] Chr11:1785017 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.9:g.(?_1774733)_(1785089_?)del	deletion	Neuronal ceroid lipofuscinosis [RCV003107548]	Chr11:1774733..1785089 [GRCh37] Chr11:11p15.5	pathogenic
NC_000011.9:g.(?_1785002)_(1785089_?)del	deletion	Neuronal ceroid lipofuscinosis [RCV003107549]	Chr11:1785002..1785089 [GRCh37] Chr11:11p15.5	pathogenic
NC_000011.9:g.(?_1774733)_(1778806_?)del	deletion	Neuronal ceroid lipofuscinosis [RCV003107550]	Chr11:1774733..1778806 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.9:g.(?_1774733)_(2019125_?)dup	duplication	Neuronal ceroid lipofuscinosis [RCV003107551]	Chr11:1774733..2019125 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.472-99G>A	single nucleotide variant	not provided [RCV001641669]	Chr11:1757655 [GRCh38] Chr11:1778885 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.827+41C>T	single nucleotide variant	not provided [RCV001713506]	Chr11:1754865 [GRCh38] Chr11:1776095 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.228+133C>G	single nucleotide variant	not provided [RCV001722917]	Chr11:1761176 [GRCh38] Chr11:1782406 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.69-277G>A	single nucleotide variant	not provided [RCV001560844]	Chr11:1761745 [GRCh38] Chr11:1782975 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.69-53T>C	single nucleotide variant	not provided [RCV001583880]	Chr11:1761521 [GRCh38] Chr11:1782751 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.558A>G (p.Pro186=)	single nucleotide variant	not provided [RCV001665477]	Chr11:1757470 [GRCh38] Chr11:1778700 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.827+111del	deletion	Neuronal ceroid lipofuscinosis 10 [RCV001544266]\|not provided [RCV001647403]	Chr11:1754795 [GRCh38] Chr11:1776025 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.69-48C>T	single nucleotide variant	not provided [RCV001552402]	Chr11:1761516 [GRCh38] Chr11:1782746 [GRCh37] Chr11:11p15.5	likely benign
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	Neuronal ceroid lipofuscinosis [RCV001468085]	Chr11:1755004 [GRCh38] Chr11:1776234 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.237C>T (p.Tyr79=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001453385]	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]\|not provided [RCV001586062]	Chr11:1753584 [GRCh38] Chr11:1774814 [GRCh37] Chr11:11p15.5	likely benign\|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]\|Neuronal ceroid lipofuscinosis [RCV002069754]	Chr11:1759583 [GRCh38] Chr11:1780813 [GRCh37] Chr11:11p15.5	likely benign\|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]\|Neuronal ceroid lipofuscinosis [RCV001856449]	Chr11:1753520 [GRCh38] Chr11:1774750 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.631G>A (p.Val211Met)	single nucleotide variant	Inborn genetic diseases [RCV002356940]\|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.705-21A>T	single nucleotide variant	not provided [RCV001548250]	Chr11:1755049 [GRCh38] Chr11:1776279 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.704+183G>A	single nucleotide variant	not provided [RCV001563502]	Chr11:1757141 [GRCh38] Chr11:1778371 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.704+58G>A	single nucleotide variant	not provided [RCV001596765]	Chr11:1757266 [GRCh38] Chr11:1778496 [GRCh37] Chr11:11p15.5	benign
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	Inborn genetic diseases [RCV002555883]\|Neuronal ceroid lipofuscinosis [RCV001069325]\|not provided [RCV002221605]	Chr11:1757414 [GRCh38] Chr11:1778644 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.229-87_229-86insCTTCAGGG	insertion	not provided [RCV001685756]	Chr11:1759725..1759726 [GRCh38] Chr11:1780955..1780956 [GRCh37] Chr11:11p15.5	benign
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 10 [RCV002489612]\|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.69-63A>G	single nucleotide variant	not provided [RCV001690426]	Chr11:1761531 [GRCh38] Chr11:1782761 [GRCh37] Chr11:11p15.5	benign
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]\|not provided [RCV001751450]\|not specified [RCV003479300]	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]\|not provided [RCV004693643]	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]\|Neuronal ceroid lipofuscinosis [RCV002558037]	Chr11:1753875 [GRCh38] Chr11:1775105 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV001103555]\|Neuronal ceroid lipofuscinosis [RCV002298872]	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	Silver-Russell syndrome 1 [RCV001263222]	Chr11:210300..8664358 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NC_000011.10:g.1764065del	deletion	not provided [RCV001536681]	Chr11:1764065 [GRCh38] Chr11:1785295 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.827+22C>T	single nucleotide variant	not provided [RCV001581360]	Chr11:1754884 [GRCh38] Chr11:1776114 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.969C>T (p.Gly323=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001306863]	Chr11:1753997 [GRCh38] Chr11:1775227 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.9:g.(?_298501)_(4113028_?)dup	duplication	Early infantile epileptic encephalopathy with suppression bursts [RCV001316682]	Chr11:298501..4113028 [GRCh37] Chr11:11p15.5-15.4	uncertain significance
NC_000011.9:g.(?_612625)_(2193840_?)dup	duplication	Autosomal recessive DOPA responsive dystonia [RCV001301561]\|Immunodeficiency 39 [RCV001033372]	Chr11:612625..2193840 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.586G>A (p.Asp196Asn)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001296306]	Chr11:1757442 [GRCh38] Chr11:1778672 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.843C>T (p.Ser281=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001397429]	Chr11:1754123 [GRCh38] Chr11:1775353 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.828-6C>G	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001371358]	Chr11:1754144 [GRCh38] Chr11:1775374 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.1009G>T (p.Ala337Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001294318]	Chr11:1753865 [GRCh38] Chr11:1775095 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.827+73C>T	single nucleotide variant	not provided [RCV001527889]	Chr11:1754833 [GRCh38] Chr11:1776063 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.704+6C>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001344683]	Chr11:1757318 [GRCh38] Chr11:1778548 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1136G>A (p.Ser379Asn)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001364738]	Chr11:1753606 [GRCh38] Chr11:1774836 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.982C>T (p.Pro328Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001321603]	Chr11:1753892 [GRCh38] Chr11:1775122 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.127G>C (p.Val43Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001344763]	Chr11:1761410 [GRCh38] Chr11:1782640 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.968G>A (p.Gly323Asp)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001317804]	Chr11:1753998 [GRCh38] Chr11:1775228 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.16C>T (p.Leu6Phe)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV004594276]\|Neuronal ceroid lipofuscinosis [RCV001371770]	Chr11:1763844 [GRCh38] Chr11:1785074 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.976A>G (p.Met326Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001345158]	Chr11:1753898 [GRCh38] Chr11:1775128 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1105G>A (p.Gly369Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001322328]	Chr11:1753637 [GRCh38] Chr11:1774867 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1175G>T (p.Arg392Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001317968]	Chr11:1753567 [GRCh38] Chr11:1774797 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.799A>C (p.Lys267Gln)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001361963]	Chr11:1754934 [GRCh38] Chr11:1776164 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.429C>T (p.Gly143=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001364262]	Chr11:1759011 [GRCh38] Chr11:1780241 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.268del (p.Gln90fs)	deletion	Neuronal ceroid lipofuscinosis [RCV001999994]	Chr11:1759600 [GRCh38] Chr11:1780830 [GRCh37] Chr11:11p15.5	pathogenic\|likely pathogenic
NC_000011.9:g.(?_1774733)_(1785089_?)dup	duplication	Neuronal ceroid lipofuscinosis [RCV001308450]	Chr11:1774733..1785089 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.339G>A (p.Leu113=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001366440]	Chr11:1759529 [GRCh38] Chr11:1780759 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.24G>C (p.Pro8=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001396233]	Chr11:1763836 [GRCh38] Chr11:1785066 [GRCh37] Chr11:11p15.5	likely benign
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2	copy number gain	See cases [RCV001310286]	Chr11:10701..5080415 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NM_001909.5(CTSD):c.1231C>T (p.Arg411Cys)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001317334]\|not provided [RCV001760388]	Chr11:1753511 [GRCh38] Chr11:1774741 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.518A>G (p.Lys173Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001365687]	Chr11:1757510 [GRCh38] Chr11:1778740 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1076C>T (p.Ser359Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001365795]	Chr11:1753666 [GRCh38] Chr11:1774896 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1229C>G (p.Ala410Gly)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001315368]	Chr11:1753513 [GRCh38] Chr11:1774743 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.849G>A (p.Leu283=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001479005]	Chr11:1754117 [GRCh38] Chr11:1775347 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1104C>T (p.Ser368=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001457209]	Chr11:1753638 [GRCh38] Chr11:1774868 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.693C>T (p.Phe231=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001500543]	Chr11:1757335 [GRCh38] Chr11:1778565 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.537T>C (p.Phe179=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001431220]	Chr11:1757491 [GRCh38] Chr11:1778721 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.472-11C>G	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001455034]	Chr11:1757567 [GRCh38] Chr11:1778797 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.606C>G (p.Ala202=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001434489]	Chr11:1757422 [GRCh38] Chr11:1778652 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.353-4G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001474492]	Chr11:1759091 [GRCh38] Chr11:1780321 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.675C>T (p.Asp225=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001477934]	Chr11:1757353 [GRCh38] Chr11:1778583 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.444C>T (p.Ser148=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001501274]	Chr11:1758996 [GRCh38] Chr11:1780226 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.183C>T (p.Ala61=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001478516]	Chr11:1761354 [GRCh38] Chr11:1782584 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.19C>T (p.Leu7=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001419396]	Chr11:1763841 [GRCh38] Chr11:1785071 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.195G>T (p.Gly65=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001488659]	Chr11:1761342 [GRCh38] Chr11:1782572 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1071+10C>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001424812]	Chr11:1753793 [GRCh38] Chr11:1775023 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.353-9C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001443864]	Chr11:1759096 [GRCh38] Chr11:1780326 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.639C>T (p.Pro213=)	single nucleotide variant	CTSD-related disorder [RCV003930946]\|Neuronal ceroid lipofuscinosis [RCV001449111]	Chr11:1757389 [GRCh38] Chr11:1778619 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.651C>T (p.Asn217=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001446779]	Chr11:1757377 [GRCh38] Chr11:1778607 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.54C>T (p.Ala18=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001407916]	Chr11:1763806 [GRCh38] Chr11:1785036 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.726G>A (p.Gly242=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001409005]	Chr11:1755007 [GRCh38] Chr11:1776237 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1083C>T (p.Ala361=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001448261]	Chr11:1753659 [GRCh38] Chr11:1774889 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.753C>T (p.Asp251=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001448128]	Chr11:1754980 [GRCh38] Chr11:1776210 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1008C>T (p.Pro336=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001435338]	Chr11:1753866 [GRCh38] Chr11:1775096 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1047G>A (p.Leu349=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001436978]	Chr11:1753827 [GRCh38] Chr11:1775057 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.352+9C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001461185]	Chr11:1759507 [GRCh38] Chr11:1780737 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1072-41G>C	single nucleotide variant	not provided [RCV001581729]	Chr11:1753711 [GRCh38] Chr11:1774941 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.*288G>A	single nucleotide variant	not provided [RCV001582134]	Chr11:1753215 [GRCh38] Chr11:1774445 [GRCh37] Chr11:11p15.5	likely benign
NC_000011.10:g.1764065C>G	single nucleotide variant	not provided [RCV001653196]	Chr11:1764065 [GRCh38] Chr11:1785295 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.771T>C (p.Gly257=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001476554]	Chr11:1754962 [GRCh38] Chr11:1776192 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.918T>C (p.Asp306=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001470334]	Chr11:1754048 [GRCh38] Chr11:1775278 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1170C>T (p.Ile390=)	single nucleotide variant	Inborn genetic diseases [RCV002329514]\|Neuronal ceroid lipofuscinosis [RCV001452388]	Chr11:1753572 [GRCh38] Chr11:1774802 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.973-10C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001497785]	Chr11:1753911 [GRCh38] Chr11:1775141 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1065G>A (p.Thr355=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001478525]	Chr11:1753809 [GRCh38] Chr11:1775039 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1140G>A (p.Gly380=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001477739]	Chr11:1753602 [GRCh38] Chr11:1774832 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.204C>T (p.Pro68=)	single nucleotide variant	CTSD-related disorder [RCV003956062]\|Neuronal ceroid lipofuscinosis [RCV001480472]	Chr11:1761333 [GRCh38] Chr11:1782563 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.654G>A (p.Leu218=)	single nucleotide variant	Inborn genetic diseases [RCV002368501]\|Neuronal ceroid lipofuscinosis [RCV001489161]	Chr11:1757374 [GRCh38] Chr11:1778604 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.904G>T (p.Val302Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002544146]\|not provided [RCV001771580]	Chr11:1754062 [GRCh38] Chr11:1775292 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.705-3T>G	single nucleotide variant	not provided [RCV001760499]	Chr11:1755031 [GRCh38] Chr11:1776261 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.17_30dup (p.Leu11fs)	duplication	Neuronal ceroid lipofuscinosis 10 [RCV001780593]	Chr11:1763829..1763830 [GRCh38] Chr11:1785059..1785060 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.574G>A (p.Ala192Thr)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001914912]	Chr11:1757454 [GRCh38] Chr11:1778684 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.260C>T (p.Thr87Met)	single nucleotide variant	Inborn genetic diseases [RCV003289122]\|Neuronal ceroid lipofuscinosis [RCV001863562]	Chr11:1759608 [GRCh38] Chr11:1780838 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.832G>C (p.Glu278Gln)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001948445]	Chr11:1754134 [GRCh38] Chr11:1775364 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.608A>T (p.Tyr203Phe)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002005316]	Chr11:1757420 [GRCh38] Chr11:1778650 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.22C>T (p.Pro8Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001908044]	Chr11:1763838 [GRCh38] Chr11:1785068 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.972+6C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001892398]	Chr11:1753988 [GRCh38] Chr11:1775218 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5(chr11:1719815-2321109)x3	copy number gain	not provided [RCV001827983]	Chr11:1719815..2321109 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_001909.5(CTSD):c.161A>G (p.Lys54Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001928767]	Chr11:1761376 [GRCh38] Chr11:1782606 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.353-7G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001909402]	Chr11:1759094 [GRCh38] Chr11:1780324 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.692_694del (p.Phe231del)	deletion	Neuronal ceroid lipofuscinosis [RCV002024045]	Chr11:1757334..1757336 [GRCh38] Chr11:1778564..1778566 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	copy number gain	not provided [RCV001825269]	Chr11:230615..5525355 [GRCh37] Chr11:11p15.5-15.4	not provided
NM_001909.5(CTSD):c.228+1G>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002020530]	Chr11:1761308 [GRCh38] Chr11:1782538 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_001909.5(CTSD):c.437G>T (p.Ser146Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001871094]	Chr11:1759003 [GRCh38] Chr11:1780233 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.527G>A (p.Arg176Lys)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001913765]	Chr11:1757501 [GRCh38] Chr11:1778731 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.431C>T (p.Ser144Leu)	single nucleotide variant	Inborn genetic diseases [RCV002331544]\|Neuronal ceroid lipofuscinosis [RCV001970290]	Chr11:1759009 [GRCh38] Chr11:1780239 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.371A>G (p.Asn124Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001889815]	Chr11:1759069 [GRCh38] Chr11:1780299 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.509G>A (p.Gly170Asp)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001870883]	Chr11:1757519 [GRCh38] Chr11:1778749 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.394G>A (p.Val132Met)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001987134]	Chr11:1759046 [GRCh38] Chr11:1780276 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1066C>T (p.Leu356Phe)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001946166]	Chr11:1753808 [GRCh38] Chr11:1775038 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.972+4A>G	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001911871]	Chr11:1753990 [GRCh38] Chr11:1775220 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1147_1148del (p.Trp383fs)	deletion	Neuronal ceroid lipofuscinosis [RCV001881844]	Chr11:1753594..1753595 [GRCh38] Chr11:1774824..1774825 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.313G>A (p.Val105Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002001309]	Chr11:1759555 [GRCh38] Chr11:1780785 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.69-12C>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001886875]	Chr11:1761480 [GRCh38] Chr11:1782710 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.133G>A (p.Asp45Asn)	single nucleotide variant	Inborn genetic diseases [RCV002386783]\|Neuronal ceroid lipofuscinosis [RCV001941489]	Chr11:1761404 [GRCh38] Chr11:1782634 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.949del (p.Ala317fs)	deletion	Neuronal ceroid lipofuscinosis [RCV002000048]	Chr11:1754017 [GRCh38] Chr11:1775247 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.293C>G (p.Thr98Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001884994]	Chr11:1759575 [GRCh38] Chr11:1780805 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.304A>C (p.Asn102His)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001998284]	Chr11:1759564 [GRCh38] Chr11:1780794 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1071+10C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002014024]	Chr11:1753793 [GRCh38] Chr11:1775023 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1146_1147del (p.Trp383fs)	microsatellite	Neuronal ceroid lipofuscinosis [RCV002014199]	Chr11:1753595..1753596 [GRCh38] Chr11:1774825..1774826 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.256G>A (p.Gly86Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001903138]\|not specified [RCV004690163]	Chr11:1759612 [GRCh38] Chr11:1780842 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.244G>T (p.Glu82Ter)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001918223]	Chr11:1759624 [GRCh38] Chr11:1780854 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.1199ACA[2] (p.Asn402del)	microsatellite	Neuronal ceroid lipofuscinosis [RCV001876830]	Chr11:1753535..1753537 [GRCh38] Chr11:1774765..1774767 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.571A>G (p.Ile191Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001954956]	Chr11:1757457 [GRCh38] Chr11:1778687 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.423C>G (p.His141Gln)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001901343]	Chr11:1759017 [GRCh38] Chr11:1780247 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.152C>G (p.Pro51Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001958012]	Chr11:1761385 [GRCh38] Chr11:1782615 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.445G>A (p.Gly149Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001974896]	Chr11:1758995 [GRCh38] Chr11:1780225 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1081G>T (p.Ala361Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001934773]	Chr11:1753661 [GRCh38] Chr11:1774891 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.380A>T (p.Lys127Met)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002012688]	Chr11:1759060 [GRCh38] Chr11:1780290 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.616A>G (p.Ile206Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001959268]	Chr11:1757412 [GRCh38] Chr11:1778642 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.9:g.(?_1774733)_(1778806_?)dup	duplication	Neuronal ceroid lipofuscinosis [RCV001884032]	Chr11:1774733..1778806 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.908del (p.Gly303fs)	deletion	Neuronal ceroid lipofuscinosis [RCV001979146]	Chr11:1754058 [GRCh38] Chr11:1775288 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.228+1G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001980415]	Chr11:1761308 [GRCh38] Chr11:1782538 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_001909.5(CTSD):c.502G>T (p.Ala168Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001954072]	Chr11:1757526 [GRCh38] Chr11:1778756 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.639C>A (p.Pro213=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001904901]	Chr11:1757389 [GRCh38] Chr11:1778619 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.14G>T (p.Ser5Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001924031]	Chr11:1763846 [GRCh38] Chr11:1785076 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.289G>A (p.Asp97Asn)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002019847]	Chr11:1759579 [GRCh38] Chr11:1780809 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1080G>C (p.Gln360His)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001998512]	Chr11:1753662 [GRCh38] Chr11:1774892 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.972+4_972+5dup	duplication	Neuronal ceroid lipofuscinosis [RCV002019756]	Chr11:1753988..1753989 [GRCh38] Chr11:1775218..1775219 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.471+6T>G	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002047388]	Chr11:1758963 [GRCh38] Chr11:1780193 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.824_827+30del	deletion	Neuronal ceroid lipofuscinosis [RCV002032208]	Chr11:1754876..1754909 [GRCh38] Chr11:1776106..1776139 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_001909.5(CTSD):c.182C>T (p.Ala61Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV001897586]	Chr11:1761355 [GRCh38] Chr11:1782585 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.972+9C>G	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002091897]	Chr11:1753985 [GRCh38] Chr11:1775215 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1071+17G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002167634]	Chr11:1753786 [GRCh38] Chr11:1775016 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.69-11G>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002168495]	Chr11:1761479 [GRCh38] Chr11:1782709 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.189C>G (p.Thr63=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002071280]	Chr11:1761348 [GRCh38] Chr11:1782578 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.300C>T (p.Ser100=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002146707]	Chr11:1759568 [GRCh38] Chr11:1780798 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.229-20C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002210078]	Chr11:1759659 [GRCh38] Chr11:1780889 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.472-19A>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002126711]	Chr11:1757575 [GRCh38] Chr11:1778805 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.704+9G>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002207245]	Chr11:1757315 [GRCh38] Chr11:1778545 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.150C>T (p.Gly50=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002165667]	Chr11:1761387 [GRCh38] Chr11:1782617 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.228+14C>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002127558]	Chr11:1761295 [GRCh38] Chr11:1782525 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.353-20C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002088548]	Chr11:1759107 [GRCh38] Chr11:1780337 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.717G>A (p.Ala239=)	single nucleotide variant	Neuronal ceroid lipofuscinosis 10 [RCV002494182]\|Neuronal ceroid lipofuscinosis [RCV002111273]	Chr11:1755016 [GRCh38] Chr11:1776246 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.63C>G (p.Leu21=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002146202]	Chr11:1763797 [GRCh38] Chr11:1785027 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.360C>T (p.His120=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002186016]	Chr11:1759080 [GRCh38] Chr11:1780310 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.666G>A (p.Lys222=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002152951]	Chr11:1757362 [GRCh38] Chr11:1778592 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.827+20G>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002205172]	Chr11:1754886 [GRCh38] Chr11:1776116 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.352+16T>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002189753]	Chr11:1759500 [GRCh38] Chr11:1780730 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.51C>T (p.Pro17=)	single nucleotide variant	Inborn genetic diseases [RCV002337340]\|Neuronal ceroid lipofuscinosis [RCV002116546]	Chr11:1763809 [GRCh38] Chr11:1785039 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.759G>A (p.Lys253=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002169167]	Chr11:1754974 [GRCh38] Chr11:1776204 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.105C>T (p.Thr35=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002084970]	Chr11:1761432 [GRCh38] Chr11:1782662 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.827+19C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002093560]	Chr11:1754887 [GRCh38] Chr11:1776117 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.60G>A (p.Ala20=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002215048]	Chr11:1763800 [GRCh38] Chr11:1785030 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.705-8C>T	single nucleotide variant	CTSD-related disorder [RCV003893180]\|Neuronal ceroid lipofuscinosis [RCV002212189]	Chr11:1755036 [GRCh38] Chr11:1776266 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.972+14G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002196385]	Chr11:1753980 [GRCh38] Chr11:1775210 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1072-11G>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002153785]	Chr11:1753681 [GRCh38] Chr11:1774911 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.471+16G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002189661]	Chr11:1758953 [GRCh38] Chr11:1780183 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.396G>A (p.Val132=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002129043]	Chr11:1759044 [GRCh38] Chr11:1780274 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1072-5C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002115635]	Chr11:1753675 [GRCh38] Chr11:1774905 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.827+14G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002195651]	Chr11:1754892 [GRCh38] Chr11:1776122 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.972+14G>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002207388]	Chr11:1753980 [GRCh38] Chr11:1775210 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.352+10G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002213640]	Chr11:1759506 [GRCh38] Chr11:1780736 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.69-16G>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002203484]	Chr11:1761484 [GRCh38] Chr11:1782714 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1072-9C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002099907]	Chr11:1753679 [GRCh38] Chr11:1774909 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.69-11G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002158051]	Chr11:1761479 [GRCh38] Chr11:1782709 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1072-7G>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002184755]	Chr11:1753677 [GRCh38] Chr11:1774907 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.375C>T (p.Ser125=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002156433]	Chr11:1759065 [GRCh38] Chr11:1780295 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.229-12G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002162025]	Chr11:1759651 [GRCh38] Chr11:1780881 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.704+13G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002162026]	Chr11:1757311 [GRCh38] Chr11:1778541 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.705-63_705-11del	deletion	Neuronal ceroid lipofuscinosis [RCV002157651]	Chr11:1755039..1755091 [GRCh38] Chr11:1776269..1776321 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1017A>G (p.Thr339=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002144185]	Chr11:1753857 [GRCh38] Chr11:1775087 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1209G>A (p.Arg403=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002103599]	Chr11:1753533 [GRCh38] Chr11:1774763 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.827+14_827+15delinsTT	indel	Neuronal ceroid lipofuscinosis [RCV002162023]	Chr11:1754891..1754892 [GRCh38] Chr11:1776121..1776122 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.827+20G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002099189]	Chr11:1754886 [GRCh38] Chr11:1776116 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.318C>T (p.Pro106=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002183118]	Chr11:1759550 [GRCh38] Chr11:1780780 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.621C>T (p.Ser207=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002119787]	Chr11:1757407 [GRCh38] Chr11:1778637 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.831G>A (p.Val277=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002098538]	Chr11:1754135 [GRCh38] Chr11:1775365 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1077G>T (p.Ser359=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002138193]	Chr11:1753665 [GRCh38] Chr11:1774895 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1146C>G (p.Leu382=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002178886]	Chr11:1753596 [GRCh38] Chr11:1774826 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.68+19G>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003112668]	Chr11:1763773 [GRCh38] Chr11:1785003 [GRCh37] Chr11:11p15.5	likely benign
NC_000011.9:g.(?_1278740)_(2906719_?)dup	duplication	Autosomal recessive DOPA responsive dystonia [RCV003113999]	Chr11:1278740..2906719 [GRCh37] Chr11:11p15.5-15.4	uncertain significance
NC_000011.9:g.(?_721044)_(3988932_?)dup	duplication	not provided [RCV003113442]	Chr11:721044..3988932 [GRCh37] Chr11:11p15.5-15.4	uncertain significance
NM_001909.5(CTSD):c.669G>A (p.Leu223=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003121217]	Chr11:1757359 [GRCh38] Chr11:1778589 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.153del (p.Val52fs)	deletion	Neuronal ceroid lipofuscinosis [RCV003118441]	Chr11:1761384 [GRCh38] Chr11:1782614 [GRCh37] Chr11:11p15.5	pathogenic
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	deletion	Thalassemia, gamma-delta-beta [RCV000015529]	Chr11:4999400..5279346 [GRCh38] Chr11:11p15.5-15.4	pathogenic
NM_001909.5(CTSD):c.122G>T (p.Gly41Val)	single nucleotide variant	not provided [RCV002292046]	Chr11:1761415 [GRCh38] Chr11:1782645 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	copy number gain	See cases [RCV002286351]	Chr11:230615..26881146 [GRCh37] Chr11:11p15.5-14.2	pathogenic
NM_001909.5(CTSD):c.493T>A (p.Ser165Thr)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002297288]	Chr11:1757535 [GRCh38] Chr11:1778765 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4	copy number gain	not provided [RCV002473945]	Chr11:461373..2157956 [GRCh37] Chr11:11p15.5	pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	copy number gain	not provided [RCV002472435]	Chr11:230616..8250724 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NM_001909.5(CTSD):c.262C>T (p.Pro88Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002304833]	Chr11:1759606 [GRCh38] Chr11:1780836 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.31C>T (p.Leu11Phe)	single nucleotide variant	Inborn genetic diseases [RCV002443349]	Chr11:1763829 [GRCh38] Chr11:1785059 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.23C>T (p.Pro8Leu)	single nucleotide variant	Inborn genetic diseases [RCV002459648]	Chr11:1763837 [GRCh38] Chr11:1785067 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.110C>T (p.Ser37Leu)	single nucleotide variant	Inborn genetic diseases [RCV002428929]\|Neuronal ceroid lipofuscinosis [RCV003102113]	Chr11:1761427 [GRCh38] Chr11:1782657 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.130G>A (p.Glu44Lys)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002301543]	Chr11:1761407 [GRCh38] Chr11:1782637 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.457C>A (p.Gln153Lys)	single nucleotide variant	Inborn genetic diseases [RCV002342183]	Chr11:1758983 [GRCh38] Chr11:1780213 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.977T>A (p.Met326Lys)	single nucleotide variant	Inborn genetic diseases [RCV002376778]	Chr11:1753897 [GRCh38] Chr11:1775127 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.704+5del	deletion	Inborn genetic diseases [RCV002378285]	Chr11:1757319 [GRCh38] Chr11:1778549 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.378C>A (p.Asp126Glu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002301338]	Chr11:1759062 [GRCh38] Chr11:1780292 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.767A>G (p.Lys256Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002968106]	Chr11:1754966 [GRCh38] Chr11:1776196 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.832G>T (p.Glu278Ter)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003013958]	Chr11:1754134 [GRCh38] Chr11:1775364 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.705-7C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002750917]	Chr11:1755035 [GRCh38] Chr11:1776265 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.670G>A (p.Val224Met)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002816476]	Chr11:1757358 [GRCh38] Chr11:1778588 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.166T>C (p.Ser56Pro)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003013128]	Chr11:1761371 [GRCh38] Chr11:1782601 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.829G>T (p.Val277Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002995894]	Chr11:1754137 [GRCh38] Chr11:1775367 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.725G>T (p.Gly242Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003016773]	Chr11:1755008 [GRCh38] Chr11:1776238 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.353-10C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002730670]	Chr11:1759097 [GRCh38] Chr11:1780327 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.228+19C>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002839142]	Chr11:1761290 [GRCh38] Chr11:1782520 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.82A>G (p.Lys28Glu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002842668]	Chr11:1761455 [GRCh38] Chr11:1782685 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.342C>T (p.Asp114=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002971767]	Chr11:1759526 [GRCh38] Chr11:1780756 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.455G>C (p.Ser152Thr)	single nucleotide variant	Inborn genetic diseases [RCV002858757]	Chr11:1758985 [GRCh38] Chr11:1780215 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1213G>A (p.Gly405Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002726261]	Chr11:1753529 [GRCh38] Chr11:1774759 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.72C>G (p.Ile24Met)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002819493]	Chr11:1761465 [GRCh38] Chr11:1782695 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.704+11G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003034808]	Chr11:1757313 [GRCh38] Chr11:1778543 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1072-17C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003076314]	Chr11:1753687 [GRCh38] Chr11:1774917 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.914_947del (p.Val305fs)	deletion	Neuronal ceroid lipofuscinosis [RCV002819548]	Chr11:1754019..1754052 [GRCh38] Chr11:1775249..1775282 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.115G>A (p.Val39Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002755236]	Chr11:1761422 [GRCh38] Chr11:1782652 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1072-8C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002696173]	Chr11:1753678 [GRCh38] Chr11:1774908 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1068C>G (p.Leu356=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002695560]	Chr11:1753806 [GRCh38] Chr11:1775036 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1119G>T (p.Met373Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002706615]	Chr11:1753623 [GRCh38] Chr11:1774853 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.756dup (p.Lys253fs)	duplication	Neuronal ceroid lipofuscinosis [RCV003039282]	Chr11:1754976..1754977 [GRCh38] Chr11:1776206..1776207 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.97C>T (p.Arg33Cys)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002620441]	Chr11:1761440 [GRCh38] Chr11:1782670 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.472-16_472-15del	microsatellite	Neuronal ceroid lipofuscinosis [RCV002923607]	Chr11:1757571..1757572 [GRCh38] Chr11:1778801..1778802 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.94A>G (p.Ile32Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002621600]	Chr11:1761443 [GRCh38] Chr11:1782673 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.68+18G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002885259]	Chr11:1763774 [GRCh38] Chr11:1785004 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.952G>A (p.Val318Met)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002975750]	Chr11:1754014 [GRCh38] Chr11:1775244 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.8C>G (p.Pro3Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002637046]	Chr11:1763852 [GRCh38] Chr11:1785082 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.132G>C (p.Glu44Asp)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002637139]	Chr11:1761405 [GRCh38] Chr11:1782635 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.347C>T (p.Ala116Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002756799]	Chr11:1759521 [GRCh38] Chr11:1780751 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.558A>C (p.Pro186=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003020197]	Chr11:1757470 [GRCh38] Chr11:1778700 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1071+13_1072-57del	deletion	Neuronal ceroid lipofuscinosis [RCV003053040]	Chr11:1753727..1753790 [GRCh38] Chr11:1774957..1775020 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.918T>G (p.Asp306Glu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003020340]	Chr11:1754048 [GRCh38] Chr11:1775278 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.255C>T (p.Ile85=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002927164]	Chr11:1759613 [GRCh38] Chr11:1780843 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.472G>A (p.Val158Met)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003018358]	Chr11:1757556 [GRCh38] Chr11:1778786 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.508G>A (p.Gly170Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003002565]	Chr11:1757520 [GRCh38] Chr11:1778750 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.169C>T (p.Gln57Ter)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002824407]	Chr11:1761368 [GRCh38] Chr11:1782598 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.407C>T (p.Thr136Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002979663]	Chr11:1759033 [GRCh38] Chr11:1780263 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.627_628del (p.Asn209fs)	deletion	Neuronal ceroid lipofuscinosis [RCV002866228]	Chr11:1757400..1757401 [GRCh38] Chr11:1778630..1778631 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.906G>A (p.Val302=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002847334]	Chr11:1754060 [GRCh38] Chr11:1775290 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.972+12G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002795330]	Chr11:1753982 [GRCh38] Chr11:1775212 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.704+7G>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002978994]	Chr11:1757317 [GRCh38] Chr11:1778547 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.908_913del (p.Gly303_Pro304del)	deletion	Neuronal ceroid lipofuscinosis [RCV002820406]	Chr11:1754053..1754058 [GRCh38] Chr11:1775283..1775288 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.828-16C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003019240]	Chr11:1754154 [GRCh38] Chr11:1775384 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.555G>T (p.Gln185His)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003035790]	Chr11:1757473 [GRCh38] Chr11:1778703 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1012A>C (p.Ile338Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003019257]	Chr11:1753862 [GRCh38] Chr11:1775092 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.863A>G (p.Glu288Gly)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002979340]	Chr11:1754103 [GRCh38] Chr11:1775333 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.845G>T (p.Gly282Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002592456]	Chr11:1754121 [GRCh38] Chr11:1775351 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.671T>A (p.Val224Glu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003054754]	Chr11:1757357 [GRCh38] Chr11:1778587 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.141T>C (p.Ile47=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002796887]	Chr11:1761396 [GRCh38] Chr11:1782626 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.269A>G (p.Gln90Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003037809]	Chr11:1759599 [GRCh38] Chr11:1780829 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.380A>G (p.Lys127Arg)	single nucleotide variant	not provided [RCV002510093]	Chr11:1759060 [GRCh38] Chr11:1780290 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1129C>A (p.Pro377Thr)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002569849]	Chr11:1753613 [GRCh38] Chr11:1774843 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.211C>T (p.Leu71Phe)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003057573]	Chr11:1761326 [GRCh38] Chr11:1782556 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1052dup (p.Glu352fs)	duplication	Neuronal ceroid lipofuscinosis [RCV002805693]	Chr11:1753821..1753822 [GRCh38] Chr11:1775051..1775052 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.573C>T (p.Ile191=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002624195]	Chr11:1757455 [GRCh38] Chr11:1778685 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.98G>A (p.Arg33His)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002918557]	Chr11:1761439 [GRCh38] Chr11:1782669 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.658C>T (p.Gln220Ter)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002829096]	Chr11:1757370 [GRCh38] Chr11:1778600 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.756C>T (p.Ser252=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003059674]	Chr11:1754977 [GRCh38] Chr11:1776207 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.768G>A (p.Lys256=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003056915]	Chr11:1754965 [GRCh38] Chr11:1776195 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.228+17A>G	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003057454]	Chr11:1761292 [GRCh38] Chr11:1782522 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.717G>C (p.Ala239=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002643325]	Chr11:1755016 [GRCh38] Chr11:1776246 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1218C>T (p.Phe406=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003084250]	Chr11:1753524 [GRCh38] Chr11:1774754 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1204A>G (p.Asn402Asp)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002594541]	Chr11:1753538 [GRCh38] Chr11:1774768 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.851C>G (p.Thr284Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002918017]	Chr11:1754115 [GRCh38] Chr11:1775345 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.229-12G>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003082788]	Chr11:1759651 [GRCh38] Chr11:1780881 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.228+7A>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002801523]	Chr11:1761302 [GRCh38] Chr11:1782532 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1125C>T (p.Ile375=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003003343]	Chr11:1753617 [GRCh38] Chr11:1774847 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.84G>A (p.Lys28=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003081848]	Chr11:1761453 [GRCh38] Chr11:1782683 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.550A>T (p.Lys184Ter)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003022249]	Chr11:1757478 [GRCh38] Chr11:1778708 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.384C>T (p.Ser128=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002623925]	Chr11:1759056 [GRCh38] Chr11:1780286 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.908_916del (p.Gly303_Val305del)	deletion	Neuronal ceroid lipofuscinosis [RCV003042540]	Chr11:1754050..1754058 [GRCh38] Chr11:1775280..1775288 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.496G>A (p.Ala166Thr)	single nucleotide variant	Inborn genetic diseases [RCV002850486]	Chr11:1757532 [GRCh38] Chr11:1778762 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.833_835dup (p.Glu278_Val279insGlu)	duplication	Neuronal ceroid lipofuscinosis [RCV002982987]	Chr11:1754130..1754131 [GRCh38] Chr11:1775360..1775361 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.972+7G>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002875910]	Chr11:1753987 [GRCh38] Chr11:1775217 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.834G>C (p.Glu278Asp)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003039829]	Chr11:1754132 [GRCh38] Chr11:1775362 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.115G>C (p.Val39Leu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002850932]	Chr11:1761422 [GRCh38] Chr11:1782652 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.689_691del (p.Ser230del)	deletion	Neuronal ceroid lipofuscinosis [RCV002573735]	Chr11:1757337..1757339 [GRCh38] Chr11:1778567..1778569 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.733C>T (p.Leu245=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003024427]	Chr11:1755000 [GRCh38] Chr11:1776230 [GRCh37] Chr11:11p15.5	likely benign\|uncertain significance
NM_001909.5(CTSD):c.827+19del	deletion	Neuronal ceroid lipofuscinosis [RCV003024300]	Chr11:1754887 [GRCh38] Chr11:1776117 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.780C>G (p.Ser260=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002830102]	Chr11:1754953 [GRCh38] Chr11:1776183 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.472-17T>G	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002894316]	Chr11:1757573 [GRCh38] Chr11:1778803 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.828-8C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002765417]	Chr11:1754146 [GRCh38] Chr11:1775376 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.657G>T (p.Met219Ile)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003040191]	Chr11:1757371 [GRCh38] Chr11:1778601 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.173C>A (p.Ala58Glu)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003048109]	Chr11:1761364 [GRCh38] Chr11:1782594 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.828-7C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003049421]	Chr11:1754145 [GRCh38] Chr11:1775375 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.68+19G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002650151]	Chr11:1763773 [GRCh38] Chr11:1785003 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.343A>G (p.Ile115Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002966627]	Chr11:1759525 [GRCh38] Chr11:1780755 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.474G>C (p.Val158=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002834842]	Chr11:1757554 [GRCh38] Chr11:1778784 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.952del (p.Val318fs)	deletion	Neuronal ceroid lipofuscinosis [RCV003065238]	Chr11:1754014 [GRCh38] Chr11:1775244 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.1071+16G>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003046793]	Chr11:1753787 [GRCh38] Chr11:1775017 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.276C>T (p.Phe92=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003030355]	Chr11:1759592 [GRCh38] Chr11:1780822 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.68+1G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002895724]	Chr11:1763791 [GRCh38] Chr11:1785021 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_001909.5(CTSD):c.1174C>T (p.Arg392Cys)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003063368]	Chr11:1753568 [GRCh38] Chr11:1774798 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1072-15C>G	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002600805]	Chr11:1753685 [GRCh38] Chr11:1774915 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.708C>T (p.Asp236=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003088283]	Chr11:1755025 [GRCh38] Chr11:1776255 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1182C>T (p.Tyr394=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003026897]	Chr11:1753560 [GRCh38] Chr11:1774790 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1111A>G (p.Met371Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003088139]	Chr11:1753631 [GRCh38] Chr11:1774861 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.355A>G (p.Ile119Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002857384]	Chr11:1759085 [GRCh38] Chr11:1780315 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.970G>A (p.Glu324Lys)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002628823]	Chr11:1753996 [GRCh38] Chr11:1775226 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1161C>T (p.Asp387=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003088774]	Chr11:1753581 [GRCh38] Chr11:1774811 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1206C>T (p.Asn402=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003089496]	Chr11:1753536 [GRCh38] Chr11:1774766 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.827+5G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002631017]	Chr11:1754901 [GRCh38] Chr11:1776131 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.1072-1G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002650169]	Chr11:1753671 [GRCh38] Chr11:1774901 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.972+14G>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002938572]	Chr11:1753980 [GRCh38] Chr11:1775210 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1A>G (p.Met1Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003009126]	Chr11:1763859 [GRCh38] Chr11:1785089 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.887C>G (p.Thr296Arg)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003027283]	Chr11:1754079 [GRCh38] Chr11:1775309 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.106A>G (p.Met36Val)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003031615]	Chr11:1761431 [GRCh38] Chr11:1782661 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.468_469del (p.Ser157fs)	microsatellite	Neuronal ceroid lipofuscinosis [RCV003086274]	Chr11:1758971..1758972 [GRCh38] Chr11:1780201..1780202 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.828-3C>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002807042]	Chr11:1754141 [GRCh38] Chr11:1775371 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.204C>G (p.Pro68=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002721044]	Chr11:1761333 [GRCh38] Chr11:1782563 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.972+18G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002857472]	Chr11:1753976 [GRCh38] Chr11:1775206 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.507G>C (p.Leu169=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002810296]	Chr11:1757521 [GRCh38] Chr11:1778751 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.827+17G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003065549]	Chr11:1754889 [GRCh38] Chr11:1776119 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1064C>T (p.Thr355Met)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003067649]\|not specified [RCV004690359]	Chr11:1753810 [GRCh38] Chr11:1775040 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.645C>T (p.Phe215=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002635658]	Chr11:1757383 [GRCh38] Chr11:1778613 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.984_985del (p.Pro328_Cys329insTer)	deletion	Neuronal ceroid lipofuscinosis [RCV003066081]	Chr11:1753889..1753890 [GRCh38] Chr11:1775119..1775120 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.1142del (p.Pro381fs)	deletion	Neuronal ceroid lipofuscinosis [RCV003052231]	Chr11:1753600 [GRCh38] Chr11:1774830 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.999C>T (p.Ser333=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003093760]	Chr11:1753875 [GRCh38] Chr11:1775105 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.973-7C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002609842]	Chr11:1753908 [GRCh38] Chr11:1775138 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1171G>A (p.Gly391Ser)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003092923]	Chr11:1753571 [GRCh38] Chr11:1774801 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.8C>A (p.Pro3His)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002605426]	Chr11:1763852 [GRCh38] Chr11:1785082 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.828-20C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003066809]	Chr11:1754158 [GRCh38] Chr11:1775388 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1234C>T (p.Leu412Phe)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002604778]	Chr11:1753508 [GRCh38] Chr11:1774738 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.828-19_828-18delinsCT	indel	Neuronal ceroid lipofuscinosis [RCV002612837]	Chr11:1754156..1754157 [GRCh38] Chr11:1775386..1775387 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.229-18del	deletion	Neuronal ceroid lipofuscinosis [RCV003071954]	Chr11:1759657 [GRCh38] Chr11:1780887 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.68+16C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003070291]	Chr11:1763776 [GRCh38] Chr11:1785006 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.634C>T (p.Leu212=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002602988]	Chr11:1757394 [GRCh38] Chr11:1778624 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1011G>A (p.Ala337=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003070991]	Chr11:1753863 [GRCh38] Chr11:1775093 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.797G>A (p.Arg266His)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV002612589]	Chr11:1754936 [GRCh38] Chr11:1776166 [GRCh37] Chr11:11p15.5	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	copy number gain	not provided [RCV003484828]	Chr11:192764..3362853 [GRCh37] Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	copy number gain	Russell-Silver syndrome [RCV003444025]	Chr11:230615..8821443 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NM_001909.5(CTSD):c.1239G>A (p.Ter413=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648095]	Chr11:1753503 [GRCh38] Chr11:1774733 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.353-14G>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648298]	Chr11:1759101 [GRCh38] Chr11:1780331 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1017A>T (p.Thr339=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648210]	Chr11:1753857 [GRCh38] Chr11:1775087 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.675_704+1dup	duplication	Neuronal ceroid lipofuscinosis [RCV003648245]	Chr11:1757322..1757323 [GRCh38] Chr11:1778552..1778553 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_001909.5(CTSD):c.696C>T (p.Tyr232=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648312]	Chr11:1757332 [GRCh38] Chr11:1778562 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.894T>G (p.Thr298=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648315]	Chr11:1754072 [GRCh38] Chr11:1775302 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.973-12G>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648382]	Chr11:1753913 [GRCh38] Chr11:1775143 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.973-15T>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648412]	Chr11:1753916 [GRCh38] Chr11:1775146 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.51del (p.Ala18fs)	deletion	Neuronal ceroid lipofuscinosis [RCV003648528]	Chr11:1763809 [GRCh38] Chr11:1785039 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.816C>T (p.Val272=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648455]	Chr11:1754917 [GRCh38] Chr11:1776147 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.973-13T>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648678]	Chr11:1753914 [GRCh38] Chr11:1775144 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.114G>A (p.Glu38=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648588]	Chr11:1761423 [GRCh38] Chr11:1782653 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1071+17G>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648696]	Chr11:1753786 [GRCh38] Chr11:1775016 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.307C>T (p.Leu103=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648850]	Chr11:1759561 [GRCh38] Chr11:1780791 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.973-18T>G	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648886]	Chr11:1753919 [GRCh38] Chr11:1775149 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.353-8C>G	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648896]	Chr11:1759095 [GRCh38] Chr11:1780325 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.804C>T (p.Ala268=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003647559]	Chr11:1754929 [GRCh38] Chr11:1776159 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1072-12G>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003649057]	Chr11:1753682 [GRCh38] Chr11:1774912 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.69-17del	deletion	Neuronal ceroid lipofuscinosis [RCV003648574]	Chr11:1761485 [GRCh38] Chr11:1782715 [GRCh37] Chr11:11p15.5	benign
NM_001909.5(CTSD):c.330C>T (p.Cys110=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648583]	Chr11:1759538 [GRCh38] Chr11:1780768 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.717G>T (p.Ala239=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003647740]	Chr11:1755016 [GRCh38] Chr11:1776246 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.585C>T (p.Phe195=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648838]	Chr11:1757443 [GRCh38] Chr11:1778673 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.873G>A (p.Glu291=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648749]	Chr11:1754093 [GRCh38] Chr11:1775323 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1056G>A (p.Glu352=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648878]	Chr11:1753818 [GRCh38] Chr11:1775048 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.12C>T (p.Ser4=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648799]	Chr11:1763848 [GRCh38] Chr11:1785078 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.69-1G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648820]	Chr11:1761469 [GRCh38] Chr11:1782699 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_001909.5(CTSD):c.909C>T (p.Gly303=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003649025]	Chr11:1754057 [GRCh38] Chr11:1775287 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.69-15A>G	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648987]	Chr11:1761483 [GRCh38] Chr11:1782713 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.828-9T>G	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003647534]	Chr11:1754147 [GRCh38] Chr11:1775377 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.21G>C (p.Leu7=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648362]	Chr11:1763839 [GRCh38] Chr11:1785069 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.69-19C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003649130]	Chr11:1761487 [GRCh38] Chr11:1782717 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.27C>T (p.Leu9=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003649049]	Chr11:1763833 [GRCh38] Chr11:1785063 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.972+15C>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648473]	Chr11:1753979 [GRCh38] Chr11:1775209 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1128G>C (p.Pro376=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648496]	Chr11:1753614 [GRCh38] Chr11:1774844 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.795C>T (p.Thr265=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648321]	Chr11:1754938 [GRCh38] Chr11:1776168 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1164C>T (p.Val388=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648381]	Chr11:1753578 [GRCh38] Chr11:1774808 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.704+10T>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648383]	Chr11:1757314 [GRCh38] Chr11:1778544 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.168C>G (p.Ser56=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648417]	Chr11:1761369 [GRCh38] Chr11:1782599 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.165C>T (p.Tyr55=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648515]	Chr11:1761372 [GRCh38] Chr11:1782602 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.704+9G>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003649089]	Chr11:1757315 [GRCh38] Chr11:1778545 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1072-11G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003825888]	Chr11:1753681 [GRCh38] Chr11:1774911 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.507G>A (p.Leu169=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003647328]	Chr11:1757521 [GRCh38] Chr11:1778751 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.229-8C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003878297]	Chr11:1759647 [GRCh38] Chr11:1780877 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.879T>A (p.Ile293=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648665]	Chr11:1754087 [GRCh38] Chr11:1775317 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1188G>A (p.Val396=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648765]	Chr11:1753554 [GRCh38] Chr11:1774784 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.972+10_972+15del	deletion	Neuronal ceroid lipofuscinosis [RCV003648887]	Chr11:1753979..1753984 [GRCh38] Chr11:1775209..1775214 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.594C>T (p.Ile198=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648899]	Chr11:1757434 [GRCh38] Chr11:1778664 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.353-15T>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648266]	Chr11:1759102 [GRCh38] Chr11:1780332 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.177G>A (p.Val59=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003647730]	Chr11:1761360 [GRCh38] Chr11:1782590 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.498C>T (p.Ala166=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648682]	Chr11:1757530 [GRCh38] Chr11:1778760 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.309G>T (p.Leu103=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648752]	Chr11:1759559 [GRCh38] Chr11:1780789 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.267C>T (p.Pro89=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648102]	Chr11:1759601 [GRCh38] Chr11:1780831 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.972+1G>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648606]	Chr11:1753993 [GRCh38] Chr11:1775223 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_001909.5(CTSD):c.705-15C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003876831]	Chr11:1755043 [GRCh38] Chr11:1776273 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.642C>T (p.Val214=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648213]	Chr11:1757386 [GRCh38] Chr11:1778616 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.390C>T (p.Thr130=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648448]	Chr11:1759050 [GRCh38] Chr11:1780280 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.718C>T (p.Gln240Ter)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648452]	Chr11:1755015 [GRCh38] Chr11:1776245 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.472-6C>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648224]	Chr11:1757562 [GRCh38] Chr11:1778792 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1194C>T (p.Asp398=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648236]	Chr11:1753548 [GRCh38] Chr11:1774778 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.972+15C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003647660]	Chr11:1753979 [GRCh38] Chr11:1775209 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.243G>C (p.Gly81=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003647668]	Chr11:1759625 [GRCh38] Chr11:1780855 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.741G>C (p.Leu247=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648498]	Chr11:1754992 [GRCh38] Chr11:1776222 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.704+19T>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003647710]	Chr11:1757305 [GRCh38] Chr11:1778535 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.207G>A (p.Glu69=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648541]	Chr11:1761330 [GRCh38] Chr11:1782560 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.704+17C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003648369]	Chr11:1757307 [GRCh38] Chr11:1778537 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.853del (p.Leu285fs)	deletion	Neuronal ceroid lipofuscinosis [RCV003532380]	Chr11:1754113 [GRCh38] Chr11:1775343 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.972+10_972+15dup	duplication	Neuronal ceroid lipofuscinosis [RCV003534057]	Chr11:1753978..1753979 [GRCh38] Chr11:1775208..1775209 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1050C>T (p.Ser350=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003534050]	Chr11:1753824 [GRCh38] Chr11:1775054 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.775C>T (p.Leu259=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003532411]	Chr11:1754958 [GRCh38] Chr11:1776188 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1164C>G (p.Val388=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003532414]	Chr11:1753578 [GRCh38] Chr11:1774808 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.420C>T (p.Ile140=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003532440]	Chr11:1759020 [GRCh38] Chr11:1780250 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.827+17G>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003532469]	Chr11:1754889 [GRCh38] Chr11:1776119 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.192G>A (p.Glu64=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003534160]	Chr11:1761345 [GRCh38] Chr11:1782575 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.728del (p.Gly243fs)	deletion	Neuronal ceroid lipofuscinosis [RCV003532501]	Chr11:1755005 [GRCh38] Chr11:1776235 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.654G>T (p.Leu218=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003534198]	Chr11:1757374 [GRCh38] Chr11:1778604 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.973-9C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003532495]	Chr11:1753910 [GRCh38] Chr11:1775140 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.996G>T (p.Val332=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003534294]	Chr11:1753878 [GRCh38] Chr11:1775108 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.495A>G (p.Ser165=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531493]	Chr11:1757533 [GRCh38] Chr11:1778763 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.264C>T (p.Pro88=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531687]	Chr11:1759604 [GRCh38] Chr11:1780834 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.228+8T>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531701]	Chr11:1761301 [GRCh38] Chr11:1782531 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.352+12A>G	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531736]	Chr11:1759504 [GRCh38] Chr11:1780734 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.828-2A>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531821]	Chr11:1754140 [GRCh38] Chr11:1775370 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_001909.5(CTSD):c.117T>C (p.Val39=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003851123]	Chr11:1761420 [GRCh38] Chr11:1782650 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1011G>T (p.Ala337=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531863]	Chr11:1753863 [GRCh38] Chr11:1775093 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.471+8C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003533969]	Chr11:1758961 [GRCh38] Chr11:1780191 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.69-18C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003533988]	Chr11:1761486 [GRCh38] Chr11:1782716 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.885C>T (p.Asp295=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003533959]	Chr11:1754081 [GRCh38] Chr11:1775311 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.190G>T (p.Glu64Ter)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003533987]	Chr11:1761347 [GRCh38] Chr11:1782577 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.471+17C>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531563]	Chr11:1758952 [GRCh38] Chr11:1780182 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1071+15G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003534258]	Chr11:1753788 [GRCh38] Chr11:1775018 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.972+13G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531833]	Chr11:1753981 [GRCh38] Chr11:1775211 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.973-20A>G	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531849]	Chr11:1753921 [GRCh38] Chr11:1775151 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.267C>A (p.Pro89=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531412]	Chr11:1759601 [GRCh38] Chr11:1780831 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.468G>A (p.Val156=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003534108]	Chr11:1758972 [GRCh38] Chr11:1780202 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1236C>T (p.Leu412=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531437]	Chr11:1753506 [GRCh38] Chr11:1774736 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1072-18C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531478]	Chr11:1753688 [GRCh38] Chr11:1774918 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1002C>T (p.Thr334=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531558]	Chr11:1753872 [GRCh38] Chr11:1775102 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.489G>T (p.Ala163=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531717]	Chr11:1757539 [GRCh38] Chr11:1778769 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.369C>T (p.Tyr123=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531743]	Chr11:1759071 [GRCh38] Chr11:1780301 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.973-12G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531810]	Chr11:1753913 [GRCh38] Chr11:1775143 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.465dup (p.Val156fs)	duplication	Neuronal ceroid lipofuscinosis [RCV003531842]	Chr11:1758974..1758975 [GRCh38] Chr11:1780204..1780205 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.1176C>A (p.Arg392=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531864]	Chr11:1753566 [GRCh38] Chr11:1774796 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.704+1G>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003533943]	Chr11:1757323 [GRCh38] Chr11:1778553 [GRCh37] Chr11:11p15.5	likely pathogenic
NM_001909.5(CTSD):c.828-15C>G	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003534264]	Chr11:1754153 [GRCh38] Chr11:1775383 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.69-14C>T	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531499]	Chr11:1761482 [GRCh38] Chr11:1782712 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1185T>C (p.Thr395=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003533900]	Chr11:1753557 [GRCh38] Chr11:1774787 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.888A>C (p.Thr296=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531417]	Chr11:1754078 [GRCh38] Chr11:1775308 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1077G>C (p.Ser359=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003534061]	Chr11:1753665 [GRCh38] Chr11:1774895 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.15C>T (p.Ser5=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531559]	Chr11:1763845 [GRCh38] Chr11:1785075 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.942C>T (p.Ala314=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531602]	Chr11:1754024 [GRCh38] Chr11:1775254 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.261G>C (p.Thr87=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003531875]	Chr11:1759607 [GRCh38] Chr11:1780837 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.457C>T (p.Gln153Ter)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003841168]	Chr11:1758983 [GRCh38] Chr11:1780213 [GRCh37] Chr11:11p15.5	pathogenic
NM_001909.5(CTSD):c.1071+16G>A	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003858259]	Chr11:1753787 [GRCh38] Chr11:1775017 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.672G>A (p.Val224=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003867327]	Chr11:1757356 [GRCh38] Chr11:1778586 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.120G>A (p.Gly40=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003871951]	Chr11:1761417 [GRCh38] Chr11:1782647 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.68+11_68+12del	deletion	Neuronal ceroid lipofuscinosis [RCV003872176]	Chr11:1763780..1763781 [GRCh38] Chr11:1785010..1785011 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.472-20G>C	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003847919]	Chr11:1757576 [GRCh38] Chr11:1778806 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.1029A>G (p.Gly343=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003858175]	Chr11:1753845 [GRCh38] Chr11:1775075 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.162G>A (p.Lys54=)	single nucleotide variant	Neuronal ceroid lipofuscinosis [RCV003864098]	Chr11:1761375 [GRCh38] Chr11:1782605 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.574G>T (p.Ala192Ser)	single nucleotide variant	Inborn genetic diseases [RCV004375043]	Chr11:1757454 [GRCh38] Chr11:1778684 [GRCh37] Chr11:11p15.5	uncertain significance
NM_001909.5(CTSD):c.897C>A (p.Ser299=)	single nucleotide variant	CTSD-related disorder [RCV003901777]	Chr11:1754069 [GRCh38] Chr11:1775299 [GRCh37] Chr11:11p15.5	likely benign
NM_001909.5(CTSD):c.713A>T (p.Asp238Val)	single nucleotide variant	Inborn genetic diseases [RCV004375044]	Chr11:1755020 [GRCh38] Chr11:1776250 [GRCh37] Chr11:11p15.5	uncertain significance
NC_000011.9:g.(?_216698)_(2906719_?)dup	duplication	Beckwith-Wiedemann syndrome [RCV004580105]	Chr11:216698..2906719 [GRCh37] Chr11:11p15.5-15.4	uncertain significance

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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407190181	GWAS839157_H	aspartate aminotransferase measurement QTL GWAS839157 (human)		8e-11	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	11	1762527	1762528	Human
407249891	GWAS898867_H	aspartate aminotransferase measurement QTL GWAS898867 (human)		9e-13	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	11	1758975	1758976	Human
407296576	GWAS945552_H	aspartate aminotransferase measurement QTL GWAS945552 (human)		6e-14	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	11	1758975	1758976	Human
406948425	GWAS597401_H	cathepsin D measurement QTL GWAS597401 (human)		3e-105	cathepsin D measurement		11	1762527	1762528	Human
407202988	GWAS851964_H	blood protein measurement QTL GWAS851964 (human)		7e-22	blood protein measurement	blood protein measurement (CMO:0000028)	11	1755807	1755808	Human
407202092	GWAS851068_H	blood protein measurement QTL GWAS851068 (human)		5e-604	blood protein measurement	blood protein measurement (CMO:0000028)	11	1762527	1762528	Human
407398914	GWAS1047890_H	cathepsin D measurement QTL GWAS1047890 (human)		1e-50	cathepsin D measurement		11	1761176	1761177	Human
407228302	GWAS877278_H	bone density QTL GWAS877278 (human)		1e-300	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	11	1762523	1762524	Human
1558691	SCL8_H	Serum cholesterol level QTL 8 (human)	1.2		Lipid level	HDL cholesterol	11	1	5227071	Human
407203133	GWAS852109_H	blood protein measurement QTL GWAS852109 (human)		3e-46	blood protein measurement	blood protein measurement (CMO:0000028)	11	1762527	1762528	Human
407289375	GWAS938351_H	cathepsin D measurement QTL GWAS938351 (human)		2e-23	cathepsin D measurement		11	1763070	1763071	Human
407211774	GWAS860750_H	cathepsin D measurement QTL GWAS860750 (human)		7e-224	cathepsin D measurement		11	1762527	1762528	Human
407275353	GWAS924329_H	blood protein measurement QTL GWAS924329 (human)		8e-26	blood protein measurement	blood protein measurement (CMO:0000028)	11	1762527	1762528	Human

Markers in Region

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

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4973	1726	2351	6	624	1951	465	2269	7305	6472	53	3734	1	852	1744	1616	175	1

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
	CP068267	(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

Ensembl Acc Id:

ENST00000236671 ⟹ ENSP00000236671

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	1,752,755 - 1,763,927 (-)	Ensembl

Ensembl Acc Id:

ENST00000367196 ⟹ ENSP00000356164

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	1,752,755 - 1,762,403 (-)	Ensembl

Ensembl Acc Id:

ENST00000429746 ⟹ ENSP00000402586

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	1,752,755 - 1,764,573 (-)	Ensembl

Ensembl Acc Id:

ENST00000433655 ⟹ ENSP00000404902

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	1,752,775 - 1,763,930 (-)	Ensembl

Ensembl Acc Id:

ENST00000438213 ⟹ ENSP00000415036

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	1,753,383 - 1,763,927 (-)	Ensembl

Ensembl Acc Id:

ENST00000497544

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	1,753,652 - 1,755,348 (-)	Ensembl

Ensembl Acc Id:

ENST00000636571 ⟹ ENSP00000490770

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	1,752,999 - 1,763,927 (-)	Ensembl

Ensembl Acc Id:

ENST00000636843 ⟹ ENSP00000490897

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	1,753,313 - 1,763,948 (-)	Ensembl

Ensembl Acc Id:

ENST00000637158

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	1,753,140 - 1,758,033 (-)	Ensembl

Ensembl Acc Id:

ENST00000637381 ⟹ ENSP00000490316

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	1,752,762 - 1,763,964 (-)	Ensembl

Ensembl Acc Id:

ENST00000637387 ⟹ ENSP00000490598

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	1,753,206 - 1,763,941 (-)	Ensembl

Ensembl Acc Id:

ENST00000637815 ⟹ ENSP00000490344

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	1,752,752 - 1,763,906 (-)	Ensembl

Ensembl Acc Id:

ENST00000637915 ⟹ ENSP00000490471

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	1,752,788 - 1,763,896 (-)	Ensembl

Ensembl Acc Id:

ENST00000637937

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	1,752,788 - 1,755,247 (-)	Ensembl

Ensembl Acc Id:

ENST00000677300

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	1,757,342 - 1,760,510 (-)	Ensembl

Ensembl Acc Id:

ENST00000678991 ⟹ ENSP00000503019

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 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
T2T-CHM13v2.0	11	1,838,305 - 1,849,587 (-)	NCBI

Sequence:

show sequence

AACTGCGGCGTCATCCCGGCTATAAGCGCACGGCCTCGGCGACCCTCTCCGACCCGGCCGCCGC
CGCCATGCAGCCCTCCAGCCTTCTGCCGCTCGCCCTCTGCCTGCTGGCTGCACCCGCCTCCGCG
CTCGTCAGGATCCCGCTGCACAAGTTCACGTCCATCCGCCGGACCATGTCGGAGGTTGGGGGCT
CTGTGGAGGACCTGATTGCCAAAGGCCCCGTCTCAAAGTACTCCCAGGCGGTGCCAGCCGTGAC
CGAGGGGCCCATTCCCGAGGTGCTCAAGAACTACATGGACGCCCAGTACTACGGGGAGATTGGC
ATCGGGACGCCCCCCCAGTGCTTCACAGTCGTCTTCGACACGGGCTCCTCCAACCTGTGGGTCC
CCTCCATCCACTGCAAACTGCTGGACATCGCTTGCTGGATCCACCACAAGTACAACAGCGACAA
GTCCAGCACCTACGTGAAGAATGGTACCTCGTTTGACATCCACTATGGCTCGGGCAGCCTCTCC
GGGTACCTGAGCCAGGACACTGTGTCGGTGCCCTGCCAGTCAGCGTCGTCAGCCTCTGCCCTGG
GCGGTGTCAAAGTGGAGAGGCAGGTCTTTGGGGAGGCCACCAAGCAGCCAGGCATCACCTTCAT
CGCAGCCAAGTTCGATGGCATCCTGGGCATGGCCTACCCCCGCATCTCCGTCAACAACGTGCTG
CCCGTCTTCGACAACCTGATGCAGCAGAAGCTGGTGGACCAGAACATCTTCTCCTTCTACCTGA
GCAGGGACCCAGATGCGCAGCCTGGGGGTGAGCTGATGCTGGGTGGCACAGACTCCAAGTATTA
CAAGGGTTCTCTGTCCTACCTGAATGTCACCCGCAAGGCCTACTGGCAGGTCCACCTGGACCAG
GTGGAGGTGGCCAGCGGGCTGACCCTGTGCAAGGAGGGCTGTGAGGCCATTGTGGACACAGGCA
CTTCCCTCATGGTGGGCCCGGTGGATGAGGTGCGCGAGCTGCAGAAGGCCATCGGGGCCGTGCC
GCTGATTCAGGGCGAGTACATGATCCCCTGTGAGAAGGTGTCCACCCTGCCCGCGATCACACTG
AAGCTGGGAGGCAAAGGCTACAAGCTGTCCCCAGAGGACTACACGCTCAAGGTGTCGCAGGCCG
GGAAGACCCTCTGCCTGAGCGGCTTCATGGGCATGGACATCCCGCCACCCAGCGGGCCACTCTG
GATCCTGGGCGACGTCTTCATCGGCCGCTACTACACTGTGTTTGACCGTGACAACAACAGGGTG
GGCTTCGCCGAGGCTGCCCGCCTCTAGTTCCCAAGGCGTCCGCGCGCCAGCACAGAAACAGAGG
AGAGTCCCAGAGCAGGAGGCCCCTGGCCCAGCGGCCCCTCCCACACACACCCACACACTCGCCC
GCCCACTGTCCTGGGCGCCCTGGAAGCCGGCGGCCCAAGCCCGACTTGCTGTTTTGTTCTGTGG
TTTTCCCCTCCCTGGGTTCAGAAATGCTGCCTGCCTGTCTGTCTCTCCATCTGTTTGGTGGGGG
TAGAGCTGATCCAGAGCACAGATCTGTTTCGTGCATTGGAAGACCCCACCCAAGCTTGGCAGCC
GAGCTCGTGTATCCTGGGGCTCCCTTCATCTCCAGGGAGTCCCCTCCCCGGCCCTACCAGCGCC
CGCTGGGCTGAGCCCCTACCCCACACCAGGCCGTCCTCCCGGGCCCTCCCTTGGAAACCTGCCC
TGCCTGAGGGCCCCTCTGCCCAGCTTGGGCCCAGCTGGGCTCTGCCACCCTACCTGTTCAGTGT
CCCGGGCCCGTTGAGGATGAGGCCGCTAGAGGCCTGAGGATGAGCTGGAAGGAGTGAGAGGGGA
CAAAACCCACCTTGTTGGAGCCTGCAGGGTGGTGCTGGGACTGAGCCAGTCCCAGGGGCATGTA
TTGGCCTGGAGGTGGGGTTGGGATTGGGGGCTGGTGCCAGCCTTCCTCTGCAGCTGACCTCTGT
TGTCCTCCCCTTGGGCGGCTGAGAGCCCCAGCTGACATGGAAATACAGTTGTTGGCCTCCGGCC
TCCCCTC

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
Ensembl Protein	ENSP00000236671
	ENSP00000236671.2
	ENSP00000356164.4
	ENSP00000402586.2
	ENSP00000404902.1
	ENSP00000415036.2
	ENSP00000490344.1
	ENSP00000490471.1
	ENSP00000490598.1
	ENSP00000490770.1
	ENSP00000490897.1
	ENSP00000503019.1
GenBank Protein	P07339	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001900 ⟸ NM_001909
- Peptide Label:	preproprotein
- UniProtKB:	Q6IB57 (UniProtKB/Swiss-Prot), P07339 (UniProtKB/Swiss-Prot), V9HWI3 (UniProtKB/TrEMBL), A0A1B0GWE8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVPAVTE GPIPEVLKNYMDAQYYGEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKS STYVKNGTSFDIHYGSGSLSGYLSQDTVSVPCQSASSASALGGVKVERQVFGEATKQPGITFIA AKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQPGGELMLGGTDSKYYK GSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSLMVGPVDEVRELQKAIGAVPL IQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDIPPPSGPLWI LGDVFIGRYYTVFDRDNNRVGFAEAARL hide sequence

Ensembl Acc Id:

ENSP00000415036 ⟸ ENST00000438213

Ensembl Acc Id:

ENSP00000490770 ⟸ ENST00000636571

Ensembl Acc Id:

ENSP00000490897 ⟸ ENST00000636843

Ensembl Acc Id:

ENSP00000490316 ⟸ ENST00000637381

Ensembl Acc Id:

ENSP00000490598 ⟸ ENST00000637387

Ensembl Acc Id:

ENSP00000490471 ⟸ ENST00000637915

Ensembl Acc Id:

ENSP00000490344 ⟸ ENST00000637815

Ensembl Acc Id:

ENSP00000402586 ⟸ ENST00000429746

Ensembl Acc Id:

ENSP00000356164 ⟸ ENST00000367196

Ensembl Acc Id:

ENSP00000236671 ⟸ ENST00000236671

Ensembl Acc Id:

ENSP00000404902 ⟸ ENST00000433655

Ensembl Acc Id:

ENSP00000503019 ⟸ ENST00000678991

Protein Domains

Peptidase A1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P07339-F1-model_v2	AlphaFold	P07339	1-412	view protein structure

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

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 Transcript	ENST00000236671	ENTREZGENE
	ENST00000236671.7	UniProtKB/Swiss-Prot
	ENST00000367196.4	UniProtKB/TrEMBL
	ENST00000429746.2	UniProtKB/TrEMBL
	ENST00000433655.6	UniProtKB/TrEMBL
	ENST00000438213.6	UniProtKB/TrEMBL
	ENST00000636571.1	UniProtKB/TrEMBL
	ENST00000636843.1	UniProtKB/TrEMBL
	ENST00000637387.1	UniProtKB/TrEMBL
	ENST00000637815.2	UniProtKB/TrEMBL
	ENST00000637915.1	UniProtKB/TrEMBL
	ENST00000678991.1	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
PANTHER	CATHEPSIN D	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR47966	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
	A0A1B0GV23_HUMAN	UniProtKB/TrEMBL
	A0A1B0GVD5_HUMAN	UniProtKB/TrEMBL
	A0A1B0GVP3_HUMAN	UniProtKB/TrEMBL
	A0A1B0GW44_HUMAN	UniProtKB/TrEMBL
	A0A1B0GWE8	ENTREZGENE, UniProtKB/TrEMBL
	A0A7I2V2N3_HUMAN	UniProtKB/TrEMBL
	C9JH19_HUMAN	UniProtKB/TrEMBL
	CATD_HUMAN	UniProtKB/Swiss-Prot
	F8W787_HUMAN	UniProtKB/TrEMBL
	F8WD96_HUMAN	UniProtKB/TrEMBL
	P07339	ENTREZGENE
	Q6IB57	ENTREZGENE
	V9HWI3	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	H7C1V0	UniProtKB/TrEMBL
	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 - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar