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Gene: DKC1 (dyskerin pseudouridine synthase 1) Homo sapiens

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Symbol:

DKC1

Name:

dyskerin pseudouridine synthase 1

RGD ID:

1349510

HGNC Page

HGNC:2890

Description:

Enables box H/ACA snoRNA binding activity; pseudouridine synthase activity; and telomerase RNA binding activity. Contributes to telomerase activity. Involved in nucleobase-containing compound biosynthetic process; positive regulation of telomerase RNA localization to Cajal body; and telomerase RNA stabilization. Acts upstream of or within scaRNA localization to Cajal body. Located in fibrillar center and nucleoplasm. Part of box H/ACA snoRNP complex and box H/ACA telomerase RNP complex. Implicated in X-linked dyskeratosis congenita; aplastic anemia; and dyskeratosis congenita.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CBF5; CBF5 homolog; cbf5p homolog; CHINE1; DKC; DKCX; dyskeratosis congenita 1, dyskerin; FLJ97620; H/ACA ribonucleoprotein complex subunit 4; H/ACA ribonucleoprotein complex subunit DKC1; NAP57; NOLA4; nopp140-associated protein of 57 kDa; nucleolar protein family A member 4; nucleolar protein NAP57; snoRNP protein DKC1; XAP101

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):	Dkc1 (dyskeratosis congenita 1, dyskerin)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Rattus norvegicus (Norway rat):	Dkc1 (dyskerin pseudouridine synthase 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, Panther
Chinchilla lanigera (long-tailed chinchilla):	Dkc1 (dyskerin pseudouridine synthase 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	DKC1 (dyskerin pseudouridine synthase 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	DKC1 (dyskerin pseudouridine synthase 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Dkc1 (dyskerin pseudouridine synthase 1)	NCBI	Ortholog
Sus scrofa (pig):	DKC1 (dyskerin pseudouridine synthase 1)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	DKC1 (dyskerin pseudouridine synthase 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Dkc1 (dyskerin pseudouridine synthase 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Dkc1 (dyskerin pseudouridine synthase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Dkc1 (dyskeratosis congenita 1, dyskerin)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	dkc1 (dyskeratosis congenita 1, dyskerin)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	CBF5	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	K01G5.5	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Nop60B	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	dkc1.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	dkc1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

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	X	154,762,864 - 154,777,689 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	154,762,742 - 154,777,689 (+)	Ensembl			hg38	GRCh38
GRCh37	X	153,991,139 - 154,005,964 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	153,644,344 - 153,659,154 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	X	153,554,853 - 153,569,664	NCBI
Celera	X	154,149,596 - 154,164,527 (+)	NCBI		Celera
Cytogenetic Map	X	q28	NCBI
HuRef	X	142,534,593 - 142,549,324 (+)	NCBI		HuRef
CHM1_1	X	153,902,723 - 153,917,646 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	152,999,274 - 153,014,101 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

adrenoleukodystrophy (IAGP)

anemia (ISO)

aplastic anemia (IAGP)

autistic disorder (IAGP)

autosomal hemophilia A (IAGP)

B-Cell Chronic Lymphocytic Leukemia (IEP)

Barth syndrome (IAGP)

Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 (IAGP)

cerebellar hypoplasia (IAGP)

cerebral creatine deficiency syndrome 1 (IAGP)

disease of cellular proliferation (ISO)

dyskeratosis congenita (EXP,IAGP,ISO,ISS)

Emery-Dreifuss muscular dystrophy (IAGP)

factor VIII deficiency (IAGP)

favism (IAGP)

Hoyeraal Hreidarsson Syndrome (IAGP)

immunodeficiency 33 (IAGP)

lymphopenia (ISO)

paraplegia (IAGP)

periventricular nodular heterotopia (IAGP)

primary immunodeficiency disease (IAGP)

pulmonary fibrosis (IAGP)

Splenomegaly (IAGP)

X-linked dyskeratosis congenita (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(-)-alpha-phellandrene (EXP)

1-chloro-2,4-dinitrobenzene (EXP)

17beta-estradiol (EXP)

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

2,3,7,8-Tetrachlorodibenzofuran (ISO)

2,4,6-tribromophenol (EXP)

2,4-dinitrotoluene (ISO)

2-bromohexadecanoic acid (EXP)

2-butoxyethanol (ISO)

2-nitrofluorene (ISO)

3,3',5,5'-tetrabromobisphenol A (EXP)

3-chloropropane-1,2-diol (ISO)

4,4'-sulfonyldiphenol (ISO)

4-(ethoxymethylene)-2-phenyloxazol-5-one (EXP)

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

4-amino-2,6-dinitrotoluene (ISO)

afimoxifene (EXP)

aflatoxin B1 (EXP,ISO)

alpha-phellandrene (EXP)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

bicalutamide (EXP)

bis(2-chloroethyl) sulfide (EXP)

bisphenol A (EXP,ISO)

bisphenol AF (EXP)

Bisphenol B (EXP)

bisphenol F (ISO)

C60 fullerene (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

chloropicrin (EXP)

choline (ISO)

cisplatin (ISO)

cobalt dichloride (EXP)

coumestrol (EXP)

cyclosporin A (EXP)

decabromodiphenyl ether (EXP)

deoxynivalenol (EXP,ISO)

diethylstilbestrol (ISO)

disodium selenite (EXP)

Enterolactone (EXP)

epoxiconazole (ISO)

ethanol (ISO)

ethyl methanesulfonate (EXP)

eugenol (EXP)

finasteride (ISO)

flutamide (ISO)

folic acid (ISO)

folpet (ISO)

FR900359 (EXP)

glyphosate (ISO)

hexadecanoic acid (EXP)

hydrogen peroxide (EXP)

ivermectin (EXP)

L-methionine (ISO)

lead(0) (EXP)

menadione (EXP)

methapyrilene (ISO)

methoxychlor (ISO)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP)

methylparaben (EXP)

methylseleninic acid (EXP)

N,N-diethyl-m-toluamide (ISO)

N-nitrosodimethylamine (ISO)

nickel sulfate (EXP)

Nivalenol (EXP)

oxaliplatin (ISO)

paraquat (ISO)

pentachlorophenol (ISO)

perfluorononanoic acid (EXP)

perfluorooctanoic acid (ISO)

permethrin (ISO)

phenobarbital (ISO)

piperonyl butoxide (ISO)

pirinixic acid (ISO)

resveratrol (EXP)

rotenone (ISO)

SB 431542 (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

Soman (ISO)

succimer (ISO)

temozolomide (EXP)

tetrachloromethane (ISO)

thiram (EXP)

titanium dioxide (ISO)

topotecan (ISO)

Tributyltin oxide (ISO)

triphenyl phosphate (EXP)

triptonide (ISO)

tungsten (ISO)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

box H/ACA sno(s)RNA 3'-end processing (IBA)

box H/ACA sno(s)RNA metabolic process (IEA)

enzyme-directed rRNA pseudouridine synthesis (IMP)

mRNA pseudouridine synthesis (IBA)

positive regulation of cell population proliferation (ISO)

positive regulation of telomerase RNA localization to Cajal body (IMP)

positive regulation of telomere maintenance via telomerase (IDA,IEA,IMP)

protein localization to Cajal body (HMP)

pseudouridine synthesis (IEA)

regulation of telomerase RNA localization to Cajal body (IMP)

ribosome biogenesis (IEA)

RNA modification (IEA)

RNA processing (IEA,TAS)

rRNA processing (IEA,TAS)

rRNA pseudouridine synthesis (IBA,IEA)

scaRNA localization to Cajal body (IMP)

snoRNA guided rRNA pseudouridine synthesis (ISO)

snRNA pseudouridine synthesis (IBA)

telomerase holoenzyme complex assembly (IEA)

telomerase RNA stabilization (IMP)

telomere maintenance via telomerase (IDA,IMP,NAS,TAS)

Cellular Component

box H/ACA scaRNP complex (TAS)

box H/ACA snoRNP complex (IBA,IDA,ISO,TAS)

box H/ACA telomerase RNP complex (IDA,TAS)

Cajal body (IEA,ISO)

cytoplasm (IEA)

fibrillar center (IDA)

nucleolus (IEA,TAS)

nucleoplasm (IDA,ISO,TAS)

nucleus (IDA,IEA)

ribonucleoprotein complex (IEA)

telomerase holoenzyme complex (IDA,NAS,TAS)

Molecular Function

box H/ACA snoRNA binding (IPI)

isomerase activity (IEA)

protein binding (IPI,ISO)

pseudouridine synthase activity (IBA,IEA,IMP)

RNA binding (HDA,IEA,IPI,TAS)

telomerase activity (IDA)

telomerase RNA binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

ribosome biogenesis pathway (IEA,TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal blistering of the skin (IAGP)

Abnormal eyebrow morphology (IAGP)

Abnormal eyelash morphology (IAGP)

Abnormal fingernail morphology (IAGP)

Abnormal hemoglobin (IAGP)

Abnormal leukocyte morphology (IAGP)

Abnormal lymphocyte count (IAGP)

Abnormal morphology of female internal genitalia (IAGP)

Abnormal nail morphology (IAGP)

Abnormal platelet count (IAGP)

Abnormal testis morphology (IAGP)

Abnormal total neutrophil count (IAGP)

Abnormality of coagulation (IAGP)

Abnormality of neutrophils (IAGP)

Abnormality of the dentition (IAGP)

Abnormality of the pharynx (IAGP)

Acute myeloid leukemia (IAGP)

Alopecia (IAGP)

Anal mucosal leukoplakia (IAGP)

Anemia (IAGP)

Anorectal anomaly (IAGP)

Aplasia/Hypoplasia of the skin (IAGP)

Aplastic/hypoplastic toenail (IAGP)

Ataxia (IAGP)

Autism (IAGP)

Avascular necrosis (IAGP)

Blepharitis (IAGP)

Bone marrow hypocellularity (IAGP)

Carcinoma (IAGP)

Carious teeth (IAGP)

Cataract (IAGP)

Cellular immunodeficiency (IAGP)

Cerebellar atrophy (IAGP)

Cerebellar hypoplasia (IAGP)

Cerebral calcification (IAGP)

Cerebral cortical atrophy (IAGP)

Childhood onset (IAGP)

Cirrhosis (IAGP)

Coarse metaphyseal trabecularization (IAGP)

Conjunctivitis (IAGP)

Cryptorchidism (IAGP)

Death in childhood (IAGP)

Decreased circulating immunoglobulin concentration (IAGP)

Decreased head circumference (IAGP)

Decreased pineal volume (IAGP)

Decreased testicular size (IAGP)

Decreased total leukocyte count (IAGP)

Dermal atrophy (IAGP)

Diabetes mellitus (IAGP)

Displacement of the urethral meatus (IAGP)

Enterocolitis (IAGP)

Epiphora (IAGP)

Esophageal stenosis (IAGP)

Esophageal stricture (IAGP)

Excessive wrinkled skin (IAGP)

Failure to thrive (IAGP)

Focal segmental glomerulosclerosis (IAGP)

Generalized hyperpigmentation (IAGP)

Generalized hypopigmentation of hair (IAGP)

Glaucoma (IAGP)

Global developmental delay (IAGP)

Growth delay (IAGP)

Hearing impairment (IAGP)

Hepatic failure (IAGP)

Hepatomegaly (IAGP)

Hodgkin lymphoma (IAGP)

Horseshoe kidney (IAGP)

Hyperhidrosis (IAGP)

Hyperkeratosis (IAGP)

Hypermelanotic macule (IAGP)

Hyperpigmentation of the skin (IAGP)

Hypertonia (IAGP)

Hypodontia (IAGP)

Hypopigmented skin patches (IAGP)

Hypoplasia of the maxilla (IAGP)

Hyporeflexia (IAGP)

Hypospadias (IAGP)

Immunodeficiency (IAGP)

Infantile onset (IAGP)

Intellectual disability (IAGP)

Intrauterine growth retardation (IAGP)

Juvenile onset (IAGP)

Lymphoma (IAGP)

Macule (IAGP)

Malabsorption (IAGP)

Microcephaly (IAGP)

Micrognathia (IAGP)

Microphthalmia (IAGP)

Mild proteinuria (IAGP)

Myelodysplasia (IAGP)

Nail dystrophy (IAGP)

Nail pterygium (IAGP)

Neoplasm (IAGP)

Neoplasm of the pancreas (IAGP)

Nephrotic syndrome (IAGP)

Optic atrophy (IAGP)

Oral leukoplakia (IAGP)

Oropharyngeal squamous cell carcinoma (IAGP)

Osteoporosis (IAGP)

Palmoplantar keratoderma (IAGP)

Pancytopenia (IAGP)

Periodontitis (IAGP)

Phimosis (IAGP)

Premature graying of hair (IAGP)

Premature loss of teeth (IAGP)

Pterygium (IAGP)

Pulmonary fibrosis (IAGP)

Recurrent fractures (IAGP)

Recurrent respiratory infections (IAGP)

Restrictive ventilatory defect (IAGP)

Reticulated skin pigmentation (IAGP)

Ridged nail (IAGP)

Scoliosis (IAGP)

Short stature (IAGP)

Skin ulcer (IAGP)

Skin vesicle (IAGP)

Sparse eyelashes (IAGP)

Sparse hair (IAGP)

Sparse scalp hair (IAGP)

Spastic paraplegia (IAGP)

Splenomegaly (IAGP)

Split nail (IAGP)

Squamous cell carcinoma (IAGP)

Strabismus (IAGP)

Taurodontia (IAGP)

Telangiectasia of the skin (IAGP)

Thrombocytopenia (IAGP)

Tracheoesophageal fistula (IAGP)

Urethral stenosis (IAGP)

Ventriculomegaly (IAGP)

White hair (IAGP)

X-linked dominant inheritance (IAGP)

X-linked recessive inheritance (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.	Alder JK, etal., Hum Mutat. 2013 Nov;34(11):1481-5. doi: 10.1002/humu.22397. Epub 2013 Sep 11.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.	Heiss NS, etal., Nat Genet 1998 May;19(1):32-8.
4.	X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.	Knight SW, etal., Am J Hum Genet. 1999 Jul;65(1):50-8.
5.	Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.	Knight SW, etal., Br J Haematol. 1999 Nov;107(2):335-9.
6.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
7.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
8.	Changes in the expression of telomere maintenance genes suggest global telomere dysfunction in B-chronic lymphocytic leukemia.	Poncet D, etal., Blood. 2008 Feb 15;111(4):2388-91. Epub 2007 Dec 12.
9.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
11.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12.	Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.	Ruggero D, etal., Science. 2003 Jan 10;299(5604):259-62.
13.	Mutational analysis of telomere complex genes in Indian population with acquired aplastic anemia.	Singh I, etal., Leuk Res. 2015 Sep 7. pii: S0145-2126(15)30370-2. doi: 10.1016/j.leukres.2015.08.018.
14.	The box C/D and H/ACA snoRNPs: key players in the modification, processing and the dynamic folding of ribosomal RNA.	Watkins NJ and Bohnsack MT, Wiley Interdiscip Rev RNA. 2012 May-Jun;3(3):397-414. doi: 10.1002/wrna.117. Epub 2011 Nov 7.

Additional References at PubMed

PMID:7607282	PMID:8125298	PMID:8889548	PMID:9042917	PMID:9888995	PMID:10217077	PMID:10438713	PMID:10556300	PMID:10591218	PMID:10700698	PMID:10903840	PMID:11074001
PMID:11076863	PMID:11256614	PMID:11379875	PMID:11790298	PMID:12135483	PMID:12137939	PMID:12429849	PMID:12437656	PMID:12477932	PMID:12736709	PMID:15044956	PMID:15060173
PMID:15189140	PMID:15302935	PMID:15489334	PMID:15489336	PMID:15613268	PMID:15635413	PMID:15814878	PMID:16083285	PMID:16169070	PMID:16344560	PMID:16381901	PMID:16565220
PMID:16601202	PMID:16618814	PMID:16690864	PMID:16964243	PMID:17015423	PMID:17081983	PMID:17361185	PMID:17395830	PMID:17417794	PMID:17620599	PMID:17625368	PMID:17822678
PMID:18005359	PMID:18029348	PMID:18057229	PMID:18082603	PMID:18358808	PMID:18607840	PMID:18627054	PMID:18802941	PMID:18936525	PMID:19095616	PMID:19179534	PMID:19383767
PMID:19460752	PMID:19615732	PMID:19734544	PMID:19755982	PMID:19835419	PMID:19879169	PMID:20008900	PMID:20301408	PMID:20301779	PMID:20332657	PMID:20351177	PMID:20360068
PMID:20501855	PMID:20811636	PMID:21081503	PMID:21145461	PMID:21182205	PMID:21415081	PMID:21480387	PMID:21601430	PMID:21674675	PMID:21736606	PMID:21820037	PMID:21846770
PMID:21873635	PMID:21900206	PMID:21931644	PMID:22058290	PMID:22085966	PMID:22099312	PMID:22113938	PMID:22527283	PMID:22658674	PMID:22664374	PMID:22912812	PMID:22939629
PMID:22990118	PMID:23246433	PMID:23335200	PMID:23348390	PMID:23660516	PMID:23685356	PMID:23752268	PMID:24219293	PMID:24303026	PMID:24366813	PMID:24457600	PMID:24504062
PMID:24550385	PMID:24591637	PMID:24690175	PMID:24711643	PMID:24778252	PMID:24914498	PMID:24965446	PMID:24981860	PMID:25219674	PMID:25367684	PMID:25416818	PMID:25467444
PMID:25499969	PMID:25515538	PMID:25540932	PMID:25553844	PMID:25659154	PMID:25665578	PMID:25693804	PMID:25825154	PMID:25906515	PMID:25921289	PMID:25948554	PMID:26186194
PMID:26301749	PMID:26344197	PMID:26366868	PMID:26399832	PMID:26472758	PMID:26496610	PMID:26571381	PMID:26673895	PMID:26725010	PMID:26777405	PMID:26949739	PMID:26950371
PMID:27018886	PMID:27197171	PMID:27248496	PMID:27570172	PMID:28186131	PMID:28514442	PMID:28515276	PMID:28524877	PMID:28561026	PMID:28695742	PMID:28718761	PMID:28973437
PMID:28977666	PMID:28986522	PMID:29044188	PMID:29128334	PMID:29132127	PMID:29178645	PMID:29229926	PMID:29298432	PMID:29467282	PMID:29478914	PMID:29511261	PMID:29568061
PMID:29672884	PMID:29695869	PMID:29801475	PMID:29802200	PMID:29901172	PMID:29911972	PMID:30021884	PMID:30185935	PMID:30209976	PMID:30415952	PMID:30462309	PMID:30463901
PMID:30554943	PMID:30804502	PMID:30833792	PMID:30847721	PMID:30884312	PMID:30931479	PMID:30940648	PMID:30948266	PMID:31180492	PMID:31239290	PMID:31343991	PMID:31365120
PMID:31412274	PMID:31413099	PMID:31586073	PMID:31822558	PMID:31857720	PMID:32203420	PMID:32416067	PMID:32538781	PMID:32554502	PMID:32694731	PMID:32707033	PMID:32744500
PMID:32780723	PMID:32807901	PMID:32868896	PMID:32877691	PMID:32910990	PMID:33003434	PMID:33022573	PMID:33087562	PMID:33226137	PMID:33239621	PMID:33301849	PMID:33461333
PMID:33536335	PMID:33644029	PMID:33658012	PMID:33742100	PMID:33760211	PMID:33852194	PMID:33916271	PMID:33961781	PMID:34026451	PMID:34079125	PMID:34244565	PMID:34316707
PMID:34349018	PMID:34373451	PMID:34479523	PMID:34578187	PMID:34591612	PMID:34662580	PMID:34699328	PMID:34709727	PMID:34728620	PMID:34767673	PMID:34841685	PMID:34901782
PMID:35013218	PMID:35227662	PMID:35256949	PMID:35271311	PMID:35509820	PMID:35575683	PMID:35652658	PMID:35831314	PMID:35850772	PMID:35915203	PMID:35944360	PMID:35989368
PMID:35996163	PMID:36018809	PMID:36057605	PMID:36199071	PMID:36215168	PMID:36232890	PMID:36244648	PMID:36373674	PMID:36424410	PMID:36490346	PMID:36574265	PMID:36779763
PMID:36876511	PMID:36912080	PMID:37314180	PMID:37314216	PMID:37317656	PMID:37488742	PMID:37616343	PMID:37684150	PMID:37689310	PMID:37761906	PMID:37827155	PMID:38082360
PMID:38113892	PMID:38172120	PMID:38376551	PMID:38697112	PMID:39103487	PMID:39250314	PMID:39501047	PMID:39522233	PMID:39617063

Genomics

Comparative Map Data

DKC1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	154,762,864 - 154,777,689 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	154,762,742 - 154,777,689 (+)	Ensembl			hg38	GRCh38
GRCh37	X	153,991,139 - 154,005,964 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	153,644,344 - 153,659,154 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	X	153,554,853 - 153,569,664	NCBI
Celera	X	154,149,596 - 154,164,527 (+)	NCBI		Celera
Cytogenetic Map	X	q28	NCBI
HuRef	X	142,534,593 - 142,549,324 (+)	NCBI		HuRef
CHM1_1	X	153,902,723 - 153,917,646 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	152,999,274 - 153,014,101 (+)	NCBI		T2T-CHM13v2.0

Dkc1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	74,139,460 - 74,153,382 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	74,139,460 - 74,153,383 (+)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	X	75,095,854 - 75,109,776 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	75,095,854 - 75,109,777 (+)	Ensembl			mm10	GRCm38
MGSCv37	X	72,341,193 - 72,355,115 (+)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
Celera	X	66,500,704 - 66,514,600 (+)	NCBI		Celera
Cytogenetic Map	X	A7.3	NCBI
cM Map	X	38.15	NCBI

Dkc1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	157,751,651 - 157,757,796 (+)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	Y	380,743 - 385,405 (+)	Ensembl				GRCr8
GRCr8 Ensembl	X	157,753,280 - 157,758,123 (+)	Ensembl				GRCr8
UTH_Rnor_SHR_Utx	Y	2,037,843 - 2,053,706 (-)	NCBI	UTH_Rnor_SHR_Utx	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	158,304,360 - 158,320,224 (+)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	155,976,554 - 155,992,422 (+)	NCBI	UTH_Rnor_WKY_Bbb_1.0	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	155,844,914 - 155,862,363 (-)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	155,844,857 - 155,862,475 (-)	Ensembl			rn6	Rnor6.0
Rnor_5.0	1	151,564,354 - 151,578,635 (-)	NCBI	Rnor_5.0	Rnor_5.0	rn5
Celera	1	135,295,501 - 135,310,658 (-)	ENTREZGENE		Celera
Cytogenetic Map	X	;Y	NCBI

Dkc1
(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_004955594	847,815 - 856,510 (-)	Ensembl
ChiLan1.0	NW_004955594	846,997 - 857,255 (-)	NCBI	ChiLan1.0	ChiLan1.0

DKC1
(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	X	154,742,073 - 154,756,376 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	154,745,681 - 154,759,888 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	144,243,493 - 144,257,419 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	154,084,412 - 154,098,475 (+)	NCBI	PanPan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	154,084,412 - 154,098,475 (+)	Ensembl			panPan2	panpan1.1

DKC1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	122,838,787 - 122,850,870 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	122,838,645 - 122,850,884 (+)	Ensembl			canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	107,832,003 - 107,844,116 (+)	NCBI	Dog10K_Boxer_Tasha	Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	125,964,983 - 125,977,098 (+)	NCBI	ROS_Cfam_1.0	ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	125,965,006 - 125,977,095 (+)	Ensembl				ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	121,712,979 - 121,725,092 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	124,236,220 - 124,248,333 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	123,929,308 - 123,941,420 (+)	NCBI	UU_Cfam_GSD_1.0	UU_Cfam_GSD_1.0

Dkc1
(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	X	119,776,274 - 119,785,590 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936927	134,875 - 145,268 (+)	Ensembl		SpeTri2.0 Ensembl
SpeTri2.0	NW_004936927	134,770 - 144,057 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

DKC1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	125,218,923 - 125,229,525 (+)	Ensembl			susScr11	Sscrofa11.1
Sscrofa11.1	X	125,218,928 - 125,228,881 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	143,254,306 - 143,264,249 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

DKC1
(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	X	129,015,883 - 129,029,741 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	129,016,046 - 129,030,001 (+)	Ensembl		ChlSab1.1 Ensembl	chlSab2	Vervet-AGM
Vero_WHO_p1.0	NW_023666065	66,994,088 - 67,007,910 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Dkc1
(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_004624963	469,408 - 479,207 (-)	Ensembl		HetGla_female_1.0 Ensembl	hetGla2	HetGla_female_1.0 Ensembl
HetGla 1.0	NW_004624963	468,673 - 479,317 (-)	NCBI	HetGla 1.0	HetGla 1.0	hetGla2

Variants

Variants in DKC1
454 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001363.5(DKC1):c.20T>C (p.Ile7Thr)	single nucleotide variant	Dyskeratosis congenita [RCV001078718]\|not provided [RCV000733974]	ChrX:154764902 [GRCh38] ChrX:153993177 [GRCh37] ChrX:Xq28	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032184]	ChrX:154773169 [GRCh38] ChrX:154001444 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032189]	ChrX:154774639 [GRCh38] ChrX:154002914 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.1150C>T (p.Pro384Ser)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032185]	ChrX:154773244 [GRCh38] ChrX:154001519 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032186]	ChrX:154773245 [GRCh38] ChrX:154001520 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032187]	ChrX:154774602 [GRCh38] ChrX:154002877 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)	single nucleotide variant	Dyskeratosis congenita [RCV001048156]\|Dyskeratosis congenita, X-linked [RCV000032192]\|not provided [RCV000255428]	ChrX:154774669 [GRCh38] ChrX:154002944 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic\|uncertain significance\|not provided
NM_001363.5(DKC1):c.127A>G (p.Lys43Glu)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032194]	ChrX:154765486 [GRCh38] ChrX:153993761 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.-142C>G	single nucleotide variant	DKC1-related disorder [RCV004018697]\|Dyskeratosis congenita [RCV001442049]\|Dyskeratosis congenita, X-linked [RCV000032195]\|not provided [RCV000434441]\|not specified [RCV000503491]	ChrX:154762824 [GRCh38] ChrX:153991099 [GRCh37] ChrX:Xq28	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001363.5(DKC1):c.200C>T (p.Thr67Ile)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032198]	ChrX:154765935 [GRCh38] ChrX:153994210 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.204C>A (p.His68Gln)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032199]	ChrX:154765939 [GRCh38] ChrX:153994214 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.29C>T (p.Pro10Leu)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032200]	ChrX:154764911 [GRCh38] ChrX:153993186 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.472C>T (p.Arg158Trp)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032201]\|not provided [RCV000079663]	ChrX:154767020 [GRCh38] ChrX:153995295 [GRCh37] ChrX:Xq28	pathogenic\|uncertain significance\|not provided
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)	single nucleotide variant	DKC1-related disorder [RCV004018698]\|Dyskeratosis congenita [RCV000634503]\|Dyskeratosis congenita, X-linked [RCV000032203]\|not provided [RCV001573922]	ChrX:154769233 [GRCh38] ChrX:153997508 [GRCh37] ChrX:Xq28	pathogenic\|benign\|likely benign\|uncertain significance\|not provided
NM_001363.5(DKC1):c.911G>A (p.Ser304Asn)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032204]	ChrX:154769306 [GRCh38] ChrX:153997581 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.91C>G (p.Gln31Glu)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032205]	ChrX:154765450 [GRCh38] ChrX:153993725 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.941A>G (p.Lys314Arg)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032206]	ChrX:154770784 [GRCh38] ChrX:153999059 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.949C>G (p.Leu317Val)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032207]	ChrX:154770792 [GRCh38] ChrX:153999067 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.1039A>G (p.Ile347Val)	single nucleotide variant	Dyskeratosis congenita [RCV000546953]	ChrX:154773133 [GRCh38] ChrX:154001408 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.289C>A (p.Pro97Thr)	single nucleotide variant	not provided [RCV000518938]	ChrX:154766241 [GRCh38] ChrX:153994516 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.415G>A (p.Ala139Thr)	single nucleotide variant	Dyskeratosis congenita [RCV000549452]\|not provided [RCV001091838]	ChrX:154766367 [GRCh38] ChrX:153994642 [GRCh37] ChrX:Xq28	benign\|likely benign\|uncertain significance
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)	single nucleotide variant	Dyskeratosis congenita [RCV001857333]\|Dyskeratosis congenita, X-linked [RCV000055630]\|Hoyeraal-Hreidarsson syndrome [RCV000012350]\|not provided [RCV000479038]	ChrX:154766313 [GRCh38] ChrX:153994588 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic\|uncertain significance\|not provided
NM_001363.5(DKC1):c.109_111del (p.Leu37del)	deletion	Dyskeratosis congenita [RCV000634495]\|Dyskeratosis congenita, X-linked [RCV000012339]	ChrX:154765466..154765468 [GRCh38] ChrX:153993741..153993743 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del	deletion	Dyskeratosis congenita, X-linked [RCV000012345]	ChrX:154776374..154778317 [GRCh38] ChrX:Xq28	pathogenic
DKC1, -141C-G, PROMOTER	single nucleotide variant	Dyskeratosis congenita X-linked [RCV000012346]	ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.16+592C>G	single nucleotide variant	DKC1-related disorder [RCV004730843]\|Dyskeratosis congenita, X-linked [RCV000012347]	ChrX:154763573 [GRCh38] ChrX:153991848 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000055631]\|Hoyeraal-Hreidarsson syndrome [RCV000012351]	ChrX:154765472 [GRCh38] ChrX:153993747 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000012352]	ChrX:154765450 [GRCh38] ChrX:153993725 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala)	single nucleotide variant	Dyskeratosis congenita [RCV004018615]\|Dyskeratosis congenita, X-linked [RCV000012353]	ChrX:154773163 [GRCh38] ChrX:154001438 [GRCh37] ChrX:Xq28	pathogenic\|uncertain significance
NM_001363.5(DKC1):c.1259+1G>A	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000012354]	ChrX:154774706 [GRCh38] ChrX:154002981 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.1036+3A>G	single nucleotide variant	not provided [RCV000578798]	ChrX:154770882 [GRCh38] ChrX:153999157 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000012342]	ChrX:154774651 [GRCh38] ChrX:154002926 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.106T>G (p.Phe36Val)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000012338]	ChrX:154765465 [GRCh38] ChrX:153993740 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000012340]	ChrX:154765478 [GRCh38] ChrX:153993753 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr)	indel	Dyskeratosis congenita, X-linked [RCV000012341]	ChrX:154765949..154765950 [GRCh38] ChrX:153994224..153994225 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)	single nucleotide variant	Dyskeratosis congenita [RCV000464438]\|Dyskeratosis congenita, X-linked [RCV000012343]	ChrX:154773152 [GRCh38] ChrX:154001427 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.146C>T (p.Thr49Met)	single nucleotide variant	Dyskeratosis congenita [RCV000816060]\|Dyskeratosis congenita, X-linked [RCV000012349]\|not provided [RCV000254868]	ChrX:154765505 [GRCh38] ChrX:153993780 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032190]	ChrX:154774650 [GRCh38] ChrX:154002925 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032182]	ChrX:154773143 [GRCh38] ChrX:154001418 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032183]	ChrX:154773144 [GRCh38] ChrX:154001419 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032188]	ChrX:154765474 [GRCh38] ChrX:153993749 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys)	single nucleotide variant	Dyskeratosis congenita [RCV002514129]\|Dyskeratosis congenita, X-linked [RCV000032191]	ChrX:154765480 [GRCh38] ChrX:153993755 [GRCh37] ChrX:Xq28	pathogenic\|uncertain significance\|not provided
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu)	single nucleotide variant	Dyskeratosis congenita [RCV004018696]\|Dyskeratosis congenita, X-linked [RCV000032193]	ChrX:154774672 [GRCh38] ChrX:154002947 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic\|not provided
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032196]	ChrX:154765929 [GRCh38] ChrX:153994204 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala)	single nucleotide variant	Dyskeratosis congenita [RCV003529927]\|Dyskeratosis congenita, X-linked [RCV000032197]\|not provided [RCV001551970]	ChrX:154765931 [GRCh38] ChrX:153994206 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic\|not provided
NM_001363.5(DKC1):c.5C>T (p.Ala2Val)	single nucleotide variant	Dyskeratosis congenita [RCV001852640]\|Dyskeratosis congenita, X-linked [RCV000032202]	ChrX:154762970 [GRCh38] ChrX:153991245 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic\|uncertain significance\|not provided
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe)	single nucleotide variant	Dyskeratosis congenita [RCV004018699]\|Dyskeratosis congenita, X-linked [RCV000032208]	ChrX:154770792 [GRCh38] ChrX:153999067 [GRCh37] ChrX:Xq28	pathogenic\|uncertain significance\|not provided
NM_001363.5(DKC1):c.961C>G (p.Leu321Val)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000032209]	ChrX:154770804 [GRCh38] ChrX:153999079 [GRCh37] ChrX:Xq28	pathogenic\|not provided
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln)	single nucleotide variant	Dyskeratosis congenita [RCV001294532]\|Dyskeratosis congenita, X-linked [RCV000032210]	ChrX:154770808 [GRCh38] ChrX:153999083 [GRCh37] ChrX:Xq28	pathogenic\|uncertain significance\|not provided
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3	copy number gain	See cases [RCV000050657]	ChrX:149989929..156022206 [GRCh38] ChrX:149158160..155251871 [GRCh37] ChrX:148908818..154905065 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]\|See cases [RCV000051747]	ChrX:145879711..156022206 [GRCh38] ChrX:146715565..155251871 [GRCh37] ChrX:144768921..154905065 [NCBI36] ChrX:Xq27.3-28	pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1	copy number loss	See cases [RCV000051729]	ChrX:126537861..155996431 [GRCh38] ChrX:125671844..155226096 [GRCh37] ChrX:125499525..154879290 [NCBI36] ChrX:Xq25-28	pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	copy number gain	See cases [RCV000052445]	ChrX:123731372..155687381 [GRCh38] ChrX:122865222..154917042 [GRCh37] ChrX:122692903..154570236 [NCBI36] ChrX:Xq25-28	pathogenic
NM_001363.5(DKC1):c.1147G>A (p.Gly383Ser)	single nucleotide variant	not provided [RCV000087191]	ChrX:154773241 [GRCh38] ChrX:154001516 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.916-6C>T	single nucleotide variant	Dyskeratosis congenita [RCV001394505]	ChrX:154770753 [GRCh38] ChrX:153999028 [GRCh37] ChrX:Xq28	likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	copy number loss	See cases [RCV000134958]	ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3	copy number gain	See cases [RCV000136552]	ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1	copy number loss	See cases [RCV000136095]	ChrX:128473235..156003229 [GRCh38] ChrX:127607213..155232894 [GRCh37] ChrX:127434894..154886088 [NCBI36] ChrX:Xq25-28	pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1	copy number loss	See cases [RCV000136718]	ChrX:151750863..155522304 [GRCh38] ChrX:150919335..154751965 [GRCh37] ChrX:150669991..154405159 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq28(chrX:154604412-154935279)x3	copy number gain	See cases [RCV000137292]	ChrX:154604412..154935279 [GRCh38] ChrX:153485859..153816748 [NCBI36] ChrX:Xq28	likely pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1	copy number loss	See cases [RCV000139351]	ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28	pathogenic\|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	copy number loss	See cases [RCV000139400]	ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq28(chrX:154348522-154770053)x2	copy number gain	See cases [RCV000140492]	ChrX:154348522..154770053 [GRCh38] ChrX:153576890..153998328 [GRCh37] ChrX:153230084..153651522 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	copy number loss	See cases [RCV000141825]	ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	copy number gain	See cases [RCV000240143]	ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28	pathogenic
NM_001363.5(DKC1):c.1515A>C (p.Lys505Asn)	single nucleotide variant	Dyskeratosis congenita [RCV000548376]\|Dyskeratosis congenita, X-linked [RCV005044800]	ChrX:154776837 [GRCh38] ChrX:154005112 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1346G>C (p.Arg449Pro)	single nucleotide variant	Dyskeratosis congenita [RCV000559231]	ChrX:154776194 [GRCh38] ChrX:154004469 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1345C>G (p.Arg449Gly)	single nucleotide variant	not provided [RCV000224114]	ChrX:154776193 [GRCh38] ChrX:154004468 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)	microsatellite	DKC1-related disorder [RCV004020783]\|Dyskeratosis congenita [RCV000234537]\|Dyskeratosis congenita, X-linked [RCV000758194]\|not provided [RCV001574024]\|not specified [RCV000395921]	ChrX:154776814..154776816 [GRCh38] ChrX:154005089..154005091 [GRCh37] ChrX:Xq28	benign\|likely benign\|conflicting interpretations of pathogenicity
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2	copy number gain	See cases [RCV000240046]	ChrX:153627408..154089925 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	copy number gain	See cases [RCV000240148]	ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	copy number loss	See cases [RCV000240337]	ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	copy number loss	See cases [RCV000449365]	ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2	copy number gain	See cases [RCV000447331]	ChrX:152228560..154930047 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3	copy number gain	See cases [RCV000050946]	ChrX:150036146..156022206 [GRCh38] ChrX:149298619..155251871 [GRCh37] ChrX:148955035..154905065 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1	copy number loss	See cases [RCV000051160]	ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	copy number loss	See cases [RCV000051665]	ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28	pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1	copy number loss	See cases [RCV000051750]	ChrX:153296806..155699618 [GRCh38] ChrX:152568327..154929279 [GRCh37] ChrX:152215458..154582473 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	copy number loss	See cases [RCV000051666]	ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1	copy number loss	See cases [RCV000051728]	ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1	copy number loss	See cases [RCV000051713]	ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1	copy number loss	See cases [RCV000051732]	ChrX:136956500..156020993 [GRCh38] ChrX:136038659..155250658 [GRCh37] ChrX:135866325..154903852 [NCBI36] ChrX:Xq26.3-28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]\|See cases [RCV000051746]	ChrX:140445228..155998166 [GRCh38] ChrX:139527393..155227831 [GRCh37] ChrX:139355059..154881025 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|See cases [RCV000052327]	ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	copy number gain	See cases [RCV000052359]	ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3	copy number gain	See cases [RCV000052529]	ChrX:153932045..155611794 [GRCh38] ChrX:152850692..154494649 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]\|See cases [RCV000052490]	ChrX:152932818..156022206 [GRCh38] ChrX:152173071..155251871 [GRCh37] ChrX:151852018..154905065 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	copy number gain	See cases [RCV000052491]	ChrX:153395425..155687381 [GRCh38] ChrX:152314077..154570236 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2	copy number gain	See cases [RCV000052471]	ChrX:140226495..155687381 [GRCh38] ChrX:139308651..154917042 [GRCh37] ChrX:139136317..154570236 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3	copy number gain	See cases [RCV000052475]	ChrX:141160282..155699618 [GRCh38] ChrX:140254480..154929279 [GRCh37] ChrX:140082146..154582473 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001363.5(DKC1):c.166_167delinsTC (p.Leu56Ser)	indel	Dyskeratosis congenita, X-linked [RCV000059286]	ChrX:154765525..154765526 [GRCh38] ChrX:153993800..153993801 [GRCh37] ChrX:Xq28	not provided
NM_001363.5(DKC1):c.214C>T (p.Leu72Phe)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000059287]	ChrX:154765949 [GRCh38] ChrX:153994224 [GRCh37] ChrX:Xq28	not provided
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1	copy number loss	See cases [RCV000663390]	ChrX:153576750..154563104 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.1461C>T (p.Ala487=)	single nucleotide variant	Dyskeratosis congenita [RCV001517155]\|not provided [RCV001610404]\|not specified [RCV000116876]	ChrX:154776309 [GRCh38] ChrX:154004584 [GRCh37] ChrX:Xq28	benign\|likely benign\|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1	copy number loss	See cases [RCV000133818]	ChrX:139333024..155978689 [GRCh38] ChrX:138415183..155208354 [GRCh37] ChrX:138242849..154861548 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3	copy number gain	See cases [RCV000133725]	ChrX:144627217..155434735 [GRCh38] ChrX:146715565..154664396 [GRCh37] ChrX:143516380..154317590 [NCBI36] ChrX:Xq27.3-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3	copy number gain	See cases [RCV000133744]	ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	copy number loss	See cases [RCV000134570]	ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	copy number gain	See cases [RCV000134025]	ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1	copy number loss	See cases [RCV000135307]	ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1	copy number loss	See cases [RCV000134947]	ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	copy number loss	See cases [RCV000135552]	ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	copy number loss	See cases [RCV000135454]	ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq28(chrX:154679854-156003229)x1	copy number loss	See cases [RCV000136031]	ChrX:154679854..156003229 [GRCh38] ChrX:153908131..155232894 [GRCh37] ChrX:153561325..154886088 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2	copy number gain	See cases [RCV000135881]	ChrX:140783390..155611114 [GRCh38] ChrX:139865555..154785891 [GRCh37] ChrX:139693221..154493969 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1	copy number loss	See cases [RCV000136083]	ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1	copy number loss	See cases [RCV000136912]	ChrX:141650284..156022206 [GRCh38] ChrX:140738414..155251871 [GRCh37] ChrX:140566080..154905065 [NCBI36] ChrX:Xq27.2-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	copy number loss	See cases [RCV000137113]	ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2	copy number gain	See cases [RCV000136716]	ChrX:153322656..155522304 [GRCh38] ChrX:152864376..154751965 [GRCh37] ChrX:152241308..154405159 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3	copy number gain	See cases [RCV000137498]	ChrX:153276277..156003242 [GRCh38] ChrX:152465185..155232907 [GRCh37] ChrX:152118379..154886101 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	copy number gain	See cases [RCV000137553]	ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1	copy number loss	See cases [RCV000137415]	ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1	copy number loss	See cases [RCV000137257]	ChrX:137118983..156003242 [GRCh38] ChrX:136201142..155232907 [GRCh37] ChrX:136028808..154886101 [NCBI36] ChrX:Xq26.3-28	pathogenic\|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1	copy number loss	See cases [RCV000137167]	ChrX:123793526..156022206 [GRCh38] ChrX:122927376..155251871 [GRCh37] ChrX:122755057..154905065 [NCBI36] ChrX:Xq25-28	pathogenic\|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	copy number loss	See cases [RCV000137138]	ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	copy number gain	See cases [RCV000138020]	ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1	copy number loss	See cases [RCV000137887]	ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1	copy number loss	See cases [RCV000138679]	ChrX:143553831..156003229 [GRCh38] ChrX:142641674..155232894 [GRCh37] ChrX:142469340..154886088 [NCBI36] ChrX:Xq27.3-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	copy number loss	See cases [RCV000138787]	ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1	copy number loss	See cases [RCV000138541]	ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	copy number gain	See cases [RCV000139416]	ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1	copy number loss	See cases [RCV000139724]	ChrX:139530928..156003229 [GRCh38] ChrX:138613087..155232894 [GRCh37] ChrX:138440753..154886088 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	copy number loss	See cases [RCV000142016]	ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1	copy number loss	See cases [RCV000141743]	ChrX:119297670..156004066 [GRCh38] ChrX:118431633..155233731 [GRCh37] ChrX:118315661..154886925 [NCBI36] ChrX:Xq24-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	copy number loss	See cases [RCV000142337]	ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1	copy number loss	See cases [RCV000142137]	ChrX:118856574..156004066 [GRCh38] ChrX:117990537..155233731 [GRCh37] ChrX:117874565..154886925 [NCBI36] ChrX:Xq24-28	pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1	copy number loss	See cases [RCV000142037]	ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1	copy number loss	See cases [RCV000142190]	ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2	copy number gain	See cases [RCV000143002]	ChrX:148951460..155434653 [GRCh38] ChrX:148956425..154664314 [GRCh37] ChrX:147840690..154317508 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq28(chrX:154772625-154971051)x3	copy number gain	See cases [RCV000143085]	ChrX:154772625..154971051 [GRCh38] ChrX:153654094..153852520 [NCBI36] ChrX:Xq28	uncertain significance
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1	copy number loss	See cases [RCV000142577]	ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	copy number loss	See cases [RCV000143424]	ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	copy number loss	See cases [RCV000143349]	ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	copy number loss	See cases [RCV000143132]	ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_001363.5(DKC1):c.369G>T (p.Thr123=)	single nucleotide variant	Dyskeratosis congenita [RCV001514140]\|Dyskeratosis congenita, X-linked [RCV000787028]\|not provided [RCV004703432]\|not specified [RCV000153151]	ChrX:154766321 [GRCh38] ChrX:153994596 [GRCh37] ChrX:Xq28	benign\|likely benign\|drug response
NM_001363.5(DKC1):c.*6G>A	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV001657874]\|not provided [RCV001719950]\|not specified [RCV000153152]	ChrX:154776873 [GRCh38] ChrX:154005148 [GRCh37] ChrX:Xq28	benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)	microsatellite	Dyskeratosis congenita [RCV000228305]\|Dyskeratosis congenita, X-linked [RCV000615358]\|not provided [RCV001573717]\|not specified [RCV000192917]	ChrX:154776813..154776814 [GRCh38] ChrX:154005088..154005089 [GRCh37] ChrX:Xq28	benign\|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq28(chrX:153928244-154065414)x3	copy number gain	See cases [RCV000240020]	ChrX:153928244..154065414 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	copy number gain	See cases [RCV000240530]	ChrX:142174780..155250222 [GRCh37] ChrX:Xq27.3-28	pathogenic
NM_001363.5(DKC1):c.1174A>G (p.Met392Val)	single nucleotide variant	not specified [RCV000413656]	ChrX:154774620 [GRCh38] ChrX:154002895 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3	copy number gain	See cases [RCV000446471]	ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1	copy number loss	See cases [RCV000447490]	ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3	copy number gain	See cases [RCV000446151]	ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1	copy number loss	See cases [RCV000446761]	ChrX:150253008..155233731 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)	single nucleotide variant	Congenital cerebellar hypoplasia [RCV001257984]\|Dyskeratosis congenita [RCV003530047]\|Dyskeratosis congenita, X-linked [RCV000779660]\|not provided [RCV000442656]	ChrX:154773227 [GRCh38] ChrX:154001502 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic\|uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1	copy number loss	See cases [RCV000445891]	ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28	pathogenic
NM_001363.5(DKC1):c.980T>C (p.Ile327Thr)	single nucleotide variant	not provided [RCV000479908]	ChrX:154770823 [GRCh38] ChrX:153999098 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.259A>G (p.Ile87Val)	single nucleotide variant	Dyskeratosis congenita [RCV001210991]\|not provided [RCV000478198]	ChrX:154765994 [GRCh38] ChrX:153994269 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1494GAA[9] (p.Lys504_Lys505dup)	microsatellite	DKC1-related disorder [RCV004022900]\|Dyskeratosis congenita [RCV000473584]	ChrX:154776813..154776814 [GRCh38] ChrX:154005088..154005089 [GRCh37] ChrX:Xq28	likely benign\|uncertain significance
NM_001363.5(DKC1):c.1317C>T (p.Ala439=)	single nucleotide variant	Dyskeratosis congenita [RCV000473603]	ChrX:154775252 [GRCh38] ChrX:154003527 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2	copy number gain	See cases [RCV000510478]	ChrX:151201777..154741703 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.-74G>A	single nucleotide variant	not specified [RCV000501610]	ChrX:154762892 [GRCh38] ChrX:153991167 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.16+5G>A	single nucleotide variant	not specified [RCV000503052]	ChrX:154762986 [GRCh38] ChrX:153991261 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000491810]	ChrX:154773148 [GRCh38] ChrX:154001423 [GRCh37] ChrX:Xq28	likely pathogenic
NM_001363.5(DKC1):c.1512G>T (p.Lys504Asn)	single nucleotide variant	Dyskeratosis congenita [RCV000634490]	ChrX:154776834 [GRCh38] ChrX:154005109 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.84+10A>T	single nucleotide variant	DKC1-related disorder [RCV004025448]\|Dyskeratosis congenita [RCV000634515]	ChrX:154764976 [GRCh38] ChrX:153993251 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1494GAA[4] (p.Lys503_Lys505del)	microsatellite	Dyskeratosis congenita [RCV000535422]	ChrX:154776814..154776822 [GRCh38] ChrX:154005089..154005097 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.369= (p.Thr123=)	single nucleotide variant	Dyskeratosis congenita [RCV000536813]	ChrX:154766321 [GRCh38] ChrX:153994596 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	copy number loss	See cases [RCV000512372]	ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn)	single nucleotide variant	Dyskeratosis congenita [RCV000687325]	ChrX:154767364 [GRCh38] ChrX:153995639 [GRCh37] ChrX:Xq28	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001363.5(DKC1):c.1409AGA[2] (p.Lys472del)	microsatellite	Dyskeratosis congenita [RCV000690270]	ChrX:154776256..154776258 [GRCh38] ChrX:154004531..154004533 [GRCh37] ChrX:Xq28	benign\|likely benign\|uncertain significance
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr)	single nucleotide variant	Dyskeratosis congenita [RCV000696342]	ChrX:154765508 [GRCh38] ChrX:153993783 [GRCh37] ChrX:Xq28	likely pathogenic
NM_001363.5(DKC1):c.1533G>C (p.Leu511Phe)	single nucleotide variant	Dyskeratosis congenita [RCV000703624]	ChrX:154776855 [GRCh38] ChrX:154005130 [GRCh37] ChrX:Xq28	likely benign\|uncertain significance
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg)	single nucleotide variant	DKC1-related disorder [RCV004026918]\|Dyskeratosis congenita [RCV000861992]\|History of neurodevelopmental disorder [RCV000721040]\|not provided [RCV001573187]\|not specified [RCV001816790]	ChrX:154776304 [GRCh38] ChrX:154004579 [GRCh37] ChrX:Xq28	benign\|likely benign\|uncertain significance
NM_001363.5(DKC1):c.1259+39C>T	single nucleotide variant	not provided [RCV001566188]	ChrX:154774744 [GRCh38] ChrX:154003019 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	copy number loss	not provided [RCV000846958]	ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1	copy number loss	not provided [RCV000753556]	ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28	pathogenic
NM_001363.5(DKC1):c.1155+57_1155+58del	deletion	not provided [RCV001541394]	ChrX:154773306..154773307 [GRCh38] ChrX:154001581..154001582 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	copy number loss	Premature ovarian insufficiency [RCV000852349]	ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28	likely pathogenic
NM_001363.5(DKC1):c.916-270del	deletion	not provided [RCV001666629]	ChrX:154770468 [GRCh38] ChrX:153998743 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xq28(chrX:153263517-155260560)x2	copy number gain	Intellectual disability [RCV001638056]	ChrX:153263517..155260560 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	copy number loss	not provided [RCV001007322]	ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
NM_001363.5(DKC1):c.1155+35C>T	single nucleotide variant	not provided [RCV001679320]	ChrX:154773284 [GRCh38] ChrX:154001559 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.1074C>T (p.Cys358=)	single nucleotide variant	Dyskeratosis congenita [RCV001506194]	ChrX:154773168 [GRCh38] ChrX:154001443 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001363.5(DKC1):c.776A>C (p.His259Pro)	single nucleotide variant	Dyskeratosis congenita [RCV001079147]\|not provided [RCV000420457]\|not specified [RCV001727714]	ChrX:154769171 [GRCh38] ChrX:153997446 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1	copy number loss	See cases [RCV000448724]	ChrX:126773628..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1	copy number loss	See cases [RCV000448865]	ChrX:134114063..155233731 [GRCh37] ChrX:Xq26.3-28	pathogenic
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000501902]	ChrX:154774701 [GRCh38] ChrX:154002976 [GRCh37] ChrX:Xq28	likely pathogenic
NM_001363.5(DKC1):c.468T>A (p.Ile156=)	single nucleotide variant	Dyskeratosis congenita [RCV002527238]\|not specified [RCV000499987]	ChrX:154767016 [GRCh38] ChrX:153995291 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	copy number gain	See cases [RCV000511787]	ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	copy number loss	See cases [RCV000511413]	ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28	pathogenic\|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	copy number loss	See cases [RCV000511572]	ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	copy number loss	See cases [RCV000511936]	ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	copy number loss	See cases [RCV000511482]	ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	copy number loss	See cases [RCV000511490]	ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1	copy number loss	See cases [RCV000511228]	ChrX:146232592..155233731 [GRCh37] ChrX:Xq27.3-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	copy number gain	See cases [RCV000511307]	ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	copy number loss	See cases [RCV000510820]	ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1	copy number loss	See cases [RCV000510866]	ChrX:151963528..155233731 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1	copy number loss	See cases [RCV000510920]	ChrX:151311551..155233731 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3	copy number gain	See cases [RCV000511034]	ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28	pathogenic
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu)	single nucleotide variant	Dyskeratosis congenita [RCV000634485]\|Dyskeratosis congenita, X-linked [RCV003333091]	ChrX:154767035 [GRCh38] ChrX:153995310 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	copy number gain	See cases [RCV000512173]	ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
NM_001363.5(DKC1):c.203A>G (p.His68Arg)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV000677353]	ChrX:154765938 [GRCh38] ChrX:153994213 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	copy number loss	not provided [RCV000684386]	ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1	copy number loss	not provided [RCV000684397]	ChrX:138331745..155233731 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1	copy number loss	not provided [RCV000684401]	ChrX:139504488..155233731 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3	copy number gain	not provided [RCV000684402]	ChrX:140388077..155233731 [GRCh37] ChrX:Xq27.2-28	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	copy number loss	not provided [RCV000684373]	ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	copy number loss	not provided [RCV000684357]	ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	copy number loss	not provided [RCV000684363]	ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
GRCh37/hg19 Xq28(chrX:153749360-155233731)x3	copy number gain	not provided [RCV000684416]	ChrX:153749360..155233731 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	copy number gain	Syndromic X-linked intellectual disability Lubs type [RCV003214133]	ChrX:139586015..154774957 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq28(chrX:153904473-155090513)x0	copy number loss	not provided [RCV000753943]	ChrX:153904473..155090513 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1	copy number loss	not provided [RCV000753810]	ChrX:138750575..155246749 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1	copy number loss	not provided [RCV000753815]	ChrX:139504958..155254881 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1	copy number loss	not provided [RCV000753606]	ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001363.5(DKC1):c.1293G>A (p.Val431=)	single nucleotide variant	DKC1-related disorder [RCV004027616]\|Dyskeratosis congenita [RCV000864167]	ChrX:154775228 [GRCh38] ChrX:154003503 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1350G>C (p.Glu450Asp)	single nucleotide variant	Dyskeratosis congenita [RCV001401399]\|Dyskeratosis congenita, X-linked [RCV005047156]	ChrX:154776198 [GRCh38] ChrX:154004473 [GRCh37] ChrX:Xq28	likely benign\|uncertain significance
NM_001363.5(DKC1):c.1206G>A (p.Gly402=)	single nucleotide variant	Dyskeratosis congenita [RCV000869724]	ChrX:154774652 [GRCh38] ChrX:154002927 [GRCh37] ChrX:Xq28	likely benign
NC_000023.10:g.(?_153991099)_(154005162_?)dup	duplication	Dyskeratosis congenita [RCV001032768]	ChrX:153991099..154005162 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:153761240-155227607)	copy number loss	not provided [RCV000767811]	ChrX:153761240..155227607 [GRCh37] ChrX:Xq28	likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	copy number loss	not provided [RCV000849097]	ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
NM_001363.5(DKC1):c.975C>T (p.Asp325=)	single nucleotide variant	Dyskeratosis congenita [RCV000868605]	ChrX:154770818 [GRCh38] ChrX:153999093 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1362A>G (p.Glu454=)	single nucleotide variant	Dyskeratosis congenita [RCV001465720]	ChrX:154776210 [GRCh38] ChrX:154004485 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1494GAA[5] (p.Lys504_Lys505del)	microsatellite	Dyskeratosis congenita [RCV000983964]	ChrX:154776814..154776819 [GRCh38] ChrX:154005089..154005094 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.1167G>A (p.Lys389=)	single nucleotide variant	Dyskeratosis congenita [RCV001440717]	ChrX:154774613 [GRCh38] ChrX:154002888 [GRCh37] ChrX:Xq28	likely benign\|conflicting interpretations of pathogenicity
NM_001363.5(DKC1):c.1339-5C>T	single nucleotide variant	Dyskeratosis congenita [RCV001403191]\|not provided [RCV000868239]	ChrX:154776182 [GRCh38] ChrX:154004457 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1509G>A (p.Lys503=)	single nucleotide variant	Dyskeratosis congenita [RCV001446937]	ChrX:154776831 [GRCh38] ChrX:154005106 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq28(chrX:153941568-154290231)x2	copy number gain	not provided [RCV000846317]	ChrX:153941568..154290231 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV001195949]	ChrX:154765492 [GRCh38] ChrX:153993767 [GRCh37] ChrX:Xq28	likely pathogenic
NM_001363.5(DKC1):c.263+6T>C	single nucleotide variant	Dyskeratosis congenita [RCV001225788]	ChrX:154766004 [GRCh38] ChrX:153994279 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.976G>A (p.Gly326Ser)	single nucleotide variant	Dyskeratosis congenita [RCV001214307]	ChrX:154770819 [GRCh38] ChrX:153999094 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1524G>T (p.Glu508Asp)	single nucleotide variant	Dyskeratosis congenita [RCV001240959]	ChrX:154776846 [GRCh38] ChrX:154005121 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.916-148C>T	single nucleotide variant	not provided [RCV001564262]	ChrX:154770611 [GRCh38] ChrX:153998886 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1036+29C>G	single nucleotide variant	not provided [RCV001550139]	ChrX:154770908 [GRCh38] ChrX:153999183 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.84+238A>G	single nucleotide variant	not provided [RCV001553464]	ChrX:154765204 [GRCh38] ChrX:153993479 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1036+330dup	duplication	not provided [RCV001695404]	ChrX:154771187..154771188 [GRCh38] ChrX:153999462..153999463 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.16+219C>T	single nucleotide variant	not provided [RCV001598558]	ChrX:154763200 [GRCh38] ChrX:153991475 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.641-238A>T	single nucleotide variant	not provided [RCV001570088]	ChrX:154768064 [GRCh38] ChrX:153996339 [GRCh37] ChrX:Xq28	likely benign
NC_000023.11:g.154762624A>G	single nucleotide variant	not provided [RCV001563075]	ChrX:154762624 [GRCh38] ChrX:153990899 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.915+110C>T	single nucleotide variant	not provided [RCV001620611]	ChrX:154769420..154769421 [GRCh38] ChrX:154769420 [GRCh38] ChrX:153997695..153997696 [GRCh37] ChrX:153997695 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.171+14del	deletion	Dyskeratosis congenita [RCV002072936]\|not provided [RCV001621892]\|not specified [RCV001821932]	ChrX:154765541 [GRCh38] ChrX:153993816 [GRCh37] ChrX:Xq28	benign\|likely benign
NM_001363.5(DKC1):c.877T>C (p.Leu293=)	single nucleotide variant	Dyskeratosis congenita [RCV000877518]	ChrX:154769272 [GRCh38] ChrX:153997547 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.884C>T (p.Ser295Phe)	single nucleotide variant	Dyskeratosis congenita [RCV001244338]	ChrX:154769279 [GRCh38] ChrX:153997554 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.629A>G (p.Glu210Gly)	single nucleotide variant	Dyskeratosis congenita [RCV001218670]	ChrX:154767371 [GRCh38] ChrX:153995646 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1276G>C (p.Glu426Gln)	single nucleotide variant	Dyskeratosis congenita [RCV001245403]	ChrX:154775211 [GRCh38] ChrX:154003486 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1036+6_1036+7del	microsatellite	DKC1-related disorder [RCV004032505]\|Dyskeratosis congenita [RCV001224331]	ChrX:154770883..154770884 [GRCh38] ChrX:153999158..153999159 [GRCh37] ChrX:Xq28	likely benign\|uncertain significance
NM_001363.5(DKC1):c.191T>G (p.Val64Gly)	single nucleotide variant	Dyskeratosis congenita [RCV001209989]	ChrX:154765926 [GRCh38] ChrX:153994201 [GRCh37] ChrX:Xq28	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001363.5(DKC1):c.916-149A>C	single nucleotide variant	not provided [RCV001574817]	ChrX:154770610 [GRCh38] ChrX:153998885 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.616G>A (p.Glu206Lys)	single nucleotide variant	Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 [RCV003236695]	ChrX:154767358 [GRCh38] ChrX:153995633 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.1155+57dup	duplication	not provided [RCV001688888]	ChrX:154773284..154773285 [GRCh38] ChrX:154001559..154001560 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.1155+57del	deletion	not provided [RCV001614171]	ChrX:154773285 [GRCh38] ChrX:154001560 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.*40T>C	single nucleotide variant	not provided [RCV001567998]	ChrX:154776907 [GRCh38] ChrX:154005182 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1346G>A (p.Arg449Gln)	single nucleotide variant	Inherited Immunodeficiency Diseases [RCV001027568]	ChrX:154776194 [GRCh38] ChrX:154004469 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del)	microsatellite	Dyskeratosis congenita [RCV001233988]\|Dyskeratosis congenita, X-linked [RCV002497802]	ChrX:154764922..154764924 [GRCh38] ChrX:153993197..153993199 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1349A>T (p.Glu450Val)	single nucleotide variant	Dyskeratosis congenita [RCV001234189]\|not specified [RCV001815028]	ChrX:154776197 [GRCh38] ChrX:154004472 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1334C>T (p.Ala445Val)	single nucleotide variant	Dyskeratosis congenita [RCV001064678]	ChrX:154775269 [GRCh38] ChrX:154003544 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	copy number gain	See cases [RCV001263024]	ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq28(chrX:152372767-155233731)	copy number gain	Chromosome Xq28 duplication syndrome [RCV002280621]\|Syndromic X-linked intellectual disability Lubs type [RCV002280620]	ChrX:152372767..155233731 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.1481G>A (p.Ser494Asn)	single nucleotide variant	Dyskeratosis congenita [RCV001319469]	ChrX:154776803 [GRCh38] ChrX:154005078 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1305G>A (p.Pro435=)	single nucleotide variant	Dyskeratosis congenita [RCV001396575]	ChrX:154775240 [GRCh38] ChrX:154003515 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	copy number gain	not provided [RCV001281359]	ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
NM_001363.5(DKC1):c.993G>A (p.Gln331=)	single nucleotide variant	Dyskeratosis congenita [RCV001413952]	ChrX:154770836 [GRCh38] ChrX:153999111 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.487A>G (p.Ile163Val)	single nucleotide variant	Dyskeratosis congenita [RCV001315023]	ChrX:154767035 [GRCh38] ChrX:153995310 [GRCh37] ChrX:Xq28	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001363.5(DKC1):c.979A>G (p.Ile327Val)	single nucleotide variant	Dyskeratosis congenita [RCV001322636]	ChrX:154770822 [GRCh38] ChrX:153999097 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.484G>A (p.Ala162Thr)	single nucleotide variant	DKC1-related disorder [RCV004036667]\|Dyskeratosis congenita [RCV001351935]	ChrX:154767032 [GRCh38] ChrX:153995307 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.159C>T (p.Pro53=)	single nucleotide variant	Dyskeratosis congenita [RCV001412590]	ChrX:154765518 [GRCh38] ChrX:153993793 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.948G>T (p.Met316Ile)	single nucleotide variant	Dyskeratosis congenita [RCV001367086]	ChrX:154770791 [GRCh38] ChrX:153999066 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.985G>A (p.Val329Ile)	single nucleotide variant	Dyskeratosis congenita [RCV001303936]	ChrX:154770828 [GRCh38] ChrX:153999103 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.85-5C>T	single nucleotide variant	Dyskeratosis congenita [RCV001395278]\|not provided [RCV003438755]	ChrX:154765439 [GRCh38] ChrX:153993714 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.267A>C (p.Thr89=)	single nucleotide variant	DKC1-related disorder [RCV004037827]\|Dyskeratosis congenita [RCV001401834]	ChrX:154766219 [GRCh38] ChrX:153994494 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.912T>C (p.Ser304=)	single nucleotide variant	Dyskeratosis congenita [RCV001458199]	ChrX:154769307 [GRCh38] ChrX:153997582 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.126C>G (p.Ser42=)	single nucleotide variant	Dyskeratosis congenita [RCV001473625]	ChrX:154765485 [GRCh38] ChrX:153993760 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.915+9C>T	single nucleotide variant	Dyskeratosis congenita [RCV001487919]	ChrX:154769319 [GRCh38] ChrX:153997594 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.262A>C (p.Arg88=)	single nucleotide variant	DKC1-related disorder [RCV004758796]\|Dyskeratosis congenita [RCV001418760]	ChrX:154765997 [GRCh38] ChrX:153994272 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1353T>A (p.Ser451Arg)	single nucleotide variant	Dyskeratosis congenita [RCV001882550]\|Dyskeratosis congenita, X-linked [RCV005040299]\|not provided [RCV001508068]\|not specified [RCV001821802]	ChrX:154776201 [GRCh38] ChrX:154004476 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1059G>A (p.Ala353=)	single nucleotide variant	Dyskeratosis congenita [RCV001427331]\|not provided [RCV004704548]	ChrX:154773153 [GRCh38] ChrX:154001428 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.399C>T (p.Ile133=)	single nucleotide variant	Dyskeratosis congenita [RCV001407276]	ChrX:154766351 [GRCh38] ChrX:153994626 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.771+19G>C	single nucleotide variant	Dyskeratosis congenita [RCV001430655]	ChrX:154768451 [GRCh38] ChrX:153996726 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1266T>G (p.Ser422=)	single nucleotide variant	Dyskeratosis congenita [RCV001481508]	ChrX:154775201 [GRCh38] ChrX:154003476 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.916-270dup	duplication	not provided [RCV001710798]	ChrX:154770467..154770468 [GRCh38] ChrX:153998742..153998743 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.1455C>T (p.Ser485=)	single nucleotide variant	Dyskeratosis congenita [RCV001493865]	ChrX:154776303 [GRCh38] ChrX:154004578 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.65T>C (p.Leu22Ser)	single nucleotide variant	not provided [RCV001509143]	ChrX:154764947 [GRCh38] ChrX:153993222 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1036+8G>A	single nucleotide variant	Dyskeratosis congenita [RCV001463442]	ChrX:154770887 [GRCh38] ChrX:153999162 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.916-5T>C	single nucleotide variant	Dyskeratosis congenita [RCV001435899]	ChrX:154770754 [GRCh38] ChrX:153999029 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.600C>T (p.Tyr200=)	single nucleotide variant	Dyskeratosis congenita [RCV001504885]	ChrX:154767342 [GRCh38] ChrX:153995617 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1156-7C>T	single nucleotide variant	Dyskeratosis congenita [RCV001457752]	ChrX:154774595 [GRCh38] ChrX:154002870 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.514-8G>T	single nucleotide variant	Dyskeratosis congenita [RCV001483389]	ChrX:154767248 [GRCh38] ChrX:153995523 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.171+8G>A	single nucleotide variant	Dyskeratosis congenita [RCV001400097]	ChrX:154765538 [GRCh38] ChrX:153993813 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.939C>T (p.Ala313=)	single nucleotide variant	Dyskeratosis congenita [RCV003108585]	ChrX:154770782 [GRCh38] ChrX:153999057 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.-59G>T	single nucleotide variant	not specified [RCV001819239]	ChrX:154762907 [GRCh38] ChrX:153991182 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.-70C>G	single nucleotide variant	not specified [RCV001822239]	ChrX:154762896 [GRCh38] ChrX:153991171 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.4(DKC1):c.-171A>T	single nucleotide variant	not specified [RCV001822323]	ChrX:154762795 [GRCh38] ChrX:153991070 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.-19G>C	single nucleotide variant	not specified [RCV001819287]	ChrX:154762947 [GRCh38] ChrX:153991222 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001363.5(DKC1):c.916-6C>G	single nucleotide variant	Dyskeratosis congenita [RCV001890352]	ChrX:154770753 [GRCh38] ChrX:153999028 [GRCh37] ChrX:Xq28	likely benign\|uncertain significance
NM_001363.5(DKC1):c.1477-1G>C	single nucleotide variant	Dyskeratosis congenita [RCV001871047]	ChrX:154776798 [GRCh38] ChrX:154005073 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1343A>G (p.Lys448Arg)	single nucleotide variant	Dyskeratosis congenita [RCV001891334]	ChrX:154776191 [GRCh38] ChrX:154004466 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1027A>G (p.Ile343Val)	single nucleotide variant	Dyskeratosis congenita [RCV001891830]	ChrX:154770870 [GRCh38] ChrX:153999145 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.253G>A (p.Asp85Asn)	single nucleotide variant	Dyskeratosis congenita [RCV001946300]\|Dyskeratosis congenita, X-linked [RCV004731205]	ChrX:154765988 [GRCh38] ChrX:153994263 [GRCh37] ChrX:Xq28	likely benign\|uncertain significance
NM_001363.5(DKC1):c.1451A>C (p.Glu484Ala)	single nucleotide variant	Dyskeratosis congenita [RCV001913527]	ChrX:154776299 [GRCh38] ChrX:154004574 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.93A>G (p.Gln31=)	single nucleotide variant	Dyskeratosis congenita [RCV002104270]	ChrX:154765452 [GRCh38] ChrX:153993727 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.52_54del (p.Glu18del)	deletion	Dyskeratosis congenita [RCV001962517]	ChrX:154764932..154764934 [GRCh38] ChrX:153993207..153993209 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.220T>C (p.Cys74Arg)	single nucleotide variant	Dyskeratosis congenita [RCV001982509]	ChrX:154765955 [GRCh38] ChrX:153994230 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.537C>G (p.Ala179=)	single nucleotide variant	Dyskeratosis congenita [RCV001905336]	ChrX:154767279 [GRCh38] ChrX:153995554 [GRCh37] ChrX:Xq28	conflicting interpretations of pathogenicity\|uncertain significance
NM_001363.5(DKC1):c.1171C>A (p.Leu391Met)	single nucleotide variant	Dyskeratosis congenita [RCV001991056]	ChrX:154774617 [GRCh38] ChrX:154002892 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1500G>A (p.Lys500=)	single nucleotide variant	Dyskeratosis congenita [RCV001960712]	ChrX:154776822 [GRCh38] ChrX:154005097 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1114G>C (p.Glu372Gln)	single nucleotide variant	Dyskeratosis congenita [RCV002033798]	ChrX:154773208 [GRCh38] ChrX:154001483 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.263+13del	deletion	Dyskeratosis congenita [RCV002088917]	ChrX:154766011 [GRCh38] ChrX:153994286 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1482T>C (p.Ser494=)	single nucleotide variant	Dyskeratosis congenita [RCV002092658]	ChrX:154776804 [GRCh38] ChrX:154005079 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.519A>G (p.Leu173=)	single nucleotide variant	Dyskeratosis congenita [RCV002192565]	ChrX:154767261 [GRCh38] ChrX:153995536 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1416G>A (p.Lys472=)	single nucleotide variant	Dyskeratosis congenita [RCV002084656]	ChrX:154776264 [GRCh38] ChrX:154004539 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1383A>G (p.Ala461=)	single nucleotide variant	Dyskeratosis congenita [RCV002108322]	ChrX:154776231 [GRCh38] ChrX:154004506 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1245G>A (p.Glu415=)	single nucleotide variant	Dyskeratosis congenita [RCV002111066]	ChrX:154774691 [GRCh38] ChrX:154002966 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.138G>A (p.Lys46=)	single nucleotide variant	Dyskeratosis congenita [RCV002132306]	ChrX:154765497 [GRCh38] ChrX:153993772 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.522A>G (p.Glu174=)	single nucleotide variant	Dyskeratosis congenita [RCV002147973]	ChrX:154767264 [GRCh38] ChrX:153995539 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.847C>A (p.Arg283=)	single nucleotide variant	Dyskeratosis congenita [RCV002197538]	ChrX:154769242 [GRCh38] ChrX:153997517 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1476+20G>A	single nucleotide variant	Dyskeratosis congenita [RCV002095471]	ChrX:154776344 [GRCh38] ChrX:154004619 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1156-14del	deletion	Dyskeratosis congenita [RCV002117183]	ChrX:154774587 [GRCh38] ChrX:154002862 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.17-14_17-13del	microsatellite	Dyskeratosis congenita [RCV002210895]	ChrX:154764882..154764883 [GRCh38] ChrX:153993157..153993158 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1155+19C>G	single nucleotide variant	Dyskeratosis congenita [RCV002115403]	ChrX:154773268 [GRCh38] ChrX:154001543 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.264-9C>T	single nucleotide variant	Dyskeratosis congenita [RCV002114441]\|not specified [RCV002240301]	ChrX:154766207 [GRCh38] ChrX:153994482 [GRCh37] ChrX:Xq28	likely benign\|uncertain significance
NM_001363.5(DKC1):c.75A>G (p.Glu25=)	single nucleotide variant	Dyskeratosis congenita [RCV002171999]	ChrX:154764957 [GRCh38] ChrX:153993232 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1503G>A (p.Lys501=)	single nucleotide variant	Dyskeratosis congenita [RCV002197097]	ChrX:154776825 [GRCh38] ChrX:154005100 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.357G>A (p.Gly119=)	single nucleotide variant	Dyskeratosis congenita [RCV002083083]	ChrX:154766309 [GRCh38] ChrX:153994584 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.17-10G>A	single nucleotide variant	Dyskeratosis congenita [RCV002198215]	ChrX:154764889 [GRCh38] ChrX:153993164 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1338+20C>T	single nucleotide variant	Dyskeratosis congenita [RCV002184419]	ChrX:154775293 [GRCh38] ChrX:154003568 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.822T>C (p.Asp274=)	single nucleotide variant	Dyskeratosis congenita [RCV002258596]	ChrX:154769217 [GRCh38] ChrX:153997492 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1281G>A (p.Val427=)	single nucleotide variant	Dyskeratosis congenita [RCV002220677]	ChrX:154775216 [GRCh38] ChrX:154003491 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.16+24_16+39del	deletion	Dyskeratosis congenita [RCV002118604]	ChrX:154762998..154763013 [GRCh38] ChrX:153991273..153991288 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.172-13C>T	single nucleotide variant	Dyskeratosis congenita [RCV002137262]	ChrX:154765894 [GRCh38] ChrX:153994169 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.582C>G (p.Leu194=)	single nucleotide variant	Dyskeratosis congenita [RCV002118391]	ChrX:154767324 [GRCh38] ChrX:153995599 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1335G>A (p.Ala445=)	single nucleotide variant	Dyskeratosis congenita [RCV002175894]	ChrX:154775270 [GRCh38] ChrX:154003545 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.36A>G (p.Lys12=)	single nucleotide variant	Dyskeratosis congenita [RCV002203658]	ChrX:154764918 [GRCh38] ChrX:153993193 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.263+17G>A	single nucleotide variant	Dyskeratosis congenita [RCV002163253]	ChrX:154766015 [GRCh38] ChrX:153994290 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1155+19C>T	single nucleotide variant	Dyskeratosis congenita [RCV003121809]	ChrX:154773268 [GRCh38] ChrX:154001543 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1352G>C (p.Ser451Thr)	single nucleotide variant	Dyskeratosis congenita [RCV002255955]	ChrX:154776200 [GRCh38] ChrX:154004475 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001363.5(DKC1):c.70G>A (p.Glu24Lys)	single nucleotide variant	Dyskeratosis congenita [RCV002258595]	ChrX:154764952 [GRCh38] ChrX:153993227 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:153529891-155114697)x3	copy number gain	not provided [RCV002265532]	ChrX:153529891..155114697 [GRCh37] ChrX:Xq28	not provided
NM_001363.5(DKC1):c.1070C>G (p.Thr357Ser)	single nucleotide variant	not provided [RCV002293613]	ChrX:154773164 [GRCh38] ChrX:154001439 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1155+56_1155+57del	deletion	not provided [RCV002286083]	ChrX:154773285..154773286 [GRCh38] ChrX:154001560..154001561 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	copy number loss	not provided [RCV002474567]	ChrX:124749464..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
NM_001363.5(DKC1):c.189T>G (p.Asn63Lys)	single nucleotide variant	Dyskeratosis congenita [RCV004060759]	ChrX:154765924 [GRCh38] ChrX:153994199 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.1036+10G>T	single nucleotide variant	Dyskeratosis congenita [RCV004057814]	ChrX:154770889 [GRCh38] ChrX:153999164 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.748C>T (p.Arg250Cys)	single nucleotide variant	not provided [RCV002300821]	ChrX:154768409 [GRCh38] ChrX:153996684 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.423C>G (p.Arg141=)	single nucleotide variant	Dyskeratosis congenita [RCV004051950]	ChrX:154766375 [GRCh38] ChrX:153994650 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.442A>G (p.Ser148Gly)	single nucleotide variant	Dyskeratosis congenita [RCV004050683]	ChrX:154766394 [GRCh38] ChrX:153994669 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1046T>C (p.Leu349Ser)	single nucleotide variant	Dyskeratosis congenita [RCV004057285]	ChrX:154773140 [GRCh38] ChrX:154001415 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.176T>C (p.Phe59Ser)	single nucleotide variant	Dyskeratosis congenita [RCV004061391]	ChrX:154765911 [GRCh38] ChrX:153994186 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.142G>A (p.Asp48Asn)	single nucleotide variant	Dyskeratosis congenita [RCV002685541]	ChrX:154765501 [GRCh38] ChrX:153993776 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.771+11C>T	single nucleotide variant	Dyskeratosis congenita [RCV002995083]	ChrX:154768443 [GRCh38] ChrX:153996718 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.559A>C (p.Ile187Leu)	single nucleotide variant	Dyskeratosis congenita [RCV002953670]\|Dyskeratosis congenita, X-linked [RCV003230300]	ChrX:154767301 [GRCh38] ChrX:153995576 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.851G>A (p.Arg284Gln)	single nucleotide variant	Pulmonary fibrosis [RCV002509769]	ChrX:154769246 [GRCh38] ChrX:153997521 [GRCh37] ChrX:Xq28	likely risk allele
NM_001363.5(DKC1):c.1036+10G>C	single nucleotide variant	Dyskeratosis congenita [RCV002975779]	ChrX:154770889 [GRCh38] ChrX:153999164 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1036+7G>A	single nucleotide variant	Dyskeratosis congenita [RCV003077762]	ChrX:154770886 [GRCh38] ChrX:153999161 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.30A>G (p.Pro10=)	single nucleotide variant	Dyskeratosis congenita [RCV002761574]	ChrX:154764912 [GRCh38] ChrX:153993187 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1431G>A (p.Lys477=)	single nucleotide variant	DKC1-related disorder [RCV004029334]\|Dyskeratosis congenita [RCV000863424]\|not provided [RCV004714135]\|not specified [RCV001816956]	ChrX:154776279 [GRCh38] ChrX:154004554 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	copy number gain	not provided [RCV000767679]	ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28	pathogenic
NM_001363.5(DKC1):c.97G>A (p.Ala33Thr)	single nucleotide variant	Dyskeratosis congenita [RCV001059143]\|not provided [RCV004792697]	ChrX:154765456 [GRCh38] ChrX:153993731 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	copy number loss	not provided [RCV000848218]	ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001363.5(DKC1):c.85-4G>A	single nucleotide variant	DKC1-related disorder [RCV004027660]\|Dyskeratosis congenita [RCV000865901]	ChrX:154765440 [GRCh38] ChrX:153993715 [GRCh37] ChrX:Xq28	likely benign
NC_000023.10:g.(?_152954020)_(154096327_?)del	deletion	Adrenoleukodystrophy [RCV000815921]	ChrX:152954020..154096327 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.828C>T (p.His276=)	single nucleotide variant	Dyskeratosis congenita [RCV000937023]	ChrX:154769223 [GRCh38] ChrX:153997498 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	copy number loss	not provided [RCV001007318]	ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
NM_001363.5(DKC1):c.39T>C (p.His13=)	single nucleotide variant	Dyskeratosis congenita [RCV000870147]	ChrX:154764921 [GRCh38] ChrX:153993196 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	copy number loss	not provided [RCV000847838]	ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	copy number loss	not provided [RCV000845672]	ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28	pathogenic
NM_001363.5(DKC1):c.978C>T (p.Gly326=)	single nucleotide variant	Dyskeratosis congenita [RCV001219330]	ChrX:154770821 [GRCh38] ChrX:153999096 [GRCh37] ChrX:Xq28	benign\|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001363.5(DKC1):c.1512_1513insGAA (p.Lys504_Lys505insGlu)	insertion	not provided [RCV001649069]	ChrX:154776834..154776835 [GRCh38] ChrX:154005109..154005110 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.915+10G>A	single nucleotide variant	Dyskeratosis congenita [RCV002066121]\|not provided [RCV000933136]\|not specified [RCV001818904]	ChrX:154769320 [GRCh38] ChrX:153997595 [GRCh37] ChrX:Xq28	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001363.5(DKC1):c.1155+8G>A	single nucleotide variant	DKC1-related disorder [RCV004027776]\|Dyskeratosis congenita [RCV002539954]	ChrX:154773257 [GRCh38] ChrX:154001532 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1210C>G (p.Pro404Ala)	single nucleotide variant	DKC1-related disorder [RCV004034701]\|Dyskeratosis congenita [RCV001242033]	ChrX:154774656 [GRCh38] ChrX:154002931 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.494G>T (p.Gly165Val)	single nucleotide variant	Dyskeratosis congenita [RCV001242372]	ChrX:154767042 [GRCh38] ChrX:153995317 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.494G>C (p.Gly165Ala)	single nucleotide variant	Dyskeratosis congenita [RCV001944886]	ChrX:154767042 [GRCh38] ChrX:153995317 [GRCh37] ChrX:Xq28	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001363.5(DKC1):c.21T>A (p.Ile7=)	single nucleotide variant	not provided [RCV000933846]	ChrX:154764903 [GRCh38] ChrX:153993178 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.264-8C>A	single nucleotide variant	Dyskeratosis congenita [RCV002257291]	ChrX:154766208 [GRCh38] ChrX:153994483 [GRCh37] ChrX:Xq28	likely benign
NC_000023.11:g.154762460C>G	single nucleotide variant	not provided [RCV001659142]	ChrX:154762460 [GRCh38] ChrX:153990735 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.1036+330del	deletion	not provided [RCV001656713]	ChrX:154771188 [GRCh38] ChrX:153999463 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.16+202C>T	single nucleotide variant	not provided [RCV001722858]	ChrX:154763183 [GRCh38] ChrX:153991458 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.449-55A>T	single nucleotide variant	not provided [RCV001722859]	ChrX:154766942 [GRCh38] ChrX:153995217 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.*97A>G	single nucleotide variant	not provided [RCV001722860]	ChrX:154776964 [GRCh38] ChrX:154005239 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001363.5(DKC1):c.641-163C>T	single nucleotide variant	not provided [RCV001611566]	ChrX:154768139 [GRCh38] ChrX:153996414 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.1195G>C (p.Asp399His)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV001172399]	ChrX:154774641 [GRCh38] ChrX:154002916 [GRCh37] ChrX:Xq28	likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	copy number loss	Intellectual disability [RCV001249592]	ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28	likely pathogenic
NM_001363.5(DKC1):c.1457G>A (p.Gly486Glu)	single nucleotide variant	Dyskeratosis congenita [RCV001233511]	ChrX:154776305 [GRCh38] ChrX:154004580 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1352G>A (p.Ser451Asn)	single nucleotide variant	Dyskeratosis congenita [RCV001211636]	ChrX:154776200 [GRCh38] ChrX:154004475 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.64T>G (p.Leu22Val)	single nucleotide variant	Dyskeratosis congenita [RCV001041206]	ChrX:154764946 [GRCh38] ChrX:153993221 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.640+3G>A	single nucleotide variant	Dyskeratosis congenita [RCV001205000]	ChrX:154767385 [GRCh38] ChrX:153995660 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	copy number loss	not provided [RCV001259012]	ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	copy number loss	See cases [RCV002285075]	ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
NM_001363.5(DKC1):c.41A>G (p.Lys14Arg)	single nucleotide variant	Dyskeratosis congenita [RCV001313757]	ChrX:154764923 [GRCh38] ChrX:153993198 [GRCh37] ChrX:Xq28	conflicting interpretations of pathogenicity\|uncertain significance
NM_001363.5(DKC1):c.315G>A (p.Val105=)	single nucleotide variant	Dyskeratosis congenita [RCV001397089]	ChrX:154766267 [GRCh38] ChrX:153994542 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.568G>A (p.Val190Ile)	single nucleotide variant	Dyskeratosis congenita [RCV001301810]	ChrX:154767310 [GRCh38] ChrX:153995585 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.332G>A (p.Arg111Gln)	single nucleotide variant	Dyskeratosis congenita [RCV001361097]	ChrX:154766284 [GRCh38] ChrX:153994559 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.84C>T (p.Ala28=)	single nucleotide variant	DKC1-related disorder [RCV004035214]\|Dyskeratosis congenita [RCV001326733]\|not provided [RCV003438741]\|not specified [RCV005236805]	ChrX:154764966 [GRCh38] ChrX:153993241 [GRCh37] ChrX:Xq28	likely benign\|uncertain significance
NM_001363.5(DKC1):c.1471G>A (p.Asp491Asn)	single nucleotide variant	DKC1-related disorder [RCV004034159]\|Dyskeratosis congenita [RCV001308200]	ChrX:154776319 [GRCh38] ChrX:154004594 [GRCh37] ChrX:Xq28	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001363.5(DKC1):c.1373C>G (p.Thr458Ser)	single nucleotide variant	Dyskeratosis congenita [RCV001295032]	ChrX:154776221 [GRCh38] ChrX:154004496 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.915+8C>T	single nucleotide variant	DKC1-related disorder [RCV004037951]\|Dyskeratosis congenita [RCV001520287]\|not provided [RCV003438860]	ChrX:154769318 [GRCh38] ChrX:153997593 [GRCh37] ChrX:Xq28	benign\|likely benign
NM_001363.5(DKC1):c.540A>G (p.Leu180=)	single nucleotide variant	Dyskeratosis congenita [RCV001469772]	ChrX:154767282 [GRCh38] ChrX:153995557 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.969T>C (p.Tyr323=)	single nucleotide variant	Dyskeratosis congenita [RCV001446949]	ChrX:154770812 [GRCh38] ChrX:153999087 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1036+328_1036+330del	deletion	not provided [RCV001653093]	ChrX:154771188..154771190 [GRCh38] ChrX:153999463..153999465 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1179C>A (p.Ile393=)	single nucleotide variant	Dyskeratosis congenita [RCV001495859]	ChrX:154774625 [GRCh38] ChrX:154002900 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.771+13G>A	single nucleotide variant	Dyskeratosis congenita [RCV001511452]\|not provided [RCV004714223]	ChrX:154768445 [GRCh38] ChrX:153996720 [GRCh37] ChrX:Xq28	benign
NC_000023.10:g.(?_152014869)_(155171615_?)del	deletion	3-Methylglutaconic aciduria type 2 [RCV003119101]\|Adrenoleukodystrophy [RCV003119100]\|Creatine transporter deficiency [RCV003119103]\|Heterotopia, periventricular, X-linked dominant [RCV003109218]\|Spastic paraplegia [RCV003109219]\|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102]	ChrX:152014869..155171615 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.916-271_916-270dup	duplication	not provided [RCV001732899]	ChrX:154770467..154770468 [GRCh38] ChrX:153998742..153998743 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.277A>T (p.Asn93Tyr)	single nucleotide variant	Dyskeratosis congenita [RCV002032803]\|not provided [RCV001752144]	ChrX:154766229 [GRCh38] ChrX:153994504 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1429AAG[1] (p.Lys478del)	microsatellite	Dyskeratosis congenita, X-linked [RCV001732878]\|not provided [RCV002477911]	ChrX:154776277..154776279 [GRCh38] ChrX:154004552..154004554 [GRCh37] ChrX:Xq28	uncertain significance\|no classifications from unflagged records
NM_001363.5(DKC1):c.1091C>G (p.Ala364Gly)	single nucleotide variant	Dyskeratosis congenita [RCV003530205]\|not provided [RCV001771259]	ChrX:154773185 [GRCh38] ChrX:154001460 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.55C>G (p.Arg19Gly)	single nucleotide variant	not provided [RCV001816562]	ChrX:154764937 [GRCh38] ChrX:153993212 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1225C>T (p.Pro409Ser)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV002052166]	ChrX:154774671 [GRCh38] ChrX:154002946 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1387C>A (p.Pro463Thr)	single nucleotide variant	Dyskeratosis congenita [RCV001911101]	ChrX:154776235 [GRCh38] ChrX:154004510 [GRCh37] ChrX:Xq28	uncertain significance
NC_000023.11:g.(154612552_154656872)_(156005236_156038495)del	deletion	not provided [RCV001839140]	ChrX:154656872..156005236 [GRCh38] ChrX:Xq28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	not provided [RCV001829212]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001363.5(DKC1):c.204C>G (p.His68Gln)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV001845042]	ChrX:154765939 [GRCh38] ChrX:153994214 [GRCh37] ChrX:Xq28	likely pathogenic
NC_000023.10:g.(?_153991100)_(153993815_?)dup	duplication	Dyskeratosis congenita [RCV002006401]	ChrX:153991100..153993815 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.55C>T (p.Arg19Trp)	single nucleotide variant	Dyskeratosis congenita [RCV001926468]	ChrX:154764937 [GRCh38] ChrX:153993212 [GRCh37] ChrX:Xq28	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001363.5(DKC1):c.1006A>G (p.Ile336Val)	single nucleotide variant	Dyskeratosis congenita [RCV001921009]	ChrX:154770849 [GRCh38] ChrX:153999124 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1318G>A (p.Glu440Lys)	single nucleotide variant	Dyskeratosis congenita [RCV001897841]\|Dyskeratosis congenita, X-linked [RCV003154211]	ChrX:154775253 [GRCh38] ChrX:154003528 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1338+13C>T	single nucleotide variant	Dyskeratosis congenita [RCV001992344]	ChrX:154775286 [GRCh38] ChrX:154003561 [GRCh37] ChrX:Xq28	likely benign
NC_000023.10:g.(?_153688524)_(155171615_?)del	deletion	not provided [RCV002011857]	ChrX:153688524..155171615 [GRCh37] ChrX:Xq28	uncertain significance
NC_000023.10:g.(?_153991100)_(154005142_?)dup	duplication	Dyskeratosis congenita [RCV001900473]	ChrX:153991100..154005142 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.448+18G>A	single nucleotide variant	Dyskeratosis congenita [RCV002209057]	ChrX:154766418 [GRCh38] ChrX:153994693 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.538T>C (p.Leu180=)	single nucleotide variant	Dyskeratosis congenita [RCV002086158]\|not provided [RCV005232834]	ChrX:154767280 [GRCh38] ChrX:153995555 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1155+20G>A	single nucleotide variant	Dyskeratosis congenita [RCV002111476]\|not provided [RCV004704738]	ChrX:154773269 [GRCh38] ChrX:154001544 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.449-13T>C	single nucleotide variant	Dyskeratosis congenita [RCV002145849]	ChrX:154766984 [GRCh38] ChrX:153995259 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1476+11A>G	single nucleotide variant	Dyskeratosis congenita [RCV002207995]	ChrX:154776335 [GRCh38] ChrX:154004610 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.172-12G>A	single nucleotide variant	Dyskeratosis congenita [RCV002186184]	ChrX:154765895 [GRCh38] ChrX:153994170 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.916-15dup	duplication	Dyskeratosis congenita [RCV002085986]	ChrX:154770742..154770743 [GRCh38] ChrX:153999017..153999018 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1476+13A>G	single nucleotide variant	Dyskeratosis congenita [RCV002190402]	ChrX:154776337 [GRCh38] ChrX:154004612 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.96C>T (p.His32=)	single nucleotide variant	Dyskeratosis congenita [RCV002208143]	ChrX:154765455 [GRCh38] ChrX:153993730 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.915+17G>A	single nucleotide variant	Dyskeratosis congenita [RCV002102610]	ChrX:154769327 [GRCh38] ChrX:153997602 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.263+16A>G	single nucleotide variant	Dyskeratosis congenita [RCV002220247]	ChrX:154766014 [GRCh38] ChrX:153994289 [GRCh37] ChrX:Xq28	likely benign
Single allele	deletion	Immunodeficiency 33 [RCV002247742]\|Splenomegaly [RCV002247743]	ChrX:153427468..156004919 [GRCh38] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.449-10C>G	single nucleotide variant	Dyskeratosis congenita [RCV002098109]	ChrX:154766987 [GRCh38] ChrX:153995262 [GRCh37] ChrX:Xq28	likely benign
NC_000023.10:g.(?_153001546)_(154563736_?)dup	duplication	Adrenoleukodystrophy [RCV003119108]	ChrX:153001546..154563736 [GRCh37] ChrX:Xq28	uncertain significance
NC_000023.10:g.(?_152014869)_(154563736_?)del	deletion	Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]\|Dyskeratosis congenita [RCV003105406]\|not provided [RCV003105407]	ChrX:152014869..154563736 [GRCh37] ChrX:Xq28	pathogenic\|uncertain significance\|no classifications from unflagged records
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number gain	46,XX sex reversal 1 [RCV002280665]\|Hypotonia [RCV002280667]\|Trisomy X syndrome [RCV002280666]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001363.5(DKC1):c.16+402G>A	single nucleotide variant	not provided [RCV002279080]	ChrX:154763383 [GRCh38] ChrX:153991658 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	copy number loss	See cases [RCV002292203]	ChrX:142401540..155233731 [GRCh37] ChrX:Xq27.3-28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	copy number loss	Turner syndrome [RCV002280672]	ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xq28(chrX:153868487-154071392)x2	copy number gain	not provided [RCV002473719]	ChrX:153868487..154071392 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:153613883-155233731)x2	copy number gain	not provided [RCV002472481]	ChrX:153613883..155233731 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.345G>A (p.Val115=)	single nucleotide variant	Dyskeratosis congenita [RCV004048570]	ChrX:154766297 [GRCh38] ChrX:153994572 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.75A>T (p.Glu25Asp)	single nucleotide variant	Dyskeratosis congenita [RCV002302281]	ChrX:154764957 [GRCh38] ChrX:153993232 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.263+11G>A	single nucleotide variant	Dyskeratosis congenita [RCV002994632]	ChrX:154766009 [GRCh38] ChrX:153994284 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1476+14C>T	single nucleotide variant	Dyskeratosis congenita [RCV002755012]	ChrX:154776338 [GRCh38] ChrX:154004613 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1037-19C>T	single nucleotide variant	Dyskeratosis congenita [RCV003034532]	ChrX:154773112 [GRCh38] ChrX:154001387 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1156-16C>G	single nucleotide variant	Dyskeratosis congenita [RCV002914435]	ChrX:154774586 [GRCh38] ChrX:154002861 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.974A>G (p.Asp325Gly)	single nucleotide variant	Pulmonary fibrosis [RCV002509786]	ChrX:154770817 [GRCh38] ChrX:153999092 [GRCh37] ChrX:Xq28	likely risk allele
NM_001363.5(DKC1):c.993G>T (p.Gln331His)	single nucleotide variant	Dyskeratosis congenita [RCV002591626]	ChrX:154770836 [GRCh38] ChrX:153999111 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.421C>A (p.Arg141Ser)	single nucleotide variant	Dyskeratosis congenita [RCV003035662]	ChrX:154766373 [GRCh38] ChrX:153994648 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.641-9G>T	single nucleotide variant	Dyskeratosis congenita [RCV003036228]	ChrX:154768293 [GRCh38] ChrX:153996568 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1339-13G>A	single nucleotide variant	Dyskeratosis congenita [RCV002785575]	ChrX:154776174 [GRCh38] ChrX:154004449 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1356G>A (p.Glu452=)	single nucleotide variant	Dyskeratosis congenita [RCV002780227]	ChrX:154776204 [GRCh38] ChrX:154004479 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.916-12C>G	single nucleotide variant	Dyskeratosis congenita [RCV002851629]	ChrX:154770747 [GRCh38] ChrX:153999022 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.59A>G (p.Lys20Arg)	single nucleotide variant	Dyskeratosis congenita [RCV002644250]	ChrX:154764941 [GRCh38] ChrX:153993216 [GRCh37] ChrX:Xq28	likely benign\|uncertain significance
NM_001363.5(DKC1):c.84+19G>T	single nucleotide variant	Dyskeratosis congenita [RCV002595642]	ChrX:154764985 [GRCh38] ChrX:153993260 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.449-17C>T	single nucleotide variant	Dyskeratosis congenita [RCV002963114]	ChrX:154766980 [GRCh38] ChrX:153995255 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.147G>A (p.Thr49=)	single nucleotide variant	Dyskeratosis congenita [RCV002900488]	ChrX:154765506 [GRCh38] ChrX:153993781 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.772-9G>A	single nucleotide variant	Dyskeratosis congenita [RCV003063387]	ChrX:154769158 [GRCh38] ChrX:153997433 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.62C>T (p.Ser21Leu)	single nucleotide variant	Dyskeratosis congenita [RCV002962035]	ChrX:154764944 [GRCh38] ChrX:153993219 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1338+15G>C	single nucleotide variant	Dyskeratosis congenita [RCV002895883]	ChrX:154775288 [GRCh38] ChrX:154003563 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1404G>A (p.Lys468=)	single nucleotide variant	Dyskeratosis congenita [RCV003066557]	ChrX:154776252 [GRCh38] ChrX:154004527 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.771+12G>A	single nucleotide variant	Dyskeratosis congenita [RCV003050781]	ChrX:154768444 [GRCh38] ChrX:153996719 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1304C>T (p.Pro435Leu)	single nucleotide variant	Dyskeratosis congenita [RCV003068674]\|Dyskeratosis congenita, X-linked [RCV005208192]	ChrX:154775239 [GRCh38] ChrX:154003514 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1339-19C>T	single nucleotide variant	Dyskeratosis congenita [RCV002588110]	ChrX:154776168 [GRCh38] ChrX:154004443 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1445G>T (p.Gly482Val)	single nucleotide variant	Dyskeratosis congenita [RCV004255751]	ChrX:154776293 [GRCh38] ChrX:154004568 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1036+19T>G	single nucleotide variant	Dyskeratosis congenita [RCV003874495]	ChrX:154770898 [GRCh38] ChrX:153999173 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.329G>A (p.Arg110Gln)	single nucleotide variant	DKC1-related disorder [RCV004362833]	ChrX:154766281 [GRCh38] ChrX:153994556 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	copy number loss	not provided [RCV003483930]	ChrX:119071609..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
NM_001363.5(DKC1):c.1141G>A (p.Gly381Ser)	single nucleotide variant	DKC1-related disorder [RCV004362818]\|not provided [RCV004593287]	ChrX:154773235 [GRCh38] ChrX:154001510 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1259+7dup	duplication	Dyskeratosis congenita [RCV003530723]	ChrX:154774709..154774710 [GRCh38] ChrX:154002984..154002985 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.576G>A (p.Arg192=)	single nucleotide variant	Dyskeratosis congenita [RCV003530847]	ChrX:154767318 [GRCh38] ChrX:153995593 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1066T>C (p.Ser356Pro)	single nucleotide variant	Dyskeratosis congenita [RCV003530972]	ChrX:154773160 [GRCh38] ChrX:154001435 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1059G>C (p.Ala353=)	single nucleotide variant	Dyskeratosis congenita [RCV003530860]	ChrX:154773153 [GRCh38] ChrX:154001428 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.243A>G (p.Arg81=)	single nucleotide variant	Dyskeratosis congenita [RCV003530883]	ChrX:154765978 [GRCh38] ChrX:153994253 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.252G>A (p.Gly84=)	single nucleotide variant	Dyskeratosis congenita [RCV003530799]	ChrX:154765987 [GRCh38] ChrX:153994262 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.448+19G>A	single nucleotide variant	Dyskeratosis congenita [RCV003530811]	ChrX:154766419 [GRCh38] ChrX:153994694 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.420T>C (p.Thr140=)	single nucleotide variant	Dyskeratosis congenita [RCV003647097]	ChrX:154766372 [GRCh38] ChrX:153994647 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.498G>A (p.Gly166=)	single nucleotide variant	Dyskeratosis congenita [RCV003827699]	ChrX:154767046 [GRCh38] ChrX:153995321 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.514-14G>T	single nucleotide variant	Dyskeratosis congenita [RCV003530825]	ChrX:154767242 [GRCh38] ChrX:153995517 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.16+18C>G	single nucleotide variant	Dyskeratosis congenita [RCV003529810]	ChrX:154762999 [GRCh38] ChrX:153991274 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.498G>C (p.Gly166=)	single nucleotide variant	Dyskeratosis congenita [RCV003529812]	ChrX:154767046 [GRCh38] ChrX:153995321 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.16+8C>T	single nucleotide variant	Dyskeratosis congenita [RCV003877332]	ChrX:154762989 [GRCh38] ChrX:153991264 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1155+15del	deletion	Dyskeratosis congenita [RCV003530556]	ChrX:154773262 [GRCh38] ChrX:154001537 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.640+8A>C	single nucleotide variant	Dyskeratosis congenita [RCV003529863]	ChrX:154767390 [GRCh38] ChrX:153995665 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.207T>C (p.Tyr69=)	single nucleotide variant	Dyskeratosis congenita [RCV003530697]	ChrX:154765942 [GRCh38] ChrX:153994217 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.1462G>A (p.Glu488Lys)	single nucleotide variant	Dyskeratosis congenita [RCV003530446]	ChrX:154776310 [GRCh38] ChrX:154004585 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.513+20G>A	single nucleotide variant	Dyskeratosis congenita [RCV003646082]	ChrX:154767081 [GRCh38] ChrX:153995356 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.709T>C (p.Leu237=)	single nucleotide variant	Dyskeratosis congenita [RCV003829233]	ChrX:154768370 [GRCh38] ChrX:153996645 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1281_1310del (p.Val431_Glu440del)	deletion	Dyskeratosis congenita [RCV003646828]	ChrX:154775212..154775241 [GRCh38] ChrX:154003487..154003516 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.88A>G (p.Ile30Val)	single nucleotide variant	Dyskeratosis congenita [RCV003646905]	ChrX:154765447 [GRCh38] ChrX:153993722 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1477-14_1477-11del	deletion	Dyskeratosis congenita [RCV003646242]	ChrX:154776784..154776787 [GRCh38] ChrX:154005059..154005062 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1473T>C (p.Asp491=)	single nucleotide variant	Dyskeratosis congenita [RCV003646425]	ChrX:154776321 [GRCh38] ChrX:154004596 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1338+18C>G	single nucleotide variant	Dyskeratosis congenita [RCV003647024]	ChrX:154775291 [GRCh38] ChrX:154003566 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.641-19_641-18del	deletion	Dyskeratosis congenita [RCV003646477]	ChrX:154768281..154768282 [GRCh38] ChrX:153996556..153996557 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.99T>C (p.Ala33=)	single nucleotide variant	Dyskeratosis congenita [RCV003646600]	ChrX:154765458 [GRCh38] ChrX:153993733 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.264-14T>C	single nucleotide variant	Dyskeratosis congenita [RCV003646637]	ChrX:154766202 [GRCh38] ChrX:153994477 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1477-20T>C	single nucleotide variant	Dyskeratosis congenita [RCV003646006]	ChrX:154776779 [GRCh38] ChrX:154005054 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.42G>A (p.Lys14=)	single nucleotide variant	Dyskeratosis congenita [RCV003647055]	ChrX:154764924 [GRCh38] ChrX:153993199 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.263+20A>C	single nucleotide variant	Dyskeratosis congenita [RCV003647052]	ChrX:154766018 [GRCh38] ChrX:153994293 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.772-10del	deletion	Dyskeratosis congenita [RCV003880091]	ChrX:154769157 [GRCh38] ChrX:153997432 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1477-10T>C	single nucleotide variant	Dyskeratosis congenita [RCV003876884]	ChrX:154776789 [GRCh38] ChrX:154005064 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.172-12G>C	single nucleotide variant	Dyskeratosis congenita [RCV003646346]	ChrX:154765895 [GRCh38] ChrX:153994170 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.867G>A (p.Leu289=)	single nucleotide variant	Dyskeratosis congenita [RCV003646352]	ChrX:154769262 [GRCh38] ChrX:153997537 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.546G>A (p.Gln182=)	single nucleotide variant	Dyskeratosis congenita [RCV003646390]	ChrX:154767288 [GRCh38] ChrX:153995563 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.17-9T>A	single nucleotide variant	Dyskeratosis congenita [RCV003646679]	ChrX:154764890 [GRCh38] ChrX:153993165 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.17-7T>A	single nucleotide variant	Dyskeratosis congenita [RCV003647070]	ChrX:154764892 [GRCh38] ChrX:153993167 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.513+12A>G	single nucleotide variant	Dyskeratosis congenita [RCV003646561]	ChrX:154767073 [GRCh38] ChrX:153995348 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.17-16G>T	single nucleotide variant	Dyskeratosis congenita [RCV003646599]	ChrX:154764883 [GRCh38] ChrX:153993158 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.897G>A (p.Leu299=)	single nucleotide variant	Dyskeratosis congenita [RCV003645997]	ChrX:154769292 [GRCh38] ChrX:153997567 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1373C>T (p.Thr458Ile)	single nucleotide variant	Dyskeratosis congenita [RCV003646829]	ChrX:154776221 [GRCh38] ChrX:154004496 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1188C>T (p.Gly396=)	single nucleotide variant	Dyskeratosis congenita [RCV003645999]	ChrX:154774634 [GRCh38] ChrX:154002909 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.211C>T (p.Pro71Ser)	single nucleotide variant	Dyskeratosis congenita [RCV003646166]	ChrX:154765946 [GRCh38] ChrX:153994221 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.916-11C>T	single nucleotide variant	Dyskeratosis congenita [RCV003646340]	ChrX:154770748 [GRCh38] ChrX:153999023 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.772-9G>C	single nucleotide variant	Dyskeratosis congenita [RCV003531019]	ChrX:154769158 [GRCh38] ChrX:153997433 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.84+13G>C	single nucleotide variant	Dyskeratosis congenita [RCV003531036]	ChrX:154764979 [GRCh38] ChrX:153993254 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1302C>T (p.Ala434=)	single nucleotide variant	Dyskeratosis congenita [RCV003531296]	ChrX:154775237 [GRCh38] ChrX:154003512 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.514-4T>G	single nucleotide variant	Dyskeratosis congenita [RCV003531032]	ChrX:154767252 [GRCh38] ChrX:153995527 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.189T>C (p.Asn63=)	single nucleotide variant	Dyskeratosis congenita [RCV003836761]	ChrX:154765924 [GRCh38] ChrX:153994199 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.984G>A (p.Glu328=)	single nucleotide variant	Dyskeratosis congenita [RCV003854821]	ChrX:154770827 [GRCh38] ChrX:153999102 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.16+11C>T	single nucleotide variant	Dyskeratosis congenita [RCV003838766]	ChrX:154762992 [GRCh38] ChrX:153991267 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1143T>G (p.Gly381=)	single nucleotide variant	Dyskeratosis congenita [RCV003531146]	ChrX:154773237 [GRCh38] ChrX:154001512 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.219A>G (p.Ala73=)	single nucleotide variant	Dyskeratosis congenita [RCV003837791]	ChrX:154765954 [GRCh38] ChrX:153994229 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.171+16C>G	single nucleotide variant	Dyskeratosis congenita [RCV003531009]	ChrX:154765546 [GRCh38] ChrX:153993821 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.690T>C (p.Cys230=)	single nucleotide variant	Dyskeratosis congenita [RCV003531131]	ChrX:154768351 [GRCh38] ChrX:153996626 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.621C>T (p.Tyr207=)	single nucleotide variant	Dyskeratosis congenita [RCV003860397]	ChrX:154767363 [GRCh38] ChrX:153995638 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.684A>G (p.Thr228=)	single nucleotide variant	Dyskeratosis congenita [RCV003861074]	ChrX:154768345 [GRCh38] ChrX:153996620 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.12G>A (p.Ala4=)	single nucleotide variant	Dyskeratosis congenita [RCV003869403]	ChrX:154762977 [GRCh38] ChrX:153991252 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.816G>C (p.Leu272=)	single nucleotide variant	Dyskeratosis congenita [RCV003871845]	ChrX:154769211 [GRCh38] ChrX:153997486 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.16+10G>T	single nucleotide variant	Dyskeratosis congenita [RCV003869123]	ChrX:154762991 [GRCh38] ChrX:153991266 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	copy number loss	not specified [RCV003986202]	ChrX:103405294..155233731 [GRCh37] ChrX:Xq22.2-28	pathogenic
NM_001363.5(DKC1):c.843C>T (p.Tyr281=)	single nucleotide variant	Dyskeratosis congenita [RCV003845180]	ChrX:154769238 [GRCh38] ChrX:153997513 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.778A>G (p.Met260Val)	single nucleotide variant	Dyskeratosis congenita [RCV003857767]	ChrX:154769173 [GRCh38] ChrX:153997448 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	copy number loss	not provided [RCV004442761]	ChrX:121656905..155233098 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	copy number loss	See cases [RCV004442781]	ChrX:125253445..155233098 [GRCh37] ChrX:Xq25-28	pathogenic
NM_001363.5(DKC1):c.257A>G (p.Tyr86Cys)	single nucleotide variant	Dyskeratosis congenita [RCV004375947]	ChrX:154765992 [GRCh38] ChrX:153994267 [GRCh37] ChrX:Xq28	uncertain significance
NC_000023.10:g.(?_152954030)_(154005142_?)del	deletion	3-Methylglutaconic aciduria type 2 [RCV004582960]\|Adrenoleukodystrophy [RCV004582961]\|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV004582959]\|Creatine transporter deficiency [RCV004582962]\|Dyskeratosis congenita [RCV004582964]\|Spastic paraplegia [RCV004582965]\|X-linked Emery-Dreifuss muscular dystrophy [RCV004582963]	ChrX:152954030..154005142 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.1487C>G (p.Thr496Ser)	single nucleotide variant	not provided [RCV004588822]	ChrX:154776809 [GRCh38] ChrX:154005084 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1496A>G (p.Lys499Arg)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV004594761]	ChrX:154776818 [GRCh38] ChrX:154005093 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.871A>G (p.Lys291Glu)	single nucleotide variant	not provided [RCV004697528]	ChrX:154769266 [GRCh38] ChrX:153997541 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1024G>A (p.Ala342Thr)	single nucleotide variant	not provided [RCV004770759]	ChrX:154770867 [GRCh38] ChrX:153999142 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.901A>G (p.Met301Val)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV005041716]	ChrX:154769296 [GRCh38] ChrX:153997571 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.771+15G>T	single nucleotide variant	Dyskeratosis congenita [RCV005068215]	ChrX:154768447 [GRCh38] ChrX:153996722 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1037-8G>A	single nucleotide variant	Dyskeratosis congenita [RCV005176128]	ChrX:154773123 [GRCh38] ChrX:154001398 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.166C>G (p.Leu56Val)	single nucleotide variant	Dyskeratosis congenita [RCV005063871]	ChrX:154765525 [GRCh38] ChrX:153993800 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.180T>C (p.Asp60=)	single nucleotide variant	Dyskeratosis congenita [RCV005189822]	ChrX:154765915 [GRCh38] ChrX:153994190 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.159C>A (p.Pro53=)	single nucleotide variant	Dyskeratosis congenita [RCV005155208]	ChrX:154765518 [GRCh38] ChrX:153993793 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1339-10T>G	single nucleotide variant	Dyskeratosis congenita [RCV005118852]	ChrX:154776177 [GRCh38] ChrX:154004452 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.288G>A (p.Lys96=)	single nucleotide variant	Dyskeratosis congenita [RCV005082000]	ChrX:154766240 [GRCh38] ChrX:153994515 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.113T>G (p.Ile38Ser)	single nucleotide variant	Dyskeratosis congenita [RCV005144592]	ChrX:154765472 [GRCh38] ChrX:153993747 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.171+11A>G	single nucleotide variant	Dyskeratosis congenita [RCV005193724]	ChrX:154765541 [GRCh38] ChrX:153993816 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1155+15G>A	single nucleotide variant	Dyskeratosis congenita [RCV005189989]	ChrX:154773264 [GRCh38] ChrX:154001539 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.601G>C (p.Glu201Gln)	single nucleotide variant	Dyskeratosis congenita [RCV005142168]	ChrX:154767343 [GRCh38] ChrX:153995618 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.531A>G (p.Thr177=)	single nucleotide variant	Dyskeratosis congenita [RCV005079476]	ChrX:154767273 [GRCh38] ChrX:153995548 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1508dup (p.Lys504fs)	duplication	Dyskeratosis congenita [RCV005083683]	ChrX:154776828..154776829 [GRCh38] ChrX:154005103..154005104 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1284T>A (p.Val428=)	single nucleotide variant	Dyskeratosis congenita [RCV005150707]	ChrX:154775219 [GRCh38] ChrX:154003494 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1054A>C (p.Thr352Pro)	single nucleotide variant	not provided [RCV005417307]	ChrX:154773148 [GRCh38] ChrX:154001423 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1376C>T (p.Pro459Leu)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV005413377]	ChrX:154776224 [GRCh38] ChrX:154004499 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.354A>C (p.Thr118=)	single nucleotide variant	Dyskeratosis congenita [RCV002933270]	ChrX:154766306 [GRCh38] ChrX:153994581 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.244G>C (p.Glu82Gln)	single nucleotide variant	Dyskeratosis congenita [RCV003007392]	ChrX:154765979 [GRCh38] ChrX:153994254 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1338+3G>C	single nucleotide variant	Dyskeratosis congenita [RCV002958273]	ChrX:154775276 [GRCh38] ChrX:154003551 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.749G>A (p.Arg250His)	single nucleotide variant	Dyskeratosis congenita [RCV004124974]	ChrX:154768410 [GRCh38] ChrX:153996685 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1477-8C>G	single nucleotide variant	Dyskeratosis congenita [RCV002582192]	ChrX:154776791 [GRCh38] ChrX:154005066 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1293_1295del (p.Val432del)	deletion	Dyskeratosis congenita [RCV002898694]	ChrX:154775226..154775228 [GRCh38] ChrX:154003501..154003503 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.763A>G (p.Ser255Gly)	single nucleotide variant	Dyskeratosis congenita [RCV002649832]	ChrX:154768424 [GRCh38] ChrX:153996699 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.882A>G (p.Thr294=)	single nucleotide variant	Dyskeratosis congenita [RCV003089544]	ChrX:154769277 [GRCh38] ChrX:153997552 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1338+14T>C	single nucleotide variant	Dyskeratosis congenita [RCV002654386]	ChrX:154775287 [GRCh38] ChrX:154003562 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.514-10T>G	single nucleotide variant	Dyskeratosis congenita [RCV002609833]	ChrX:154767246 [GRCh38] ChrX:153995521 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1275_1277del (p.Glu426del)	deletion	Dyskeratosis congenita [RCV002588137]	ChrX:154775209..154775211 [GRCh38] ChrX:154003484..154003486 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.300C>G (p.Pro100=)	single nucleotide variant	Dyskeratosis congenita [RCV003066735]	ChrX:154766252 [GRCh38] ChrX:153994527 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1240C>G (p.Gln414Glu)	single nucleotide variant	Dyskeratosis congenita [RCV004614414]\|Dyskeratosis congenita, X-linked [RCV003154608]\|Dyskeratosis congenita, X-linked [RCV005047441]\|Hoyeraal-Hreidarsson syndrome [RCV003447648]	ChrX:154774686 [GRCh38] ChrX:154002961 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.796G>A (p.Val266Met)	single nucleotide variant	not provided [RCV003323182]	ChrX:154769191 [GRCh38] ChrX:153997466 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.197C>T (p.Thr66Ile)	single nucleotide variant	not provided [RCV003327251]	ChrX:154765932 [GRCh38] ChrX:153994207 [GRCh37] ChrX:Xq28	likely pathogenic
NM_001363.5(DKC1):c.1298A>G (p.Lys433Arg)	single nucleotide variant	not provided [RCV003332839]	ChrX:154775233 [GRCh38] ChrX:154003508 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.114C>G (p.Ile38Met)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV003445289]	ChrX:154765473 [GRCh38] ChrX:153993748 [GRCh37] ChrX:Xq28	likely pathogenic
GRCh37/hg19 Xq28(chrX:153826261-154401171)x2	copy number gain	not provided [RCV003483992]	ChrX:153826261..154401171 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:153792456-154110373)x3	copy number gain	not provided [RCV003485334]	ChrX:153792456..154110373 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2	copy number gain	not provided [RCV003483986]	ChrX:152916854..154775938 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.1214C>T (p.Thr405Ile)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV003444448]\|not provided [RCV004818343]	ChrX:154774660 [GRCh38] ChrX:154002935 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	copy number loss	not provided [RCV003483936]	ChrX:148598351..154943978 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	copy number loss	not provided [RCV003483929]	ChrX:118576752..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
NM_001363.5(DKC1):c.199A>G (p.Thr67Ala)	single nucleotide variant	DKC1-related disorder [RCV004362780]	ChrX:154765934 [GRCh38] ChrX:153994209 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.438A>G (p.Gln146=)	single nucleotide variant	Dyskeratosis congenita [RCV003645962]\|not provided [RCV003436887]	ChrX:154766390 [GRCh38] ChrX:153994665 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.964C>T (p.Arg322Ter)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV003459971]	ChrX:154770807 [GRCh38] ChrX:153999082 [GRCh37] ChrX:Xq28	likely pathogenic
NM_001363.5(DKC1):c.1037-13T>A	single nucleotide variant	Dyskeratosis congenita [RCV003530447]	ChrX:154773118 [GRCh38] ChrX:154001393 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1194G>A (p.Leu398=)	single nucleotide variant	Dyskeratosis congenita [RCV003646569]	ChrX:154774640 [GRCh38] ChrX:154002915 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1479C>T (p.Asp493=)	single nucleotide variant	Dyskeratosis congenita [RCV003646582]	ChrX:154776801 [GRCh38] ChrX:154005076 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1338+10A>T	single nucleotide variant	Dyskeratosis congenita [RCV003530505]	ChrX:154775283 [GRCh38] ChrX:154003558 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.514-18_514-15del	deletion	Dyskeratosis congenita [RCV003530628]	ChrX:154767238..154767241 [GRCh38] ChrX:153995513..153995516 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.591G>A (p.Arg197=)	single nucleotide variant	Dyskeratosis congenita [RCV003530630]	ChrX:154767333 [GRCh38] ChrX:153995608 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.417C>T (p.Ala139=)	single nucleotide variant	Dyskeratosis congenita [RCV003530757]	ChrX:154766369 [GRCh38] ChrX:153994644 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1156-13G>A	single nucleotide variant	Dyskeratosis congenita [RCV003646796]	ChrX:154774589 [GRCh38] ChrX:154002864 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1531T>C (p.Leu511=)	single nucleotide variant	Dyskeratosis congenita [RCV003646914]	ChrX:154776853 [GRCh38] ChrX:154005128 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.999T>C (p.Ile333=)	single nucleotide variant	Dyskeratosis congenita [RCV003529878]	ChrX:154770842 [GRCh38] ChrX:153999117 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.84+16T>A	single nucleotide variant	Dyskeratosis congenita [RCV003530652]	ChrX:154764982 [GRCh38] ChrX:153993257 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1260-11C>T	single nucleotide variant	Dyskeratosis congenita [RCV003530661]	ChrX:154775184 [GRCh38] ChrX:154003459 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1164G>A (p.Gln388=)	single nucleotide variant	Dyskeratosis congenita [RCV003530800]	ChrX:154774610 [GRCh38] ChrX:154002885 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1477-13T>G	single nucleotide variant	Dyskeratosis congenita [RCV003530801]	ChrX:154776786 [GRCh38] ChrX:154005061 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.421C>T (p.Arg141Cys)	single nucleotide variant	Dyskeratosis congenita [RCV003530663]\|not provided [RCV004723361]	ChrX:154766373 [GRCh38] ChrX:153994648 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.915+19G>A	single nucleotide variant	Dyskeratosis congenita [RCV003646158]	ChrX:154769329 [GRCh38] ChrX:153997604 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1294G>T (p.Val432Leu)	single nucleotide variant	Dyskeratosis congenita [RCV003646882]	ChrX:154775229 [GRCh38] ChrX:154003504 [GRCh37] ChrX:Xq28	likely benign\|conflicting interpretations of pathogenicity
NM_001363.5(DKC1):c.1037-20T>C	single nucleotide variant	Dyskeratosis congenita [RCV003647083]	ChrX:154773111 [GRCh38] ChrX:154001386 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.513+19G>A	single nucleotide variant	Dyskeratosis congenita [RCV003647118]	ChrX:154767080 [GRCh38] ChrX:153995355 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.84+15dup	duplication	Dyskeratosis congenita [RCV003646549]	ChrX:154764980..154764981 [GRCh38] ChrX:153993255..153993256 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1339-8C>T	single nucleotide variant	Dyskeratosis congenita [RCV003647146]	ChrX:154776179 [GRCh38] ChrX:154004454 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.84+8del	deletion	Dyskeratosis congenita [RCV003646001]	ChrX:154764974 [GRCh38] ChrX:153993249 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1368C>T (p.Asp456=)	single nucleotide variant	Dyskeratosis congenita [RCV003646009]	ChrX:154776216 [GRCh38] ChrX:154004491 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.579G>A (p.Gln193=)	single nucleotide variant	Dyskeratosis congenita [RCV003647218]	ChrX:154767321 [GRCh38] ChrX:153995596 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1477-28_1477-18del	deletion	Dyskeratosis congenita [RCV003647231]	ChrX:154776769..154776779 [GRCh38] ChrX:154005044..154005054 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.263+7G>T	single nucleotide variant	Dyskeratosis congenita [RCV003646457]	ChrX:154766005 [GRCh38] ChrX:153994280 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.67C>A (p.Pro23Thr)	single nucleotide variant	Dyskeratosis congenita [RCV003529815]	ChrX:154764949 [GRCh38] ChrX:153993224 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1328A>C (p.Lys443Thr)	single nucleotide variant	Dyskeratosis congenita [RCV003646174]	ChrX:154775263 [GRCh38] ChrX:154003538 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.448+19G>C	single nucleotide variant	Dyskeratosis congenita [RCV003646083]	ChrX:154766419 [GRCh38] ChrX:153994694 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.548G>A (p.Arg183Gln)	single nucleotide variant	Dyskeratosis congenita [RCV003879007]	ChrX:154767290 [GRCh38] ChrX:153995565 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.739C>A (p.Arg247=)	single nucleotide variant	Dyskeratosis congenita [RCV003646225]	ChrX:154768400 [GRCh38] ChrX:153996675 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.930C>T (p.Cys310=)	single nucleotide variant	Dyskeratosis congenita [RCV003646887]	ChrX:154770773 [GRCh38] ChrX:153999048 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.516C>T (p.Ala172=)	single nucleotide variant	Dyskeratosis congenita [RCV003646904]	ChrX:154767258 [GRCh38] ChrX:153995533 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.669C>T (p.Gly223=)	single nucleotide variant	Dyskeratosis congenita [RCV003646977]	ChrX:154768330 [GRCh38] ChrX:153996605 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.771+12G>T	single nucleotide variant	Dyskeratosis congenita [RCV003646507]	ChrX:154768444 [GRCh38] ChrX:153996719 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1269C>T (p.Ala423=)	single nucleotide variant	Dyskeratosis congenita [RCV003646513]	ChrX:154775204 [GRCh38] ChrX:154003479 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.448+19G>T	single nucleotide variant	Dyskeratosis congenita [RCV003647109]	ChrX:154766419 [GRCh38] ChrX:153994694 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.171+16C>T	single nucleotide variant	Dyskeratosis congenita [RCV003646995]	ChrX:154765546 [GRCh38] ChrX:153993821 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1260-12C>T	single nucleotide variant	Dyskeratosis congenita [RCV003646555]	ChrX:154775183 [GRCh38] ChrX:154003458 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.513+7_513+8del	deletion	Dyskeratosis congenita [RCV003647016]	ChrX:154767067..154767068 [GRCh38] ChrX:153995342..153995343 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.906A>G (p.Lys302=)	single nucleotide variant	Dyskeratosis congenita [RCV003646953]	ChrX:154769301 [GRCh38] ChrX:153997576 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.172-18_172-14del	microsatellite	Dyskeratosis congenita [RCV003646949]	ChrX:154765883..154765887 [GRCh38] ChrX:153994158..153994162 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.475C>T (p.Leu159=)	single nucleotide variant	Dyskeratosis congenita [RCV003827603]	ChrX:154767023 [GRCh38] ChrX:153995298 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.771+16del	deletion	Dyskeratosis congenita [RCV003646404]	ChrX:154768448 [GRCh38] ChrX:153996723 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.5_7del (p.Ala2del)	deletion	Dyskeratosis congenita [RCV003646411]	ChrX:154762968..154762970 [GRCh38] ChrX:153991243..153991245 [GRCh37] ChrX:Xq28	pathogenic
NM_001363.5(DKC1):c.1477-10_1477-9del	deletion	Dyskeratosis congenita [RCV003646487]	ChrX:154776788..154776789 [GRCh38] ChrX:154005063..154005064 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1339-20A>C	single nucleotide variant	Dyskeratosis congenita [RCV003647168]	ChrX:154776167 [GRCh38] ChrX:154004442 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1233C>T (p.Thr411=)	single nucleotide variant	Dyskeratosis congenita [RCV003647222]	ChrX:154774679 [GRCh38] ChrX:154002954 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1156-17C>T	single nucleotide variant	Dyskeratosis congenita [RCV003647229]	ChrX:154774585 [GRCh38] ChrX:154002860 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1020A>G (p.Gly340=)	single nucleotide variant	Dyskeratosis congenita [RCV003646910]	ChrX:154770863 [GRCh38] ChrX:153999138 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.936G>A (p.Gly312=)	single nucleotide variant	Dyskeratosis congenita [RCV003646916]	ChrX:154770779 [GRCh38] ChrX:153999054 [GRCh37] ChrX:Xq28	benign
NM_001363.5(DKC1):c.17-16G>A	single nucleotide variant	Dyskeratosis congenita [RCV003646079]	ChrX:154764883 [GRCh38] ChrX:153993158 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.753T>A (p.Ser251=)	single nucleotide variant	Dyskeratosis congenita [RCV003531085]	ChrX:154768414 [GRCh38] ChrX:153996689 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.171+17G>A	single nucleotide variant	Dyskeratosis congenita [RCV003531339]	ChrX:154765547 [GRCh38] ChrX:153993822 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.795T>C (p.Asp265=)	single nucleotide variant	Dyskeratosis congenita [RCV003852350]	ChrX:154769190 [GRCh38] ChrX:153997465 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.894G>T (p.Arg298=)	single nucleotide variant	Dyskeratosis congenita [RCV003530994]	ChrX:154769289 [GRCh38] ChrX:153997564 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1156-10G>A	single nucleotide variant	Dyskeratosis congenita [RCV003531016]	ChrX:154774592 [GRCh38] ChrX:154002867 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1036+13G>A	single nucleotide variant	Dyskeratosis congenita [RCV003851528]	ChrX:154770892 [GRCh38] ChrX:153999167 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.772-15A>G	single nucleotide variant	Dyskeratosis congenita [RCV003531355]	ChrX:154769152 [GRCh38] ChrX:153997427 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.85-18A>G	single nucleotide variant	Dyskeratosis congenita [RCV003531388]	ChrX:154765426 [GRCh38] ChrX:153993701 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.90A>C (p.Ile30=)	single nucleotide variant	Dyskeratosis congenita [RCV003531017]	ChrX:154765449 [GRCh38] ChrX:153993724 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1065C>A (p.Ile355=)	single nucleotide variant	Dyskeratosis congenita [RCV003531173]	ChrX:154773159 [GRCh38] ChrX:154001434 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1171C>T (p.Leu391=)	single nucleotide variant	Dyskeratosis congenita [RCV003851654]	ChrX:154774617 [GRCh38] ChrX:154002892 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.264-10T>C	single nucleotide variant	Dyskeratosis congenita [RCV003844469]	ChrX:154766206 [GRCh38] ChrX:153994481 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	copy number loss	not specified [RCV003986220]	ChrX:119395676..154930047 [GRCh37] ChrX:Xq24-28	pathogenic
NM_001363.5(DKC1):c.448+11G>A	single nucleotide variant	Dyskeratosis congenita [RCV003868323]\|not provided [RCV004703335]	ChrX:154766411 [GRCh38] ChrX:153994686 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1259+8C>T	single nucleotide variant	Dyskeratosis congenita [RCV003845844]	ChrX:154774713 [GRCh38] ChrX:154002988 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.1398C>G (p.Ile466Met)	single nucleotide variant	Dyskeratosis congenita [RCV003853207]	ChrX:154776246 [GRCh38] ChrX:154004521 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	copy number gain	not provided [RCV003885530]	ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28	pathogenic
NM_001363.5(DKC1):c.691G>A (p.Val231Met)	single nucleotide variant	Hoyeraal-Hreidarsson syndrome [RCV003985183]	ChrX:154768352 [GRCh38] ChrX:153996627 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.641-18TG[4]	microsatellite	DKC1-related disorder [RCV004369774]	ChrX:154768284..154768285 [GRCh38] ChrX:153996559..153996560 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.16+7G>A	single nucleotide variant	DKC1-related disorder [RCV004369882]	ChrX:154762988 [GRCh38] ChrX:153991263 [GRCh37] ChrX:Xq28	likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	copy number gain	Klinefelter syndrome [RCV004579655]	ChrX:2757837..156030895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
NM_001363.5(DKC1):c.1120G>A (p.Asp374Asn)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV004595317]	ChrX:154773214 [GRCh38] ChrX:154001489 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1232C>T (p.Thr411Ile)	single nucleotide variant	Dyskeratosis congenita [RCV004616481]	ChrX:154774678 [GRCh38] ChrX:154002953 [GRCh37] ChrX:Xq28	uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup	duplication	Hereditary factor VIII deficiency disease [RCV004768478]	ChrX:54610638..154689386 [GRCh37] ChrX:Xp11.22-q28	uncertain significance
NM_001363.5(DKC1):c.1396A>G (p.Ile466Val)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV005049811]	ChrX:154776244 [GRCh38] ChrX:154004519 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.880A>G (p.Thr294Ala)	single nucleotide variant	Dyskeratosis congenita [RCV004822716]	ChrX:154769275 [GRCh38] ChrX:153997550 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq27.3-28(chrX:145075197-155233731)x1	copy number loss	not provided [RCV004819417]	ChrX:145075197..155233731 [GRCh37] ChrX:Xq27.3-28	pathogenic
NM_001363.5(DKC1):c.352A>C (p.Thr118Pro)	single nucleotide variant	Dyskeratosis congenita, X-linked [RCV005041715]	ChrX:154766304 [GRCh38] ChrX:153994579 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1348G>A (p.Glu450Lys)	single nucleotide variant	not provided [RCV005227548]	ChrX:154776196 [GRCh38] ChrX:154004471 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.514-12G>A	single nucleotide variant	Dyskeratosis congenita [RCV005158754]	ChrX:154767244 [GRCh38] ChrX:153995519 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.580C>A (p.Leu194Ile)	single nucleotide variant	Dyskeratosis congenita [RCV005120853]	ChrX:154767322 [GRCh38] ChrX:153995597 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.666T>A (p.Ala222=)	single nucleotide variant	Dyskeratosis congenita [RCV005206811]	ChrX:154768327 [GRCh38] ChrX:153996602 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1332T>C (p.Thr444=)	single nucleotide variant	Dyskeratosis congenita [RCV005083156]	ChrX:154775267 [GRCh38] ChrX:154003542 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.771+11del	deletion	Dyskeratosis congenita [RCV005188934]	ChrX:154768443 [GRCh38] ChrX:153996718 [GRCh37] ChrX:Xq28	likely benign
NM_001363.5(DKC1):c.50A>G (p.Lys17Arg)	single nucleotide variant	Dyskeratosis congenita [RCV005204625]	ChrX:154764932 [GRCh38] ChrX:153993207 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1339-3C>T	single nucleotide variant	Dyskeratosis congenita [RCV005194172]	ChrX:154776184 [GRCh38] ChrX:154004459 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.515C>T (p.Ala172Val)	single nucleotide variant	Dyskeratosis congenita [RCV005194215]	ChrX:154767257 [GRCh38] ChrX:153995532 [GRCh37] ChrX:Xq28	uncertain significance
NM_001363.5(DKC1):c.1165A>C (p.Lys389Gln)	single nucleotide variant	Dyskeratosis congenita [RCV005130257]	ChrX:154774611 [GRCh38] ChrX:154002886 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq26.3-28(chrX:134810076-155258261)x1	copy number loss	Partial deletion of the long arm of chromosome X [RCV005251466]	ChrX:134810076..155258261 [GRCh37] ChrX:Xq26.3-28	pathogenic

miRNA Target Status (No longer updated)

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR150	hsa-miR-150-5p	OncomiRDB	external_info	NA	NA	21502955

Predicted Target Of

	Summary Value
Count of predictions:	2360
Count of miRNA genes:	1154
Interacting mature miRNAs:	1420
Transcripts:	ENST00000369550, ENST00000412124, ENST00000413910, ENST00000426673, ENST00000437719, ENST00000452771, ENST00000473552, ENST00000475423, ENST00000475966, ENST00000481062, ENST00000484317, ENST00000492372
Prediction methods:	Microtar, Miranda, Pita, Pita,Targetscan, 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
407403848	GWAS1052824_H	obsolete_red blood cell distribution width QTL GWAS1052824 (human)		1e-09	obsolete_red blood cell distribution width		X	154775429	154775430	Human
597437245	GWAS1533319_H	Red cell distribution width QTL GWAS1533319 (human)		1e-09	erythrocyte size trait (VT:0000248)	red blood cell distribution width- standard deviation (CMO:0003232)	X	154775429	154775430	Human
596974711	GWAS1094230_H	pyruvate measurement QTL GWAS1094230 (human)		8e-28	pyruvate measurement		X	154769420	154769421	Human
597500128	GWAS1596202_H	pyruvate measurement QTL GWAS1596202 (human)		8e-28	blood pyruvate amount (VT:0010617)	blood pyruvate level (CMO:0002422)	X	154769420	154769421	Human
596975754	GWAS1095273_H	Red cell distribution width QTL GWAS1095273 (human)		1e-09	Red cell distribution width		X	154775429	154775430	Human

Markers in Region

A004F19

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,005,656 - 154,005,943	UniSTS	GRCh37
Build 36	X	153,658,850 - 153,659,137	RGD	NCBI36
Celera	X	154,164,219 - 154,164,506	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,549,016 - 142,549,303	UniSTS
GeneMap99-GB4 RH Map	X	354.15	UniSTS

ECD00413

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,993,088 - 153,993,996	UniSTS	GRCh37
Build 36	X	153,646,282 - 153,647,190	RGD	NCBI36
Celera	X	154,151,653 - 154,152,561	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,536,741 - 142,537,649	UniSTS

ECD06413

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,002,283 - 154,002,992	UniSTS	GRCh37
Build 36	X	153,655,477 - 153,656,186	RGD	NCBI36
Celera	X	154,160,846 - 154,161,555	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,545,644 - 142,546,353	UniSTS

ECD06938

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,003,770 - 154,004,465	UniSTS	GRCh37
Build 36	X	153,656,964 - 153,657,659	RGD	NCBI36
Celera	X	154,162,333 - 154,163,028	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,547,131 - 142,547,826	UniSTS

ECD07325

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,003,031 - 154,003,715	UniSTS	GRCh37
Build 36	X	153,656,225 - 153,656,909	RGD	NCBI36
Celera	X	154,161,594 - 154,162,278	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,546,392 - 142,547,076	UniSTS

ECD08242

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,000,886 - 154,001,546	UniSTS	GRCh37
Build 36	X	153,654,080 - 153,654,740	RGD	NCBI36
Celera	X	154,159,449 - 154,160,109	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,544,341 - 142,545,001	UniSTS

ECD09694

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,994,818 - 153,995,440	UniSTS	GRCh37
Build 36	X	153,648,012 - 153,648,634	RGD	NCBI36
Celera	X	154,153,383 - 154,154,005	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,538,471 - 142,539,093	UniSTS

ECD09953

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,994,099 - 153,994,714	UniSTS	GRCh37
Build 36	X	153,647,293 - 153,647,908	RGD	NCBI36
Celera	X	154,152,664 - 154,153,279	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,537,752 - 142,538,367	UniSTS

ECD10168

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,995,466 - 153,996,075	UniSTS	GRCh37
Build 36	X	153,648,660 - 153,649,269	RGD	NCBI36
Celera	X	154,154,031 - 154,154,640	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,539,119 - 142,539,728	UniSTS

ECD11313

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,997,863 - 153,998,439	UniSTS	GRCh37
Build 36	X	153,651,057 - 153,651,633	RGD	NCBI36
Celera	X	154,156,426 - 154,157,002	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,541,316 - 142,541,892	UniSTS

ECD11405

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,990,700 - 153,991,273	UniSTS	GRCh37
Build 36	X	153,643,894 - 153,644,467	RGD	NCBI36
Celera	X	154,149,265 - 154,149,838	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,534,262 - 142,534,835	UniSTS

ECD11985

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,005,699 - 154,006,255	UniSTS	GRCh37
Build 36	X	153,658,893 - 153,659,449	RGD	NCBI36
Celera	X	154,164,262 - 154,164,818	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,549,059 - 142,549,615	UniSTS

ECD13062

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,005,149 - 154,005,676	UniSTS	GRCh37
Build 36	X	153,658,343 - 153,658,870	RGD	NCBI36
Celera	X	154,163,712 - 154,164,239	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,548,510 - 142,549,036	UniSTS

ECD14101

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,996,477 - 153,996,978	UniSTS	GRCh37
Build 36	X	153,649,671 - 153,650,172	RGD	NCBI36
Celera	X	154,155,041 - 154,155,542	RGD
Cytogenetic Map	X	q28	UniSTS

ECD15062

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,991,388 - 153,991,867	UniSTS	GRCh37
Build 36	X	153,644,582 - 153,645,061	RGD	NCBI36
Celera	X	154,149,953 - 154,150,432	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,534,950 - 142,535,429	UniSTS

ECD15063

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,004,609 - 154,005,088	UniSTS	GRCh37
Build 36	X	153,657,803 - 153,658,282	RGD	NCBI36
Celera	X	154,163,172 - 154,163,651	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,547,970 - 142,548,449	UniSTS

ECD18018

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,998,774 - 153,999,150	UniSTS	GRCh37
Build 36	X	153,651,968 - 153,652,344	RGD	NCBI36
Celera	X	154,157,337 - 154,157,713	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,542,228 - 142,542,604	UniSTS

ECD18896

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,997,302 - 153,997,645	UniSTS	GRCh37
Build 36	X	153,650,496 - 153,650,839	RGD	NCBI36
Celera	X	154,155,865 - 154,156,208	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,540,755 - 142,541,098	UniSTS

REN90571

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,989,045 - 153,989,296	UniSTS	GRCh37
Build 36	X	153,642,239 - 153,642,490	RGD	NCBI36
Celera	X	154,147,611 - 154,147,862	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,532,713 - 142,532,964	UniSTS

REN90572

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,989,288 - 153,989,514	UniSTS	GRCh37
Build 36	X	153,642,482 - 153,642,708	RGD	NCBI36
Celera	X	154,147,854 - 154,148,080	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,532,956 - 142,533,182	UniSTS

REN90573

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,989,492 - 153,989,758	UniSTS	GRCh37
Build 36	X	153,642,686 - 153,642,952	RGD	NCBI36
Celera	X	154,148,058 - 154,148,324	RGD
Cytogenetic Map	X	q28	UniSTS

REN90574

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,989,735 - 153,989,984	UniSTS	GRCh37
Build 36	X	153,642,929 - 153,643,178	RGD	NCBI36
Celera	X	154,148,301 - 154,148,550	RGD
Cytogenetic Map	X	q28	UniSTS

REN90575

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,989,959 - 153,990,210	UniSTS	GRCh37
Build 36	X	153,643,153 - 153,643,404	RGD	NCBI36
Celera	X	154,148,525 - 154,148,776	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,533,522 - 142,533,773	UniSTS

REN90576

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,990,187 - 153,990,456	UniSTS	GRCh37
Build 36	X	153,643,381 - 153,643,650	RGD	NCBI36
Celera	X	154,148,753 - 154,149,022	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,533,750 - 142,534,019	UniSTS

REN90577

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,990,436 - 153,990,701	UniSTS	GRCh37
Build 36	X	153,643,630 - 153,643,895	RGD	NCBI36
Celera	X	154,149,002 - 154,149,266	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,533,999 - 142,534,263	UniSTS

REN90578

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,990,678 - 153,990,909	UniSTS	GRCh37
Build 36	X	153,643,872 - 153,644,103	RGD	NCBI36
Celera	X	154,149,243 - 154,149,474	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,534,240 - 142,534,471	UniSTS

REN90579

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,990,774 - 153,991,023	UniSTS	GRCh37
Build 36	X	153,643,968 - 153,644,217	RGD	NCBI36
Celera	X	154,149,339 - 154,149,588	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,534,336 - 142,534,585	UniSTS

REN90580

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,991,033 - 153,991,265	UniSTS	GRCh37
Build 36	X	153,644,227 - 153,644,459	RGD	NCBI36
Celera	X	154,149,598 - 154,149,830	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,534,595 - 142,534,827	UniSTS

REN90581

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,991,232 - 153,991,498	UniSTS	GRCh37
Build 36	X	153,644,426 - 153,644,692	RGD	NCBI36
Celera	X	154,149,797 - 154,150,063	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,534,794 - 142,535,060	UniSTS

REN90582

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,991,452 - 153,991,697	UniSTS	GRCh37
Build 36	X	153,644,646 - 153,644,891	RGD	NCBI36
Celera	X	154,150,017 - 154,150,262	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,535,014 - 142,535,259	UniSTS

REN90583

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,991,689 - 153,991,941	UniSTS	GRCh37
Build 36	X	153,644,883 - 153,645,135	RGD	NCBI36
Celera	X	154,150,254 - 154,150,506	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,535,251 - 142,535,503	UniSTS

REN90584

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,991,918 - 153,992,169	UniSTS	GRCh37
Build 36	X	153,645,112 - 153,645,363	RGD	NCBI36
Celera	X	154,150,483 - 154,150,734	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,535,480 - 142,535,731	UniSTS

REN90585

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,992,049 - 153,992,307	UniSTS	GRCh37
Build 36	X	153,645,243 - 153,645,501	RGD	NCBI36
Celera	X	154,150,614 - 154,150,872	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,535,611 - 142,535,869	UniSTS

REN90586

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,992,344 - 153,992,576	UniSTS	GRCh37
Build 36	X	153,645,538 - 153,645,770	RGD	NCBI36
Celera	X	154,150,909 - 154,151,141	RGD
Cytogenetic Map	X	q28	UniSTS

REN90587

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,992,552 - 153,992,813	UniSTS	GRCh37
Build 36	X	153,645,746 - 153,646,007	RGD	NCBI36
Celera	X	154,151,117 - 154,151,378	RGD
Cytogenetic Map	X	q28	UniSTS

REN90588

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,992,804 - 153,993,042	UniSTS	GRCh37
Build 36	X	153,645,998 - 153,646,236	RGD	NCBI36
Celera	X	154,151,369 - 154,151,607	RGD
Cytogenetic Map	X	q28	UniSTS

REN90589

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,993,036 - 153,993,261	UniSTS	GRCh37
Build 36	X	153,646,230 - 153,646,455	RGD	NCBI36
Celera	X	154,151,601 - 154,151,826	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,536,689 - 142,536,914	UniSTS

REN90590

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,993,238 - 153,993,484	UniSTS	GRCh37
Build 36	X	153,646,432 - 153,646,678	RGD	NCBI36
Celera	X	154,151,803 - 154,152,049	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,536,891 - 142,537,137	UniSTS

REN90591

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,993,449 - 153,993,697	UniSTS	GRCh37
Build 36	X	153,646,643 - 153,646,891	RGD	NCBI36
Celera	X	154,152,014 - 154,152,262	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,537,102 - 142,537,350	UniSTS

REN90592

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,993,676 - 153,993,932	UniSTS	GRCh37
Build 36	X	153,646,870 - 153,647,126	RGD	NCBI36
Celera	X	154,152,241 - 154,152,497	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,537,329 - 142,537,585	UniSTS

REN90593

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,993,915 - 153,994,162	UniSTS	GRCh37
Build 36	X	153,647,109 - 153,647,356	RGD	NCBI36
Celera	X	154,152,480 - 154,152,727	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,537,568 - 142,537,815	UniSTS

REN90594

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,994,158 - 153,994,407	UniSTS	GRCh37
Build 36	X	153,647,352 - 153,647,601	RGD	NCBI36
Celera	X	154,152,723 - 154,152,972	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,537,811 - 142,538,060	UniSTS

REN90595

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,994,386 - 153,994,634	UniSTS	GRCh37
Build 36	X	153,647,580 - 153,647,828	RGD	NCBI36
Celera	X	154,152,951 - 154,153,199	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,538,039 - 142,538,287	UniSTS

REN90596

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,994,616 - 153,994,840	UniSTS	GRCh37
Build 36	X	153,647,810 - 153,648,034	RGD	NCBI36
Celera	X	154,153,181 - 154,153,405	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,538,269 - 142,538,493	UniSTS

REN90597

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,994,827 - 153,995,076	UniSTS	GRCh37
Build 36	X	153,648,021 - 153,648,270	RGD	NCBI36
Celera	X	154,153,392 - 154,153,641	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,538,480 - 142,538,729	UniSTS

REN90598

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,995,071 - 153,995,296	UniSTS	GRCh37
Build 36	X	153,648,265 - 153,648,490	RGD	NCBI36
Celera	X	154,153,636 - 154,153,861	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,538,724 - 142,538,949	UniSTS

REN90599

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,995,272 - 153,995,535	UniSTS	GRCh37
Build 36	X	153,648,466 - 153,648,729	RGD	NCBI36
Celera	X	154,153,837 - 154,154,100	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,538,925 - 142,539,188	UniSTS

REN90600

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,995,527 - 153,995,761	UniSTS	GRCh37
Build 36	X	153,648,721 - 153,648,955	RGD	NCBI36
Celera	X	154,154,092 - 154,154,326	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,539,180 - 142,539,414	UniSTS

REN90601

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,995,760 - 153,995,995	UniSTS	GRCh37
Build 36	X	153,648,954 - 153,649,189	RGD	NCBI36
Celera	X	154,154,325 - 154,154,560	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,539,413 - 142,539,648	UniSTS

REN90602

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,995,865 - 153,996,089	UniSTS	GRCh37
Build 36	X	153,649,059 - 153,649,283	RGD	NCBI36
Celera	X	154,154,430 - 154,154,654	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,539,518 - 142,539,742	UniSTS

REN90603

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,996,422 - 153,996,656	UniSTS	GRCh37
Build 36	X	153,649,616 - 153,649,850	RGD	NCBI36
Celera	X	154,154,986 - 154,155,220	RGD
Cytogenetic Map	X	q28	UniSTS

REN90604

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,996,650 - 153,996,897	UniSTS	GRCh37
Build 36	X	153,649,844 - 153,650,091	RGD	NCBI36
Celera	X	154,155,214 - 154,155,461	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,540,103 - 142,540,350	UniSTS

REN90605

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,996,745 - 153,996,985	UniSTS	GRCh37
Build 36	X	153,649,939 - 153,650,179	RGD	NCBI36
Celera	X	154,155,309 - 154,155,549	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,540,198 - 142,540,438	UniSTS

REN90606

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,997,300 - 153,997,531	UniSTS	GRCh37
Build 36	X	153,650,494 - 153,650,725	RGD	NCBI36
Celera	X	154,155,863 - 154,156,094	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,540,753 - 142,540,984	UniSTS

REN90607

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,997,523 - 153,997,762	UniSTS	GRCh37
Build 36	X	153,650,717 - 153,650,956	RGD	NCBI36
Celera	X	154,156,086 - 154,156,325	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,540,976 - 142,541,215	UniSTS

REN90608

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,997,623 - 153,997,884	UniSTS	GRCh37
Build 36	X	153,650,817 - 153,651,078	RGD	NCBI36
Celera	X	154,156,186 - 154,156,447	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,541,076 - 142,541,337	UniSTS

REN90609

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,997,862 - 153,998,109	UniSTS	GRCh37
Build 36	X	153,651,056 - 153,651,303	RGD	NCBI36
Celera	X	154,156,425 - 154,156,672	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,541,315 - 142,541,562	UniSTS

REN90610

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,998,086 - 153,998,333	UniSTS	GRCh37
Build 36	X	153,651,280 - 153,651,527	RGD	NCBI36
Celera	X	154,156,649 - 154,156,896	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,541,539 - 142,541,786	UniSTS

REN90611

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,998,224 - 153,998,471	UniSTS	GRCh37
Build 36	X	153,651,418 - 153,651,665	RGD	NCBI36
Celera	X	154,156,787 - 154,157,034	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,541,677 - 142,541,924	UniSTS

REN90612

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,998,710 - 153,998,935	UniSTS	GRCh37
Build 36	X	153,651,904 - 153,652,129	RGD	NCBI36
Celera	X	154,157,273 - 154,157,498	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,542,163 - 142,542,389	UniSTS

REN90613

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,998,907 - 153,999,161	UniSTS	GRCh37
Build 36	X	153,652,101 - 153,652,355	RGD	NCBI36
Celera	X	154,157,470 - 154,157,724	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,542,361 - 142,542,615	UniSTS

REN90614

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,999,063 - 153,999,299	UniSTS	GRCh37
Build 36	X	153,652,257 - 153,652,493	RGD	NCBI36
Celera	X	154,157,626 - 154,157,862	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,542,517 - 142,542,753	UniSTS

REN90615

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,999,276 - 153,999,512	UniSTS	GRCh37
Build 36	X	153,652,470 - 153,652,706	RGD	NCBI36
Celera	X	154,157,839 - 154,158,075	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,542,730 - 142,542,966	UniSTS

REN90616

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,999,872 - 154,000,139	UniSTS	GRCh37
Build 36	X	153,653,066 - 153,653,333	RGD	NCBI36
Celera	X	154,158,435 - 154,158,702	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,543,327 - 142,543,594	UniSTS

REN90617

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,000,118 - 154,000,389	UniSTS	GRCh37
Build 36	X	153,653,312 - 153,653,583	RGD	NCBI36
Celera	X	154,158,681 - 154,158,952	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,543,573 - 142,543,844	UniSTS

REN90618

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,000,353 - 154,000,582	UniSTS	GRCh37
Build 36	X	153,653,547 - 153,653,776	RGD	NCBI36
Celera	X	154,158,916 - 154,159,145	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,543,808 - 142,544,037	UniSTS

REN90619

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,000,679 - 154,000,909	UniSTS	GRCh37
Build 36	X	153,653,873 - 153,654,103	RGD	NCBI36
Celera	X	154,159,242 - 154,159,472	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,544,134 - 142,544,364	UniSTS

REN90620

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,000,886 - 154,001,137	UniSTS	GRCh37
Build 36	X	153,654,080 - 153,654,331	RGD	NCBI36
Celera	X	154,159,449 - 154,159,700	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,544,341 - 142,544,592	UniSTS

REN90621

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,001,114 - 154,001,353	UniSTS	GRCh37
Build 36	X	153,654,308 - 153,654,547	RGD	NCBI36
Celera	X	154,159,677 - 154,159,916	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,544,569 - 142,544,808	UniSTS

REN90622

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,001,317 - 154,001,541	UniSTS	GRCh37
Build 36	X	153,654,511 - 153,654,735	RGD	NCBI36
Celera	X	154,159,880 - 154,160,104	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,544,772 - 142,544,996	UniSTS

REN90623

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,002,242 - 154,002,466	UniSTS	GRCh37
GRCh37	X	154,001,546 - 154,002,466	UniSTS	GRCh37
Build 36	X	153,655,436 - 153,655,660	RGD	NCBI36
Celera	X	154,160,109 - 154,161,029	UniSTS
Celera	X	154,160,805 - 154,161,029	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,545,603 - 142,545,827	UniSTS
HuRef	X	142,545,001 - 142,545,827	UniSTS

REN90624

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,002,459 - 154,002,714	UniSTS	GRCh37
Build 36	X	153,655,653 - 153,655,908	RGD	NCBI36
Celera	X	154,161,022 - 154,161,277	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,545,820 - 142,546,075	UniSTS

REN90625

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,002,705 - 154,002,953	UniSTS	GRCh37
Build 36	X	153,655,899 - 153,656,147	RGD	NCBI36
Celera	X	154,161,268 - 154,161,516	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,546,066 - 142,546,314	UniSTS

REN90626

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,002,952 - 154,003,206	UniSTS	GRCh37
Build 36	X	153,656,146 - 153,656,400	RGD	NCBI36
Celera	X	154,161,515 - 154,161,769	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,546,313 - 142,546,567	UniSTS

REN90627

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,003,205 - 154,003,430	UniSTS	GRCh37
Build 36	X	153,656,399 - 153,656,624	RGD	NCBI36
Celera	X	154,161,768 - 154,161,993	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,546,566 - 142,546,791	UniSTS

REN90628

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,003,407 - 154,003,661	UniSTS	GRCh37
Build 36	X	153,656,601 - 153,656,855	RGD	NCBI36
Celera	X	154,161,970 - 154,162,224	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,546,768 - 142,547,022	UniSTS

REN90629

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,003,642 - 154,003,900	UniSTS	GRCh37
Build 36	X	153,656,836 - 153,657,094	RGD	NCBI36
Celera	X	154,162,205 - 154,162,463	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,547,003 - 142,547,261	UniSTS

REN90630

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,003,889 - 154,004,154	UniSTS	GRCh37
Build 36	X	153,657,083 - 153,657,348	RGD	NCBI36
Celera	X	154,162,452 - 154,162,717	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,547,250 - 142,547,515	UniSTS

REN90631

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,004,131 - 154,004,378	UniSTS	GRCh37
Build 36	X	153,657,325 - 153,657,572	RGD	NCBI36
Celera	X	154,162,694 - 154,162,941	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,547,492 - 142,547,739	UniSTS

REN90632

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,004,354 - 154,004,613	UniSTS	GRCh37
Build 36	X	153,657,548 - 153,657,807	RGD	NCBI36
Celera	X	154,162,917 - 154,163,176	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,547,715 - 142,547,974	UniSTS

REN90633

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,004,602 - 154,004,866	UniSTS	GRCh37
Build 36	X	153,657,796 - 153,658,060	RGD	NCBI36
Celera	X	154,163,165 - 154,163,429	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,547,963 - 142,548,227	UniSTS

REN90634

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,004,843 - 154,005,096	UniSTS	GRCh37
Build 36	X	153,658,037 - 153,658,290	RGD	NCBI36
Celera	X	154,163,406 - 154,163,659	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,548,204 - 142,548,457	UniSTS

REN90635

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,005,073 - 154,005,329	UniSTS	GRCh37
Build 36	X	153,658,267 - 153,658,523	RGD	NCBI36
Celera	X	154,163,636 - 154,163,892	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,548,434 - 142,548,689	UniSTS

REN90636

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,005,327 - 154,005,553	UniSTS	GRCh37
Build 36	X	153,658,521 - 153,658,747	RGD	NCBI36
Celera	X	154,163,890 - 154,164,116	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,548,687 - 142,548,913	UniSTS

REN90637

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,005,526 - 154,005,778	UniSTS	GRCh37
Build 36	X	153,658,720 - 153,658,972	RGD	NCBI36
Celera	X	154,164,089 - 154,164,341	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,548,886 - 142,549,138	UniSTS

REN90638

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,005,737 - 154,005,986	UniSTS	GRCh37
Build 36	X	153,658,931 - 153,659,180	RGD	NCBI36
Celera	X	154,164,300 - 154,164,549	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,549,097 - 142,549,346	UniSTS

REN90639

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,005,962 - 154,006,223	UniSTS	GRCh37
Build 36	X	153,659,156 - 153,659,417	RGD	NCBI36
Celera	X	154,164,525 - 154,164,786	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,549,322 - 142,549,583	UniSTS

REN90640

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,006,058 - 154,006,283	UniSTS	GRCh37
Build 36	X	153,659,252 - 153,659,477	RGD	NCBI36
Celera	X	154,164,621 - 154,164,846	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,549,418 - 142,549,643	UniSTS

stSG604275

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,991,864 - 153,993,242	UniSTS	GRCh37
Build 36	X	153,645,058 - 153,646,436	RGD	NCBI36
Celera	X	154,150,429 - 154,151,807	RGD
HuRef	X	142,535,426 - 142,536,895	UniSTS

stSG604276

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,993,223 - 153,994,665	UniSTS	GRCh37
Build 36	X	153,646,417 - 153,647,859	RGD	NCBI36
Celera	X	154,151,788 - 154,153,230	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,536,876 - 142,538,318	UniSTS

stSG604279

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,996,036 - 153,997,452	UniSTS	GRCh37
Build 36	X	153,649,230 - 153,650,646	RGD	NCBI36
Celera	X	154,154,601 - 154,156,015	RGD
HuRef	X	142,539,689 - 142,540,905	UniSTS

stSG604280

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,997,445 - 153,998,852	UniSTS	GRCh37
Build 36	X	153,650,639 - 153,652,046	RGD	NCBI36
Celera	X	154,156,008 - 154,157,415	RGD
HuRef	X	142,540,898 - 142,542,306	UniSTS

stSG604281

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,998,147 - 153,999,150	UniSTS	GRCh37
Build 36	X	153,651,341 - 153,652,344	RGD	NCBI36
Celera	X	154,156,710 - 154,157,713	RGD
HuRef	X	142,541,600 - 142,542,604	UniSTS

stSG604282

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,001,020 - 154,002,293	UniSTS	GRCh37
Build 36	X	153,654,214 - 153,655,487	RGD	NCBI36
Celera	X	154,159,583 - 154,160,856	RGD
HuRef	X	142,544,475 - 142,545,654	UniSTS

stSG604284

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,003,770 - 154,004,801	UniSTS	GRCh37
Build 36	X	153,656,964 - 153,657,995	RGD	NCBI36
Celera	X	154,162,333 - 154,163,364	RGD
HuRef	X	142,547,131 - 142,548,162	UniSTS

stSG604285

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,004,822 - 154,006,145	UniSTS	GRCh37
Build 36	X	153,658,016 - 153,659,339	RGD	NCBI36
Celera	X	154,163,385 - 154,164,708	RGD
HuRef	X	142,548,183 - 142,549,505	UniSTS

IB1223

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	154,005,714 - 154,005,886	UniSTS	GRCh37
Build 36	X	153,658,908 - 153,659,080	RGD	NCBI36
Celera	X	154,164,277 - 154,164,449	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,549,074 - 142,549,246	UniSTS
GeneMap99-GB4 RH Map	X	354.15	UniSTS
Whitehead-RH Map	X	326.5	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	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_009780	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001142463	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001288747	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001363	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_110021	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_110022	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_110023	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC087225	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC109993	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF067008	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH007488	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ010395	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ010396	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ012083	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ224481	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ416347	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK307672	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009928	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC010015	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI858251	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU730947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD367400	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471172	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA429806	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB517187	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY050100	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JF279874	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC954523	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC954524	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC954525	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584614	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U59151	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000369550 ⟹ ENSP00000358563

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,864 - 154,777,689 (+)	Ensembl

Ensembl Acc Id:

ENST00000412124 ⟹ ENSP00000389304

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,767,016 - 154,776,260 (+)	Ensembl

Ensembl Acc Id:

ENST00000413910 ⟹ ENSP00000400542

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,756 - 154,777,689 (+)	Ensembl

Ensembl Acc Id:

ENST00000426673 ⟹ ENSP00000407253

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,756 - 154,777,689 (+)	Ensembl

Ensembl Acc Id:

ENST00000437719 ⟹ ENSP00000395693

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,764,927 - 154,768,358 (+)	Ensembl

Ensembl Acc Id:

ENST00000452771 ⟹ ENSP00000407325

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,764,925 - 154,769,210 (+)	Ensembl

Ensembl Acc Id:

ENST00000473552

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,913 - 154,766,555 (+)	Ensembl

Ensembl Acc Id:

ENST00000475423

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,852 - 154,765,355 (+)	Ensembl

Ensembl Acc Id:

ENST00000475966

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,768,543 - 154,776,261 (+)	Ensembl

Ensembl Acc Id:

ENST00000481062

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,773,144 - 154,775,314 (+)	Ensembl

Ensembl Acc Id:

ENST00000484317

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,767,877 - 154,777,665 (+)	Ensembl

Ensembl Acc Id:

ENST00000492372

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,774,998 - 154,777,687 (+)	Ensembl

Ensembl Acc Id:

ENST00000620277 ⟹ ENSP00000478387

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,742 - 154,777,688 (+)	Ensembl

Ensembl Acc Id:

ENST00000696575 ⟹ ENSP00000512730

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,853 - 154,777,228 (+)	Ensembl

Ensembl Acc Id:

ENST00000696576

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,864 - 154,769,474 (+)	Ensembl

Ensembl Acc Id:

ENST00000696577 ⟹ ENSP00000512731

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,864 - 154,777,613 (+)	Ensembl

Ensembl Acc Id:

ENST00000696578 ⟹ ENSP00000512732

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,864 - 154,777,663 (+)	Ensembl

Ensembl Acc Id:

ENST00000696579

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,864 - 154,777,664 (+)	Ensembl

Ensembl Acc Id:

ENST00000696580 ⟹ ENSP00000512733

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,868 - 154,777,665 (+)	Ensembl

Ensembl Acc Id:

ENST00000696581 ⟹ ENSP00000512734

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,879 - 154,777,664 (+)	Ensembl

Ensembl Acc Id:

ENST00000696582 ⟹ ENSP00000512735

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,881 - 154,777,660 (+)	Ensembl

Ensembl Acc Id:

ENST00000696583 ⟹ ENSP00000512736

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,881 - 154,777,660 (+)	Ensembl

Ensembl Acc Id:

ENST00000696584

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,919 - 154,777,161 (+)	Ensembl

Ensembl Acc Id:

ENST00000696585

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,919 - 154,777,161 (+)	Ensembl

Ensembl Acc Id:

ENST00000696586

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,919 - 154,777,161 (+)	Ensembl

Ensembl Acc Id:

ENST00000696587 ⟹ ENSP00000512737

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,951 - 154,777,663 (+)	Ensembl

Ensembl Acc Id:

ENST00000696588

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,764,239 - 154,777,664 (+)	Ensembl

Ensembl Acc Id:

ENST00000696589

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,767,887 - 154,777,663 (+)	Ensembl

Ensembl Acc Id:

ENST00000696590

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,768,038 - 154,777,664 (+)	Ensembl

Ensembl Acc Id:

ENST00000696591

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,769,047 - 154,777,660 (+)	Ensembl

Ensembl Acc Id:

ENST00000696592

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,771,216 - 154,777,674 (+)	Ensembl

Ensembl Acc Id:

ENST00000696627 ⟹ ENSP00000512764

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,913 - 154,777,689 (+)	Ensembl

Ensembl Acc Id:

ENST00000696628 ⟹ ENSP00000512765

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	154,762,915 - 154,777,684 (+)	Ensembl

RefSeq Acc Id:

NM_001142463 ⟹ NP_001135935

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	154,762,864 - 154,777,689 (+)	NCBI
GRCh37	X	153,991,031 - 154,005,964 (+)	ENTREZGENE
HuRef	X	142,534,579 - 142,549,324 (+)	NCBI
CHM1_1	X	153,902,709 - 153,917,646 (+)	NCBI
T2T-CHM13v2.0	X	152,999,274 - 153,014,101 (+)	NCBI

Sequence:

show sequence

GGGTGGGTCCTAGCAGCGCGGCCTGACGGGACCAAGGCGGCGGGAGTCTGCGGTCGTTCCCTCG
GCTGTGGACCGGGCGGCACGCACGCGGTGCAGGGTAACATGGCGGATGCGGAAGTAATTATTTT
GCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAGTCATTGCCAGAAGAAGATGTAGCCGAAATA
CAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTCAGT
GGCCCCTTTTGCTAAAGAATTTTGATAAGCTGAATGTAAGGACAACACACTATACACCTCTTGC
ATGTGGTTCAAATCCTCTGAAGAGAGAGATTGGGGACTATATCAGGACAGGTTTCATTAATCTT
GACAAGCCCTCTAACCCCTCTTCCCATGAGGTGGTAGCCTGGATTCGACGGATACTTCGGGTGG
AGAAGACAGGGCACAGTGGTACGCTGGATCCCAAGGTGACTGGTTGTTTAATCGTGTGCATAGA
ACGAGCCACTCGCTTGGTGAAGTCACAACAGAGTGCAGGCAAAGAGTATGTGGGGATTGTCCGG
CTGCACAATGCTATTGAAGGGGGGACCCAGCTTTCTAGGGCCCTAGAAACTCTGACAGGTGCCT
TATTCCAGCGACCCCCACTTATTGCTGCAGTAAAGAGGCAGCTCCGAGTGAGGACCATCTACGA
GAGCAAAATGATTGAATACGATCCTGAAAGAAGATTAGGAATCTTTTGGGTGAGTTGTGAGGCT
GGCACCTACATTCGGACATTATGTGTGCACCTTGGTTTGTTATTGGGAGTTGGTGGTCAGATGC
AGGAGCTTCGGAGGGTTCGTTCTGGAGTCATGAGTGAAAAGGACCACATGGTGACAATGCATGA
TGTGCTTGATGCTCAGTGGCTGTATGATAACCACAAGGATGAGAGTTACCTGCGGCGAGTTGTT
TACCCTTTGGAAAAGCTGTTGACATCTCATAAACGGCTGGTTATGAAAGACAGTGCAGTAAATG
CCATCTGCTATGGGGCCAAGATTATGCTTCCAGGTGTTCTTCGATATGAGGACGGCATTGAGGT
CAATCAGGAGATTGTGGTTATCACCACCAAAGGAGAAGCAATCTGCATGGCTATTGCATTAATG
ACCACAGCGGTCATCTCTACCTGCGACCATGGTATAGTAGCCAAGATCAAGAGAGTGATCATGG
AGAGAGACACTTACCCTCGGAAGTGGGGTTTAGGTCCAAAGGCAAGTCAGAAGAAGCTGATGAT
CAAGCAGGGCCTTCTGGACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAG
GATGAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAAG
CAGCAAAAACTGCGAAGCGGAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGC
TCCTCAGTTGATCAAGAAGGAAAAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTG
GAGAGCGGGGCCGAGCCTGGAGATGGGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGA
AAGCAAAAGAGGTAGAATTGGTTTCTGAGTAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTAA
AGCCTTATTGAGAAAACATGTTATAGATCCTTTTGTTGCTGAGAGAGTGGAACATAGGTCCTAG
ACAGGGTGAAGAGTTCTGGCACATTTTAGCTGCTACTTTGAGACCTCGGTGATGTTACCTGGTG
TGGTCATCCCATCTTGTCCTGTTTTAAGGATATGGGTGGTGAAAGATGAAAGAGGCAGAGTTTA
TCCCAATGACTTCTCTGTTTGAGTTGGGAAGCCTCACCTTCAGACCCAGTAACTGTCCGCAGCT
GTCTGCTAGTGGTTGTCTTAACATCGTAGTCCTAGTTTGCATTTTTTAAATCCCCTCTGTTTAA
AAGGTTTGTAAAACAAAAACAAAAAACTAAGTCTGCTCAGTGAAATGCTGTAGAACCCTAAATA
AGTGGTAGAAGAGTGTCACTGAATTTTGTCTCTGAATTCAGTATAACTGAGTTTTGTCCATGCT
GGTGTCTGGGTTATAGGCCTGATGGGCCTGGTAGTTTTCCATCTTGTTCTGGCCTAGAGGTCAG
TCCTTTGCACTTCCTCAAAGCTTGTGTACAGTGCTCACCTAAATCCATCTGACTACTTGTTCCT
GTGCCCTCTTGTTTTAGGCCTCGTTTACTTTTAAAAAATGAAATTGTTCATTGCTGGGAGAAGA
ATGTTGTAATTTTTACTTATTAAAGTCAACTTGTTAAGTTTTTTATGTATTCCTGTTGGGTTTT
CTTGTTGATCTCATGCTAGCAGAGCAAAAATTGTAAAATATTTTGATTAAAAATCTAGGGACCT
TTATGTCCTATTTGAAATGTGA

hide sequence

RefSeq Acc Id:

NM_001288747 ⟹ NP_001275676

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	154,762,864 - 154,777,689 (+)	NCBI
HuRef	X	142,534,579 - 142,549,324 (+)	NCBI
CHM1_1	X	153,902,709 - 153,917,646 (+)	NCBI
T2T-CHM13v2.0	X	152,999,274 - 153,014,101 (+)	NCBI

Sequence:

show sequence

GGGTGGGTCCTAGCAGCGCGGCCTGACGGGACCAAGGCGGCGGGAGTCTGCGGTCGTTCCCTCG
GCTGTGGACCGGGCGGCACGCACGCGGTGCAGGGTAACATGGCGGATGCGGAAGTAATTATTTT
GCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAGTCATTGCCAGAAGAAGATGTAGCCGAAATA
CAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTCAGT
GGCCCCTTTTGCTAAAGAATTTTGATAAGCTGAATGTAAGGACAACACACTATACACCTCTTGC
ATGTGGTTCAAATCCTCTGAAGAGAGAGATTGGGGACTATATCAGGACAGGTTTCATTAATCTT
GACAAGCCCTCTAACCCCTCTTCCCATGAGGTGGTAGCCTGGATTCGACGGATACTTCGGGTGG
AGAAGACAGGGCACAGTGGTACGCTGGATCCCAAGGTGACTGGTTGTTTAATCGTGTGCATAGA
ACGAGCCACTCGCTTGGTGAAGTCACAACAGAGTGCAGGCAAAGAGTATGTGGGGATTGTCCGG
CTGCACAATGCTATTGAAGGGGGGACCCAGCTTTCTAGGGCCCTAGAAACTCTGACAGGTGCCT
TATTCCAGCGACCCCCACTTATTGCTGCAGTAAAGAGGCAGCTCCGAGTGAGGACCATCTACGA
GAGCAAAATGATTGAATACGATCCTGAAAGAAGATTAGGAATCTTTTGGGTGAGTTGTGAGGCT
GGCACCTACATTCGGACATTATGTGTGCACCTTGGTTTGTTATTGGGAGTTGGTGGTCAGATGC
AGGAGCTTCGGAGGGTTCGTTCTGGAGTCATGAGTGAAAAGGACCACATGGTGACAATGCATGA
TGTGCTTGATGCTCAGTGGCTGTATGATAACCACAAGGATGAGAGTTACCTGCGGCGAGTTGTT
TACCCTTTGGAAAAGCTGTTGACATCTCATAAACGGCTGGTTATGAAAGACAGTGCAGTAAATG
CCATCTGCTATGGGGCCAAGATTATGCTTCCAGGTGTTCTTCGATATGAGGACGGCATTGAGGT
CAATCAGGAGATTGTGGTTATCACCACCAAAGGAGAAGCAATCTGCATGGCTATTGCATTAATG
ACCACAGCGGTCATCTCTACCTGCGACCATGGTATAGTAGCCAAGATCAAGAGAGTGATCATGG
AGAGAGACACTTACCCTCGGAAGTGGGGTTTAGGTCCAAAGGCAAGTCAGAAGAAGCTGATGAT
CAAGCAGGGCCTTCTGGACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAG
GAGTATGTTGACTACAGGTGAGGGCAGGATGTTTCAGAGCCGGGGTGGGTAGAGACGGCACACT
TGCTGCCTTGATGCAGGAGTATGTCAACAACAGGTGAGGATGGGAAGGTAGAGCCCACTTGCCA
TCTGGACGCAGGAGTACATGGACAACAGGTGAGGAACAGGTGAGCATGGAGGTTGTAGAGCCCA
GGGGAGGGGGAGTCACTTGGTTTGGGGCAAACTTGCTAAATGCAGGACCACAGGAACCAGCTCT
TCAGCTCCCGTGAGATTTTGGCTGCCCAGGCCAGTTAGGGGTGTGGGCCTGCACGGCAGACAGT
TATCCCTTTCTAGTCTGGCTCGTGGGACTCTAGAGGGAGTCAGTCTGCAACAGTAAGTGGTGAG
TTCTTCTGTCCAGCGTCAGTATTTTGATGGTGGCTTTAGACTTGCCAGATAACACTACATAACA
TCAGTACTGCCCTGGAAAGCCATTCAGTGAATTTGACCTATTGCTACCTCTTTTTCAGTGAGTC
TGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAAGCAGCAAAA
ACTGCGAAGCGGAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGCTCCTCAGT
TGATCAAGAAGGAAAAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTGGAGAGCGG
GGCCGAGCCTGGAGATGGGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGAAAGCAAAA
GAGGTAGAATTGGTTTCTGAGTAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTAAAGCCTTAT
TGAGAAAACATGTTATAGATCCTTTTGTTGCTGAGAGAGTGGAACATAGGTCCTAGACAGGGTG
AAGAGTTCTGGCACATTTTAGCTGCTACTTTGAGACCTCGGTGATGTTACCTGGTGTGGTCATC
CCATCTTGTCCTGTTTTAAGGATATGGGTGGTGAAAGATGAAAGAGGCAGAGTTTATCCCAATG
ACTTCTCTGTTTGAGTTGGGAAGCCTCACCTTCAGACCCAGTAACTGTCCGCAGCTGTCTGCTA
GTGGTTGTCTTAACATCGTAGTCCTAGTTTGCATTTTTTAAATCCCCTCTGTTTAAAAGGTTTG
TAAAACAAAAACAAAAAACTAAGTCTGCTCAGTGAAATGCTGTAGAACCCTAAATAAGTGGTAG
AAGAGTGTCACTGAATTTTGTCTCTGAATTCAGTATAACTGAGTTTTGTCCATGCTGGTGTCTG
GGTTATAGGCCTGATGGGCCTGGTAGTTTTCCATCTTGTTCTGGCCTAGAGGTCAGTCCTTTGC
ACTTCCTCAAAGCTTGTGTACAGTGCTCACCTAAATCCATCTGACTACTTGTTCCTGTGCCCTC
TTGTTTTAGGCCTCGTTTACTTTTAAAAAATGAAATTGTTCATTGCTGGGAGAAGAATGTTGTA
ATTTTTACTTATTAAAGTCAACTTGTTAAGTTTTTTATGTATTCCTGTTGGGTTTTCTTGTTGA
TCTCATGCTAGCAGAGCAAAAATTGTAAAATATTTTGATTAAAAATCTAGGGACCTTTATGTCC
TATTTGAAATGTGA

hide sequence

RefSeq Acc Id:

NM_001363 ⟹ NP_001354

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	154,762,864 - 154,777,689 (+)	NCBI
GRCh37	X	153,991,031 - 154,005,964 (+)	ENTREZGENE
Build 36	X	153,644,344 - 153,659,154 (+)	NCBI Archive
HuRef	X	142,534,579 - 142,549,324 (+)	NCBI
CHM1_1	X	153,902,709 - 153,917,646 (+)	NCBI
T2T-CHM13v2.0	X	152,999,274 - 153,014,101 (+)	NCBI

Sequence:

show sequence

GGGTGGGTCCTAGCAGCGCGGCCTGACGGGACCAAGGCGGCGGGAGTCTGCGGTCGTTCCCTCG
GCTGTGGACCGGGCGGCACGCACGCGGTGCAGGGTAACATGGCGGATGCGGAAGTAATTATTTT
GCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAGTCATTGCCAGAAGAAGATGTAGCCGAAATA
CAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTCAGT
GGCCCCTTTTGCTAAAGAATTTTGATAAGCTGAATGTAAGGACAACACACTATACACCTCTTGC
ATGTGGTTCAAATCCTCTGAAGAGAGAGATTGGGGACTATATCAGGACAGGTTTCATTAATCTT
GACAAGCCCTCTAACCCCTCTTCCCATGAGGTGGTAGCCTGGATTCGACGGATACTTCGGGTGG
AGAAGACAGGGCACAGTGGTACGCTGGATCCCAAGGTGACTGGTTGTTTAATCGTGTGCATAGA
ACGAGCCACTCGCTTGGTGAAGTCACAACAGAGTGCAGGCAAAGAGTATGTGGGGATTGTCCGG
CTGCACAATGCTATTGAAGGGGGGACCCAGCTTTCTAGGGCCCTAGAAACTCTGACAGGTGCCT
TATTCCAGCGACCCCCACTTATTGCTGCAGTAAAGAGGCAGCTCCGAGTGAGGACCATCTACGA
GAGCAAAATGATTGAATACGATCCTGAAAGAAGATTAGGAATCTTTTGGGTGAGTTGTGAGGCT
GGCACCTACATTCGGACATTATGTGTGCACCTTGGTTTGTTATTGGGAGTTGGTGGTCAGATGC
AGGAGCTTCGGAGGGTTCGTTCTGGAGTCATGAGTGAAAAGGACCACATGGTGACAATGCATGA
TGTGCTTGATGCTCAGTGGCTGTATGATAACCACAAGGATGAGAGTTACCTGCGGCGAGTTGTT
TACCCTTTGGAAAAGCTGTTGACATCTCATAAACGGCTGGTTATGAAAGACAGTGCAGTAAATG
CCATCTGCTATGGGGCCAAGATTATGCTTCCAGGTGTTCTTCGATATGAGGACGGCATTGAGGT
CAATCAGGAGATTGTGGTTATCACCACCAAAGGAGAAGCAATCTGCATGGCTATTGCATTAATG
ACCACAGCGGTCATCTCTACCTGCGACCATGGTATAGTAGCCAAGATCAAGAGAGTGATCATGG
AGAGAGACACTTACCCTCGGAAGTGGGGTTTAGGTCCAAAGGCAAGTCAGAAGAAGCTGATGAT
CAAGCAGGGCCTTCTGGACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAG
GAGTATGTTGACTACAGTGAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGC
AGGTAGTTGCCGAAGCAGCAAAAACTGCGAAGCGGAAGCGAGAGAGTGAGAGTGAAAGTGACGA
GACTCCTCCAGCAGCTCCTCAGTTGATCAAGAAGGAAAAGAAGAAGAGTAAGAAGGACAAGAAG
GCCAAAGCTGGTCTGGAGAGCGGGGCCGAGCCTGGAGATGGGGACAGTGATACCACCAAGAAGA
AGAAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTGGTTTCTGAGTAGTGAAGGCCACTTGAAGC
TGGAGGAGAAACTAAAGCCTTATTGAGAAAACATGTTATAGATCCTTTTGTTGCTGAGAGAGTG
GAACATAGGTCCTAGACAGGGTGAAGAGTTCTGGCACATTTTAGCTGCTACTTTGAGACCTCGG
TGATGTTACCTGGTGTGGTCATCCCATCTTGTCCTGTTTTAAGGATATGGGTGGTGAAAGATGA
AAGAGGCAGAGTTTATCCCAATGACTTCTCTGTTTGAGTTGGGAAGCCTCACCTTCAGACCCAG
TAACTGTCCGCAGCTGTCTGCTAGTGGTTGTCTTAACATCGTAGTCCTAGTTTGCATTTTTTAA
ATCCCCTCTGTTTAAAAGGTTTGTAAAACAAAAACAAAAAACTAAGTCTGCTCAGTGAAATGCT
GTAGAACCCTAAATAAGTGGTAGAAGAGTGTCACTGAATTTTGTCTCTGAATTCAGTATAACTG
AGTTTTGTCCATGCTGGTGTCTGGGTTATAGGCCTGATGGGCCTGGTAGTTTTCCATCTTGTTC
TGGCCTAGAGGTCAGTCCTTTGCACTTCCTCAAAGCTTGTGTACAGTGCTCACCTAAATCCATC
TGACTACTTGTTCCTGTGCCCTCTTGTTTTAGGCCTCGTTTACTTTTAAAAAATGAAATTGTTC
ATTGCTGGGAGAAGAATGTTGTAATTTTTACTTATTAAAGTCAACTTGTTAAGTTTTTTATGTA
TTCCTGTTGGGTTTTCTTGTTGATCTCATGCTAGCAGAGCAAAAATTGTAAAATATTTTGATTA
AAAATCTAGGGACCTTTATGTCCTATTTGAAATGTGA

hide sequence

RefSeq Acc Id:

NR_110021

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	154,762,864 - 154,777,689 (+)	NCBI
HuRef	X	142,534,579 - 142,549,324 (+)	NCBI
CHM1_1	X	153,902,709 - 153,917,646 (+)	NCBI
T2T-CHM13v2.0	X	152,999,274 - 153,014,101 (+)	NCBI

Sequence:

show sequence

GGGTGGGTCCTAGCAGCGCGGCCTGACGGGACCAAGGCGGCGGGAGTCTGCGGTCGTTCCCTCG
GCTGTGGACCGGGCGGCACGCACGCGGTGCAGGGTAACATGGCGGATGCGGAAGTAATTATTTT
GCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAGTCATTGCCAGAAGAAGATGTAGCCGTGAGT
AGTAATGTGTTTGACTTCACTTTGACTAAAAAGAAAGTTTACTTAAATAACAAACTAAAGGAAA
GAAGTGTTTTTAAAGGTTTCCAAGGAATGGGCCAGCATTGGTAGTCATTGTGTAGATTCGAAAA
AGCACTGAAATGACACAGCCCCAGACAGTCCAAGTGTCCTTCAGGCATAGCTTACTAAATGGTG
CTGGCCTTACCAACTGCTGTCTCTGAATTTGTCTTCCTTATGCCACCCACAGACCCGCCATCCC
CCTTTCTCTTTAAATGTTTGGACCCATCTTAGTGACATTTCACTTCCCCTCTGTACTCCTGGTT
CATTTCTTCTCTCTCTTTCCCTTGGAGGTCCCAGTGAAAAGGCATAGGAAGCCTTGTTTTCTGT
TTAAAAGGCATACATTTCCATGGCAGTAATGGAATTGTTCAAAATCGGGTGGGAAGTTTAATAG
GTTATATTTCTGTCCTGTCGAAGGAAATACAACACGCTGAAGAATTTCTTATCAAACCTGAATC
CAAAGTTGCTAAGTTGGACACGTCTCAGTGGCCCCTTTTGCTAAAGAATTTTGATAAGCTGAAT
GTAAGGACAACACACTATACACCTCTTGCATGTGGTTCAAATCCTCTGAAGAGAGAGATTGGGG
ACTATATCAGGACAGGTTTCATTAATCTTGACAAGCCCTCTAACCCCTCTTCCCATGAGGTGGT
AGCCTGGATTCGACGGATACTTCGGGTGGAGAAGACAGGGCACAGTGGTACGCTGGATCCCAAG
GTGACTGGTTGTTTAATCGTGTGCATAGAACGAGCCACTCGCTTGGTGAAGTCACAACAGAGTG
CAGGCAAAGAGTATGTGGGGATTGTCCGGCTGCACAATGCTATTGAAGGGGGGACCCAGCTTTC
TAGGGCCCTAGAAACTCTGACAGGTGCCTTATTCCAGCGACCCCCACTTATTGCTGCAGTAAAG
AGGCAGCTCCGAGTGAGGACCATCTACGAGAGCAAAATGATTGAATACGATCCTGAAAGAAGAT
TAGGAATCTTTTGGGTGAGTTGTGAGGCTGGCACCTACATTCGGACATTATGTGTGCACCTTGG
TTTGTTATTGGGAGTTGGTGGTCAGATGCAGGAGCTTCGGAGGGTTCGTTCTGGAGTCATGAGT
GAAAAGGACCACATGGTGACAATGCATGATGTGCTTGATGCTCAGTGGCTGTATGATAACCACA
AGGATGAGAGTTACCTGCGGCGAGTTGTTTACCCTTTGGAAAAGCTGTTGACATCTCATAAACG
GCTGGTTATGAAAGACAGTGCAGTAAATGCCATCTGCTATGGGGCCAAGATTATGCTTCCAGGT
GTTCTTCGATATGAGGACGGCATTGAGGTCAATCAGGAGATTGTGGTTATCACCACCAAAGGAG
AAGCAATCTGCATGGCTATTGCATTAATGACCACAGCGGTCATCTCTACCTGCGACCATGGTAT
AGTAGCCAAGATCAAGAGAGTGATCATGGAGAGAGACACTTACCCTCGGAAGTGGGGTTTAGGT
CCAAAGGCAAGTCAGAAGAAGCTGATGATCAAGCAGGGCCTTCTGGACAAGCATGGGAAGCCCA
CAGACAGCACACCTGCCACCTGGAAGCAGGAGTATGTTGACTACAGTGAGTCTGCCAAAAAAGA
GGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAAGCAGCAAAAACTGCGAAGCGG
AAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGCTCCTCAGTTGATCAAGAAGG
AAAAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTGGAGAGCGGGGCCGAGCCTGG
AGATGGGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTG
GTTTCTGAGTAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTAAAGCCTTATTGAGAAAACATG
TTATAGATCCTTTTGTTGCTGAGAGAGTGGAACATAGGTCCTAGACAGGGTGAAGAGTTCTGGC
ACATTTTAGCTGCTACTTTGAGACCTCGGTGATGTTACCTGGTGTGGTCATCCCATCTTGTCCT
GTTTTAAGGATATGGGTGGTGAAAGATGAAAGAGGCAGAGTTTATCCCAATGACTTCTCTGTTT
GAGTTGGGAAGCCTCACCTTCAGACCCAGTAACTGTCCGCAGCTGTCTGCTAGTGGTTGTCTTA
ACATCGTAGTCCTAGTTTGCATTTTTTAAATCCCCTCTGTTTAAAAGGTTTGTAAAACAAAAAC
AAAAAACTAAGTCTGCTCAGTGAAATGCTGTAGAACCCTAAATAAGTGGTAGAAGAGTGTCACT
GAATTTTGTCTCTGAATTCAGTATAACTGAGTTTTGTCCATGCTGGTGTCTGGGTTATAGGCCT
GATGGGCCTGGTAGTTTTCCATCTTGTTCTGGCCTAGAGGTCAGTCCTTTGCACTTCCTCAAAG
CTTGTGTACAGTGCTCACCTAAATCCATCTGACTACTTGTTCCTGTGCCCTCTTGTTTTAGGCC
TCGTTTACTTTTAAAAAATGAAATTGTTCATTGCTGGGAGAAGAATGTTGTAATTTTTACTTAT
TAAAGTCAACTTGTTAAGTTTTTTATGTATTCCTGTTGGGTTTTCTTGTTGATCTCATGCTAGC
AGAGCAAAAATTGTAAAATATTTTGATTAAAAATCTAGGGACCTTTATGTCCTATTTGAAATGT
GA

hide sequence

RefSeq Acc Id:

NR_110022

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	154,762,864 - 154,777,689 (+)	NCBI
HuRef	X	142,534,579 - 142,549,324 (+)	NCBI
CHM1_1	X	153,902,709 - 153,917,646 (+)	NCBI
T2T-CHM13v2.0	X	152,999,274 - 153,014,101 (+)	NCBI

Sequence:

show sequence

GGGTGGGTCCTAGCAGCGCGGCCTGACGGGACCAAGGCGGCGGGAGTCTGCGGTCGTTCCCTCG
GCTGTGGACCGGGCGGCACGCACGCGGTGCAGGGTAACATGGCGGATGCGGAAGTAATTATTTT
GCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAGTCATTGCCAGAAGAAGATGTAGCCGAAATA
CAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTCAGT
GGCCCCTTTTGCTAAAGAATTTTGATAAGCTGAATGTAAGGACAACACACTATACACCTCTTGC
ATGTGGTTCAAATCCTCTGAAGAGAGAGATTGGGGACTATATCAGGACAGGTTTCATTAATCTT
GACAAGCCCTCTAACCCCTCTTCCCATGAGGTGGTAGCCTGGATTCGACGGATACTTCGGGTGG
AGAAGACAGGGCACAGTGGTACGCTGGATCCCAAGGTGACTGGTTGTTTAATCGTGTGCATAGA
ACGAGCCACTCGCTTGGTGAAGTCACAACAGAGTGCAGGTATGTGGGAGAGGGAGGGAAGGACT
GGCTAGAGTGAAAAGCTTTCTGTATTTCCCTTCTATGTTTTGTCTGCTGGAAACTATTTCTTCA
TTAAGAAAAAAAAAAATCCTAAAGCAAGGATATTGTTTTGGTTTCTGTGTACGTTCTGTCCCCT
GCCAGATCTTGGTGGTCCGCGCTTTTTGGAATTCCACATACTAAGCATGTATTCATCAAGCTGA
CTGGATCCATTTGTCCGGGTTCAGCTCTCAGCTTGTCACTCCAGGCTTCTCACTCTGTGCTACC
GCTTCTGCCTAAAGTATCCTTCGTTCATTTTTATCTGAGAAAAGCCTGCTTATCTTGCAAGGCT
TTTTCCACGCAGCTTCTACACTGAGTACTCCCAACTGTCCCTGTTAGTACATTGAATTCCCAGT
GAGAAAGTGTCTTCATTCTTTCCCACATCATCACCATGAAATCTCTCTTAATGCAAATTTTATA
GAAACACAAGGTCAAACTGCCGCTTTTCCTGCTGTGCAAAATGGGAGTGACTGAGCATATAAGA
AATATGGAAAACAGAAAACTCAGTGGCCACACCTGACTACTCTTTTGTCATTTTTCAGGCAAAG
AGTATGTGGGGATTGTCCGGCTGCACAATGCTATTGAAGGGGGGACCCAGCTTTCTAGGGCCCT
AGAAACTCTGACAGGTGCCTTATTCCAGCGACCCCCACTTATTGCTGCAGTAAAGAGGCAGCTC
CGAGTGAGGACCATCTACGAGAGCAAAATGATTGAATACGATCCTGAAAGAAGATTAGGAATCT
TTTGGGTGAGTTGTGAGGCTGGCACCTACATTCGGACATTATGTGTGCACCTTGGTTTGTTATT
GGGAGTTGGTGGTCAGATGCAGGAGCTTCGGAGGGTTCGTTCTGGAGTCATGAGTGAAAAGGAC
CACATGGTGACAATGCATGATGTGCTTGATGCTCAGTGGCTGTATGATAACCACAAGGATGAGA
GTTACCTGCGGCGAGTTGTTTACCCTTTGGAAAAGCTGTTGACATCTCATAAACGGCTGGTTAT
GAAAGACAGTGCAGTAAATGCCATCTGCTATGGGGCCAAGATTATGCTTCCAGGTGTTCTTCGA
TATGAGGACGGCATTGAGGTCAATCAGGAGATTGTGGTTATCACCACCAAAGGAGAAGCAATCT
GCATGGCTATTGCATTAATGACCACAGCGGTCATCTCTACCTGCGACCATGGTATAGTAGCCAA
GATCAAGAGAGTGATCATGGAGAGAGACACTTACCCTCGGAAGTGGGGTTTAGGTCCAAAGGCA
AGTCAGAAGAAGCTGATGATCAAGCAGGGCCTTCTGGACAAGCATGGGAAGCCCACAGACAGCA
CACCTGCCACCTGGAAGCAGGAGTATGTTGACTACAGTGAGTCTGCCAAAAAAGAGGTGGTTGC
TGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAAGCAGCAAAAACTGCGAAGCGGAAGCGAGAG
AGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGCTCCTCAGTTGATCAAGAAGGAAAAGAAGA
AGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTGGAGAGCGGGGCCGAGCCTGGAGATGGGGA
CAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTGGTTTCTGAG
TAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTAAAGCCTTATTGAGAAAACATGTTATAGATC
CTTTTGTTGCTGAGAGAGTGGAACATAGGTCCTAGACAGGGTGAAGAGTTCTGGCACATTTTAG
CTGCTACTTTGAGACCTCGGTGATGTTACCTGGTGTGGTCATCCCATCTTGTCCTGTTTTAAGG
ATATGGGTGGTGAAAGATGAAAGAGGCAGAGTTTATCCCAATGACTTCTCTGTTTGAGTTGGGA
AGCCTCACCTTCAGACCCAGTAACTGTCCGCAGCTGTCTGCTAGTGGTTGTCTTAACATCGTAG
TCCTAGTTTGCATTTTTTAAATCCCCTCTGTTTAAAAGGTTTGTAAAACAAAAACAAAAAACTA
AGTCTGCTCAGTGAAATGCTGTAGAACCCTAAATAAGTGGTAGAAGAGTGTCACTGAATTTTGT
CTCTGAATTCAGTATAACTGAGTTTTGTCCATGCTGGTGTCTGGGTTATAGGCCTGATGGGCCT
GGTAGTTTTCCATCTTGTTCTGGCCTAGAGGTCAGTCCTTTGCACTTCCTCAAAGCTTGTGTAC
AGTGCTCACCTAAATCCATCTGACTACTTGTTCCTGTGCCCTCTTGTTTTAGGCCTCGTTTACT
TTTAAAAAATGAAATTGTTCATTGCTGGGAGAAGAATGTTGTAATTTTTACTTATTAAAGTCAA
CTTGTTAAGTTTTTTATGTATTCCTGTTGGGTTTTCTTGTTGATCTCATGCTAGCAGAGCAAAA
ATTGTAAAATATTTTGATTAAAAATCTAGGGACCTTTATGTCCTATTTGAAATGTGA

hide sequence

RefSeq Acc Id:

NR_110023

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	154,762,864 - 154,777,689 (+)	NCBI
HuRef	X	142,534,579 - 142,549,324 (+)	NCBI
CHM1_1	X	153,902,709 - 153,917,646 (+)	NCBI
T2T-CHM13v2.0	X	152,999,274 - 153,014,101 (+)	NCBI

Sequence:

show sequence

GGGTGGGTCCTAGCAGCGCGGCCTGACGGGACCAAGGCGGCGGGAGTCTGCGGTCGTTCCCTCG
GCTGTGGACCGGGCGGCACGCACGCGGTGCAGGGTAACATGGCGGATGCGGAAGTAATTATTTT
GCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAGTCATTGCCAGAAGAAGATGTAGCCGAAATA
CAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTCAGT
GGCCCCTTTTGCTAAAGAATTTTGATAAGCTGAATGTAAGGACAACACACTATACACCTCTTGC
ATGTGGTTCAAATCCTCTGAAGAGAGAGATTGGGGACTATATCAGGACAGGTTTCATTAATCTT
GACAAGCCCTCTAACCCCTCTTCCCATGAGGTGGTAGCCTGGATTCGACGGATACTTCGGGTGG
AGAAGACAGGGCACAGTGGTACGCTGGATCCCAAGGTGACTGGTTGTTTAATCGTGTGCATAGA
ACGAGCCACTCGCTTGGTGAAGTCACAACAGAGTGCAGGCAAAGAGTATGTGGGGATTGTCCGG
CTGCACAATGCTATTGAAGGGGGGACCCAGCTTTCTAGGGCCCTAGAAACTCTGACAGGTGCCT
TATTCCAGCGACCCCCACTTATTGCTGCAGTAAAGAGGCAGCTCCGAGTGAGGACCATCTACGA
GAGCAAAATGATTGAATACGATCCTGAAAGAAGATTAGGAATCTTTTGGGTGAGTTGTGAGGCT
GGCACCTACATTCGGACATTATGTGTGCACCTTGGTTTGTTATTGGGAGTTGGTGGTCAGATGC
AGGAGCTTCGGAGGGTTCGTTCTGGAGTCATGAGTGAAAAGGTATGTGTTACGGGGCTAGAAGT
TTTAGAGCTGGTTCTTACCATCTGCCAGCCTTTGATGGCACTCCACTTGCTTCATGTCGTGGGA
AAGATGCTTTCCAAAGTGTTGAGTTCAGTCCAGGGCAGCTTCCCTGTTCTGTTAATTAAACTTT
GGGACATTAAAATGGGCTAAGGGAGATGATTGGGTAGAAAGTATTATTCTATTCATTTGCCTCC
CAGCCTACAAAAATGCCTGCTTGGGGTCTAATACTTCAACGGTTAAAGATGCCTGGAAGAGGGC
GCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAG
GAGATCGAGACCATCCTGGCTAACAAGGACCACATGGTGACAATGCATGATGTGCTTGATGCTC
AGTGGCTGTATGATAACCACAAGGATGAGAGTTACCTGCGGCGAGTTGTTTACCCTTTGGAAAA
GCTGTTGACATCTCATAAACGGCTGGTTATGAAAGACAGTGCAGTAAATGCCATCTGCTATGGG
GCCAAGATTATGCTTCCAGGTGTTCTTCGATATGAGGACGGCATTGAGGTCAATCAGGAGATTG
TGGTTATCACCACCAAAGGAGAAGCAATCTGCATGGCTATTGCATTAATGACCACAGCGGTCAT
CTCTACCTGCGACCATGGTATAGTAGCCAAGATCAAGAGAGTGATCATGGAGAGAGACACTTAC
CCTCGGAAGTGGGGTTTAGGTCCAAAGGCAAGTCAGAAGAAGCTGATGATCAAGCAGGGCCTTC
TGGACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAGGAGTATGTTGACTA
CAGTGAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAA
GCAGCAAAAACTGCGAAGCGGAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAG
CTCCTCAGTTGATCAAGAAGGAAAAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCT
GGAGAGCGGGGCCGAGCCTGGAGATGGGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAG
AAAGCAAAAGAGGTAGAATTGGTTTCTGAGTAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTA
AAGCCTTATTGAGAAAACATGTTATAGATCCTTTTGTTGCTGAGAGAGTGGAACATAGGTCCTA
GACAGGGTGAAGAGTTCTGGCACATTTTAGCTGCTACTTTGAGACCTCGGTGATGTTACCTGGT
GTGGTCATCCCATCTTGTCCTGTTTTAAGGATATGGGTGGTGAAAGATGAAAGAGGCAGAGTTT
ATCCCAATGACTTCTCTGTTTGAGTTGGGAAGCCTCACCTTCAGACCCAGTAACTGTCCGCAGC
TGTCTGCTAGTGGTTGTCTTAACATCGTAGTCCTAGTTTGCATTTTTTAAATCCCCTCTGTTTA
AAAGGTTTGTAAAACAAAAACAAAAAACTAAGTCTGCTCAGTGAAATGCTGTAGAACCCTAAAT
AAGTGGTAGAAGAGTGTCACTGAATTTTGTCTCTGAATTCAGTATAACTGAGTTTTGTCCATGC
TGGTGTCTGGGTTATAGGCCTGATGGGCCTGGTAGTTTTCCATCTTGTTCTGGCCTAGAGGTCA
GTCCTTTGCACTTCCTCAAAGCTTGTGTACAGTGCTCACCTAAATCCATCTGACTACTTGTTCC
TGTGCCCTCTTGTTTTAGGCCTCGTTTACTTTTAAAAAATGAAATTGTTCATTGCTGGGAGAAG
AATGTTGTAATTTTTACTTATTAAAGTCAACTTGTTAAGTTTTTTATGTATTCCTGTTGGGTTT
TCTTGTTGATCTCATGCTAGCAGAGCAAAAATTGTAAAATATTTTGATTAAAAATCTAGGGACC
TTTATGTCCTATTTGAAATGTGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001135935	(Get FASTA)	NCBI Sequence Viewer
	NP_001275676	(Get FASTA)	NCBI Sequence Viewer
	NP_001354	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB94299	(Get FASTA)	NCBI Sequence Viewer
	AAD11815	(Get FASTA)	NCBI Sequence Viewer
	AAD20232	(Get FASTA)	NCBI Sequence Viewer
	AAH09928	(Get FASTA)	NCBI Sequence Viewer
	AAH10015	(Get FASTA)	NCBI Sequence Viewer
	ADX66370	(Get FASTA)	NCBI Sequence Viewer
	AGZ20497	(Get FASTA)	NCBI Sequence Viewer
	AGZ20498	(Get FASTA)	NCBI Sequence Viewer
	AGZ20499	(Get FASTA)	NCBI Sequence Viewer
	CAA11970	(Get FASTA)	NCBI Sequence Viewer
	CAB39106	(Get FASTA)	NCBI Sequence Viewer
	CAB51168	(Get FASTA)	NCBI Sequence Viewer
	EAW72661	(Get FASTA)	NCBI Sequence Viewer
	EAW72662	(Get FASTA)	NCBI Sequence Viewer
	EAW72663	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000358563
	ENSP00000358563.5
	ENSP00000512730
GenBank Protein	O60832	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001354 ⟸ NM_001363
- Peptide Label:	isoform 1
- UniProtKB:	Q96G67 (UniProtKB/Swiss-Prot), O43845 (UniProtKB/Swiss-Prot), F5BSB3 (UniProtKB/Swiss-Prot), Q9Y505 (UniProtKB/Swiss-Prot), O60832 (UniProtKB/Swiss-Prot), A0A8Q3WLC8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNV RTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKV TGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKR QLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSE KDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGV LRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGP KASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRK RESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELV SE hide sequence

RefSeq Acc Id:	NP_001135935 ⟸ NM_001142463
- Peptide Label:	isoform 2
- UniProtKB:	A0A8Q3SIY6 (UniProtKB/TrEMBL), A0A8Q3WLC8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNV RTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKV TGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKR QLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSE KDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGV LRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGP KASQKKLMIKQGLLDKHGKPTDSTPATWKQDESAKKEVVAEVVKAPQVVAEAAKTAKRKRESES ESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE hide sequence

RefSeq Acc Id:	NP_001275676 ⟸ NM_001288747
- Peptide Label:	isoform 3
- UniProtKB:	A0A8Q3SIX2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNV RTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKV TGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKR QLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSE KDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGV LRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGP KASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYR hide sequence

Ensembl Acc Id:

ENSP00000395693 ⟸ ENST00000437719

Ensembl Acc Id:

ENSP00000478387 ⟸ ENST00000620277

Ensembl Acc Id:

ENSP00000389304 ⟸ ENST00000412124

Ensembl Acc Id:

ENSP00000407253 ⟸ ENST00000426673

Ensembl Acc Id:

ENSP00000407325 ⟸ ENST00000452771

Ensembl Acc Id:

ENSP00000400542 ⟸ ENST00000413910

Ensembl Acc Id:

ENSP00000358563 ⟸ ENST00000369550

Ensembl Acc Id:

ENSP00000512735 ⟸ ENST00000696582

Ensembl Acc Id:

ENSP00000512734 ⟸ ENST00000696581

Ensembl Acc Id:

ENSP00000512731 ⟸ ENST00000696577

Ensembl Acc Id:

ENSP00000512730 ⟸ ENST00000696575

Ensembl Acc Id:

ENSP00000512764 ⟸ ENST00000696627

Ensembl Acc Id:

ENSP00000512737 ⟸ ENST00000696587

Ensembl Acc Id:

ENSP00000512765 ⟸ ENST00000696628

Ensembl Acc Id:

ENSP00000512732 ⟸ ENST00000696578

Ensembl Acc Id:

ENSP00000512736 ⟸ ENST00000696583

Ensembl Acc Id:

ENSP00000512733 ⟸ ENST00000696580

Protein Domains

Dyskerin-like PUA

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O60832-F1-model_v2	AlphaFold	O60832	1-514	view protein structure

Promoters

RGD ID:

6808617

Promoter ID:

HG_KWN:68697

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_001142463, OTTHUMT00000061180, OTTHUMT00000316150, OTTHUMT00000316151, OTTHUMT00000316152

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	153,643,346 - 153,644,492 (+)	MPROMDB

RGD ID:

6853092

Promoter ID:

EP74367

Type:

initiation region

Name:

HS_DKC1

Description:

Dyskeratosis congenita 1, dyskerin.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	153,644,362 - 153,644,422	EPD

RGD ID:

6808624

Promoter ID:

HG_KWN:68698

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000316153, OTTHUMT00000316155

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	153,646,376 - 153,646,876 (+)	MPROMDB

RGD ID:

6808621

Promoter ID:

HG_KWN:68699

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000061184, OTTHUMT00000316154

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	153,647,911 - 153,648,812 (+)	MPROMDB

RGD ID:

6808623

Promoter ID:

HG_KWN:68700

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

ENST00000384221, OTTHUMT00000061181, OTTHUMT00000061182

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	153,649,591 - 153,650,091 (+)	MPROMDB

RGD ID:

6808619

Promoter ID:

HG_KWN:68701

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Jurkat, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000061183

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	153,654,101 - 153,654,601 (+)	MPROMDB

RGD ID:

6808622

Promoter ID:

HG_KWN:68702

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

OTTHUMT00000127557

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	153,655,591 - 153,656,942 (+)	MPROMDB

RGD ID:

13628668

Promoter ID:

EPDNEW_H29572

Type:

initiation region

Name:

DKC1_2

Description:

dyskerin pseudouridine synthase 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29573

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	154,762,742 - 154,762,802	EPDNEW

RGD ID:

13628670

Promoter ID:

EPDNEW_H29573

Type:

initiation region

Name:

DKC1_1

Description:

dyskerin pseudouridine synthase 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29572

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	154,762,875 - 154,762,935	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:2890	AgrOrtholog
COSMIC	DKC1	COSMIC
Ensembl Genes	ENSG00000130826	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000369550	ENTREZGENE
	ENST00000369550.10	UniProtKB/Swiss-Prot
	ENST00000620277	ENTREZGENE
	ENST00000696575	ENTREZGENE
	ENST00000696582	ENTREZGENE
	ENST00000696584	ENTREZGENE
	ENST00000696585	ENTREZGENE
Gene3D-CATH	2.30.130.10	UniProtKB/Swiss-Prot
	Pseudouridine synthase	UniProtKB/Swiss-Prot
GTEx	ENSG00000130826	GTEx
HGNC ID	HGNC:2890	ENTREZGENE
Human Proteome Map	DKC1	Human Proteome Map
InterPro	Dyskerin-like	UniProtKB/Swiss-Prot
	PsdUridine_synth_cat_dom_sf	UniProtKB/Swiss-Prot
	PsdUridine_synth_N	UniProtKB/Swiss-Prot
	PUA	UniProtKB/Swiss-Prot
	PUA-like_sf	UniProtKB/Swiss-Prot
	PUA_sf	UniProtKB/Swiss-Prot
	tRNA_PsdUridine_synth_B_fam	UniProtKB/Swiss-Prot
	TruB_C	UniProtKB/Swiss-Prot
	Uncharacterised_CHP00451	UniProtKB/Swiss-Prot
KEGG Report	hsa:1736	UniProtKB/Swiss-Prot
NCBI Gene	1736	ENTREZGENE
OMIM	300126	OMIM
PANTHER	H/ACA RIBONUCLEOPROTEIN COMPLEX SUBUNIT DKC1	UniProtKB/Swiss-Prot
	PTHR23127	UniProtKB/Swiss-Prot
Pfam	DKCLD	UniProtKB/Swiss-Prot
	PUA	UniProtKB/Swiss-Prot
	TruB_C_2	UniProtKB/Swiss-Prot
	TruB_N	UniProtKB/Swiss-Prot
PharmGKB	PA27344	PharmGKB
PROSITE	PUA	UniProtKB/Swiss-Prot
SMART	DKCLD	UniProtKB/Swiss-Prot
	PUA	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF55120	UniProtKB/Swiss-Prot
	SSF88697	UniProtKB/Swiss-Prot
UniProt	A0A8Q3SIS9_HUMAN	UniProtKB/TrEMBL
	A0A8Q3SIX2	ENTREZGENE, UniProtKB/TrEMBL
	A0A8Q3SIY6	ENTREZGENE, UniProtKB/TrEMBL
	A0A8Q3SJE8_HUMAN	UniProtKB/TrEMBL
	A0A8Q3WLC8	ENTREZGENE, UniProtKB/TrEMBL
	A0A8Q3WLD1_HUMAN	UniProtKB/TrEMBL
	A0A8Q3WLE4_HUMAN	UniProtKB/TrEMBL
	A0A8Q3WLE5_HUMAN	UniProtKB/TrEMBL
	A0A8Q3WLG7_HUMAN	UniProtKB/TrEMBL
	A0A8Q3WLW8_HUMAN	UniProtKB/TrEMBL
	A0A8V8TKY9_HUMAN	UniProtKB/TrEMBL
	C9IYT0_HUMAN	UniProtKB/TrEMBL
	DKC1_HUMAN	UniProtKB/Swiss-Prot
	F5BSB3	ENTREZGENE
	H7C2Q2_HUMAN	UniProtKB/TrEMBL
	O43845	ENTREZGENE
	O60832	ENTREZGENE
	O95940_HUMAN	UniProtKB/TrEMBL
	Q96G67	ENTREZGENE
	Q9Y505	ENTREZGENE
UniProt Secondary	F5BSB3	UniProtKB/Swiss-Prot
	O43845	UniProtKB/Swiss-Prot
	Q96G67	UniProtKB/Swiss-Prot
	Q9Y505	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-23	DKC1	dyskerin pseudouridine synthase 1	DKC1	dyskeratosis congenita 1, dyskerin	Symbol and/or name change	5135510	APPROVED

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)

Manual Human Phenotype Annotations - RGD

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)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar