DDX3X (DEAD-box helicase 3 X-linked)

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Gene: DDX3X (DEAD-box helicase 3 X-linked) Homo sapiens

Analyze

Symbol:

DDX3X

Name:

DEAD-box helicase 3 X-linked

RGD ID:

1352934

HGNC Page

HGNC:2745

Description:

Enables several functions, including helicase activity; nucleic acid binding activity; and ribonucleoside triphosphate phosphatase activity. Involved in several processes, including apoptotic signaling pathway; positive regulation of macromolecule metabolic process; and regulation of signal transduction. Located in several cellular components, including centrosome; cytoplasmic stress granule; and nucleoplasm. Colocalizes with cytosolic small ribosomal subunit and eukaryotic translation initiation factor 3 complex. Implicated in colorectal cancer and syndromic X-linked intellectual disability. Biomarker of colorectal cancer and hepatocellular carcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ATP-dependent RNA helicase DDX3X; CAP-Rf; DBX; DDX14; DDX3; DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked; DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked; DEAD box protein 3, X-chromosomal; DEAD box, X isoform; DEAD-box helicase 3, X-linked; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3; DEAD/H box-3; helicase like protein 2; helicase-like protein 2; HLP2; MRX102; MRXSSB

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Ddx3x (DEAD box helicase 3, X-linked)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB
Rattus norvegicus (Norway rat):	Ddx3x (DEAD-box helicase 3, X-linked)	HGNC	Ensembl, NCBI, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Ddx3x (DEAD-box helicase 3 X-linked)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	DDX3X (DEAD-box helicase 3 X-linked)	NCBI	Ortholog
Canis lupus familiaris (dog):	DDX3X (DEAD-box helicase 3 X-linked)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ddx3x (DEAD-box helicase 3 X-linked)	NCBI	Ortholog
Sus scrofa (pig):	DDX3X (DEAD-box helicase 3 X-linked)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Treefam
Chlorocebus sabaeus (green monkey):	DDX3X (DEAD-box helicase 3 X-linked)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ddx3x (DEAD-box helicase 3 X-linked)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Ddx3y (DEAD box helicase 3, Y-linked)	HGNC	EggNOG, OrthoDB, OrthoMCL, Panther, Treefam
Mus musculus (house mouse):	D1Pas1 (DNA segment, Chr 1, Pasteur Institute 1)	HGNC	OrthoDB, OrthoMCL, Panther, Treefam
Sus scrofa (pig):	LOC100624590 (ATP-dependent RNA helicase DDX3X)	HGNC	EggNOG, OrthoDB, Panther, Treefam
Rattus norvegicus (Norway rat):	Ddx3 (DEAD-box helicase 3)	HGNC	OrthoDB, Panther
Rattus norvegicus (Norway rat):	Ddx3y (DEAD box helicase 3, Y-linked)	HGNC	OrthoDB, Panther
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Ddx3 (DEAD-box helicase 3)	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER)
Mus musculus (house mouse):	D1Pas1 (DNA segment, Chr 1, Pasteur Institute 1)	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER)
Mus musculus (house mouse):	Ddx3x (DEAD box helicase 3, X-linked)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Rattus norvegicus (Norway rat):	Ddx3x (DEAD-box helicase 3, X-linked)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	DBP1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	bel	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ddx3xa	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	ddx3xb	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	laf-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	vbh-1	Alliance	DIOPT (OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Saccharomyces cerevisiae (baker's yeast):	DED1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	ddx3x.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	ddx3x	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	ddx3x.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

DDX3P3

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	41,333,308 - 41,364,472 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	X	41,333,348 - 41,364,472 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	41,192,561 - 41,223,725 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	41,077,595 - 41,094,471 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	40,948,904 - 40,979,978	NCBI
Celera	X	45,333,407 - 45,350,283 (+)	NCBI		Celera
Cytogenetic Map	X	p11.4	NCBI
HuRef	X	38,924,970 - 38,941,587 (+)	NCBI		HuRef
CHM1_1	X	41,225,367 - 41,242,242 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	40,735,393 - 40,766,556 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

breast cancer (HEP)

cerebellar hypoplasia (IAGP)

colorectal cancer (HEP,IEP,IMP)

Developmental Disabilities (IAGP)

epilepsy (EXP)

genetic disease (IAGP)

hepatocellular carcinoma (IEP,ISO)

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE (IAGP)

intellectual disability (IAGP)

malignant mesothelioma (EXP)

Marfanoid Mental Retardation Syndrome, Autosomal (IAGP)

medulloblastoma (EXP,IAGP)

Neoplasm Metastasis (IMP)

NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (IAGP)

Neurodevelopmental Disorders (EXP,IAGP)

osteoarthritis (EXP)

syndromic X-linked intellectual disability Hedera type (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

syndromic X-linked intellectual disability Najm type (IAGP)

T-cell non-Hodgkin lymphoma (EXP)

tongue cancer (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP,ISO)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

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

2,4,6-tribromophenol (EXP)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (ISO)

2,6-dinitrotoluene (ISO)

3H-1,2-dithiole-3-thione (ISO)

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

6-bromoindirubin-3'-oxime (EXP)

acetamide (ISO)

acetazolamide (ISO)

acrolein (EXP)

aflatoxin B1 (EXP)

aldehydo-D-glucose (EXP)

aloxistatin (EXP)

alpha-pinene (EXP)

antirheumatic drug (EXP)

aristolochic acid A (EXP)

Aroclor 1254 (ISO)

arsenite(3-) (EXP)

atrazine (EXP)

benzatropine (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (ISO)

C60 fullerene (ISO)

caffeine (EXP)

carbon nanotube (ISO)

chloroquine (EXP)

cisplatin (EXP)

clofibrate (ISO)

cobalt dichloride (EXP)

copper(II) sulfate (EXP)

Cuprizon (EXP)

cylindrospermopsin (EXP)

D-glucose (EXP)

dibutyl phthalate (ISO)

disodium selenite (EXP)

dorsomorphin (EXP)

enzyme inhibitor (EXP)

ethanol (ISO)

fenvalerate (ISO)

flutamide (ISO)

folic acid (ISO)

fulvestrant (EXP)

geldanamycin (EXP)

gentamycin (ISO)

glucose (EXP)

hydrogen peroxide (EXP)

hypochlorous acid (ISO)

irinotecan (ISO)

ivermectin (EXP)

ketorolac (EXP)

leflunomide (EXP)

leupeptin (EXP)

methidathion (ISO)

methylparaben (EXP)

ozone (EXP)

paracetamol (ISO)

paraquat (EXP)

perfluorooctane-1-sulfonic acid (ISO)

phenol (EXP)

piroxicam (EXP)

poly(I:C) (ISO)

pyrogallol (ISO)

quizartinib (EXP)

resveratrol (EXP,ISO)

rimonabant (ISO)

rottlerin (EXP)

SB 431542 (EXP)

sodium arsenite (EXP,ISO)

sodium fluoride (ISO)

temozolomide (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

valproic acid (EXP,ISO)

vinclozolin (ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

apoptotic process (IEA)

cell differentiation (IBA)

cellular response to arsenic-containing substance (IDA)

cellular response to osmotic stress (IDA)

cellular response to virus (IDA)

chromosome segregation (IEA,IMP)

cytosolic ribosome assembly (IMP)

DNA duplex unwinding (IEA)

extrinsic apoptotic signaling pathway via death domain receptors (IMP)

gamete generation (IBA)

immune system process (IEA)

innate immune response (IEA,IMP)

intracellular signal transduction (IDA)

intrinsic apoptotic signaling pathway (IMP)

lipid homeostasis (IMP)

negative regulation by host of viral genome replication (ISO)

negative regulation of apoptotic process (IMP)

negative regulation of cell growth (IDA)

negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (IMP)

negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (IMP)

negative regulation of intrinsic apoptotic signaling pathway (IMP)

negative regulation of NIK/NF-kappaB signaling (IMP)

negative regulation of protein-containing complex assembly (IDA)

negative regulation of translation (IMP)

positive regulation of apoptotic process (IMP)

positive regulation of canonical Wnt signaling pathway (IMP)

positive regulation of cell growth (IMP)

positive regulation of chemokine (C-C motif) ligand 5 production (TAS)

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

positive regulation of DNA-templated transcription (ISO)

positive regulation of G1/S transition of mitotic cell cycle (IMP)

positive regulation of gene expression (IDA,NAS)

positive regulation of interferon-alpha production (IDA)

positive regulation of interferon-beta production (IDA,TAS)

positive regulation of NIK/NF-kappaB signaling (IMP)

positive regulation of NLRP3 inflammasome complex assembly (IEA,ISS)

positive regulation of protein acetylation (IMP)

positive regulation of protein autophosphorylation (IDA)

positive regulation of protein K63-linked ubiquitination (IDA)

positive regulation of protein serine/threonine kinase activity (IDA)

positive regulation of toll-like receptor 7 signaling pathway (IDA)

positive regulation of toll-like receptor 8 signaling pathway (IDA)

positive regulation of transcription by RNA polymerase II (IDA,IMP)

positive regulation of translation (IDA,IMP)

positive regulation of translation in response to endoplasmic reticulum stress (IMP)

positive regulation of translational initiation (IMP)

positive regulation of type I interferon production (IDA)

positive regulation of viral genome replication (IMP)

primary miRNA processing (IEA,ISO)

protein localization to cytoplasmic stress granule (IMP)

regulation of translation (IEA)

response to virus (IDA)

ribosome biogenesis (IEA)

RNA secondary structure unwinding (IDA)

stress granule assembly (IDA,IEA)

translational initiation (IMP)

Wnt signaling pathway (IMP)

Cellular Component

canonical inflammasome complex (IEA)

cell leading edge (IDA)

cell projection (IEA)

centrosome (IDA)

cytoplasm (IDA,IEA,IMP)

cytoplasmic stress granule (IDA,IEA)

cytoskeleton (IEA)

cytosol (IDA)

cytosolic small ribosomal subunit (IDA)

eukaryotic translation initiation factor 3 complex (IDA)

extracellular exosome (HDA)

extracellular region (TAS)

ficolin-1-rich granule lumen (TAS)

lamellipodium (IEA)

membrane (IEA)

microtubule organizing center (IEA)

NLRP3 inflammasome complex (IEA,ISS)

nucleoplasm (IDA)

nucleus (IBA,IDA,IEA)

P granule (IBA)

plasma membrane (IDA,IEA)

secretory granule lumen (TAS)

Molecular Function

ATP binding (IEA)

ATP hydrolysis activity (IDA,IEA)

cadherin binding (HDA)

CTPase activity (IDA)

DNA binding (IDA,IEA)

DNA helicase activity (IDA)

eukaryotic initiation factor 4E binding (IDA)

gamma-tubulin binding (IDA)

GTPase activity (IDA)

helicase activity (IEA)

hydrolase activity (IEA)

mRNA 5'-UTR binding (IDA)

mRNA binding (IDA)

nucleic acid binding (IEA)

nucleotide binding (IEA)

poly(A) binding (IDA)

primary miRNA binding (IEA)

protein binding (IPI)

protein serine/threonine kinase activator activity (IDA)

ribonucleoside triphosphate phosphatase activity (IDA)

ribosomal small subunit binding (IDA)

RNA binding (HDA,IBA,IDA,IEA)

RNA helicase activity (IBA,IDA,IEA,TAS)

RNA stem-loop binding (IDA)

RNA strand annealing activity (IDA)

signaling adaptor activity (IDA)

translation initiation factor binding (IDA)

Molecular Pathway Annotations Click to see Annotation Detail View

Retinoic acid-inducible gene (RIG) I-like receptor signaling pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal cerebral morphology (IAGP)

Abnormal facial shape (IAGP)

Abnormality of skin pigmentation (IAGP)

Abnormality of vision (IAGP)

Aggressive behavior (IAGP)

Anteverted nares (IAGP)

Autism (IAGP)

Autistic behavior (IAGP)

Bifid uvula (IAGP)

Brachycephaly (IAGP)

Broad-based gait (IAGP)

Bulbous nose (IAGP)

Cerebellar hypoplasia (IAGP)

Cerebellar vermis hypoplasia (IAGP)

Cleft palate (IAGP)

Cleft upper lip (IAGP)

Cortical dysplasia (IAGP)

Decreased body weight (IAGP)

Dyskinesia (IAGP)

Dysplastic pulmonary valve (IAGP)

Generalized hypotonia (IAGP)

Global developmental delay (IAGP)

Hearing impairment (IAGP)

Hyperactivity (IAGP)

Hypertelorism (IAGP)

Hypoplasia of the corpus callosum (IAGP)

Hypotonia (IAGP)

Infantile onset (IAGP)

Intellectual disability (IAGP)

Joint laxity (IAGP)

Long face (IAGP)

Medulloblastoma (IAGP)

Microcephaly (IAGP)

Neurodevelopmental abnormality (IAGP)

Neurodevelopmental delay (IAGP)

Orofacial cleft (IAGP)

Precocious puberty (IAGP)

Scoliosis (IAGP)

Seizure (IAGP)

Spasticity (IAGP)

Strabismus (IAGP)

Ventriculomegaly (IAGP)

Visual impairment (IAGP)

Wide nasal bridge (IAGP)

X-linked dominant inheritance (IAGP)

X-linked recessive inheritance (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	DNA Damage, Liver Injury, and Tumorigenesis: Consequences of DDX3X Loss.	Chan CH, etal., Mol Cancer Res. 2019 Feb;17(2):555-566. doi: 10.1158/1541-7786.MCR-18-0551. Epub 2018 Oct 8.
2.	DDX3, a DEAD box RNA helicase, is deregulated in hepatitis virus-associated hepatocellular carcinoma and is involved in cell growth control.	Chang PC, etal., Oncogene. 2006 Mar 30;25(14):1991-2003. doi: 10.1038/sj.onc.1209239.
3.	Avenanthramide A triggers potent ROS-mediated anti-tumor effects in colorectal cancer by directly targeting DDX3.	Fu R, etal., Cell Death Dis. 2019 Aug 7;10(8):593. doi: 10.1038/s41419-019-1825-5.
4.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
5.	DDX3 promotes tumor invasion in colorectal cancer via the CK1ε/Dvl2 axis.	He TY, etal., Sci Rep. 2016 Feb 19;6:21483. doi: 10.1038/srep21483.
6.	Nuclear DDX3 expression predicts poor outcome in colorectal and breast cancer.	Heerma van Voss MR, etal., Onco Targets Ther. 2017 Jul 17;10:3501-3513. doi: 10.2147/OTT.S140639. eCollection 2017.
7.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
8.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
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.	Ketorolac salt is a newly discovered DDX3 inhibitor to treat oral cancer.	Samal SK, etal., Sci Rep. 2015 Apr 28;5:9982. doi: 10.1038/srep09982.
13.	DDX3 as a strongest prognosis marker and its downregulation promotes metastasis in colorectal cancer.	Su CY, etal., Oncotarget. 2015 Jul 30;6(21):18602-12.
14.	Rottlerin upregulates DDX3 expression in hepatocellular carcinoma.	Wang Z, etal., Biochem Biophys Res Commun. 2018 Jan 1;495(1):1503-1509. doi: 10.1016/j.bbrc.2017.11.198. Epub 2017 Dec 2.
15.	DDX3 enhances oncogenic KRAS‑induced tumor invasion in colorectal cancer via the β‑catenin/ZEB1 axis.	Wu DW, etal., Oncotarget. 2016 Apr 19;7(16):22687-99. doi: 10.18632/oncotarget.8143.

Additional References at PubMed

PMID:9381176	PMID:9730595	PMID:10074132	PMID:10329544	PMID:10336476	PMID:10859333	PMID:11256614	PMID:11710523	PMID:12477932	PMID:14559993	PMID:14729942	PMID:14743216
PMID:15047060	PMID:15161933	PMID:15231748	PMID:15489334	PMID:15507209	PMID:15516266	PMID:15588285	PMID:15592455	PMID:15998806	PMID:16055720	PMID:16094384	PMID:16097034
PMID:16159877	PMID:16341674	PMID:16344560	PMID:16354571	PMID:16611982	PMID:16712791	PMID:16818630	PMID:17108031	PMID:17353931	PMID:17357160	PMID:17401195	PMID:17620599
PMID:17631897	PMID:17661632	PMID:17667941	PMID:17696464	PMID:17855521	PMID:18029348	PMID:18187620	PMID:18247557	PMID:18259889	PMID:18264132	PMID:18320585	PMID:18377426
PMID:18508616	PMID:18583960	PMID:18596238	PMID:18628297	PMID:18632687	PMID:18636090	PMID:18729074	PMID:18845156	PMID:18846110	PMID:18976975	PMID:18985028	PMID:19056867
PMID:19135240	PMID:19149558	PMID:19199708	PMID:19322201	PMID:19380743	PMID:19394292	PMID:19454010	PMID:19738201	PMID:19782656	PMID:19793905	PMID:19913487	PMID:19961560
PMID:20018238	PMID:20020773	PMID:20080577	PMID:20127681	PMID:20131911	PMID:20308691	PMID:20348541	PMID:20458337	PMID:20508642	PMID:20657822	PMID:20811636	PMID:20837705
PMID:20862261	PMID:20890123	PMID:21080425	PMID:21081503	PMID:21081666	PMID:21145461	PMID:21170385	PMID:21182205	PMID:21237216	PMID:21280222	PMID:21319273	PMID:21358275
PMID:21360055	PMID:21428961	PMID:21448281	PMID:21549307	PMID:21575865	PMID:21589879	PMID:21698775	PMID:21726808	PMID:21730191	PMID:21873635	PMID:21883093	PMID:21942715
PMID:22113938	PMID:22145905	PMID:22174317	PMID:22210892	PMID:22268729	PMID:22270009	PMID:22323517	PMID:22412018	PMID:22492871	PMID:22616990	PMID:22623428	PMID:22658674
PMID:22681889	PMID:22810585	PMID:22863883	PMID:22872150	PMID:22939629	PMID:23084401	PMID:23125841	PMID:23151878	PMID:23330003	PMID:23402259	PMID:23410059	PMID:23413191
PMID:23438482	PMID:23463506	PMID:23478265	PMID:23527197	PMID:23584477	PMID:23606618	PMID:23608157	PMID:23663784	PMID:23673860	PMID:23754689	PMID:23816991	PMID:23840900
PMID:23974721	PMID:24140279	PMID:24169621	PMID:24183723	PMID:24189637	PMID:24244333	PMID:24248602	PMID:24330569	PMID:24332808	PMID:24418539	PMID:24453475	PMID:24457600
PMID:24584351	PMID:24639526	PMID:24711643	PMID:24855944	PMID:24965446	PMID:25039764	PMID:25043297	PMID:25144556	PMID:25188302	PMID:25208899	PMID:25231298	PMID:25315684
PMID:25324306	PMID:25343452	PMID:25377784	PMID:25382417	PMID:25437271	PMID:25437307	PMID:25468996	PMID:25496916	PMID:25515538	PMID:25538732	PMID:25631074	PMID:25678563
PMID:25723178	PMID:25724843	PMID:25740981	PMID:25756610	PMID:25796446	PMID:25820276	PMID:25921289	PMID:25948554	PMID:25963833	PMID:26030138	PMID:26100019	PMID:26167880
PMID:26174373	PMID:26192917	PMID:26209609	PMID:26217791	PMID:26235985	PMID:26290144	PMID:26311743	PMID:26337079	PMID:26344197	PMID:26364611	PMID:26454002	PMID:26496610
PMID:26598523	PMID:26638075	PMID:26643866	PMID:26673895	PMID:26693507	PMID:26760575	PMID:26777405	PMID:26816005	PMID:27012366	PMID:27025967	PMID:27058758	PMID:27105836
PMID:27118832	PMID:27159028	PMID:27180681	PMID:27300509	PMID:27344963	PMID:27507811	PMID:27545878	PMID:27546789	PMID:27586307	PMID:27591049	PMID:27609421	PMID:27684187
PMID:27736973	PMID:27976729	PMID:27980081	PMID:27999982	PMID:28027390	PMID:28128295	PMID:28148788	PMID:28327206	PMID:28371085	PMID:28380382	PMID:28402257	PMID:28416769
PMID:28431233	PMID:28435452	PMID:28515276	PMID:28533407	PMID:28611246	PMID:28718761	PMID:28733330	PMID:28842590	PMID:28902428	PMID:28927264	PMID:28977666	PMID:28986522
PMID:29053956	PMID:29062139	PMID:29222110	PMID:29228324	PMID:29229926	PMID:29261807	PMID:29331416	PMID:29395067	PMID:29490693	PMID:29491746	PMID:29507755	PMID:29511296
PMID:29580812	PMID:29621097	PMID:29735542	PMID:29778605	PMID:29782654	PMID:29802200	PMID:29844126	PMID:29845934	PMID:29884807	PMID:29899501	PMID:29921696	PMID:29955894
PMID:30001425	PMID:30131165	PMID:30209976	PMID:30256975	PMID:30320910	PMID:30341167	PMID:30349055	PMID:30425250	PMID:30429220	PMID:30442662	PMID:30459231	PMID:30462309
PMID:30463901	PMID:30531905	PMID:30559450	PMID:30575818	PMID:30585729	PMID:30619335	PMID:30711629	PMID:30734472	PMID:30737378	PMID:30804502	PMID:30809309	PMID:30816053
PMID:30926334	PMID:30936465	PMID:30940648	PMID:30948266	PMID:30979777	PMID:31048545	PMID:31059266	PMID:31091453	PMID:31172579	PMID:31178390	PMID:31180492	PMID:31216476
PMID:31235588	PMID:31239290	PMID:31253590	PMID:31300519	PMID:31300642	PMID:31409639	PMID:31501420	PMID:31511697	PMID:31527668	PMID:31568920	PMID:31575075	PMID:31587919
PMID:31620119	PMID:31665637	PMID:31762063	PMID:31974865	PMID:32041737	PMID:32051553	PMID:32135084	PMID:32460013	PMID:32529326	PMID:32552912	PMID:32553121	PMID:32626994
PMID:32665550	PMID:32687490	PMID:32698014	PMID:32780723	PMID:32786267	PMID:32807901	PMID:32814053	PMID:32814086	PMID:32814769	PMID:32850835	PMID:32852922	PMID:32905556
PMID:32929329	PMID:32994395	PMID:33022573	PMID:33024031	PMID:33029523	PMID:33087562	PMID:33106406	PMID:33137198	PMID:33239621	PMID:33306668	PMID:33378683	PMID:33386519
PMID:33397691	PMID:33460649	PMID:33536335	PMID:33545068	PMID:33567341	PMID:33627125	PMID:33644029	PMID:33658012	PMID:33705438	PMID:33742100	PMID:33766124	PMID:33781803
PMID:33905506	PMID:33916271	PMID:33931637	PMID:33941613	PMID:33974127	PMID:33993884	PMID:34026424	PMID:34079125	PMID:34083132	PMID:34244565	PMID:34265304	PMID:34270554
PMID:34373451	PMID:34431227	PMID:34437837	PMID:34445801	PMID:34575922	PMID:34606682	PMID:34650049	PMID:34654425	PMID:34708395	PMID:34709727	PMID:34728620	PMID:34795231
PMID:34841685	PMID:34954155	PMID:35013218	PMID:35032548	PMID:35121200	PMID:35121978	PMID:35178128	PMID:35236544	PMID:35256949	PMID:35271311	PMID:35273248	PMID:35439318
PMID:35446349	PMID:35460172	PMID:35478276	PMID:35509820	PMID:35546148	PMID:35562734	PMID:35563538	PMID:35588748	PMID:35676659	PMID:35681168	PMID:35710093	PMID:35819319
PMID:35831314	PMID:35844135	PMID:35844798	PMID:35850772	PMID:35944360	PMID:36042349	PMID:36057605	PMID:36159747	PMID:36168627	PMID:36180891	PMID:36199071	PMID:36215168
PMID:36261009	PMID:36266428	PMID:36303180	PMID:36597176	PMID:36603305	PMID:36762613	PMID:36907112	PMID:36982856	PMID:37149668

Genomics

Comparative Map Data

DDX3X
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	41,333,308 - 41,364,472 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	X	41,333,348 - 41,364,472 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	41,192,561 - 41,223,725 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	41,077,595 - 41,094,471 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	40,948,904 - 40,979,978	NCBI
Celera	X	45,333,407 - 45,350,283 (+)	NCBI		Celera
Cytogenetic Map	X	p11.4	NCBI
HuRef	X	38,924,970 - 38,941,587 (+)	NCBI		HuRef
CHM1_1	X	41,225,367 - 41,242,242 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	40,735,393 - 40,766,556 (+)	NCBI		T2T-CHM13v2.0

Ddx3x
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	13,147,261 - 13,160,222 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	13,147,209 - 13,160,291 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	13,280,496 - 13,293,988 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	13,280,970 - 13,294,052 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	12,858,148 - 12,871,109 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	12,437,997 - 12,449,573 (+)	NCBI		MGSCv36	mm8
Celera	X	10,940,806 - 10,968,272 (+)	NCBI		Celera
Cytogenetic Map	X	A1.1	NCBI
cM Map	X	8.17	NCBI

Ddx3x
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	X	9,479,532 - 9,493,455 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	9,479,532 - 9,493,168 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	9,663,528 - 9,677,065 (-)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	X	13,160,667 - 13,174,198 (-)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	X	9,425,314 - 9,438,972 (-)	NCBI	Rnor_WKY
Rnor_6.0	X	10,400,363 - 10,414,010 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	10,400,366 - 10,413,995 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	11,198,745 - 11,212,383 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	21,495,072 - 21,508,690 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	X	10,011,280 - 10,024,898 (-)	NCBI		Celera
Cytogenetic Map	X	q12	NCBI

Ddx3x
(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_004955565	1,386,973 - 1,404,220 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955565	1,387,043 - 1,403,624 (-)	NCBI	ChiLan1.0	ChiLan1.0

DDX3X
(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	X	42,981,694 - 42,998,747 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	33,780,381 - 33,796,829 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	41,474,515 - 41,491,479 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	41,475,116 - 41,505,837 (+)	Ensembl	panpan1.1		panPan2

DDX3X
(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	35,759,367 - 35,789,759 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	35,759,416 - 35,789,774 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	23,107,814 - 23,138,223 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	35,809,592 - 35,840,330 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	35,809,593 - 35,840,343 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	35,887,325 - 35,918,053 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	35,859,851 - 35,889,927 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	35,902,946 - 35,933,679 (+)	NCBI		UU_Cfam_GSD_1.0

Ddx3x
(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	27,967,669 - 27,979,844 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936502	7,804,824 - 7,820,569 (+)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936502	7,770,896 - 7,820,555 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

DDX3X
(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	36,988,031 - 37,018,202 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	36,988,031 - 37,005,496 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	41,162,232 - 41,177,756 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

DDX3X
(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	38,513,251 - 38,539,982 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666076	3,696,930 - 3,714,667 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ddx3x
(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_004624762	14,290,267 - 14,305,633 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624762	14,290,267 - 14,305,437 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in DDX3X
435 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001356.5(DDX3X):c.1181G>A (p.Arg394His)	single nucleotide variant	not provided [RCV000519312]	ChrX:41345414 [GRCh38] ChrX:41204667 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.979C>G (p.Leu327Val)	single nucleotide variant	not provided [RCV000523594]	ChrX:41344353 [GRCh38] ChrX:41203606 [GRCh37] ChrX:Xp11.4	likely pathogenic\|uncertain significance
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV003151079]\|X-linked intellectual disability-hypotonia-movement disorder syndrome [RCV002287420]\|not provided [RCV000523821]	ChrX:41346336 [GRCh38] ChrX:41205589 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.1806C>G (p.Tyr602Ter)	single nucleotide variant	Intellectual disability [RCV001526615]	ChrX:41347348 [GRCh38] ChrX:41206601 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1316-7A>T	single nucleotide variant	not provided [RCV001564251]	ChrX:41346222 [GRCh38] ChrX:41205475 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)	single nucleotide variant	Inborn genetic diseases [RCV002314917]\|Intellectual disability, X-linked 102 [RCV001174975]\|See cases [RCV003156102]\|not provided [RCV000519583]	ChrX:41344248 [GRCh38] ChrX:41203501 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.1601dup (p.Val535fs)	duplication	Inborn genetic diseases [RCV000624510]	ChrX:41346607..41346608 [GRCh38] ChrX:41205860..41205861 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.679+3_679+4inv	inversion	not provided [RCV000523217]	ChrX:41343354..41343355 [GRCh38] ChrX:41202607..41202608 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1868G>T (p.Ser623Ile)	single nucleotide variant	not provided [RCV000523261]	ChrX:41347410 [GRCh38] ChrX:41206663 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.544-1G>T	single nucleotide variant	not provided [RCV000521736]	ChrX:41343215 [GRCh38] ChrX:41202468 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1769+1G>A	single nucleotide variant	Inborn genetic diseases [RCV000624644]\|not provided [RCV000519464]	ChrX:41347013 [GRCh38] ChrX:41206266 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1575T>A (p.Tyr525Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001196847]	ChrX:41346582 [GRCh38] ChrX:41205835 [GRCh37] ChrX:Xp11.4	likely 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 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: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 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 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 Xp22.33-11.22(chrX:10679-52809182)x1	copy number loss	See cases [RCV000051026]	ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22	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 Xp22.33-11.3(chrX:675360-46016699)x3	copy number gain	See cases [RCV000052328]	ChrX:675360..46016699 [GRCh38] ChrX:636095..45876134 [GRCh37] ChrX:556095..45761078 [NCBI36] ChrX:Xp22.33-11.3	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 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-q22.1(chrX:675360-100368517)x1	copy number loss	See cases [RCV000053005]	ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1	copy number loss	See cases [RCV000052981]	ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23	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 Xp22.33-11.21(chrX:26102-57302794)x1	copy number loss	See cases [RCV000052990]	ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	copy number loss	See cases [RCV000052994]	ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1	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
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	copy number loss	See cases [RCV000053007]	ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|See cases [RCV000052971]	ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3	copy number gain	See cases [RCV000053817]	ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000660645]	ChrX:41346399 [GRCh38] ChrX:41205652 [GRCh37] ChrX:Xp11.4	likely pathogenic
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
NM_001356.5(DDX3X):c.1052G>C (p.Arg351Pro)	single nucleotide variant	not provided [RCV003221432]	ChrX:41345206 [GRCh38] ChrX:41204459 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1520T>C (p.Ile507Thr)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000190551]	ChrX:41346527 [GRCh38] ChrX:41205780 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.977G>A (p.Arg326His)	single nucleotide variant	Inborn genetic diseases [RCV000623237]\|Intellectual disability, X-linked 102 [RCV000190552]\|not provided [RCV000521776]	ChrX:41344351 [GRCh38] ChrX:41203604 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.873C>A (p.Tyr291Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000190553]	ChrX:41344247 [GRCh38] ChrX:41203500 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000190554]\|not provided [RCV002254914]	ChrX:41345238 [GRCh38] ChrX:41204491 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.202_205dup (p.Tyr69fs)	duplication	not provided [RCV000514961]	ChrX:41341532..41341533 [GRCh38] ChrX:41200785..41200786 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.904G>A (p.Gly302Ser)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000211100]	ChrX:41344278 [GRCh38] ChrX:41203531 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.846C>A (p.Ile282=)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001332989]	ChrX:41344110 [GRCh38] ChrX:41203363 [GRCh37] ChrX:Xp11.4	uncertain significance
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: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 Xp22.33-11.22(chrX:10701-52857805)x1	copy number loss	See cases [RCV000133817]	ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
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: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: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
NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000211113]	ChrX:41343249 [GRCh38] ChrX:41202502 [GRCh37] ChrX:Xp11.4	pathogenic\|likely 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 Xp22.33-11.23(chrX:10679-50059388)x1	copy number loss	See cases [RCV000133745]	ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23	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 Xp22.33-q11.1(chrX:10701-62712219)x1	copy number loss	See cases [RCV000134568]	ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1	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 Xp22.33-11.21(chrX:10701-58055053)x1	copy number loss	See cases [RCV000134026]	ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21	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 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 Xp22.31-11.22(chrX:8176030-53962833)x1	copy number loss	See cases [RCV000135305]	ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	copy number gain	See cases [RCV000134957]	ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22	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 Xp11.4(chrX:40883294-41689223)x2	copy number gain	See cases [RCV000135419]	ChrX:40883294..41689223 [GRCh38] ChrX:40742547..41548476 [GRCh37] ChrX:40627491..41433420 [NCBI36] ChrX:Xp11.4	uncertain significance
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 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 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	copy number loss	See cases [RCV000137112]	ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	copy number gain	See cases [RCV000137137]	ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3	pathogenic\|likely benign
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 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 Xp22.33-11.22(chrX:10701-52033734)x1	copy number loss	See cases [RCV000137430]	ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	copy number loss	See cases [RCV000137552]	ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	copy number loss	See cases [RCV000137166]	ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	copy number loss	See cases [RCV000137413]	ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	copy number loss	See cases [RCV000137886]	ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	copy number loss	See cases [RCV000139343]	ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1	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 Xp22.33-q21.31(chrX:10701-88318651)x1	copy number loss	See cases [RCV000139352]	ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31	pathogenic
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 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 Xp22.33-11.22(chrX:10701-53750424)x1	copy number loss	See cases [RCV000140711]	ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22	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 Xp22.33-11.22(chrX:251879-50289363)x1	copy number loss	See cases [RCV000141741]	ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	copy number loss	See cases [RCV000142334]	ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	copy number loss	See cases [RCV000142035]	ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	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 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 Xp22.33-11.22(chrX:10701-53131191)x1	copy number loss	See cases [RCV000143348]	ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	copy number loss	See cases [RCV000143130]	ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21	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
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_001356.5(DDX3X):c.635C>A (p.Pro212His)	single nucleotide variant	not provided [RCV000255056]	ChrX:41343307 [GRCh38] ChrX:41202560 [GRCh37] ChrX:Xp11.4	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
NM_001356.5(DDX3X):c.444-10T>C	single nucleotide variant	not provided [RCV001765323]	ChrX:41342727 [GRCh38] ChrX:41201980 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001193416.2(DDX3X):c.698C>T (p.Ala233Val)	single nucleotide variant	not provided [RCV000190100]	ChrX:41343755 [GRCh38] ChrX:41203008 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.704T>C (p.Leu235Pro)	single nucleotide variant	Inborn genetic diseases [RCV002364978]	ChrX:41343761 [GRCh38] ChrX:41203014 [GRCh37] ChrX:Xp11.4	pathogenic\|uncertain significance
NM_001193416.2(DDX3X):c.944G>T (p.Arg315Leu)	single nucleotide variant	not provided [RCV000190102]	ChrX:41344318 [GRCh38] ChrX:41203571 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002287387]\|Neurodevelopmental abnormality [RCV001264651]\|not provided [RCV000190103]	ChrX:41346548 [GRCh38] ChrX:41205801 [GRCh37] ChrX:Xp11.4	pathogenic\|conflicting interpretations of pathogenicity
NM_001356.5(DDX3X):c.1321del (p.Asp441fs)	deletion	not provided [RCV000190104]	ChrX:41346233 [GRCh38] ChrX:41205486 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001193416.2(DDX3X):c.1383dupA (p.Tyr462Ilefs)	duplication	not provided [RCV000190105]	ChrX:41346296 [GRCh38] ChrX:41205549 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.4(DDX3X):c.1384_1385dupTA (p.His463Thrfs)	duplication	not provided [RCV000190106]	ChrX:41346297..41346298 [GRCh38] ChrX:41205550..41205551 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs)	deletion	Inborn genetic diseases [RCV002317665]\|Intellectual disability, X-linked 102 [RCV001093539]\|Rare genetic intellectual disability [RCV001256979]\|X-linked intellectual disability-hypotonia-movement disorder syndrome [RCV002287388]\|not provided [RCV000190107]	ChrX:41346542..41346543 [GRCh38] ChrX:41205795..41205796 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)	single nucleotide variant	Congenital cerebellar hypoplasia [RCV001257982]\|Intellectual disability, X-linked 102 [RCV000190550]\|not provided [RCV001310709]	ChrX:41345280 [GRCh38] ChrX:41204533 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.1175T>C (p.Leu392Pro)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001706923]	ChrX:41345408 [GRCh38] ChrX:41204661 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001193416.2(DDX3X):c.1250A>C (p.Gln417Pro)	single nucleotide variant	not provided [RCV000190110]	ChrX:41345483 [GRCh38] ChrX:41204736 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1462C>T (p.Arg488Cys)	single nucleotide variant	Inborn genetic diseases [RCV001266548]\|not provided [RCV000505799]	ChrX:41346375 [GRCh38] ChrX:41205628 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000656416]\|not provided [RCV000190112]	ChrX:41346376 [GRCh38] ChrX:41205629 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001356.5(DDX3X):c.1490C>T (p.Ala497Val)	single nucleotide variant	Inborn genetic diseases [RCV001265760]\|Intellectual disability, X-linked 102 [RCV003144153]\|not provided [RCV001857666]	ChrX:41346403 [GRCh38] ChrX:41205656 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.4(DDX3X):c.599dupA (p.Tyr200Terfs)	duplication	not provided [RCV000190114]	ChrX:41343271 [GRCh38] ChrX:41202524 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1210del (p.Ala404fs)	deletion	not provided [RCV000505734]	ChrX:41345442 [GRCh38] ChrX:41204695 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001193416.2(DDX3X):c.9_15delTGTGGCA (p.His3Glnfs)	deletion	not provided [RCV000190116]	ChrX:41334261..41334267 [GRCh38] ChrX:41193514..41193520 [GRCh37] ChrX:Xp11.4	pathogenic
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 Xp22.33-11.21(chrX:70297-58066465)x3	copy number gain	See cases [RCV000239834]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	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 Xp22.33-11.21(chrX:70297-58066465)x1	copy number loss	See cases [RCV000239814]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001356.5(DDX3X):c.745G>T (p.Glu249Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000209908]	ChrX:41343802 [GRCh38] ChrX:41203055 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.619C>T (p.Gln207Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000209890]	ChrX:41343291 [GRCh38] ChrX:41202544 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.865-1G>C	single nucleotide variant	Inborn genetic diseases [RCV000623458]\|not provided [RCV001093495]	ChrX:41344238 [GRCh38] ChrX:41203491 [GRCh37] ChrX:Xp11.4	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:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	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
NM_001356.5(DDX3X):c.543+5G>A	single nucleotide variant	not provided [RCV000579039]	ChrX:41342841 [GRCh38] ChrX:41202094 [GRCh37] ChrX:Xp11.4	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
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000625959]\|not provided [RCV002533147]	ChrX:41346607 [GRCh38] ChrX:41205860 [GRCh37] ChrX:Xp11.4	pathogenic\|likely 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 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [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
NM_001356.5(DDX3X):c.1462del (p.Arg488fs)	deletion	not provided [RCV000327317]	ChrX:41346374 [GRCh38] ChrX:41205627 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter)	single nucleotide variant	Intellectual disability [RCV001260598]\|Intellectual disability, X-linked 102 [RCV000767345]\|not provided [RCV000328364]	ChrX:41347349 [GRCh38] ChrX:41206602 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.80dup (p.Ser28fs)	duplication	not provided [RCV000368239]	ChrX:41337441..41337442 [GRCh38] ChrX:41196694..41196695 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.233C>G (p.Ser78Ter)	single nucleotide variant	Inborn genetic diseases [RCV001266460]\|not provided [RCV000371670]	ChrX:41341565 [GRCh38] ChrX:41200818 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1712T>C (p.Leu571Ser)	single nucleotide variant	not provided [RCV000263868]	ChrX:41346955 [GRCh38] ChrX:41206208 [GRCh37] ChrX:Xp11.4	likely pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
NM_001356.5(DDX3X):c.1395_1399del (p.Tyr466fs)	deletion	not specified [RCV002285113]	ChrX:41346307..41346311 [GRCh38] ChrX:41205560..41205564 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.103+193dup	duplication	not provided [RCV001575223]	ChrX:41337642..41337643 [GRCh38] ChrX:41196895..41196896 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1493C>T (p.Thr498Ile)	single nucleotide variant	not provided [RCV000489888]	ChrX:41346406 [GRCh38] ChrX:41205659 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.569T>G (p.Ile190Ser)	single nucleotide variant	Inborn genetic diseases [RCV000623644]\|not provided [RCV001327010]	ChrX:41343241 [GRCh38] ChrX:41202494 [GRCh37] ChrX:Xp11.4	uncertain significance
NC_000023.10:g.(?_39911342)_(41782261_?)dup	duplication	Intellectual disability, CASK-related, X-linked [RCV003117447]\|Syndromic X-linked intellectual disability Hedera type [RCV000640920]	ChrX:39911342..41782261 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.869C>G (p.Ser290Ter)	single nucleotide variant	not provided [RCV000598714]	ChrX:41344243 [GRCh38] ChrX:41203496 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.40C>T (p.Gln14Ter)	single nucleotide variant	Intellectual disability [RCV001260599]\|not provided [RCV000598857]	ChrX:41334292 [GRCh38] ChrX:41193545 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.241_242insCTT (p.Lys81delinsThrTer)	insertion	not provided [RCV000598952]	ChrX:41341573..41341574 [GRCh38] ChrX:41200826..41200827 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.819delinsCT (p.Pro274fs)	indel	not provided [RCV000598898]	ChrX:41344083 [GRCh38] ChrX:41203336 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del)	microsatellite	Intellectual disability [RCV001260756]\|Intellectual disability, X-linked 102 [RCV001255961]\|not provided [RCV000599287]	ChrX:41346917..41346919 [GRCh38] ChrX:41206170..41206172 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.592A>C (p.Thr198Pro)	single nucleotide variant	not provided [RCV000522090]	ChrX:41343264 [GRCh38] ChrX:41202517 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.110_111dup (p.Tyr38fs)	microsatellite	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626446]	ChrX:41339039..41339040 [GRCh38] ChrX:41198292..41198293 [GRCh37] ChrX:Xp11.4	drug response
NM_001356.5(DDX3X):c.489C>G (p.Tyr163Ter)	single nucleotide variant	not provided [RCV000627323]	ChrX:41342782 [GRCh38] ChrX:41202035 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000414932]	ChrX:41345206 [GRCh38] ChrX:41204459 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del)	microsatellite	Inborn genetic diseases [RCV001267128]\|Intellectual disability, X-linked 102 [RCV001706658]\|not provided [RCV000523985]	ChrX:41344333..41344335 [GRCh38] ChrX:41203586..41203588 [GRCh37] ChrX:Xp11.4	pathogenic\|uncertain significance
NM_001356.5(DDX3X):c.372_373del (p.Asn124fs)	deletion	Intellectual disability, X-linked 102 [RCV002466495]\|not provided [RCV000413210]	ChrX:41342581..41342582 [GRCh38] ChrX:41201834..41201835 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1484T>C (p.Leu495Ser)	single nucleotide variant	not provided [RCV000413345]	ChrX:41346397 [GRCh38] ChrX:41205650 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1033G>C (p.Val345Leu)	single nucleotide variant	Medulloblastoma [RCV000505622]	ChrX:41345187 [GRCh38] ChrX:41204440 [GRCh37] ChrX:Xp11.4	other
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1	copy number loss	not provided [RCV000753274]	ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
NM_001356.5(DDX3X):c.1592G>A (p.Arg531His)	single nucleotide variant	Medulloblastoma [RCV000505558]	ChrX:41346599 [GRCh38] ChrX:41205852 [GRCh37] ChrX:Xp11.4	other
NM_001356.5(DDX3X):c.1695A>C (p.Gln565His)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002292696]	ChrX:41346938 [GRCh38] ChrX:41206191 [GRCh37] ChrX:Xp11.4	likely pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3	copy number gain	See cases [RCV000449393]	ChrX:168546..43917011 [GRCh37] ChrX:Xp22.33-11.3	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 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:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1	copy number loss	See cases [RCV000446584]	ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21	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 Xp22.33-11.21(chrX:168546-56684082)x1	copy number loss	See cases [RCV000447092]	ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1	copy number loss	See cases [RCV000447470]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	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 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
NM_001356.5(DDX3X):c.770dup (p.Asn257fs)	duplication	Intellectual disability, X-linked 102 [RCV000505230]	ChrX:41344030..41344031 [GRCh38] ChrX:41203283..41203284 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1099dup (p.Gln367fs)	duplication	Intellectual disability, X-linked 102 [RCV000505208]\|See cases [RCV001420280]	ChrX:41345252..41345253 [GRCh38] ChrX:41204505..41204506 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1667T>C (p.Leu556Ser)	single nucleotide variant	not provided [RCV000424111]	ChrX:41346910 [GRCh38] ChrX:41206163 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.675A>G (p.Gln225=)	single nucleotide variant	not specified [RCV000419369]	ChrX:41343347 [GRCh38] ChrX:41202600 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1226G>A (p.Gly409Asp)	single nucleotide variant	Inborn genetic diseases [RCV000624401]\|not provided [RCV000433202]	ChrX:41345459 [GRCh38] ChrX:41204712 [GRCh37] ChrX:Xp11.4	likely pathogenic\|uncertain significance
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1	copy number loss	See cases [RCV000446005]	ChrX:36667388..44316141 [GRCh37] ChrX:Xp21.1-11.3	pathogenic
NM_001356.5(DDX3X):c.968C>T (p.Thr323Ile)	single nucleotide variant	not provided [RCV000434513]	ChrX:41344342 [GRCh38] ChrX:41203595 [GRCh37] ChrX:Xp11.4	likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	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
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 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu)	single nucleotide variant	Inborn genetic diseases [RCV000622529]\|Intellectual disability, X-linked 102 [RCV000416455]\|not provided [RCV001093496]	ChrX:41346946 [GRCh38] ChrX:41206199 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.362G>T (p.Arg121Leu)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000416457]	ChrX:41342572 [GRCh38] ChrX:41201825 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.192dup (p.Asp65fs)	duplication	Intellectual disability, X-linked 102 [RCV000416474]	ChrX:41341521..41341522 [GRCh38] ChrX:41200774..41200775 [GRCh37] ChrX:Xp11.4	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 Xp22.33-11.1(chrX:168546-58140271)x1	copy number loss	See cases [RCV000447773]	ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:40933552-45379179)x2	copy number gain	See cases [RCV000448864]	ChrX:40933552..45379179 [GRCh37] ChrX:Xp11.4-11.3	likely pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	copy number loss	See cases [RCV000512142]	ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3	pathogenic
NM_001356.5(DDX3X):c.659T>C (p.Leu220Ser)	single nucleotide variant	not provided [RCV000482407]	ChrX:41343331 [GRCh38] ChrX:41202584 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.443A>G (p.Gln148Arg)	single nucleotide variant	not provided [RCV000484338]	ChrX:41342653 [GRCh38] ChrX:41201906 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1676T>A (p.Leu559His)	single nucleotide variant	DDX3X-related X-linked intellectual disability [RCV001796072]\|not provided [RCV000482989]	ChrX:41346919 [GRCh38] ChrX:41206172 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001356.5(DDX3X):c.875G>A (p.Arg292Gln)	single nucleotide variant	not provided [RCV000484846]	ChrX:41344249 [GRCh38] ChrX:41203502 [GRCh37] ChrX:Xp11.4	likely pathogenic\|uncertain significance
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001253449]\|not provided [RCV000483467]	ChrX:41339053 [GRCh38] ChrX:41198306 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001310278]\|not provided [RCV000484531]	ChrX:41346602 [GRCh38] ChrX:41205855 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001824802]\|not provided [RCV000484659]	ChrX:41346589 [GRCh38] ChrX:41205842 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.148A>T (p.Lys50Ter)	single nucleotide variant	not provided [RCV000484981]	ChrX:41339080 [GRCh38] ChrX:41198333 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1256del (p.Val419fs)	deletion	not provided [RCV000477995]	ChrX:41345489 [GRCh38] ChrX:41204742 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.119C>G (p.Pro40Arg)	single nucleotide variant	Neurodevelopmental delay [RCV002274037]\|not provided [RCV000478349]	ChrX:41339051 [GRCh38] ChrX:41198304 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1438A>G (p.Arg480Gly)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV003144284]\|not provided [RCV000478814]	ChrX:41346351 [GRCh38] ChrX:41205604 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.1481T>G (p.Ile494Ser)	single nucleotide variant	not provided [RCV000485793]	ChrX:41346394 [GRCh38] ChrX:41205647 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1513C>G (p.Leu505Val)	single nucleotide variant	not provided [RCV000478952]	ChrX:41346520 [GRCh38] ChrX:41205773 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.862A>G (p.Lys288Glu)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001824805]\|not provided [RCV000479176]	ChrX:41344126 [GRCh38] ChrX:41203379 [GRCh37] ChrX:Xp11.4	pathogenic\|not provided
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001093533]\|not provided [RCV000478243]	ChrX:41341568 [GRCh38] ChrX:41200821 [GRCh37] ChrX:Xp11.4	pathogenic\|uncertain significance
NM_001356.5(DDX3X):c.1423C>G (p.Arg475Gly)	single nucleotide variant	Inborn genetic diseases [RCV001266615]\|not provided [RCV000486655]	ChrX:41346336 [GRCh38] ChrX:41205589 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	copy number loss	See cases [RCV000512136]	ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001356.5(DDX3X):c.1144A>C (p.Ser382Arg)	single nucleotide variant	not provided [RCV000480302]	ChrX:41345298 [GRCh38] ChrX:41204551 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1203CTT[1] (p.Phe402del)	microsatellite	not provided [RCV000480376]	ChrX:41345435..41345437 [GRCh38] ChrX:41204688..41204690 [GRCh37] ChrX:Xp11.4	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
NM_001356.5(DDX3X):c.1710G>A (p.Trp570Ter)	single nucleotide variant	DDX3X-Related Disorder [RCV000509440]	ChrX:41346953 [GRCh38] ChrX:41206206 [GRCh37] ChrX:Xp11.4	not provided
NM_001356.5(DDX3X):c.172T>G (p.Ser58Ala)	single nucleotide variant	not provided [RCV000497901]	ChrX:41341504 [GRCh38] ChrX:41200757 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1334T>G (p.Leu445Ter)	single nucleotide variant	not provided [RCV000497906]	ChrX:41346247 [GRCh38] ChrX:41205500 [GRCh37] ChrX:Xp11.4	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	copy number loss	See cases [RCV000510437]	ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
NM_001356.5(DDX3X):c.623del (p.Lys208fs)	deletion	not provided [RCV000498348]	ChrX:41343292 [GRCh38] ChrX:41202545 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.864+1delinsTTC	indel	not provided [RCV000493498]	ChrX:41344129 [GRCh38] ChrX:41203382 [GRCh37] ChrX:Xp11.4	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	copy number loss	See cases [RCV000512022]	ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001356.5(DDX3X):c.1498-2A>G	single nucleotide variant	Inborn genetic diseases [RCV000624206]\|not provided [RCV000493731]	ChrX:41346503 [GRCh38] ChrX:41205756 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.255del (p.Phe85fs)	deletion	Intellectual disability, X-linked 102 [RCV000678322]\|not provided [RCV000493746]	ChrX:41341587 [GRCh38] ChrX:41200840 [GRCh37] ChrX:Xp11.4	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
NM_001356.5(DDX3X):c.1588G>T (p.Gly530Cys)	single nucleotide variant	Medulloblastoma [RCV000505686]	ChrX:41346595 [GRCh38] ChrX:41205848 [GRCh37] ChrX:Xp11.4	other
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	copy number loss	See cases [RCV000512026]	ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1	pathogenic
GRCh37/hg19 Xp11.4-11.23(chrX:41150139-46528262)x1	copy number loss	See cases [RCV000511364]	ChrX:41150139..46528262 [GRCh37] ChrX:Xp11.4-11.23	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001356.5(DDX3X):c.748G>A (p.Ala250Thr)	single nucleotide variant	not specified [RCV000492974]	ChrX:41343805 [GRCh38] ChrX:41203058 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.152-1G>C	single nucleotide variant	not provided [RCV000493150]	ChrX:41341483 [GRCh38] ChrX:41200736 [GRCh37] ChrX:Xp11.4	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	copy number loss	See cases [RCV000511615]	ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001356.5(DDX3X):c.641_643delinsCC (p.Ile214fs)	indel	DDX3X-Related Disorder [RCV001249289]\|not provided [RCV000493357]	ChrX:41343313..41343315 [GRCh38] ChrX:41202566..41202568 [GRCh37] ChrX:Xp11.4	pathogenic\|not provided
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	copy number loss	See cases [RCV000510822]	ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001356.5(DDX3X):c.1276_1279del (p.Asp426fs)	deletion	Inborn genetic diseases [RCV000624480]	ChrX:41345507..41345510 [GRCh38] ChrX:41204760..41204763 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.3G>C (p.Met1Ile)	single nucleotide variant	Inborn genetic diseases [RCV000622971]	ChrX:41334255 [GRCh38] ChrX:41193508 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.976C>T (p.Arg326Cys)	single nucleotide variant	Inborn genetic diseases [RCV000624280]\|Intellectual disability, X-linked 102 [RCV001007875]	ChrX:41344350 [GRCh38] ChrX:41203603 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000656409]\|not provided [RCV002534244]	ChrX:41339045 [GRCh38] ChrX:41198298 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.766-11T>C	single nucleotide variant	not specified [RCV000608143]	ChrX:41344019 [GRCh38] ChrX:41203272 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.784C>T (p.Arg262Cys)	single nucleotide variant	Inborn genetic diseases [RCV000623442]	ChrX:41344048 [GRCh38] ChrX:41203301 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.616G>A (p.Val206Met)	single nucleotide variant	Inborn genetic diseases [RCV000623907]	ChrX:41343288 [GRCh38] ChrX:41202541 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.284+1G>C	single nucleotide variant	Inborn genetic diseases [RCV000624748]	ChrX:41341617 [GRCh38] ChrX:41200870 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.749_750insGCCTC (p.Leu251fs)	insertion	not provided [RCV000656239]	ChrX:41343805..41343806 [GRCh38] ChrX:41203058..41203059 [GRCh37] ChrX:Xp11.4	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	copy number loss	See cases [RCV000512339]	ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001356.5(DDX3X):c.1454dup (p.His485fs)	duplication	not provided [RCV000627502]	ChrX:41346366..41346367 [GRCh38] ChrX:41205619..41205620 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1699G>C (p.Val567Leu)	single nucleotide variant	not provided [RCV000659154]	ChrX:41346942 [GRCh38] ChrX:41206195 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1616-4_1616-3del	deletion	not provided [RCV000658325]	ChrX:41346853..41346854 [GRCh38] ChrX:41206106..41206107 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1284dup (p.Ser429fs)	duplication	not provided [RCV000657547]	ChrX:41345515..41345516 [GRCh38] ChrX:41204768..41204769 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.820C>T (p.Pro274Ser)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000677413]	ChrX:41344084 [GRCh38] ChrX:41203337 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1429C>G (p.Gln477Glu)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000677395]	ChrX:41346342 [GRCh38] ChrX:41205595 [GRCh37] ChrX:Xp11.4	pathogenic
Single allele	duplication	not provided [RCV000677963]	ChrX:41194996..41504859 [GRCh37] ChrX:Xp11.4	uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	copy number loss	not provided [RCV000684184]	ChrX:168546..43248706 [GRCh37] ChrX:Xp22.33-11.3	pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	copy number gain	not provided [RCV000684261]	ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31	pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	copy number loss	not provided [RCV000684185]	ChrX:168546..46908284 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
NM_001356.5(DDX3X):c.1538T>C (p.Val513Ala)	single nucleotide variant	Inborn genetic diseases [RCV002313639]	ChrX:41346545 [GRCh38] ChrX:41205798 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1770-3T>C	single nucleotide variant	Inborn genetic diseases [RCV002313632]\|not provided [RCV000964156]	ChrX:41347309 [GRCh38] ChrX:41206562 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.234A>T (p.Ser78=)	single nucleotide variant	Inborn genetic diseases [RCV002318062]\|not provided [RCV000915566]\|not specified [RCV001816776]	ChrX:41341566 [GRCh38] ChrX:41200819 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.969T>C (p.Thr323=)	single nucleotide variant	Inborn genetic diseases [RCV002312784]\|not provided [RCV000908959]	ChrX:41344343 [GRCh38] ChrX:41203596 [GRCh37] ChrX:Xp11.4	benign\|likely benign
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1	copy number loss	not provided [RCV000753273]	ChrX:60814..48317386 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
NM_001356.5(DDX3X):c.536_543+5inv	inversion	Inborn genetic diseases [RCV002318723]	ChrX:41342829..41342841 [GRCh38] ChrX:41202082..41202094 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.284+3A>T	single nucleotide variant	Inborn genetic diseases [RCV002318790]\|not provided [RCV001862063]	ChrX:41341619 [GRCh38] ChrX:41200872 [GRCh37] ChrX:Xp11.4	likely benign\|uncertain significance
NM_001356.5(DDX3X):c.1170+4C>T	single nucleotide variant	Inborn genetic diseases [RCV002318852]	ChrX:41345328 [GRCh38] ChrX:41204581 [GRCh37] ChrX:Xp11.4	uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	copy number loss	not provided [RCV000846273]	ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1	pathogenic
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1	copy number loss	not provided [RCV000753275]	ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21	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
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)x3	copy number gain	not provided [RCV000753272]	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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001356.5(DDX3X):c.1315+151C>T	single nucleotide variant	not provided [RCV001665765]	ChrX:41345699 [GRCh38] ChrX:41204952 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.45+196C>T	single nucleotide variant	not provided [RCV001667551]	ChrX:41334493 [GRCh38] ChrX:41193746 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.-72G>A	single nucleotide variant	not provided [RCV001567950]	ChrX:41334181 [GRCh38] ChrX:41193434 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.136C>T (p.Arg46Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000990793]\|not provided [RCV000760483]	ChrX:41339068 [GRCh38] ChrX:41198321 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.744C>T (p.Gly248=)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002249467]\|not provided [RCV000762623]	ChrX:41343801 [GRCh38] ChrX:41203054 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.822_824del (p.Thr275del)	deletion	not provided [RCV000762624]	ChrX:41344085..41344087 [GRCh38] ChrX:41203338..41203340 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.912C>T (p.Ala304=)	single nucleotide variant	Inborn genetic diseases [RCV002370024]\|not provided [RCV000762625]	ChrX:41344286 [GRCh38] ChrX:41203539 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1593T>C (p.Arg531=)	single nucleotide variant	not provided [RCV001570265]	ChrX:41346600 [GRCh38] ChrX:41205853 [GRCh37] ChrX:Xp11.4	benign\|likely benign
NM_001356.5(DDX3X):c.104-4_104-3dup	duplication	not provided [RCV001546968]	ChrX:41339026..41339027 [GRCh38] ChrX:41198279..41198280 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.46-244C>T	single nucleotide variant	not provided [RCV001612574]	ChrX:41337164 [GRCh38] ChrX:41196417 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.104-3dup	duplication	not provided [RCV000959722]	ChrX:41339026..41339027 [GRCh38] ChrX:41198279..41198280 [GRCh37] ChrX:Xp11.4	benign\|likely benign
NM_001356.5(DDX3X):c.104-10A>T	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002495353]\|not provided [RCV000882844]	ChrX:41339026 [GRCh38] ChrX:41198279 [GRCh37] ChrX:Xp11.4	benign\|likely benign
NM_001356.5(DDX3X):c.1938T>C (p.Asp646=)	single nucleotide variant	Inborn genetic diseases [RCV002409131]\|not provided [RCV000882845]	ChrX:41347668 [GRCh38] ChrX:41206921 [GRCh37] ChrX:Xp11.4	benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	copy number loss	not provided [RCV001007224]	ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001356.5(DDX3X):c.1148C>G (p.Ala383Gly)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000995528]	ChrX:41345302 [GRCh38] ChrX:41204555 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1316-2A>G	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000995529]	ChrX:41346227 [GRCh38] ChrX:41205480 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1600C>G (p.Arg534Gly)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000856741]	ChrX:41346607 [GRCh38] ChrX:41205860 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1746del (p.Ser583fs)	deletion	Global developmental delay [RCV001089641]	ChrX:41346989 [GRCh38] ChrX:41206242 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1439G>C (p.Arg480Thr)	single nucleotide variant	Cerebellar vermis hypoplasia [RCV000779659]\|Congenital cerebellar hypoplasia [RCV001257983]\|not provided [RCV002536859]	ChrX:41346352 [GRCh38] ChrX:41205605 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.833dup (p.Leu278fs)	duplication	Intellectual disability, X-linked 102 [RCV000824881]	ChrX:41344095..41344096 [GRCh38] ChrX:41203348..41203349 [GRCh37] ChrX:Xp11.4	likely pathogenic
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_001356.5(DDX3X):c.849C>T (p.Tyr283=)	single nucleotide variant	not provided [RCV000899881]	ChrX:41344113 [GRCh38] ChrX:41203366 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1947A>C (p.Gly649=)	single nucleotide variant	not provided [RCV000919173]	ChrX:41347677 [GRCh38] ChrX:41206930 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.599A>G (p.Tyr200Cys)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002280362]	ChrX:41343271 [GRCh38] ChrX:41202524 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002280364]	ChrX:41344268 [GRCh38] ChrX:41203521 [GRCh37] ChrX:Xp11.4	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs)	microsatellite	Intellectual disability, X-linked 102 [RCV000824883]\|not provided [RCV001836903]	ChrX:41344089..41344090 [GRCh38] ChrX:41203342..41203343 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787440]	ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	copy number loss	See cases [RCV000790583]	ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
NM_001356.5(DDX3X):c.1563dup (p.Ile522fs)	duplication	Intellectual disability, X-linked 102 [RCV000824983]	ChrX:41346569..41346570 [GRCh38] ChrX:41205822..41205823 [GRCh37] ChrX:Xp11.4	likely pathogenic
46,Y,inv(X)(p21.1q13.3)	inversion	Elevated circulating creatine kinase concentration [RCV000856573]	ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3	likely pathogenic
NM_001356.5(DDX3X):c.269dup (p.Ser90fs)	duplication	Intellectual disability, X-linked 102 [RCV000990795]	ChrX:41341600..41341601 [GRCh38] ChrX:41200853..41200854 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.58G>T (p.Asp20Tyr)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000785091]	ChrX:41337420 [GRCh38] ChrX:41196673 [GRCh37] ChrX:Xp11.4	uncertain significance
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1	copy number loss	not provided [RCV001007291]	ChrX:32849282..43713387 [GRCh37] ChrX:Xp21.1-11.3	pathogenic
NM_001356.5(DDX3X):c.79C>T (p.Gln27Ter)	single nucleotide variant	not provided [RCV000999402]	ChrX:41337441 [GRCh38] ChrX:41196694 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.397dup (p.Glu133fs)	duplication	not provided [RCV000800968]	ChrX:41342606..41342607 [GRCh38] ChrX:41201859..41201860 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.147del (p.Gly51fs)	deletion	Marfanoid habitus and intellectual disability [RCV000850466]	ChrX:41339079 [GRCh38] ChrX:41198332 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1180_1185dup (p.Arg394_Asp395dup)	duplication	Intellectual disability, X-linked 102 [RCV000850545]	ChrX:41345411..41345412 [GRCh38] ChrX:41204664..41204665 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.887G>C (p.Arg296Pro)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000824882]	ChrX:41344261 [GRCh38] ChrX:41203514 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1171-1G>C	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000790479]	ChrX:41345403 [GRCh38] ChrX:41204656 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1489G>C (p.Ala497Pro)	single nucleotide variant	not provided [RCV000819612]	ChrX:41346402 [GRCh38] ChrX:41205655 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.82_83del (p.Ser28fs)	microsatellite	not provided [RCV001009107]	ChrX:41337442..41337443 [GRCh38] ChrX:41196695..41196696 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.99_102dup (p.Lys35fs)	microsatellite	Intellectual disability, X-linked 102 [RCV000990792]	ChrX:41337456..41337457 [GRCh38] ChrX:41196709..41196710 [GRCh37] ChrX:Xp11.4	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001356.5(DDX3X):c.118C>T (p.Pro40Ser)	single nucleotide variant	not provided [RCV000999403]	ChrX:41339050 [GRCh38] ChrX:41198303 [GRCh37] ChrX:Xp11.4	likely pathogenic\|uncertain significance
NM_001356.5(DDX3X):c.67_71dup (p.Asp25fs)	duplication	not provided [RCV001171565]	ChrX:41337427..41337428 [GRCh38] ChrX:41196680..41196681 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.623_626del (p.Lys208fs)	deletion	not provided [RCV001171597]	ChrX:41343294..41343297 [GRCh38] ChrX:41202547..41202550 [GRCh37] ChrX:Xp11.4	pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	copy number loss	not provided [RCV000845670]	ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32	pathogenic
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV000990794]	ChrX:41341505 [GRCh38] ChrX:41200758 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1503_1504insTGCT (p.Ala502fs)	insertion	not provided [RCV001008488]	ChrX:41346510..41346511 [GRCh38] ChrX:41205763..41205764 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.95del (p.Thr32fs)	deletion	not provided [RCV001093492]	ChrX:41337457 [GRCh38] ChrX:41196710 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.641_643del (p.Ile214del)	deletion	Intellectual disability, X-linked 102 [RCV001093537]	ChrX:41343312..41343314 [GRCh38] ChrX:41202565..41202567 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.381G>A (p.Trp127Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV003127272]	ChrX:41342591 [GRCh38] ChrX:41201844 [GRCh37] ChrX:Xp11.4	pathogenic
NC_000023.10:g.(?_39911362)_(41782241_?)dup	duplication	not provided [RCV003105644]	ChrX:39911362..41782241 [GRCh37] ChrX:Xp11.4	uncertain significance
NC_000023.10:g.(?_39911362)_(41782241_?)del	deletion	Syndromic X-linked intellectual disability Hedera type [RCV003122552]\|not provided [RCV003105645]	ChrX:39911362..41782241 [GRCh37] ChrX:Xp11.4	pathogenic\|uncertain significance
NC_000023.10:g.(?_41193506)_(41196738_?)dup	duplication	not provided [RCV003105646]	ChrX:41193506..41196738 [GRCh37] ChrX:Xp11.4	uncertain significance
NC_000023.10:g.(?_41193506)_(41198356_?)dup	duplication	not provided [RCV003105647]	ChrX:41193506..41198356 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.426A>C (p.Pro142=)	single nucleotide variant	Inborn genetic diseases [RCV002329663]\|not provided [RCV001544729]	ChrX:41342636 [GRCh38] ChrX:41201889 [GRCh37] ChrX:Xp11.4	likely benign\|conflicting interpretations of pathogenicity
NM_001356.5(DDX3X):c.875G>T (p.Arg292Leu)	single nucleotide variant	not provided [RCV001572242]	ChrX:41344249 [GRCh38] ChrX:41203502 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.731C>G (p.Ser244Ter)	single nucleotide variant	not provided [RCV001580023]	ChrX:41343788 [GRCh38] ChrX:41203041 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1315+5C>T	single nucleotide variant	not provided [RCV001577330]	ChrX:41345553 [GRCh38] ChrX:41204806 [GRCh37] ChrX:Xp11.4	likely benign\|conflicting interpretations of pathogenicity
NM_001356.5(DDX3X):c.1261T>G (p.Trp421Gly)	single nucleotide variant	not provided [RCV001548692]	ChrX:41345494 [GRCh38] ChrX:41204747 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.194A>G (p.Asp65Gly)	single nucleotide variant	Inborn genetic diseases [RCV002592509]\|not provided [RCV001596088]	ChrX:41341526 [GRCh38] ChrX:41200779 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1527T>C (p.Asn509=)	single nucleotide variant	not provided [RCV001549637]	ChrX:41346534 [GRCh38] ChrX:41205787 [GRCh37] ChrX:Xp11.4	benign\|likely benign
NM_001356.5(DDX3X):c.104-40dup	duplication	not provided [RCV001698795]	ChrX:41338990..41338991 [GRCh38] ChrX:41198243..41198244 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1025+226G>A	single nucleotide variant	not provided [RCV001688845]	ChrX:41344625 [GRCh38] ChrX:41203878 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1156C>T (p.Pro386Ser)	single nucleotide variant	not provided [RCV001579725]	ChrX:41345310 [GRCh38] ChrX:41204563 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.251T>G (p.Phe84Cys)	single nucleotide variant	not provided [RCV001577150]	ChrX:41341583 [GRCh38] ChrX:41200836 [GRCh37] ChrX:Xp11.4	likely benign\|conflicting interpretations of pathogenicity
NM_001356.5(DDX3X):c.1497+46T>C	single nucleotide variant	not provided [RCV001586436]	ChrX:41346456 [GRCh38] ChrX:41205709 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.544-71T>G	single nucleotide variant	not provided [RCV001564397]	ChrX:41343145 [GRCh38] ChrX:41202398 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.45+316T>G	single nucleotide variant	not provided [RCV001552056]	ChrX:41334613 [GRCh38] ChrX:41193866 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.285-14_285-11del	deletion	not provided [RCV001547254]	ChrX:41342478..41342481 [GRCh38] ChrX:41201731..41201734 [GRCh37] ChrX:Xp11.4	benign\|likely benign
NM_001356.5(DDX3X):c.152-54A>G	single nucleotide variant	not provided [RCV001590073]	ChrX:41341430 [GRCh38] ChrX:41200683 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.679+125G>T	single nucleotide variant	not provided [RCV001617622]	ChrX:41343476 [GRCh38] ChrX:41202729 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.966C>T (p.Ala322=)	single nucleotide variant	not provided [RCV000914891]	ChrX:41344340 [GRCh38] ChrX:41203593 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1855AGC[2] (p.Ser621del)	microsatellite	not provided [RCV001760502]	ChrX:41347397..41347399 [GRCh38] ChrX:41206650..41206652 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1434G>A (p.Arg478=)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002502739]\|not provided [RCV000911682]	ChrX:41346347 [GRCh38] ChrX:41205600 [GRCh37] ChrX:Xp11.4	benign\|likely benign
NM_001356.5(DDX3X):c.1424G>A (p.Arg475His)	single nucleotide variant	not provided [RCV000999404]	ChrX:41346337 [GRCh38] ChrX:41205590 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.766-84A>G	single nucleotide variant	not provided [RCV001561996]	ChrX:41343946 [GRCh38] ChrX:41203199 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.284+72T>G	single nucleotide variant	not provided [RCV001551143]	ChrX:41341688 [GRCh38] ChrX:41200941 [GRCh37] ChrX:Xp11.4	likely benign
NR_126093.1(DDX3X):n.129C>T	single nucleotide variant	not provided [RCV001557040]	ChrX:41333436 [GRCh38] ChrX:41192689 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1219A>G (p.Arg407Gly)	single nucleotide variant	not provided [RCV001562361]	ChrX:41345452 [GRCh38] ChrX:41204705 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1497+29A>G	single nucleotide variant	not provided [RCV001548712]	ChrX:41346439 [GRCh38] ChrX:41205692 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.151+120T>C	single nucleotide variant	not provided [RCV001637739]	ChrX:41339203 [GRCh38] ChrX:41198456 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.453_454del (p.Ser152fs)	deletion	Intellectual disability, X-linked 102 [RCV001814584]\|not provided [RCV001560114]	ChrX:41342744..41342745 [GRCh38] ChrX:41201997..41201998 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.680-23TTTG[2]	microsatellite	not provided [RCV001689135]	ChrX:41343714..41343717 [GRCh38] ChrX:41202967..41202970 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1439_1440insTCTC (p.Arg480fs)	insertion	Intellectual disability, X-linked 102 [RCV002465420]	ChrX:41346352..41346353 [GRCh38] ChrX:41205605..41205606 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.168_169del (p.Asp56fs)	deletion	not provided [RCV001008615]	ChrX:41341499..41341500 [GRCh38] ChrX:41200752..41200753 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.285-12T>A	single nucleotide variant	Autism [RCV001263371]	ChrX:41342483 [GRCh38] ChrX:41201736 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.373dup (p.Ser125fs)	duplication	not provided [RCV001009206]	ChrX:41342582..41342583 [GRCh38] ChrX:41201835..41201836 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.751_752dup (p.Leu251fs)	duplication	not provided [RCV001009290]	ChrX:41343806..41343807 [GRCh38] ChrX:41203059..41203060 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1390G>T (p.Glu464Ter)	single nucleotide variant	not provided [RCV001007997]	ChrX:41346303 [GRCh38] ChrX:41205556 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.543+70G>A	single nucleotide variant	not provided [RCV001687430]	ChrX:41342906 [GRCh38] ChrX:41202159 [GRCh37] ChrX:Xp11.4	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_001356.5(DDX3X):c.605G>T (p.Arg202Leu)	single nucleotide variant	not provided [RCV001565118]	ChrX:41343277 [GRCh38] ChrX:41202530 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.159C>T (p.Tyr53=)	single nucleotide variant	not provided [RCV001596158]	ChrX:41341491 [GRCh38] ChrX:41200744 [GRCh37] ChrX:Xp11.4	benign\|likely benign
NR_126093.1(DDX3X):n.409A>C	single nucleotide variant	not provided [RCV001594299]	ChrX:41333716 [GRCh38] ChrX:41192969 [GRCh37] ChrX:Xp11.4	likely benign
NR_126093.1(DDX3X):n.404G>C	single nucleotide variant	not provided [RCV001593664]	ChrX:41333711 [GRCh38] ChrX:41192964 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1025+266T>C	single nucleotide variant	not provided [RCV001637776]	ChrX:41344665 [GRCh38] ChrX:41203918 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1025+24T>G	single nucleotide variant	not provided [RCV001676972]	ChrX:41344423 [GRCh38] ChrX:41203676 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1252_1255del (p.Gln417_Lys418insTer)	deletion	not provided [RCV001658962]	ChrX:41345483..41345486 [GRCh38] ChrX:41204736..41204739 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.581A>G (p.Asn194Ser)	single nucleotide variant	not provided [RCV001093494]	ChrX:41343253 [GRCh38] ChrX:41202506 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1720A>G (p.Met574Val)	single nucleotide variant	not provided [RCV001093497]	ChrX:41346963 [GRCh38] ChrX:41206216 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.651_652del (p.Asp219fs)	deletion	Intellectual disability, X-linked 102 [RCV001252462]	ChrX:41343321..41343322 [GRCh38] ChrX:41202574..41202575 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.674A>G (p.Gln225Arg)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001252463]	ChrX:41343346 [GRCh38] ChrX:41202599 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001093534]	ChrX:41345281 [GRCh38] ChrX:41204534 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1511G>A (p.Gly504Glu)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001093535]	ChrX:41346518 [GRCh38] ChrX:41205771 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1436_1439delinsTCTC (p.Asp479_Arg480delinsValSer)	indel	Intellectual disability, X-linked 102 [RCV001093536]	ChrX:41346349..41346352 [GRCh38] ChrX:41205602..41205605 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1443dup (p.Glu482fs)	duplication	Intellectual disability, X-linked 102 [RCV001706915]	ChrX:41346354..41346355 [GRCh38] ChrX:41205607..41205608 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.151+103T>G	single nucleotide variant	not provided [RCV001583024]	ChrX:41339186 [GRCh38] ChrX:41198439 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.165dup (p.Asp56fs)	duplication	not provided [RCV001541937]	ChrX:41341494..41341495 [GRCh38] ChrX:41200747..41200748 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1171-2A>C	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001650490]	ChrX:41345402 [GRCh38] ChrX:41204655 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.284+289C>G	single nucleotide variant	not provided [RCV001708668]	ChrX:41341905 [GRCh38] ChrX:41201158 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.119CTC[1] (p.Pro41del)	microsatellite	not provided [RCV001586747]	ChrX:41339049..41339051 [GRCh38] ChrX:41198302..41198304 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.103+193del	deletion	not provided [RCV001671688]	ChrX:41337643 [GRCh38] ChrX:41196896 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.543+184A>G	single nucleotide variant	not provided [RCV001692801]	ChrX:41343020 [GRCh38] ChrX:41202273 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.680-174_680-173del	deletion	not provided [RCV001585109]	ChrX:41343562..41343563 [GRCh38] ChrX:41202815..41202816 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.916A>G (p.Ile306Val)	single nucleotide variant	not provided [RCV001531772]	ChrX:41344290 [GRCh38] ChrX:41203543 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1026-3C>T	single nucleotide variant	not provided [RCV001531773]	ChrX:41345177 [GRCh38] ChrX:41204430 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1980G>A (p.Trp660Ter)	single nucleotide variant	not provided [RCV001531774]	ChrX:41347710 [GRCh38] ChrX:41206963 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.857C>A (p.Ala286Asp)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001199268]	ChrX:41344121 [GRCh38] ChrX:41203374 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.643A>T (p.Lys215Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001197879]	ChrX:41343315 [GRCh38] ChrX:41202568 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.197dup (p.Asp67fs)	duplication	not provided [RCV001200319]	ChrX:41341527..41341528 [GRCh38] ChrX:41200780..41200781 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1071_1170+24del	deletion	Inborn genetic diseases [RCV001267579]\|not provided [RCV001042118]	ChrX:41345223..41345346 [GRCh38] ChrX:41204476..41204599 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.1326A>G (p.Ser442=)	single nucleotide variant	not provided [RCV001200320]	ChrX:41346239 [GRCh38] ChrX:41205492 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.389_393del (p.Lys130fs)	deletion	not provided [RCV001093493]	ChrX:41342597..41342601 [GRCh38] ChrX:41201850..41201854 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.589del (p.Thr198fs)	deletion	Mental retardation, X-linked 102 [RCV001093538]	ChrX:41343261 [GRCh38] ChrX:41202514 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)	duplication	Intellectual disability, X-linked 102 [RCV001843574]\|Rare genetic intellectual disability [RCV001256998]\|not provided [RCV001387597]	ChrX:41342743..41342744 [GRCh38] ChrX:41201996..41201997 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001255809]	ChrX:41343268 [GRCh38] ChrX:41202521 [GRCh37] ChrX:Xp11.4	likely benign\|uncertain significance
NM_001356.5(DDX3X):c.122C>A (p.Pro41His)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001253093]	ChrX:41339054 [GRCh38] ChrX:41198307 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.780T>G (p.Tyr260Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001254065]	ChrX:41344044 [GRCh38] ChrX:41203297 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1454A>C (p.His485Pro)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001253728]\|not provided [RCV002298917]	ChrX:41346367 [GRCh38] ChrX:41205620 [GRCh37] ChrX:Xp11.4	likely pathogenic\|uncertain significance
NM_001356.5(DDX3X):c.692C>G (p.Thr231Ser)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001253654]	ChrX:41343749 [GRCh38] ChrX:41203002 [GRCh37] ChrX:Xp11.4	uncertain significance
GRCh37/hg19 Xp11.4-11.3(chrX:41150139-43976458)	copy number loss	Microcephaly [RCV001252950]	ChrX:41150139..43976458 [GRCh37] ChrX:Xp11.4-11.3	pathogenic
NM_001356.5(DDX3X):c.1448C>A (p.Ala483Asp)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001252461]	ChrX:41346361 [GRCh38] ChrX:41205614 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter)	single nucleotide variant	Intellectual disability [RCV001260602]\|Intellectual disability, X-linked 102 [RCV001332990]\|not provided [RCV001310708]	ChrX:41344305 [GRCh38] ChrX:41203558 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1415A>C (p.His472Pro)	single nucleotide variant	Inborn genetic diseases [RCV001265801]\|not provided [RCV001751532]	ChrX:41346328 [GRCh38] ChrX:41205581 [GRCh37] ChrX:Xp11.4	likely pathogenic\|uncertain significance
NM_001356.5(DDX3X):c.527C>G (p.Pro176Arg)	single nucleotide variant	Inborn genetic diseases [RCV001266038]	ChrX:41342820 [GRCh38] ChrX:41202073 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1298_1299dup (p.Leu434fs)	duplication	Inborn genetic diseases [RCV001266926]	ChrX:41345530..41345531 [GRCh38] ChrX:41204783..41204784 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1424G>T (p.Arg475Leu)	single nucleotide variant	Rare genetic intellectual disability [RCV001257004]	ChrX:41346337 [GRCh38] ChrX:41205590 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1343T>A (p.Val448Glu)	single nucleotide variant	Intellectual disability [RCV001260596]	ChrX:41346256 [GRCh38] ChrX:41205509 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1543A>G (p.Asn515Asp)	single nucleotide variant	Intellectual disability [RCV001260759]	ChrX:41346550 [GRCh38] ChrX:41205803 [GRCh37] ChrX:Xp11.4	likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	copy number loss	See cases [RCV001263061]	ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001356.5(DDX3X):c.865-2A>G	single nucleotide variant	Global developmental delay [RCV001255408]\|Intellectual disability, X-linked 102 [RCV001775160]	ChrX:41344237 [GRCh38] ChrX:41203490 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.765+1G>A	single nucleotide variant	Intellectual disability [RCV001260754]	ChrX:41343823 [GRCh38] ChrX:41203076 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1429C>T (p.Gln477Ter)	single nucleotide variant	Inborn genetic diseases [RCV001267145]	ChrX:41346342 [GRCh38] ChrX:41205595 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1537G>A (p.Val513Ile)	single nucleotide variant	Intellectual disability [RCV001260601]\|See cases [RCV002287487]	ChrX:41346544 [GRCh38] ChrX:41205797 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.103+2T>C	single nucleotide variant	Intellectual disability [RCV001260755]	ChrX:41337467 [GRCh38] ChrX:41196720 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1537_1541del (p.Val513fs)	deletion	Intellectual disability [RCV001260758]\|not provided [RCV002537610]	ChrX:41346542..41346546 [GRCh38] ChrX:41205795..41205799 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.968_972dup (p.Gly325fs)	duplication	Intellectual disability [RCV001260597]	ChrX:41344338..41344339 [GRCh38] ChrX:41203591..41203592 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1195_1199dup (p.Tyr400Ter)	duplication	Intellectual disability [RCV001260603]	ChrX:41345427..41345428 [GRCh38] ChrX:41204680..41204681 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1601_1611del (p.Arg534fs)	deletion	Neurodevelopmental abnormality [RCV001264625]	ChrX:41346606..41346616 [GRCh38] ChrX:41205859..41205869 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.442C>T (p.Gln148Ter)	single nucleotide variant	not provided [RCV001268469]	ChrX:41342652 [GRCh38] ChrX:41201905 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.77del (p.Asn26fs)	deletion	not provided [RCV001268169]	ChrX:41337438 [GRCh38] ChrX:41196691 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1315+1G>C	single nucleotide variant	not provided [RCV001268641]	ChrX:41345549 [GRCh38] ChrX:41204802 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.828_831del (p.Arg276fs)	microsatellite	Intellectual disability, X-linked 102 [RCV001093538]	ChrX:41344089..41344092 [GRCh38] ChrX:41203342..41203345 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.600T>A (p.Tyr200Ter)	single nucleotide variant	not provided [RCV001269948]	ChrX:41343272 [GRCh38] ChrX:41202525 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.380G>A (p.Trp127Ter)	single nucleotide variant	Inborn genetic diseases [RCV001267612]	ChrX:41342590 [GRCh38] ChrX:41201843 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1859dup (p.Ser620fs)	duplication	Inborn genetic diseases [RCV001266343]	ChrX:41347400..41347401 [GRCh38] ChrX:41206653..41206654 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1770-2A>G	single nucleotide variant	Inborn genetic diseases [RCV001266369]	ChrX:41347310 [GRCh38] ChrX:41206563 [GRCh37] ChrX:Xp11.4	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_001356.5(DDX3X):c.1839del (p.Phe613fs)	deletion	Inborn genetic diseases [RCV001267361]	ChrX:41347381 [GRCh38] ChrX:41206634 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1190_1196del (p.Leu397fs)	deletion	Inborn genetic diseases [RCV001267423]	ChrX:41345423..41345429 [GRCh38] ChrX:41204676..41204682 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1398_1401del (p.Ala467fs)	deletion	Intellectual disability [RCV001260600]	ChrX:41346310..41346313 [GRCh38] ChrX:41205563..41205566 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.543+3_543+6del	deletion	Intellectual disability [RCV001260757]	ChrX:41342837..41342840 [GRCh38] ChrX:41202090..41202093 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1315+4A>G	single nucleotide variant	not provided [RCV001305383]	ChrX:41345552 [GRCh38] ChrX:41204805 [GRCh37] ChrX:Xp11.4	uncertain significance
GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000)	copy number loss	Cardiomyopathy [RCV001352652]	ChrX:39645568..44199000 [GRCh37] ChrX:Xp11.4-11.3	pathogenic
NM_001356.5(DDX3X):c.1728T>G (p.Tyr576Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001281103]\|not provided [RCV002265021]	ChrX:41346971 [GRCh38] ChrX:41206224 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.824C>T (p.Thr275Met)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001336294]	ChrX:41344088 [GRCh38] ChrX:41203341 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.544-8_544-6del	deletion	Intellectual disability, X-linked 102 [RCV001310275]	ChrX:41343206..41343208 [GRCh38] ChrX:41202459..41202461 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1497+5G>A	single nucleotide variant	Inborn genetic diseases [RCV002395660]\|not provided [RCV001310710]	ChrX:41346415 [GRCh38] ChrX:41205668 [GRCh37] ChrX:Xp11.4	benign\|likely benign
NM_001356.5(DDX3X):c.1304T>C (p.Leu435Pro)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001269284]	ChrX:41345537 [GRCh38] ChrX:41204790 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1282C>T (p.Arg428Trp)	single nucleotide variant	Neurodevelopmental disorder [RCV001374906]	ChrX:41345515 [GRCh38] ChrX:41204768 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.614C>T (p.Pro205Leu)	single nucleotide variant	Neurodevelopmental disorder [RCV001374965]	ChrX:41343286 [GRCh38] ChrX:41202539 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.745G>A (p.Glu249Lys)	single nucleotide variant	not provided [RCV001354168]	ChrX:41343802 [GRCh38] ChrX:41203055 [GRCh37] ChrX:Xp11.4	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	copy number loss	not provided [RCV001281358]	ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001356.5(DDX3X):c.1026-89T>A	single nucleotide variant	not provided [RCV001527816]	ChrX:41345091 [GRCh38] ChrX:41204344 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1640A>T (p.Glu547Val)	single nucleotide variant	Neurodevelopmental disorder [RCV001374955]	ChrX:41346883 [GRCh38] ChrX:41206136 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001270420]	ChrX:41346581 [GRCh38] ChrX:41205834 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1658_1662del (p.Thr553fs)	deletion	not provided [RCV001269944]	ChrX:41346901..41346905 [GRCh38] ChrX:41206154..41206158 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.544T>G (p.Phe182Val)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001336293]	ChrX:41343216 [GRCh38] ChrX:41202469 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1815_1817del (p.Ser606del)	deletion	not provided [RCV001340987]	ChrX:41347355..41347357 [GRCh38] ChrX:41206608..41206610 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001310221]	ChrX:41346544 [GRCh38] ChrX:41205797 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1249C>G (p.Gln417Glu)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001780923]	ChrX:41345482 [GRCh38] ChrX:41204735 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1421A>T (p.Asp474Val)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001376006]	ChrX:41346334 [GRCh38] ChrX:41205587 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.525T>A (p.Cys175Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002251013]	ChrX:41342818 [GRCh38] ChrX:41202071 [GRCh37] ChrX:Xp11.4	likely pathogenic
NR_126093.1(DDX3X):n.415del	deletion	not provided [RCV001581756]	ChrX:41333722 [GRCh38] ChrX:41192975 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.45+195C>T	single nucleotide variant	not provided [RCV001686788]	ChrX:41334492 [GRCh38] ChrX:41193745 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.181A>G (p.Ser61Gly)	single nucleotide variant	Inborn genetic diseases [RCV002539726]\|not provided [RCV001709455]	ChrX:41341513 [GRCh38] ChrX:41200766 [GRCh37] ChrX:Xp11.4	benign\|likely benign
NM_001356.5(DDX3X):c.765+44G>A	single nucleotide variant	not provided [RCV001615438]	ChrX:41343866 [GRCh38] ChrX:41203119 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.152-311C>T	single nucleotide variant	not provided [RCV001713841]	ChrX:41341173 [GRCh38] ChrX:41200426 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1025+24_1025+28del	deletion	not provided [RCV001585582]	ChrX:41344421..41344425 [GRCh38] ChrX:41203674..41203678 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.103+192_103+193del	deletion	not provided [RCV001617053]	ChrX:41337643..41337644 [GRCh38] ChrX:41196896..41196897 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1421A>G (p.Asp474Gly)	single nucleotide variant	not provided [RCV001378207]	ChrX:41346334 [GRCh38] ChrX:41205587 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1057T>G (p.Leu353Val)	single nucleotide variant	not provided [RCV001379073]	ChrX:41345211 [GRCh38] ChrX:41204464 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.455C>T (p.Ser152Phe)	single nucleotide variant	not provided [RCV001761314]	ChrX:41342748 [GRCh38] ChrX:41202001 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1251_1252del (p.Lys418fs)	deletion	Intellectual disability, X-linked 102 [RCV001780612]	ChrX:41345483..41345484 [GRCh38] ChrX:41204736..41204737 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1274C>G (p.Ser425Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001780613]	ChrX:41345507 [GRCh38] ChrX:41204760 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.930dup (p.Arg311fs)	duplication	Intellectual disability, X-linked 102 [RCV001780614]	ChrX:41344302..41344303 [GRCh38] ChrX:41203555..41203556 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1616-7_1616-6del	microsatellite	not provided [RCV001774155]	ChrX:41346850..41346851 [GRCh38] ChrX:41206103..41206104 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.234_235del (p.Gly80fs)	deletion	See cases [RCV002253054]	ChrX:41341566..41341567 [GRCh38] ChrX:41200819..41200820 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001733875]	ChrX:41337433 [GRCh38] ChrX:41196686 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1616-13G>A	single nucleotide variant	not provided [RCV001772412]	ChrX:41346846 [GRCh38] ChrX:41206099 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1025+1G>A	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001775400]	ChrX:41344400 [GRCh38] ChrX:41203653 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1693C>T (p.Gln565Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001785360]\|not provided [RCV002544290]	ChrX:41346936 [GRCh38] ChrX:41206189 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.207T>G (p.Tyr69Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001785393]	ChrX:41341539 [GRCh38] ChrX:41200792 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
NM_001356.5(DDX3X):c.1856G>A (p.Ser619Asn)	single nucleotide variant	not provided [RCV001754700]	ChrX:41347398 [GRCh38] ChrX:41206651 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1628C>T (p.Ser543Leu)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001788521]	ChrX:41346871 [GRCh38] ChrX:41206124 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.80A>C (p.Gln27Pro)	single nucleotide variant	not provided [RCV001773823]	ChrX:41337442 [GRCh38] ChrX:41196695 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.348T>A (p.Phe116Leu)	single nucleotide variant	not provided [RCV001733017]	ChrX:41342558 [GRCh38] ChrX:41201811 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.402T>A (p.Asp134Glu)	single nucleotide variant	not provided [RCV001765685]	ChrX:41342612 [GRCh38] ChrX:41201865 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.23A>G (p.Asn8Ser)	single nucleotide variant	not provided [RCV001768982]	ChrX:41334275 [GRCh38] ChrX:41193528 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1463G>C (p.Arg488Pro)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001801272]	ChrX:41346376 [GRCh38] ChrX:41205629 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1885G>A (p.Gly629Ser)	single nucleotide variant	not provided [RCV001768565]	ChrX:41347427 [GRCh38] ChrX:41206680 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.79_80insT (p.Gln27fs)	insertion	not provided [RCV001804180]	ChrX:41337441..41337442 [GRCh38] ChrX:41196694..41196695 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1906G>A (p.Gly636Arg)	single nucleotide variant	not provided [RCV001765852]	ChrX:41347448 [GRCh38] ChrX:41206701 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.152-1G>A	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001771822]\|not provided [RCV002541039]	ChrX:41341483 [GRCh38] ChrX:41200736 [GRCh37] ChrX:Xp11.4	pathogenic\|likely pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	copy number loss	Turner syndrome [RCV002280669]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	copy number loss	Turner syndrome [RCV002280671]	ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001356.5(DDX3X):c.802A>G (p.Ile268Val)	single nucleotide variant	not provided [RCV001800132]	ChrX:41344066 [GRCh38] ChrX:41203319 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1492A>G (p.Thr498Ala)	single nucleotide variant	DDX3X-related X-linked intellectual disability [RCV001795559]	ChrX:41346405 [GRCh38] ChrX:41205658 [GRCh37] ChrX:Xp11.4	likely pathogenic
Single allele	complex	Turner syndrome [RCV002280670]	ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001356.5(DDX3X):c.1249C>A (p.Gln417Lys)	single nucleotide variant	not provided [RCV001815983]	ChrX:41345482 [GRCh38] ChrX:41204735 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1733dup (p.His578fs)	duplication	not provided [RCV001806938]	ChrX:41346975..41346976 [GRCh38] ChrX:41206228..41206229 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.841C>T (p.Gln281Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002468651]\|not provided [RCV002007574]	ChrX:41344105 [GRCh38] ChrX:41203358 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.898G>T (p.Val300Phe)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001837606]	ChrX:41344272 [GRCh38] ChrX:41203525 [GRCh37] ChrX:Xp11.4	not provided
NM_001356.5(DDX3X):c.464A>G (p.Asn155Ser)	single nucleotide variant	not provided [RCV001874585]	ChrX:41342757 [GRCh38] ChrX:41202010 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.443+3A>T	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001837609]	ChrX:41342656 [GRCh38] ChrX:41201909 [GRCh37] ChrX:Xp11.4	not provided
NM_001356.5(DDX3X):c.103+6T>G	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001842252]	ChrX:41337471 [GRCh38] ChrX:41196724 [GRCh37] ChrX:Xp11.4	likely pathogenic\|uncertain significance
NM_001356.5(DDX3X):c.572T>C (p.Ile191Thr)	single nucleotide variant	not provided [RCV002024361]	ChrX:41343244 [GRCh38] ChrX:41202497 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1541T>G (p.Ile514Ser)	single nucleotide variant	not provided [RCV001872636]	ChrX:41346548 [GRCh38] ChrX:41205801 [GRCh37] ChrX:Xp11.4	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	not provided [RCV001829212]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.4(chrX:40430199-41309242)	copy number loss	not specified [RCV002052811]	ChrX:40430199..41309242 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1415A>G (p.His472Arg)	single nucleotide variant	Inborn genetic diseases [RCV002388688]\|Intellectual disability, X-linked 102 [RCV001837044]	ChrX:41346328 [GRCh38] ChrX:41205581 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.38A>G (p.Asp13Gly)	single nucleotide variant	not provided [RCV001912281]	ChrX:41334290 [GRCh38] ChrX:41193543 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.788G>A (p.Arg263His)	single nucleotide variant	not provided [RCV002052307]	ChrX:41344052 [GRCh38] ChrX:41203305 [GRCh37] ChrX:Xp11.4	likely pathogenic\|conflicting interpretations of pathogenicity
NM_001356.5(DDX3X):c.1019T>A (p.Phe340Tyr)	single nucleotide variant	not provided [RCV001927886]	ChrX:41344393 [GRCh38] ChrX:41203646 [GRCh37] ChrX:Xp11.4	uncertain significance
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_001356.5(DDX3X):c.1399G>T (p.Ala467Ser)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001837607]	ChrX:41346312 [GRCh38] ChrX:41205565 [GRCh37] ChrX:Xp11.4	not provided
NM_001356.5(DDX3X):c.1702C>T (p.Pro568Ser)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV001837608]	ChrX:41346945 [GRCh38] ChrX:41206198 [GRCh37] ChrX:Xp11.4	not provided
NM_001356.5(DDX3X):c.1399G>A (p.Ala467Thr)	single nucleotide variant	not provided [RCV002001291]	ChrX:41346312 [GRCh38] ChrX:41205565 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.645dup (p.Glu216fs)	duplication	not provided [RCV001942303]	ChrX:41343314..41343315 [GRCh38] ChrX:41202567..41202568 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.544-2A>G	single nucleotide variant	not provided [RCV002039074]	ChrX:41343214 [GRCh38] ChrX:41202467 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1819G>A (p.Gly607Ser)	single nucleotide variant	not provided [RCV001991546]	ChrX:41347361 [GRCh38] ChrX:41206614 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1910-20_1910-17del	deletion	not provided [RCV001888403]	ChrX:41347619..41347622 [GRCh38] ChrX:41206872..41206875 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1025+10_1025+23del	deletion	not provided [RCV001877353]	ChrX:41344407..41344420 [GRCh38] ChrX:41203660..41203673 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.652_654del (p.Arg218del)	deletion	not provided [RCV001882276]	ChrX:41343323..41343325 [GRCh38] ChrX:41202576..41202578 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.152-18del	deletion	not provided [RCV001988874]	ChrX:41341466 [GRCh38] ChrX:41200719 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.565G>T (p.Glu189Ter)	single nucleotide variant	not provided [RCV001876717]	ChrX:41343237 [GRCh38] ChrX:41202490 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1658_1661del (p.Thr553fs)	deletion	not provided [RCV001994839]	ChrX:41346900..41346903 [GRCh38] ChrX:41206153..41206156 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.472A>G (p.Ile158Val)	single nucleotide variant	Inborn genetic diseases [RCV002334735]\|not provided [RCV002047190]	ChrX:41342765 [GRCh38] ChrX:41202018 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.353A>G (p.Lys118Arg)	single nucleotide variant	not provided [RCV002012101]	ChrX:41342563 [GRCh38] ChrX:41201816 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1770-4dup	duplication	not provided [RCV002028646]	ChrX:41347307..41347308 [GRCh38] ChrX:41206560..41206561 [GRCh37] ChrX:Xp11.4	likely benign\|uncertain significance
NM_001356.5(DDX3X):c.1268A>G (p.Glu423Gly)	single nucleotide variant	not provided [RCV001981443]	ChrX:41345501 [GRCh38] ChrX:41204754 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.533A>G (p.His178Arg)	single nucleotide variant	not provided [RCV001992413]	ChrX:41342826 [GRCh38] ChrX:41202079 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.89G>T (p.Gly30Val)	single nucleotide variant	not provided [RCV002032309]	ChrX:41337451 [GRCh38] ChrX:41196704 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.444-18T>C	single nucleotide variant	not provided [RCV002186044]	ChrX:41342719 [GRCh38] ChrX:41201972 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.679+15_679+19del	deletion	not provided [RCV002084814]	ChrX:41343365..41343369 [GRCh38] ChrX:41202618..41202622 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.27G>A (p.Ala9=)	single nucleotide variant	not provided [RCV002111162]	ChrX:41334279 [GRCh38] ChrX:41193532 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.284+14T>C	single nucleotide variant	not provided [RCV002112391]	ChrX:41341630 [GRCh38] ChrX:41200883 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1095C>T (p.Val365=)	single nucleotide variant	not provided [RCV002124951]	ChrX:41345249 [GRCh38] ChrX:41204502 [GRCh37] ChrX:Xp11.4	benign\|likely benign
NM_001356.5(DDX3X):c.170G>A (p.Ser57Asn)	single nucleotide variant	Inborn genetic diseases [RCV003015239]\|not provided [RCV002091473]	ChrX:41341502 [GRCh38] ChrX:41200755 [GRCh37] ChrX:Xp11.4	benign\|likely benign
NM_001356.5(DDX3X):c.1171-8dup	duplication	Intellectual disability, X-linked 102 [RCV002494051]\|not provided [RCV002170326]	ChrX:41345388..41345389 [GRCh38] ChrX:41204641..41204642 [GRCh37] ChrX:Xp11.4	benign\|likely benign
NM_001356.5(DDX3X):c.489C>T (p.Tyr163=)	single nucleotide variant	Inborn genetic diseases [RCV002337367]\|not provided [RCV002146133]	ChrX:41342782 [GRCh38] ChrX:41202035 [GRCh37] ChrX:Xp11.4	benign\|likely benign
NM_001356.5(DDX3X):c.600T>C (p.Tyr200=)	single nucleotide variant	not provided [RCV002088390]	ChrX:41343272 [GRCh38] ChrX:41202525 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1851C>T (p.Arg617=)	single nucleotide variant	not provided [RCV002207493]	ChrX:41347393 [GRCh38] ChrX:41206646 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.99C>T (p.Ala33=)	single nucleotide variant	not provided [RCV002207412]	ChrX:41337461 [GRCh38] ChrX:41196714 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.162T>C (p.Asp54=)	single nucleotide variant	not provided [RCV002145823]	ChrX:41341494 [GRCh38] ChrX:41200747 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1909+11T>C	single nucleotide variant	not provided [RCV002126091]	ChrX:41347462 [GRCh38] ChrX:41206715 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1615G>C (p.Gly539Arg)	single nucleotide variant	not provided [RCV002223730]	ChrX:41346622 [GRCh38] ChrX:41205875 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.443+19T>C	single nucleotide variant	not provided [RCV002147496]	ChrX:41342672 [GRCh38] ChrX:41201925 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1170+8T>C	single nucleotide variant	not provided [RCV002206727]	ChrX:41345332 [GRCh38] ChrX:41204585 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.865-9dup	duplication	not provided [RCV002091031]	ChrX:41344222..41344223 [GRCh38] ChrX:41203475..41203476 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1596G>A (p.Thr532=)	single nucleotide variant	not provided [RCV002210149]	ChrX:41346603 [GRCh38] ChrX:41205856 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1215A>G (p.Val405=)	single nucleotide variant	not provided [RCV002208454]	ChrX:41345448 [GRCh38] ChrX:41204701 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.606C>T (p.Arg202=)	single nucleotide variant	not provided [RCV002150097]	ChrX:41343278 [GRCh38] ChrX:41202531 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.544-20C>A	single nucleotide variant	not provided [RCV002174453]	ChrX:41343196 [GRCh38] ChrX:41202449 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1884C>T (p.His628=)	single nucleotide variant	not provided [RCV002134830]	ChrX:41347426 [GRCh38] ChrX:41206679 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1026-7_1026-6del	deletion	not provided [RCV002078357]	ChrX:41345173..41345174 [GRCh38] ChrX:41204426..41204427 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.769A>C (p.Asn257His)	single nucleotide variant	not provided [RCV002214527]	ChrX:41344033 [GRCh38] ChrX:41203286 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.894C>T (p.Cys298=)	single nucleotide variant	not provided [RCV002172255]	ChrX:41344268 [GRCh38] ChrX:41203521 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1025+18T>C	single nucleotide variant	not provided [RCV002077730]	ChrX:41344417 [GRCh38] ChrX:41203670 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1316-6C>T	single nucleotide variant	not provided [RCV002195970]	ChrX:41346223 [GRCh38] ChrX:41205476 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1025+20del	deletion	not provided [RCV002090453]	ChrX:41344415 [GRCh38] ChrX:41203668 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.443+16G>T	single nucleotide variant	not provided [RCV002150775]	ChrX:41342669 [GRCh38] ChrX:41201922 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1191A>G (p.Leu397=)	single nucleotide variant	Inborn genetic diseases [RCV002337295]\|not provided [RCV002132279]	ChrX:41345424 [GRCh38] ChrX:41204677 [GRCh37] ChrX:Xp11.4	benign\|likely benign
NM_001356.5(DDX3X):c.1026-13del	deletion	not provided [RCV002093788]	ChrX:41345167 [GRCh38] ChrX:41204420 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1171-7C>T	single nucleotide variant	not provided [RCV002191195]	ChrX:41345397 [GRCh38] ChrX:41204650 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.544-8C>T	single nucleotide variant	not provided [RCV002173173]	ChrX:41343208 [GRCh38] ChrX:41202461 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.45+19A>G	single nucleotide variant	not provided [RCV002114192]	ChrX:41334316 [GRCh38] ChrX:41193569 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1171-4T>C	single nucleotide variant	not provided [RCV002076940]	ChrX:41345400 [GRCh38] ChrX:41204653 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.152-19T>C	single nucleotide variant	not provided [RCV002150262]	ChrX:41341465 [GRCh38] ChrX:41200718 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1584T>C (p.Arg528=)	single nucleotide variant	not provided [RCV002196322]	ChrX:41346591 [GRCh38] ChrX:41205844 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.252C>T (p.Phe84=)	single nucleotide variant	not provided [RCV002185614]	ChrX:41341584 [GRCh38] ChrX:41200837 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.152-5C>G	single nucleotide variant	Inborn genetic diseases [RCV002391260]\|not provided [RCV002117831]	ChrX:41341479 [GRCh38] ChrX:41200732 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.443+15T>C	single nucleotide variant	not provided [RCV002177376]	ChrX:41342668 [GRCh38] ChrX:41201921 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.504T>A (p.Val168=)	single nucleotide variant	not provided [RCV002123651]	ChrX:41342797 [GRCh38] ChrX:41202050 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.870A>G (p.Ser290=)	single nucleotide variant	not provided [RCV002141955]	ChrX:41344244 [GRCh38] ChrX:41203497 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.443+18A>T	single nucleotide variant	not provided [RCV002138446]	ChrX:41342671 [GRCh38] ChrX:41201924 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1770-16A>G	single nucleotide variant	not provided [RCV002102719]	ChrX:41347296 [GRCh38] ChrX:41206549 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.151+1G>A	single nucleotide variant	not provided [RCV002222856]	ChrX:41339084 [GRCh38] ChrX:41198337 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.714C>T (p.Ile238=)	single nucleotide variant	not provided [RCV002081196]	ChrX:41343771 [GRCh38] ChrX:41203024 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.679+14A>G	single nucleotide variant	not provided [RCV002081569]	ChrX:41343365 [GRCh38] ChrX:41202618 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1025+6T>C	single nucleotide variant	not provided [RCV002200494]	ChrX:41344405 [GRCh38] ChrX:41203658 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.234A>C (p.Ser78=)	single nucleotide variant	not provided [RCV002124253]	ChrX:41341566 [GRCh38] ChrX:41200819 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.46-12A>T	single nucleotide variant	not provided [RCV002164076]	ChrX:41337396 [GRCh38] ChrX:41196649 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1728T>C (p.Tyr576=)	single nucleotide variant	not provided [RCV002176536]	ChrX:41346971 [GRCh38] ChrX:41206224 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.765+2T>G	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002251210]	ChrX:41343824 [GRCh38] ChrX:41203077 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1278C>T (p.Asp426=)	single nucleotide variant	not provided [RCV002157114]	ChrX:41345511 [GRCh38] ChrX:41204764 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1091T>G (p.Ile364Arg)	single nucleotide variant	not provided [RCV002255009]	ChrX:41345245 [GRCh38] ChrX:41204498 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1616-3T>C	single nucleotide variant	Inborn genetic diseases [RCV003015304]\|not provided [RCV002119824]	ChrX:41346856 [GRCh38] ChrX:41206109 [GRCh37] ChrX:Xp11.4	benign\|likely benign
NM_001356.5(DDX3X):c.1171-8del	deletion	not provided [RCV002177657]	ChrX:41345389 [GRCh38] ChrX:41204642 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.957G>A (p.Leu319=)	single nucleotide variant	not provided [RCV002203530]	ChrX:41344331 [GRCh38] ChrX:41203584 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1171-18_1171-16del	deletion	not provided [RCV002154562]	ChrX:41345384..41345386 [GRCh38] ChrX:41204637..41204639 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1299CCT[1] (p.Leu435del)	microsatellite	not provided [RCV002222845]	ChrX:41345532..41345534 [GRCh38] ChrX:41204785..41204787 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.46-7C>G	single nucleotide variant	not provided [RCV002176661]	ChrX:41337401 [GRCh38] ChrX:41196654 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1497+18T>G	single nucleotide variant	not provided [RCV002155947]	ChrX:41346428 [GRCh38] ChrX:41205681 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.864+7_864+8del	deletion	not provided [RCV002199891]	ChrX:41344134..41344135 [GRCh38] ChrX:41203387..41203388 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1770-16_1770-14del	deletion	not provided [RCV002141184]	ChrX:41347294..41347296 [GRCh38] ChrX:41206547..41206549 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.46-17A>G	single nucleotide variant	not provided [RCV002178783]	ChrX:41337391 [GRCh38] ChrX:41196644 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1171-15T>A	single nucleotide variant	not provided [RCV002182717]	ChrX:41345389 [GRCh38] ChrX:41204642 [GRCh37] ChrX:Xp11.4	benign
NC_000023.10:g.(?_40440318)_(41782241_?)dup	duplication	not provided [RCV003122374]	ChrX:40440318..41782241 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1264_1267del (p.Val422fs)	deletion	Intellectual disability, X-linked 102 [RCV002249858]	ChrX:41345494..41345497 [GRCh38] ChrX:41204747..41204750 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001193416.3(DDX3X):c.1192G>C (p.Asp398His)	single nucleotide variant	not provided [RCV002255758]	ChrX:41345425 [GRCh38] ChrX:41204678 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1171-2A>G	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002227416]	ChrX:41345402 [GRCh38] ChrX:41204655 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.42G>C (p.Gln14His)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002259427]	ChrX:41334294 [GRCh38] ChrX:41193547 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.488dup (p.Tyr163Ter)	duplication	Neurodevelopmental disorder [RCV002277671]	ChrX:41342780..41342781 [GRCh38] ChrX:41202033..41202034 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1289T>A (p.Phe430Tyr)	single nucleotide variant	not provided [RCV002275775]	ChrX:41345522 [GRCh38] ChrX:41204775 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1922G>A (p.Gly641Asp)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002288418]	ChrX:41347652 [GRCh38] ChrX:41206905 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.578G>T (p.Gly193Val)	single nucleotide variant	Abnormal cerebral morphology [RCV002275901]	ChrX:41343250 [GRCh38] ChrX:41202503 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.798C>T (p.Tyr266=)	single nucleotide variant	Inborn genetic diseases [RCV002419075]	ChrX:41344062 [GRCh38] ChrX:41203315 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.233C>A (p.Ser78Ter)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002264847]	ChrX:41341565 [GRCh38] ChrX:41200818 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.719G>A (p.Ser240Asn)	single nucleotide variant	not provided [RCV002273621]	ChrX:41343776 [GRCh38] ChrX:41203029 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1106C>G (p.Thr369Ser)	single nucleotide variant	not provided [RCV002281504]	ChrX:41345260 [GRCh38] ChrX:41204513 [GRCh37] ChrX:Xp11.4	likely pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
NM_001356.5(DDX3X):c.1487T>G (p.Val496Gly)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002285094]	ChrX:41346400 [GRCh38] ChrX:41205653 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1315+1G>A	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002272842]	ChrX:41345549 [GRCh38] ChrX:41204802 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1241dup (p.Asn414fs)	duplication	Intellectual disability, X-linked 102 [RCV002283902]	ChrX:41345470..41345471 [GRCh38] ChrX:41204723..41204724 [GRCh37] ChrX:Xp11.4	likely pathogenic
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_001356.5(DDX3X):c.431A>G (p.Glu144Gly)	single nucleotide variant	not provided [RCV002283120]	ChrX:41342641 [GRCh38] ChrX:41201894 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1370T>C (p.Leu457Pro)	single nucleotide variant	Neurodevelopmental delay [RCV002274333]	ChrX:41346283 [GRCh38] ChrX:41205536 [GRCh37] ChrX:Xp11.4	likely 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
NM_001356.5(DDX3X):c.636T>C (p.Pro212=)	single nucleotide variant	Inborn genetic diseases [RCV002369088]\|not provided [RCV003098223]	ChrX:41343308 [GRCh38] ChrX:41202561 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.329G>A (p.Arg110His)	single nucleotide variant	not provided [RCV002297710]	ChrX:41342539 [GRCh38] ChrX:41201792 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.589_590dup (p.Thr198fs)	duplication	Intellectual disability, X-linked 102 [RCV003148231]	ChrX:41343260..41343261 [GRCh38] ChrX:41202513..41202514 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.229_230dup (p.Asp77fs)	duplication	Intellectual disability, X-linked 102 [RCV002471987]	ChrX:41341560..41341561 [GRCh38] ChrX:41200813..41200814 [GRCh37] ChrX:Xp11.4	pathogenic
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	copy number gain	not provided [RCV002474503]	ChrX:39525562..52832596 [GRCh37] ChrX:Xp11.4-11.22	pathogenic
NM_001356.5(DDX3X):c.119C>T (p.Pro40Leu)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002464988]	ChrX:41339051 [GRCh38] ChrX:41198304 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.998G>A (p.Arg333Lys)	single nucleotide variant	not provided [RCV002467292]	ChrX:41344372 [GRCh38] ChrX:41203625 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.152G>A (p.Gly51Asp)	single nucleotide variant	not provided [RCV002469511]	ChrX:41341484 [GRCh38] ChrX:41200737 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.179G>T (p.Trp60Leu)	single nucleotide variant	not provided [RCV002304385]	ChrX:41341511 [GRCh38] ChrX:41200764 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1742A>G (p.Lys581Arg)	single nucleotide variant	not provided [RCV002304464]	ChrX:41346985 [GRCh38] ChrX:41206238 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1864C>A (p.Arg622Ser)	single nucleotide variant	not provided [RCV002303589]	ChrX:41347406 [GRCh38] ChrX:41206659 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.275dup (p.Arg93fs)	duplication	Inborn genetic diseases [RCV002439473]	ChrX:41341606..41341607 [GRCh38] ChrX:41200859..41200860 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1518C>G (p.Asp506Glu)	single nucleotide variant	not provided [RCV002296004]	ChrX:41346525 [GRCh38] ChrX:41205778 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1745G>T (p.Gly582Val)	single nucleotide variant	not provided [RCV002299553]	ChrX:41346988 [GRCh38] ChrX:41206241 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1032G>C (p.Leu344Phe)	single nucleotide variant	not provided [RCV002301174]	ChrX:41345186 [GRCh38] ChrX:41204439 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1625C>T (p.Thr542Ile)	single nucleotide variant	Inborn genetic diseases [RCV002401140]	ChrX:41346868 [GRCh38] ChrX:41206121 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.721C>T (p.Gln241Ter)	single nucleotide variant	Inborn genetic diseases [RCV002370956]	ChrX:41343778 [GRCh38] ChrX:41203031 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.126T>C (p.His42=)	single nucleotide variant	Inborn genetic diseases [RCV002376211]	ChrX:41339058 [GRCh38] ChrX:41198311 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.514_520dup (p.Asn174fs)	microsatellite	Intellectual disability, X-linked 102 [RCV002302487]	ChrX:41342798..41342799 [GRCh38] ChrX:41202051..41202052 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.346T>A (p.Phe116Ile)	single nucleotide variant	Inborn genetic diseases [RCV002457282]	ChrX:41342556 [GRCh38] ChrX:41201809 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1912G>T (p.Gly638Cys)	single nucleotide variant	not provided [RCV002296435]	ChrX:41347642 [GRCh38] ChrX:41206895 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.224G>A (p.Arg75His)	single nucleotide variant	not provided [RCV002306351]	ChrX:41341556 [GRCh38] ChrX:41200809 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1873G>A (p.Gly625Arg)	single nucleotide variant	not provided [RCV002296705]	ChrX:41347415 [GRCh38] ChrX:41206668 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.45+2T>A	single nucleotide variant	not provided [RCV002512404]	ChrX:41334299 [GRCh38] ChrX:41193552 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1769G>A (p.Ser590Asn)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV003138445]\|not provided [RCV003014951]	ChrX:41347012 [GRCh38] ChrX:41206265 [GRCh37] ChrX:Xp11.4	pathogenic\|uncertain significance
NM_001356.5(DDX3X):c.509C>T (p.Ala170Val)	single nucleotide variant	not provided [RCV002972091]	ChrX:41342802 [GRCh38] ChrX:41202055 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.50C>G (p.Ala17Gly)	single nucleotide variant	not provided [RCV003014106]	ChrX:41337412 [GRCh38] ChrX:41196665 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.31G>A (p.Gly11Arg)	single nucleotide variant	not provided [RCV002461742]	ChrX:41334283 [GRCh38] ChrX:41193536 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.18G>A (p.Val6=)	single nucleotide variant	not provided [RCV002861848]	ChrX:41334270 [GRCh38] ChrX:41193523 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.679+18G>A	single nucleotide variant	not provided [RCV002755017]	ChrX:41343369 [GRCh38] ChrX:41202622 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1460T>C (p.Phe487Ser)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002510654]	ChrX:41346373 [GRCh38] ChrX:41205626 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1615+12A>T	single nucleotide variant	not provided [RCV002842150]	ChrX:41346634 [GRCh38] ChrX:41205887 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1883A>C (p.His628Pro)	single nucleotide variant	not provided [RCV003012563]	ChrX:41347425 [GRCh38] ChrX:41206678 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.263G>A (p.Arg88His)	single nucleotide variant	not provided [RCV002842961]	ChrX:41341595 [GRCh38] ChrX:41200848 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1528G>A (p.Val510Met)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV002463417]	ChrX:41346535 [GRCh38] ChrX:41205788 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.443+14G>A	single nucleotide variant	not provided [RCV002815561]	ChrX:41342667 [GRCh38] ChrX:41201920 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1818C>T (p.Ser606=)	single nucleotide variant	not provided [RCV002569912]	ChrX:41347360 [GRCh38] ChrX:41206613 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1203C>T (p.Ile401=)	single nucleotide variant	not provided [RCV003054605]	ChrX:41345436 [GRCh38] ChrX:41204689 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1955A>G (p.Tyr652Cys)	single nucleotide variant	not provided [RCV003020948]	ChrX:41347685 [GRCh38] ChrX:41206938 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1497A>G (p.Ala499=)	single nucleotide variant	not provided [RCV002889526]	ChrX:41346410 [GRCh38] ChrX:41205663 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1704G>A (p.Pro568=)	single nucleotide variant	not provided [RCV002623268]	ChrX:41346947 [GRCh38] ChrX:41206200 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1770-17T>C	single nucleotide variant	not provided [RCV002622504]	ChrX:41347295 [GRCh38] ChrX:41206548 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1769+19A>G	single nucleotide variant	not provided [RCV003038201]	ChrX:41347031 [GRCh38] ChrX:41206284 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1628C>G (p.Ser543Ter)	single nucleotide variant	not provided [RCV003019009]	ChrX:41346871 [GRCh38] ChrX:41206124 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1171-19A>G	single nucleotide variant	not provided [RCV002847030]	ChrX:41345385 [GRCh38] ChrX:41204638 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1315+17T>A	single nucleotide variant	not provided [RCV002866154]	ChrX:41345565 [GRCh38] ChrX:41204818 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1808G>A (p.Arg603Gln)	single nucleotide variant	not provided [RCV003079245]	ChrX:41347350 [GRCh38] ChrX:41206603 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.232T>C (p.Ser78Pro)	single nucleotide variant	not provided [RCV002846236]	ChrX:41341564 [GRCh38] ChrX:41200817 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1068G>A (p.Gly356=)	single nucleotide variant	not provided [RCV003020805]	ChrX:41345222 [GRCh38] ChrX:41204475 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1497+14T>A	single nucleotide variant	not provided [RCV002639720]	ChrX:41346424 [GRCh38] ChrX:41205677 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1317C>T (p.Gly439=)	single nucleotide variant	not provided [RCV002695119]	ChrX:41346230 [GRCh38] ChrX:41205483 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.518A>G (p.Asn173Ser)	single nucleotide variant	not provided [RCV003038839]	ChrX:41342811 [GRCh38] ChrX:41202064 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1432_1433del (p.Arg478fs)	microsatellite	not provided [RCV003035730]	ChrX:41346343..41346344 [GRCh38] ChrX:41205596..41205597 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1316-18A>G	single nucleotide variant	not provided [RCV002621410]	ChrX:41346211 [GRCh38] ChrX:41205464 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1026-6T>C	single nucleotide variant	not provided [RCV002912782]	ChrX:41345174 [GRCh38] ChrX:41204427 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1852_1866del (p.Ala618_Arg622del)	deletion	not provided [RCV003018939]	ChrX:41347382..41347396 [GRCh38] ChrX:41206635..41206649 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.828dup (p.Glu277fs)	duplication	Intellectual disability, X-linked 102 [RCV002795907]	ChrX:41344091..41344092 [GRCh38] ChrX:41203344..41203345 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.1572A>G (p.Glu524=)	single nucleotide variant	not provided [RCV002923387]	ChrX:41346579 [GRCh38] ChrX:41205832 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1644G>A (p.Arg548=)	single nucleotide variant	not provided [RCV002795268]	ChrX:41346887 [GRCh38] ChrX:41206140 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.345C>T (p.Gly115=)	single nucleotide variant	not provided [RCV002790350]	ChrX:41342555 [GRCh38] ChrX:41201808 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1910-20C>T	single nucleotide variant	not provided [RCV003059669]	ChrX:41347620 [GRCh38] ChrX:41206873 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.865-17A>C	single nucleotide variant	not provided [RCV003056085]	ChrX:41344222 [GRCh38] ChrX:41203475 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1635_1636insCT (p.Asn546fs)	insertion	not provided [RCV003057574]	ChrX:41346877..41346878 [GRCh38] ChrX:41206130..41206131 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1170+20A>G	single nucleotide variant	not provided [RCV003007736]	ChrX:41345344 [GRCh38] ChrX:41204597 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.553G>A (p.Val185Ile)	single nucleotide variant	not provided [RCV003059852]	ChrX:41343225 [GRCh38] ChrX:41202478 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1696_1697del (p.Glu566fs)	deletion	Inborn genetic diseases [RCV002712211]	ChrX:41346938..41346939 [GRCh38] ChrX:41206191..41206192 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.865-5T>G	single nucleotide variant	not provided [RCV003007532]	ChrX:41344234 [GRCh38] ChrX:41203487 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.103+18T>G	single nucleotide variant	not provided [RCV002853371]	ChrX:41337483 [GRCh38] ChrX:41196736 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.544-17A>G	single nucleotide variant	not provided [RCV003023205]	ChrX:41343199 [GRCh38] ChrX:41202452 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1039_1040inv (p.Asp347Ser)	inversion	not provided [RCV003023988]	ChrX:41345193..41345194 [GRCh38] ChrX:41204446..41204447 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1809A>G (p.Arg603=)	single nucleotide variant	not provided [RCV002711237]	ChrX:41347351 [GRCh38] ChrX:41206604 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1180C>T (p.Arg394Cys)	single nucleotide variant	not provided [RCV002766405]	ChrX:41345413 [GRCh38] ChrX:41204666 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1968G>C (p.Gly656=)	single nucleotide variant	not provided [RCV003040775]	ChrX:41347698 [GRCh38] ChrX:41206951 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1315+13A>G	single nucleotide variant	not provided [RCV002643097]	ChrX:41345561 [GRCh38] ChrX:41204814 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.444-7A>C	single nucleotide variant	not provided [RCV002710918]	ChrX:41342730 [GRCh38] ChrX:41201983 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1504G>A (p.Ala502Thr)	single nucleotide variant	not provided [RCV002740851]	ChrX:41346511 [GRCh38] ChrX:41205764 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1910-20C>G	single nucleotide variant	not provided [RCV002593591]	ChrX:41347620 [GRCh38] ChrX:41206873 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.705G>C (p.Leu235=)	single nucleotide variant	not provided [RCV003043323]	ChrX:41343762 [GRCh38] ChrX:41203015 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.250TTC[1] (p.Phe85del)	microsatellite	Intellectual disability, X-linked 102 [RCV002608349]\|not provided [RCV002593900]	ChrX:41341581..41341583 [GRCh38] ChrX:41200834..41200836 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.778T>A (p.Tyr260Asn)	single nucleotide variant	not provided [RCV003024323]	ChrX:41344042 [GRCh38] ChrX:41203295 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1617C>T (p.Gly539=)	single nucleotide variant	not provided [RCV002710162]	ChrX:41346860 [GRCh38] ChrX:41206113 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.800C>G (p.Pro267Arg)	single nucleotide variant	not provided [RCV002828138]	ChrX:41344064 [GRCh38] ChrX:41203317 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1772G>A (p.Ser591Asn)	single nucleotide variant	not provided [RCV002985392]	ChrX:41347314 [GRCh38] ChrX:41206567 [GRCh37] ChrX:Xp11.4	likely pathogenic
NM_001356.5(DDX3X):c.46-9C>G	single nucleotide variant	not provided [RCV003083418]	ChrX:41337399 [GRCh38] ChrX:41196652 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.416C>G (p.Pro139Arg)	single nucleotide variant	not provided [RCV002508422]	ChrX:41342626 [GRCh38] ChrX:41201879 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1575T>C (p.Tyr525=)	single nucleotide variant	not provided [RCV002790905]	ChrX:41346582 [GRCh38] ChrX:41205835 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1416T>C (p.His472=)	single nucleotide variant	not provided [RCV003023059]	ChrX:41346329 [GRCh38] ChrX:41205582 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.72A>G (p.Ser24=)	single nucleotide variant	not provided [RCV002596886]	ChrX:41337434 [GRCh38] ChrX:41196687 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.750T>G (p.Ala250=)	single nucleotide variant	not provided [RCV002828440]	ChrX:41343807 [GRCh38] ChrX:41203060 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.629C>T (p.Ala210Val)	single nucleotide variant	X-linked syndromic intellectual disability [RCV002509032]	ChrX:41343301 [GRCh38] ChrX:41202554 [GRCh37] ChrX:Xp11.4	not provided
NM_001356.5(DDX3X):c.1389T>C (p.His463=)	single nucleotide variant	not provided [RCV002872730]	ChrX:41346302 [GRCh38] ChrX:41205555 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.203C>T (p.Ala68Val)	single nucleotide variant	not provided [RCV003048993]	ChrX:41341535 [GRCh38] ChrX:41200788 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1171-18A>T	single nucleotide variant	not provided [RCV002720913]	ChrX:41345386 [GRCh38] ChrX:41204639 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1616-9C>T	single nucleotide variant	not provided [RCV002899039]	ChrX:41346850 [GRCh38] ChrX:41206103 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.581dup (p.Asn194fs)	duplication	not provided [RCV003063802]	ChrX:41343250..41343251 [GRCh38] ChrX:41202503..41202504 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.544-19C>T	single nucleotide variant	not provided [RCV002895500]	ChrX:41343197 [GRCh38] ChrX:41202450 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1315+19T>G	single nucleotide variant	not provided [RCV003011599]	ChrX:41345567 [GRCh38] ChrX:41204820 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.361C>T (p.Arg121Cys)	single nucleotide variant	not provided [RCV002676333]	ChrX:41342571 [GRCh38] ChrX:41201824 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.864+10A>C	single nucleotide variant	not provided [RCV002937796]	ChrX:41344138 [GRCh38] ChrX:41203391 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1910-16_1910-15del	deletion	not provided [RCV002649478]	ChrX:41347621..41347622 [GRCh38] ChrX:41206874..41206875 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1126_1127insT (p.Arg376fs)	insertion	not provided [RCV002877040]	ChrX:41345280..41345281 [GRCh38] ChrX:41204533..41204534 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.967A>G (p.Thr323Ala)	single nucleotide variant	not provided [RCV003061640]	ChrX:41344341 [GRCh38] ChrX:41203594 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1616-7C>G	single nucleotide variant	not provided [RCV003046019]	ChrX:41346852 [GRCh38] ChrX:41206105 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1635T>C (p.Phe545=)	single nucleotide variant	not provided [RCV002810141]	ChrX:41346878 [GRCh38] ChrX:41206131 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1648A>G (p.Ile550Val)	single nucleotide variant	not provided [RCV002630755]	ChrX:41346891 [GRCh38] ChrX:41206144 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1910-18T>C	single nucleotide variant	not provided [RCV002578154]	ChrX:41347622 [GRCh38] ChrX:41206875 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.171T>G (p.Ser57Arg)	single nucleotide variant	not provided [RCV002834130]	ChrX:41341503 [GRCh38] ChrX:41200756 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1037del (p.Val345_Leu346insTer)	deletion	not provided [RCV003046064]	ChrX:41345190 [GRCh38] ChrX:41204443 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.245C>G (p.Ser82Cys)	single nucleotide variant	not provided [RCV002810451]	ChrX:41341577 [GRCh38] ChrX:41200830 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1944T>C (p.Tyr648=)	single nucleotide variant	not provided [RCV002746601]	ChrX:41347674 [GRCh38] ChrX:41206927 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.766-12C>G	single nucleotide variant	not provided [RCV002746249]	ChrX:41344018 [GRCh38] ChrX:41203271 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.443+18A>G	single nucleotide variant	not provided [RCV002578872]	ChrX:41342671 [GRCh38] ChrX:41201924 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.1439_1441del (p.Arg480_Glu481delinsLys)	deletion	not provided [RCV002653051]	ChrX:41346352..41346354 [GRCh38] ChrX:41205605..41205607 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.971C>G (p.Pro324Arg)	single nucleotide variant	not provided [RCV003129163]	ChrX:41344345 [GRCh38] ChrX:41203598 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.1025+26_1025+33del	microsatellite	not provided [RCV002585949]	ChrX:41344415..41344422 [GRCh38] ChrX:41203668..41203675 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.3G>A (p.Met1Ile)	single nucleotide variant	not provided [RCV002608805]	ChrX:41334255 [GRCh38] ChrX:41193508 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.312C>T (p.Tyr104=)	single nucleotide variant	not provided [RCV002607232]	ChrX:41342522 [GRCh38] ChrX:41201775 [GRCh37] ChrX:Xp11.4	benign
NM_001356.5(DDX3X):c.680-21_680-20delinsGA	indel	not provided [RCV002587460]	ChrX:41343716..41343717 [GRCh38] ChrX:41202969..41202970 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1497+8del	deletion	not provided [RCV002612189]	ChrX:41346418 [GRCh38] ChrX:41205671 [GRCh37] ChrX:Xp11.4	likely benign
NM_001356.5(DDX3X):c.1601G>A (p.Arg534His)	single nucleotide variant	not provided [RCV003154461]	ChrX:41346608 [GRCh38] ChrX:41205861 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.773G>T (p.Gly258Val)	single nucleotide variant	Inborn genetic diseases [RCV003204127]	ChrX:41344037 [GRCh38] ChrX:41203290 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.610A>C (p.Thr204Pro)	single nucleotide variant	not provided [RCV003223918]	ChrX:41343282 [GRCh38] ChrX:41202535 [GRCh37] ChrX:Xp11.4	pathogenic
NM_001356.5(DDX3X):c.67_72dup (p.Ser24_Asp25insSerSer)	duplication	Intellectual disability, X-linked 102 [RCV003146027]	ChrX:41337428..41337429 [GRCh38] ChrX:41196681..41196682 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_001356.5(DDX3X):c.1329G>T (p.Leu443=)	single nucleotide variant	Intellectual disability, X-linked 102 [RCV003224666]	ChrX:41346242 [GRCh38] ChrX:41205495 [GRCh37]	uncertain significance
NM_001356.5(DDX3X):c.864+2T>G	single nucleotide variant	Intellectual disability, X-linked 102 [RCV003223547]	ChrX:41344130 [GRCh38] ChrX:41203383 [GRCh37] ChrX:Xp11.4	likely pathogenic

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR629	hsa-miR-629-3p	Mirtarbase	external_info	CLASH	Functional MTI (Weak)	23622248

Predicted Target Of

	Summary Value
Count of predictions:	3023
Count of miRNA genes:	1179
Interacting mature miRNAs:	1446
Transcripts:	ENST00000399959, ENST00000441189, ENST00000457138, ENST00000478993, ENST00000480592, ENST00000542215
Prediction methods:	Microtar, Miranda, Pita, Rnahybrid
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.

Markers in Region

U42386

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	41,208,503 - 41,208,653	UniSTS	GRCh37
Build 36	X	41,093,447 - 41,093,597	RGD	NCBI36
Celera	X	45,349,259 - 45,349,409	RGD
HuRef	X	38,940,682 - 38,940,832	UniSTS

SHGC-33274

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	26,922,488 - 26,922,612	UniSTS	GRCh37
GRCh37	X	41,208,339 - 41,208,463	UniSTS	GRCh37
Build 36	X	41,093,283 - 41,093,407	RGD	NCBI36
Celera	X	45,349,095 - 45,349,219	RGD
Celera	8	25,885,419 - 25,885,543	UniSTS
Cytogenetic Map	X	p11.3-p11.23	UniSTS
HuRef	8	25,467,239 - 25,467,363	UniSTS
HuRef	X	38,940,518 - 38,940,642	UniSTS
TNG Radiation Hybrid Map	10	57118.0	UniSTS

DDX3

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	74,898,162 - 74,898,350	UniSTS	GRCh37
GRCh37	X	41,209,188 - 41,209,373	UniSTS	GRCh37
Build 36	X	41,094,132 - 41,094,317	RGD	NCBI36
Celera	X	45,349,944 - 45,350,129	RGD
Celera	X	75,181,486 - 75,181,674	UniSTS
HuRef	X	38,941,248 - 38,941,433	UniSTS
HuRef	X	68,532,194 - 68,532,382	UniSTS
HuRef	X	38,939,324 - 38,939,595	UniSTS

RH78345

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	26,922,489 - 26,922,612	UniSTS	GRCh37
GRCh37	X	41,208,339 - 41,208,462	UniSTS	GRCh37
Build 36	X	41,093,283 - 41,093,406	RGD	NCBI36
Celera	X	45,349,095 - 45,349,218	RGD
Celera	8	25,885,420 - 25,885,543	UniSTS
Cytogenetic Map	X	p11.3-p11.23	UniSTS
HuRef	8	25,467,240 - 25,467,363	UniSTS
HuRef	X	38,940,518 - 38,940,641	UniSTS
GeneMap99-GB4 RH Map	8	104.64	UniSTS

G34988

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	41,223,624 - 41,223,722	UniSTS	GRCh37
Build 36	X	41,108,568 - 41,108,666	RGD	NCBI36
Celera	X	45,364,387 - 45,364,485	RGD
Cytogenetic Map	X	p11.3-p11.23	UniSTS
HuRef	X	38,954,897 - 38,954,995	UniSTS

DXS7525

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	41,191,163 - 41,191,339	UniSTS	GRCh37
Build 36	X	41,076,107 - 41,076,283	RGD	NCBI36
Celera	X	45,331,919 - 45,332,095	RGD
Cytogenetic Map	X	p11.3-p11.23	UniSTS
HuRef	X	38,923,482 - 38,923,658	UniSTS
Whitehead-RH Map	X	42.2	UniSTS
NCBI RH Map	X	149.6	UniSTS

UniSTS:51773

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	41,209,347 - 41,209,463	UniSTS	GRCh37
GRCh37	10	118,781,751 - 118,781,867	UniSTS	GRCh37
Build 36	X	41,094,291 - 41,094,407	RGD	NCBI36
Celera	X	45,350,103 - 45,350,219	RGD
Celera	10	112,511,095 - 112,511,211	UniSTS
HuRef	10	112,409,880 - 112,409,996	UniSTS
HuRef	X	38,941,407 - 38,941,523	UniSTS

DBX

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	41,209,110 - 41,209,205	UniSTS	GRCh37
GRCh37	X	74,898,333 - 74,898,429	UniSTS	GRCh37
Build 36	X	41,094,054 - 41,094,149	RGD	NCBI36
Celera	X	45,349,866 - 45,349,961	RGD
Celera	X	75,181,657 - 75,181,754	UniSTS

G41926

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	X	p11.3-p11.23	UniSTS

DDX3X

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	41,204,449 - 41,205,516	UniSTS	GRCh37
Celera	X	45,345,205 - 45,346,272	UniSTS
Cytogenetic Map	X	p11.3-p11.23	UniSTS

G49473

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	41,201,783 - 41,203,030	UniSTS	GRCh37
Celera	X	45,342,539 - 45,343,786	UniSTS
Cytogenetic Map	X	p11.3-p11.23	UniSTS
HuRef	X	38,934,102 - 38,935,349	UniSTS

DDX3

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	74,898,162 - 74,898,350	UniSTS	GRCh37
GRCh37	X	41,209,188 - 41,209,373	UniSTS	GRCh37
Build 36	X	41,094,132 - 41,094,317	RGD	NCBI36
Celera	X	45,349,944 - 45,350,129	RGD
Celera	X	75,181,486 - 75,181,674	UniSTS
HuRef	X	38,941,248 - 38,941,433	UniSTS
HuRef	X	68,532,194 - 68,532,382	UniSTS
HuRef	X	38,939,324 - 38,939,595	UniSTS

Expression

RNA-SEQ Expression

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

	alimentary part of gastrointestinal system	circulatory system	endocrine system	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system	adipose tissue	appendage	entire extraembryonic component	pharyngeal arch
High					1						1
Medium	2432	2881	1714	613	1902	455	4354	2137	3604	417	1447	1608	171		1204	2788	4
Low	2	106	12	10	46	9	2	57	126	2	11	3	1				2	1
Below cutoff	3	1		1	2	1		1	4		1	2	3	1				1

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_012830	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001193416	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001193417	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001356	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001363819	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_126093	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_126094	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011543892	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029313	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054326592	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA481139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB208983	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB451220	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB451343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC073076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF000982	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF000983	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF061337	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF086430	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI698207	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK127902	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK291153	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296906	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297159	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304661	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304689	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK310891	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL391647	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AU144400	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY776161	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007668	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011819	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC055083	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF980241	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM454841	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM833870	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ921695	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB107740	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471141	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA232063	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB065845	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L37696	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U50553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z93015	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar