UBA1 (ubiquitin like modifier activating enzyme 1)

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Gene: UBA1 (ubiquitin like modifier activating enzyme 1) Homo sapiens

Analyze

Symbol:

UBA1

Name:

ubiquitin like modifier activating enzyme 1

RGD ID:

1604847

HGNC Page

HGNC:12469

Description:

Enables ubiquitin activating enzyme activity. Involved in DNA damage response. Located in several cellular components, including bounding membrane of organelle; desmosome; and heterochromatin. Implicated in VEXAS syndrome and X-linked spinal muscular atrophy 2.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

A1S9; A1S9T; A1S9T and BN75 temperature sensitivity complementing; A1ST; AMCX1; CFAP124; GXP1; MGC4781; POC20; POC20 centriolar protein homolog; SMAX2; testicular secretory protein Li 63; UBA1, ubiquitin-activating enzyme E1 homolog A; UBA1A; UBE1; UBE1X; ubiquitin-like modifier activating enzyme 1; ubiquitin-like modifier-activating enzyme 1; VEXAS

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	47,190,847 - 47,215,128 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	47,190,861 - 47,215,128 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	47,050,246 - 47,074,527 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	46,935,204 - 46,959,471 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	51,245,489 - 51,269,819 (+)	NCBI		Celera
Cytogenetic Map	X	p11.3	NCBI
HuRef	X	44,761,319 - 44,784,789 (+)	NCBI		HuRef
CHM1_1	X	47,081,686 - 47,106,022 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	46,600,543 - 46,624,827 (+)	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)

congenital disorder of glycosylation type IIm (IAGP)

genetic disease (IAGP)

immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (IAGP)

neurodegeneration with brain iron accumulation 5 (IAGP)

Neurodevelopmental Disorders (IAGP)

squamous cell carcinoma (EXP)

syndromic X-linked intellectual disability Lubs type (IAGP)

VEXAS syndrome (IAGP)

X-linked epilepsy with variable learning disabilities and behavior disorders (IAGP)

X-linked severe congenital neutropenia (IAGP)

X-linked spinal muscular atrophy 2 (EXP,IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

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

1,2-dimethylhydrazine (ISO)

1,3-dinitrobenzene (ISO)

2,2,2-tetramine (EXP)

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

2,5-hexanedione (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (ISO)

4-hydroxynon-2-enal (EXP)

4-phenylbutyric acid (ISO)

6-propyl-2-thiouracil (ISO)

actinomycin D (EXP)

aflatoxin B1 (EXP)

amitrole (ISO)

aristolochic acid A (EXP)

Aroclor 1254 (ISO)

arsane (ISO)

arsenic atom (ISO)

arsenous acid (EXP)

benomyl (EXP)

Benoxacor (ISO)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (EXP,ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

cobalt dichloride (EXP)

copper(II) chloride (EXP)

coumarin (EXP)

CU-O LINKAGE (EXP)

Cuprizon (EXP)

dexamethasone (EXP)

dextran sulfate (ISO)

diarsenic trioxide (EXP)

diethyldithiocarbamic acid (EXP,ISO)

dimethyldithiocarbamate (EXP)

doxorubicin (EXP,ISO)

elemental selenium (EXP)

enzyme inhibitor (EXP)

epoxiconazole (ISO)

ethanol (ISO)

FR900359 (EXP)

furan (ISO)

glafenine (ISO)

indometacin (EXP)

inulin (ISO)

isoprenaline (ISO)

ivermectin (EXP)

lead(0) (ISO)

lead(II) chloride (ISO)

maneb (EXP)

manganese(II) chloride (EXP)

metam (EXP)

methamphetamine (ISO)

methimazole (ISO)

methotrexate (EXP)

methylmercury chloride (ISO)

molinate (EXP)

N-nitrosodiethylamine (ISO)

Nutlin-3 (EXP)

ochratoxin A (EXP)

perfluorooctane-1-sulfonic acid (ISO)

PhIP (ISO)

potassium dichromate (EXP)

propiconazole (ISO)

prostaglandin A1 (ISO)

pyrrolidine dithiocarbamate (EXP)

quercetin (EXP)

rotenone (ISO)

SB 431542 (EXP)

selenium atom (EXP)

silicon dioxide (EXP)

SKF 38393 (ISO)

sodium arsenite (ISO)

streptozocin (ISO)

sulfadimethoxine (ISO)

temozolomide (EXP)

thapsigargin (ISO)

theophylline (ISO)

thiram (EXP)

titanium dioxide (ISO)

topotecan (EXP)

Tributyltin oxide (ISO)

trimellitic anhydride (ISO)

triphenyl phosphate (EXP)

valproic acid (EXP)

vinclozolin (ISO)

vitamin E (EXP)

zearalenone (ISO)

zinc atom (EXP)

zinc dichloride (EXP)

zinc(0) (EXP)

ziram (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

DNA damage response (IBA,IDA)

protein modification by small protein conjugation (IEA)

protein modification process (IEA)

protein ubiquitination (IBA,IEA,TAS)

ubiquitin-dependent protein catabolic process (IBA)

Cellular Component

cytoplasm (IBA,IDA,IEA,IMP)

cytosol (IDA,TAS)

desmosome (IDA)

endosome membrane (IDA)

extracellular exosome (HDA)

heterochromatin (IDA)

lysosomal membrane (IDA)

mitochondrion (IDA,IEA)

nucleoplasm (IDA,TAS)

nucleus (HDA,IBA,IDA,IEA,IMP)

rough endoplasmic reticulum membrane (IDA)

Molecular Function

ATP binding (IEA)

ligase activity (IEA)

protein binding (IPI)

RNA binding (HDA)

ubiquitin activating enzyme activity (IBA,IDA,IEA,IMP,TAS)

ubiquitin-like modifier activating enzyme activity (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

Parkinson's disease pathway (IEA)

ubiquitin/proteasome degradation pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal anterior horn cell morphology (IAGP)

Abnormal muscle fiber morphology (IAGP)

Abnormal periventricular white matter morphology (IAGP)

Abnormality of metabolism/homeostasis (IAGP)

Anarthria (IAGP)

Ankle flexion contracture (IAGP)

Areflexia (IAGP)

Arteritis (IAGP)

Arthralgia (IAGP)

Arthritis (IAGP)

Arthrogryposis multiplex congenita (IAGP)

Autism (IAGP)

Autoimmune antibody positivity (IAGP)

Bone fracture (IAGP)

Chondritis of pinna (IAGP)

Cognitive impairment (IAGP)

Cryptorchidism (IAGP)

Cupped ribs (IAGP)

Decreased compound muscle action potential amplitude (IAGP)

Decreased fetal movement (IAGP)

Deep venous thrombosis (IAGP)

Degeneration of anterior horn cells (IAGP)

Distal muscle weakness (IAGP)

Elbow flexion contracture (IAGP)

Elevated circulating C-reactive protein concentration (IAGP)

Elevated circulating creatine kinase concentration (IAGP)

Elevated erythrocyte sedimentation rate (IAGP)

EMG: neuropathic changes (IAGP)

Erythroid dysplasia (IAGP)

Facial palsy (IAGP)

Fatigue (IAGP)

Flexion contracture (IAGP)

Generalized hypotonia (IAGP)

Generalized muscle weakness (IAGP)

High palate (IAGP)

Hip contracture (IAGP)

Hypospadias (IAGP)

Hypotonia (IAGP)

Infantile muscular hypotonia (IAGP)

Inflammatory abnormality of the skin (IAGP)

Inflammatory myopathy (IAGP)

Inguinal hernia (IAGP)

Interphalangeal joint contracture of finger (IAGP)

Knee flexion contracture (IAGP)

Kyphoscoliosis (IAGP)

Macrocytic anemia (IAGP)

Megakaryocyte dysplasia (IAGP)

Micrognathia (IAGP)

Micropenis (IAGP)

Middle age onset (IAGP)

Mildly elevated creatine kinase (IAGP)

Motor polyneuropathy (IAGP)

Multiple joint contractures (IAGP)

Myelodysplasia (IAGP)

Myopathic facies (IAGP)

Myopathy (IAGP)

Nasal chondritis (IAGP)

Neonatal onset (IAGP)

Neutrophilic infiltration of the skin (IAGP)

Night sweats (IAGP)

Persistent head lag (IAGP)

Poor suck (IAGP)

Potter facies (IAGP)

Proximal muscle weakness (IAGP)

Ptosis (IAGP)

Pulmonary infiltrates (IAGP)

Recurrent fever (IAGP)

Respiratory distress (IAGP)

Respiratory insufficiency (IAGP)

Respiratory insufficiency due to muscle weakness (IAGP)

Scoliosis (IAGP)

Sensorineural hearing impairment (IAGP)

Severe muscular hypotonia (IAGP)

Short ribs (IAGP)

Skeletal muscle atrophy (IAGP)

Skin plaque (IAGP)

Spinal muscular atrophy (IAGP)

Thrombocytopenia (IAGP)

Thromboembolism (IAGP)

Tongue fasciculations (IAGP)

Typified by somatic mosaicism (IAGP)

Weak cry (IAGP)

Weakness of facial musculature (IAGP)

X-linked recessive inheritance (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:1376922	PMID:1544321	PMID:1606621	PMID:1845793	PMID:1871145	PMID:1986373	PMID:2265617	PMID:2323223	PMID:2390975	PMID:2842867	PMID:3390177	PMID:7673335
PMID:7724583	PMID:8125920	PMID:8573590	PMID:8576257	PMID:8663123	PMID:9153201	PMID:9467000	PMID:9857030	PMID:11447495	PMID:11807090	PMID:11846513	PMID:12477932
PMID:12629039	PMID:12883554	PMID:14517261	PMID:14702039	PMID:14733918	PMID:14744259	PMID:15202508	PMID:15247261	PMID:15302935	PMID:15489334	PMID:15592455	PMID:16169070
PMID:16227972	PMID:16263121	PMID:16365295	PMID:16428300	PMID:16595681	PMID:16712842	PMID:16713569	PMID:16964243	PMID:17060614	PMID:17550899	PMID:17597759	PMID:17956732
PMID:17980597	PMID:18029348	PMID:18179898	PMID:18661401	PMID:18678647	PMID:19019082	PMID:19056867	PMID:19135240	PMID:19199708	PMID:19250909	PMID:19490893	PMID:19723899
PMID:20004025	PMID:20301739	PMID:20360068	PMID:20458337	PMID:20653130	PMID:21041297	PMID:21081666	PMID:21145461	PMID:21319273	PMID:21630459	PMID:21685362	PMID:21873635
PMID:21900206	PMID:21988832	PMID:22069333	PMID:22145905	PMID:22190034	PMID:22279528	PMID:22350887	PMID:22370482	PMID:22427669	PMID:22434192	PMID:22456334	PMID:22658674
PMID:22681889	PMID:22797925	PMID:22863883	PMID:22939629	PMID:22999844	PMID:23003343	PMID:23349634	PMID:23376485	PMID:23524849	PMID:23533145	PMID:23824909	PMID:23862649
PMID:24075985	PMID:24399297	PMID:24711643	PMID:24743594	PMID:24816100	PMID:24912152	PMID:25026213	PMID:25138535	PMID:25147182	PMID:25192599	PMID:25207809	PMID:25209502
PMID:25275296	PMID:25515538	PMID:25527291	PMID:25737280	PMID:25756610	PMID:25768649	PMID:25882842	PMID:25921289	PMID:26288249	PMID:26296656	PMID:26344197	PMID:26432019
PMID:26485645	PMID:26496610	PMID:26508657	PMID:26514267	PMID:26618866	PMID:26638075	PMID:26641092	PMID:26752685	PMID:26777405	PMID:26831064	PMID:26972000	PMID:27173435
PMID:27182664	PMID:27248496	PMID:27297094	PMID:27342126	PMID:27371349	PMID:27425610	PMID:27462432	PMID:27880917	PMID:28134249	PMID:28190767	PMID:28302793	PMID:28330616
PMID:28366632	PMID:28514442	PMID:28515276	PMID:28581483	PMID:28924046	PMID:29034082	PMID:29128334	PMID:29229926	PMID:29263404	PMID:29326975	PMID:29467282	PMID:29507755
PMID:29509190	PMID:29537486	PMID:29643511	PMID:29791485	PMID:29845934	PMID:29859926	PMID:29871923	PMID:29991511	PMID:30097011	PMID:30196744	PMID:30246024	PMID:30279270
PMID:30336976	PMID:30340022	PMID:30425250	PMID:30455355	PMID:30587574	PMID:30631154	PMID:30686098	PMID:30711629	PMID:30770245	PMID:30809309	PMID:30884312	PMID:30890647
PMID:30948266	PMID:31067491	PMID:31091453	PMID:31157974	PMID:31230944	PMID:31299612	PMID:31300519	PMID:31405213	PMID:31409639	PMID:31417184	PMID:31501420	PMID:31518855
PMID:31536960	PMID:31586073	PMID:31638574	PMID:31665637	PMID:31700050	PMID:31871319	PMID:31873223	PMID:31887036	PMID:31980649	PMID:31995728	PMID:32101714	PMID:32129710
PMID:32203420	PMID:32246052	PMID:32249768	PMID:32315024	PMID:32347575	PMID:32416067	PMID:32457219	PMID:32529326	PMID:32552912	PMID:32687490	PMID:32694731	PMID:32698014
PMID:32707033	PMID:32786267	PMID:32807901	PMID:32812023	PMID:32814053	PMID:32842143	PMID:32929329	PMID:32963011	PMID:32994395	PMID:33037615	PMID:33082289	PMID:33108101
PMID:33111431	PMID:33239621	PMID:33355669	PMID:33417871	PMID:33545068	PMID:33558705	PMID:33567341	PMID:33619271	PMID:33779074	PMID:33789873	PMID:33848125	PMID:33916271
PMID:33961781	PMID:34048852	PMID:34074684	PMID:34189442	PMID:34193603	PMID:34213531	PMID:34344988	PMID:34349018	PMID:34373451	PMID:34391501	PMID:34428256	PMID:34474632
PMID:34518685	PMID:34591612	PMID:34642328	PMID:34709727	PMID:34728620	PMID:34732716	PMID:34739193	PMID:34795231	PMID:34857952	PMID:34964862	PMID:34971705	PMID:35013556
PMID:35032548	PMID:35094194	PMID:35256949	PMID:35271311	PMID:35355521	PMID:35446349	PMID:35509820	PMID:35545034	PMID:35546148	PMID:35562734	PMID:35563538	PMID:35671810
PMID:35676659	PMID:35687106	PMID:35696571	PMID:35713654	PMID:35831314	PMID:35944360	PMID:35973513	PMID:35987950	PMID:35996994	PMID:36002395	PMID:36030824	PMID:36055981
PMID:36074076	PMID:36114006	PMID:36114200	PMID:36129980	PMID:36162503	PMID:36168627	PMID:36180891	PMID:36215168	PMID:36225252	PMID:36232890	PMID:36282215	PMID:36424410
PMID:36517590	PMID:36526897	PMID:36537591	PMID:36563856	PMID:36654301	PMID:36660824	PMID:36758106	PMID:36762613	PMID:37059091	PMID:37062784	PMID:37108203	PMID:37108544
PMID:37139431	PMID:37223481	PMID:37314180	PMID:37317656	PMID:37632778	PMID:37827155	PMID:38113892	PMID:38167209	PMID:38225170	PMID:38280479	PMID:38334954	PMID:38360993
PMID:38687605	PMID:39147351	PMID:39183260	PMID:39231216

Genomics

Comparative Map Data

UBA1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	47,190,847 - 47,215,128 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	47,190,861 - 47,215,128 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	47,050,246 - 47,074,527 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	46,935,204 - 46,959,471 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	51,245,489 - 51,269,819 (+)	NCBI		Celera
Cytogenetic Map	X	p11.3	NCBI
HuRef	X	44,761,319 - 44,784,789 (+)	NCBI		HuRef
CHM1_1	X	47,081,686 - 47,106,022 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	46,600,543 - 46,624,827 (+)	NCBI		T2T-CHM13v2.0

Uba1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	20,524,660 - 20,549,420 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	20,524,565 - 20,549,418 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	20,658,302 - 20,683,179 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	20,658,326 - 20,683,179 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	20,235,547 - 20,260,305 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	19,815,380 - 19,840,138 (+)	NCBI		MGSCv36	mm8
Celera	X	18,792,750 - 18,813,110 (+)	NCBI		Celera
Cytogenetic Map	X	A1.3	NCBI
cM Map	X	16.15	NCBI

Uba1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	4,062,216 - 4,084,192 (-)	NCBI		GRCr8
mRatBN7.2	X	1,508,700 - 1,530,677 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	1,508,666 - 1,530,636 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	1,542,708 - 1,561,181 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	5,018,410 - 5,036,883 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	1,333,715 - 1,352,202 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	1,723,135 - 1,745,147 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	1,723,174 - 1,741,701 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	2,516,602 - 2,538,602 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	12,926,049 - 12,944,522 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	X	12,931,605 - 12,950,078 (-)	NCBI
Celera	X	2,072,832 - 2,091,181 (-)	NCBI		Celera
Cytogenetic Map	X	q11	NCBI

Uba1
(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_004955516	876,354 - 891,206 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955516	876,542 - 898,763 (-)	NCBI	ChiLan1.0	ChiLan1.0

UBA1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	X	48,818,274 - 48,842,554 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	48,821,657 - 48,845,930 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	39,627,753 - 39,652,023 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	47,485,374 - 47,509,654 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	47,493,331 - 47,509,654 (+)	Ensembl	panpan1.1		panPan2

UBA1
(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	40,784,240 - 40,807,072 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	40,783,809 - 40,807,069 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	15,159,372 - 15,182,235 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	40,918,209 - 40,941,099 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	40,918,225 - 40,941,097 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	40,905,897 - 40,928,783 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	40,893,780 - 40,916,640 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	40,986,880 - 41,009,744 (+)	NCBI		UU_Cfam_GSD_1.0

Uba1
(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	33,120,490 - 33,143,491 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936502	12,969,145 - 12,984,238 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936502	12,961,236 - 12,984,235 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

UBA1
(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	41,814,101 - 41,832,812 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	41,810,726 - 41,832,818 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	46,779,768 - 46,793,857 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

UBA1
(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	44,377,765 - 44,402,378 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	44,385,940 - 44,405,051 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666076	9,636,110 - 9,660,878 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Uba1
(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_004624887	3,963,871 - 3,984,243 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624887	3,961,699 - 3,983,772 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in UBA1
549 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_003334.4(UBA1):c.574C>A (p.Arg192=)	single nucleotide variant	Inborn genetic diseases [RCV002350272]\|Infantile-onset X-linked spinal muscular atrophy [RCV001399699]	ChrX:47200987 [GRCh38] ChrX:47060386 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2464+6_2464+9del	deletion	Inborn genetic diseases [RCV002458055]\|Infantile-onset X-linked spinal muscular atrophy [RCV000640815]	ChrX:47211230..47211233 [GRCh38] ChrX:47070629..47070632 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2094G>A (p.Gln698=)	single nucleotide variant	Inborn genetic diseases [RCV002420744]\|Infantile-onset X-linked spinal muscular atrophy [RCV000640821]	ChrX:47210018 [GRCh38] ChrX:47069417 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1420-8C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000552081]\|not provided [RCV003437255]	ChrX:47203533 [GRCh38] ChrX:47062932 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2351G>A (p.Arg784Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000640822]\|not provided [RCV004714093]\|not specified [RCV000602980]	ChrX:47211112 [GRCh38] ChrX:47070511 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.1853A>G (p.Tyr618Cys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000557966]	ChrX:47206359 [GRCh38] ChrX:47065758 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1401C>G (p.Gly467=)	single nucleotide variant	Inborn genetic diseases [RCV002395384]\|Infantile-onset X-linked spinal muscular atrophy [RCV000544070]	ChrX:47203196 [GRCh38] ChrX:47062595 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000010434]	ChrX:47205989 [GRCh38] ChrX:47065388 [GRCh37] ChrX:Xp11.3	pathogenic\|uncertain significance
NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000010435]	ChrX:47206011 [GRCh38] ChrX:47065410 [GRCh37] ChrX:Xp11.3	pathogenic
NM_003334.4(UBA1):c.1731C>T (p.Asn577=)	single nucleotide variant	Inborn genetic diseases [RCV002399316]\|Infantile-onset X-linked spinal muscular atrophy [RCV000010436]	ChrX:47206103 [GRCh38] ChrX:47065502 [GRCh37] ChrX:Xp11.3	pathogenic\|likely benign
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: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:2790845-155699618)x3	copy number gain	See cases [RCV000052359]	ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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 Xp11.4-11.23(chrX:41434043-47880733)x1	copy number loss	See cases [RCV000053088]	ChrX:41434043..47880733 [GRCh38] ChrX:41293296..47619970 [GRCh37] ChrX:41178240..47625076 [NCBI36] ChrX:Xp11.4-11.23	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: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: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: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
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_003334.4(UBA1):c.741T>G (p.Phe247Leu)	single nucleotide variant	Inborn genetic diseases [RCV002384387]\|Infantile-onset X-linked spinal muscular atrophy [RCV001312513]	ChrX:47201540 [GRCh38] ChrX:47060939 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1150C>T (p.Arg384Trp)	single nucleotide variant	Inborn genetic diseases [RCV004036262]\|Infantile-onset X-linked spinal muscular atrophy [RCV001303078]\|not provided [RCV003457992]	ChrX:47202731 [GRCh38] ChrX:47062130 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2575A>G (p.Met859Val)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001312347]	ChrX:47212792 [GRCh38] ChrX:47072191 [GRCh37] ChrX:Xp11.3	uncertain significance
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:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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
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-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 Xp22.33-11.23(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 Xp22.33-11.21(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 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-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 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 Xp22.31-11.22(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-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 Xp11.3-11.22(chrX:43361870-50931794)x3	copy number gain	See cases [RCV000134956]	ChrX:43361870..50931794 [GRCh38] ChrX:43221119..50674794 [GRCh37] ChrX:43106063..50691534 [NCBI36] ChrX:Xp11.3-11.22	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 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: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-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-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-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 Xp22.33-11.22(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-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 Xp11.3-11.23(chrX:44765664-49343053)x3	copy number gain	See cases [RCV000137271]	ChrX:44765664..49343053 [GRCh38] ChrX:44624910..49218180 [GRCh37] ChrX:44509854..49105124 [NCBI36] ChrX:Xp11.3-11.23	likely 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 Xp11.3(chrX:46464096-47419599)x2	copy number gain	See cases [RCV000139661]	ChrX:46464096..47419599 [GRCh38] ChrX:46323531..47278998 [GRCh37] ChrX:46208475..47163942 [NCBI36] ChrX:Xp11.3	uncertain significance
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 Xp11.3-11.22(chrX:46971389-54130971)x3	copy number gain	See cases [RCV000141567]	ChrX:46971389..54130971 [GRCh38] ChrX:46818746..53957191 [GRCh37] ChrX:46703690..54174129 [NCBI36] ChrX:Xp11.3-11.22	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 Xp11.3-11.23(chrX:44632305-47607180)x2	copy number gain	See cases [RCV000143089]	ChrX:44632305..47607180 [GRCh38] ChrX:44491551..47466579 [GRCh37] ChrX:44376495..47351523 [NCBI36] ChrX:Xp11.3-11.23	likely 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-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 Xp22.33-11.21(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: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
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
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:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [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
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_003334.4(UBA1):c.2595A>G (p.Ala865=)	single nucleotide variant	Inborn genetic diseases [RCV002431614]\|Infantile-onset X-linked spinal muscular atrophy [RCV000559011]\|UBA1-related disorder [RCV003905390]\|not specified [RCV000603398]	ChrX:47212812 [GRCh38] ChrX:47072211 [GRCh37] ChrX:Xp11.3	benign\|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_003334.4(UBA1):c.423T>C (p.Tyr141=)	single nucleotide variant	Inborn genetic diseases [RCV002331063]\|Infantile-onset X-linked spinal muscular atrophy [RCV001442280]\|not provided [RCV003437317]\|not specified [RCV000599771]	ChrX:47199557 [GRCh38] ChrX:47058956 [GRCh37] ChrX:Xp11.3	likely benign
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:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [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:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [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
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	copy number gain	See cases [RCV000240019]	ChrX:44734936..79676121 [GRCh37] ChrX:Xp11.3-q21.1	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:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [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:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_003334.4(UBA1):c.2839-7C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000261437]	ChrX:47214320 [GRCh38] ChrX:47073719 [GRCh37] ChrX:Xp11.3	benign\|uncertain significance
NM_003334.4(UBA1):c.430G>A (p.Val144Ile)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000357217]	ChrX:47199564 [GRCh38] ChrX:47058963 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.1543C>A (p.Arg515=)	single nucleotide variant	Inborn genetic diseases [RCV002402094]\|Infantile-onset X-linked spinal muscular atrophy [RCV000392406]	ChrX:47203664 [GRCh38] ChrX:47063063 [GRCh37] ChrX:Xp11.3	benign\|likely benign\|uncertain significance
NM_003334.4(UBA1):c.1742-11G>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000344795]\|not provided [RCV004713892]\|not specified [RCV000424315]	ChrX:47206237 [GRCh38] ChrX:47065636 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2928C>T (p.Leu976=)	single nucleotide variant	Inborn genetic diseases [RCV002436226]\|Infantile-onset X-linked spinal muscular atrophy [RCV000314272]	ChrX:47214416 [GRCh38] ChrX:47073815 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.811+9C>G	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000317636]\|not provided [RCV000714143]\|not specified [RCV000418622]	ChrX:47201619 [GRCh38] ChrX:47061018 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.*123C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000370928]	ChrX:47215052 [GRCh38] ChrX:47074451 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.351C>T (p.Tyr117=)	single nucleotide variant	Inborn genetic diseases [RCV002450945]\|Infantile-onset X-linked spinal muscular atrophy [RCV000320895]	ChrX:47199485 [GRCh38] ChrX:47058884 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.909+12G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000372246]	ChrX:47202265 [GRCh38] ChrX:47061664 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000287440]\|Infantile-onset X-linked spinal muscular atrophy [RCV002488833]\|UBA1-related disorder [RCV003932525]\|not provided [RCV001573066]\|not specified [RCV000610331]	ChrX:47206074 [GRCh38] ChrX:47065473 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.2838+8C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000353809]	ChrX:47213189 [GRCh38] ChrX:47072588 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1242C>T (p.Ser414=)	single nucleotide variant	Inborn genetic diseases [RCV002379262]\|Infantile-onset X-linked spinal muscular atrophy [RCV000332834]\|UBA1-related disorder [RCV003957880]\|not provided [RCV001718798]	ChrX:47202951 [GRCh38] ChrX:47062350 [GRCh37] ChrX:Xp11.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_003334.4(UBA1):c.1340G>A (p.Arg447His)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000293475]\|not provided [RCV004713891]\|not specified [RCV000428872]	ChrX:47203135 [GRCh38] ChrX:47062534 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2004-13C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000392412]\|not provided [RCV001643122]	ChrX:47209915 [GRCh38] ChrX:47069314 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.1137C>T (p.Asp379=)	single nucleotide variant	Inborn genetic diseases [RCV002323573]\|Infantile-onset X-linked spinal muscular atrophy [RCV000296556]\|not provided [RCV001706619]	ChrX:47202718 [GRCh38] ChrX:47062117 [GRCh37] ChrX:Xp11.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_003334.4(UBA1):c.2308A>C (p.Asn770His)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000341212]\|UBA1-related disorder [RCV003957881]\|not provided [RCV000714142]	ChrX:47211069 [GRCh38] ChrX:47070468 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.720C>T (p.His240=)	single nucleotide variant	Inborn genetic diseases [RCV002374611]\|Infantile-onset X-linked spinal muscular atrophy [RCV000262304]	ChrX:47201519 [GRCh38] ChrX:47060918 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.1296C>T (p.Leu432=)	single nucleotide variant	Inborn genetic diseases [RCV002379263]\|Infantile-onset X-linked spinal muscular atrophy [RCV000387393]\|UBA1-related disorder [RCV003902452]\|not provided [RCV003437153]\|not specified [RCV000608875]	ChrX:47203005 [GRCh38] ChrX:47062404 [GRCh37] ChrX:Xp11.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_003334.4(UBA1):c.2838+7del	deletion	Infantile-onset X-linked spinal muscular atrophy [RCV000301252]	ChrX:47213184 [GRCh38] ChrX:47072583 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys)	single nucleotide variant	Inborn genetic diseases [RCV002392932]\|Infantile-onset X-linked spinal muscular atrophy [RCV000346007]\|not provided [RCV000523614]	ChrX:47203607 [GRCh38] ChrX:47063006 [GRCh37] ChrX:Xp11.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_003334.4(UBA1):c.2364C>T (p.Ala788=)	single nucleotide variant	Inborn genetic diseases [RCV002446630]\|Infantile-onset X-linked spinal muscular atrophy [RCV000404330]\|not specified [RCV000433590]	ChrX:47211125 [GRCh38] ChrX:47070524 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.-178G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000265712]	ChrX:47193847 [GRCh38] ChrX:47053246 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2220G>A (p.Pro740=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000302595]\|not provided [RCV004713893]\|not specified [RCV000430649]	ChrX:47210862 [GRCh38] ChrX:47070261 [GRCh37] ChrX:Xp11.3	benign
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_003334.4(UBA1):c.842C>T (p.Ser281Phe)	single nucleotide variant	not provided [RCV000488993]	ChrX:47202186 [GRCh38] ChrX:47061585 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_153280.2(UBA1):c.*203C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000356987]\|not provided [RCV001597134]	ChrX:47215132 [GRCh38] ChrX:47074531 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2941-14C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002062870]\|not specified [RCV000599871]	ChrX:47214523 [GRCh38] ChrX:47073922 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.442A>G (p.Thr148Ala)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000640816]	ChrX:47199576 [GRCh38] ChrX:47058975 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.878G>A (p.Ser293Asn)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000700483]\|not provided [RCV000593311]	ChrX:47202222 [GRCh38] ChrX:47061621 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2003+12G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002066540]\|not specified [RCV000599645]	ChrX:47209699 [GRCh38] ChrX:47069098 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.1404G>T (p.Lys468Asn)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000640814]	ChrX:47203199 [GRCh38] ChrX:47062598 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1638A>G (p.Thr546=)	single nucleotide variant	Inborn genetic diseases [RCV002388072]\|Infantile-onset X-linked spinal muscular atrophy [RCV000640817]	ChrX:47206010 [GRCh38] ChrX:47065409 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2793G>A (p.Leu931=)	single nucleotide variant	Inborn genetic diseases [RCV002440282]\|Infantile-onset X-linked spinal muscular atrophy [RCV000640818]	ChrX:47213136 [GRCh38] ChrX:47072535 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.388G>C (p.Val130Leu)	single nucleotide variant	Inborn genetic diseases [RCV002358817]\|Infantile-onset X-linked spinal muscular atrophy [RCV000640823]	ChrX:47199522 [GRCh38] ChrX:47058921 [GRCh37] ChrX:Xp11.3	benign\|likely benign\|uncertain significance
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
NM_003334.4(UBA1):c.1159G>A (p.Ala387Thr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000540370]	ChrX:47202740 [GRCh38] ChrX:47062139 [GRCh37] ChrX:Xp11.3	uncertain significance
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
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:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [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 Xp22.33-11.21(chrX:168546-55529093)x1	copy number loss	See cases [RCV000446584]	ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(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:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 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
NM_003334.4(UBA1):c.812-4G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001520697]\|UBA1-related disorder [RCV003970197]\|not specified [RCV000420848]	ChrX:47202152 [GRCh38] ChrX:47061551 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.1695C>T (p.Phe565=)	single nucleotide variant	Inborn genetic diseases [RCV002402187]\|Infantile-onset X-linked spinal muscular atrophy [RCV002522493]\|not specified [RCV000434694]	ChrX:47206067 [GRCh38] ChrX:47065466 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.1742-18G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002059616]\|not provided [RCV004713966]\|not specified [RCV000418600]	ChrX:47206230 [GRCh38] ChrX:47065629 [GRCh37] ChrX:Xp11.3	benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_003334.4(UBA1):c.176+18C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002521838]\|not specified [RCV000419569]	ChrX:47199124 [GRCh38] ChrX:47058523 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2157G>A (p.Ser719=)	single nucleotide variant	Inborn genetic diseases [RCV002429398]\|not specified [RCV000429621]	ChrX:47210081 [GRCh38] ChrX:47069480 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2329G>A (p.Gly777Arg)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001861629]\|not provided [RCV000443698]	ChrX:47211090 [GRCh38] ChrX:47070489 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1305C>T (p.Asp435=)	single nucleotide variant	Inborn genetic diseases [RCV002379393]\|not specified [RCV000444721]	ChrX:47203014 [GRCh38] ChrX:47062413 [GRCh37] ChrX:Xp11.3	likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 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 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	copy number loss	See cases [RCV000512136]	ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21	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
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
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	copy number loss	See cases [RCV000511615]	ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21	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
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 Xp21.2-q28(chrX:31088082-155233731)x1	copy number loss	See cases [RCV000511413]	ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28	pathogenic\|uncertain significance
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2	copy number gain	See cases [RCV000511234]	ChrX:46326268..48801984 [GRCh37] ChrX:Xp11.3-11.23	likely pathogenic
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_003334.4(UBA1):c.2979C>T (p.Gly993=)	single nucleotide variant	Inborn genetic diseases [RCV002438371]\|Infantile-onset X-linked spinal muscular atrophy [RCV000535508]	ChrX:47214575 [GRCh38] ChrX:47073974 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.753A>G (p.Ser251=)	single nucleotide variant	Inborn genetic diseases [RCV002395599]\|Infantile-onset X-linked spinal muscular atrophy [RCV001462612]\|not provided [RCV000903837]	ChrX:47201552 [GRCh38] ChrX:47060951 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1048C>T (p.Arg350Cys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000640811]	ChrX:47202496 [GRCh38] ChrX:47061895 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.910-8C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000640820]	ChrX:47202350 [GRCh38] ChrX:47061749 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.132C>T (p.Asn44=)	single nucleotide variant	Inborn genetic diseases [RCV002384350]\|Infantile-onset X-linked spinal muscular atrophy [RCV000865082]\|not provided [RCV003437314]\|not specified [RCV000612237]	ChrX:47199062 [GRCh38] ChrX:47058461 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.411G>A (p.Glu137=)	single nucleotide variant	Inborn genetic diseases [RCV002325179]\|Infantile-onset X-linked spinal muscular atrophy [RCV002064325]\|not specified [RCV000612352]	ChrX:47199545 [GRCh38] ChrX:47058944 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.3123C>T (p.Asn1041=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000934507]\|not specified [RCV000615507]	ChrX:47214875 [GRCh38] ChrX:47074274 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.117+9C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000952110]\|not specified [RCV000616698]	ChrX:47198928 [GRCh38] ChrX:47058327 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.2622C>A (p.Asp874Glu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000640813]	ChrX:47212839 [GRCh38] ChrX:47072238 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.965A>G (p.Lys322Arg)	single nucleotide variant	Inborn genetic diseases [RCV002384139]\|Infantile-onset X-linked spinal muscular atrophy [RCV000528531]	ChrX:47202413 [GRCh38] ChrX:47061812 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.206G>A (p.Arg69Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000872075]\|not specified [RCV000611374]	ChrX:47199238 [GRCh38] ChrX:47058637 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.1233+13G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002065407]\|not specified [RCV000609019]	ChrX:47202827 [GRCh38] ChrX:47062226 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.1791G>A (p.Glu597=)	single nucleotide variant	Inborn genetic diseases [RCV002413725]\|Infantile-onset X-linked spinal muscular atrophy [RCV000918887]\|not specified [RCV000611684]	ChrX:47206297 [GRCh38] ChrX:47065696 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.480+19C>G	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002065417]\|not specified [RCV000603537]	ChrX:47199633 [GRCh38] ChrX:47059032 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.3006G>T (p.Met1002Ile)	single nucleotide variant	Inborn genetic diseases [RCV003266350]	ChrX:47214602 [GRCh38] ChrX:47074001 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.176+15G>A	single nucleotide variant	not specified [RCV000604635]	ChrX:47199121 [GRCh38] ChrX:47058520 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.960C>T (p.Phe320=)	single nucleotide variant	Inborn genetic diseases [RCV002385952]\|not specified [RCV000603602]	ChrX:47202408 [GRCh38] ChrX:47061807 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.819T>C (p.Tyr273=)	single nucleotide variant	Inborn genetic diseases [RCV002431786]\|not specified [RCV000607535]	ChrX:47202163 [GRCh38] ChrX:47061562 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2371C>T (p.Leu791=)	single nucleotide variant	Inborn genetic diseases [RCV002456121]\|Infantile-onset X-linked spinal muscular atrophy [RCV000546477]	ChrX:47211132 [GRCh38] ChrX:47070531 [GRCh37] ChrX:Xp11.3	likely benign
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_003334.4(UBA1):c.1353T>C (p.Tyr451=)	single nucleotide variant	Inborn genetic diseases [RCV002384331]\|Infantile-onset X-linked spinal muscular atrophy [RCV002063281]\|UBA1-related disorder [RCV003935667]\|not specified [RCV000605459]	ChrX:47203148 [GRCh38] ChrX:47062547 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.734G>A (p.Gly245Glu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000640810]	ChrX:47201533 [GRCh38] ChrX:47060932 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.574C>T (p.Arg192Trp)	single nucleotide variant	Inborn genetic diseases [RCV002343275]\|Infantile-onset X-linked spinal muscular atrophy [RCV000640812]\|not provided [RCV004692002]	ChrX:47200987 [GRCh38] ChrX:47060386 [GRCh37] ChrX:Xp11.3	benign\|likely benign\|uncertain significance
NM_003334.4(UBA1):c.210C>T (p.Leu70=)	single nucleotide variant	Inborn genetic diseases [RCV002420743]\|Infantile-onset X-linked spinal muscular atrophy [RCV000640819]	ChrX:47199242 [GRCh38] ChrX:47058641 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.346-3C>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000640824]\|not provided [RCV001637108]	ChrX:47199477 [GRCh38] ChrX:47058876 [GRCh37] ChrX:Xp11.3	benign
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_003334.4(UBA1):c.2830C>T (p.Arg944Cys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000662101]	ChrX:47213173 [GRCh38] ChrX:47072572 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1049G>A (p.Arg350His)	single nucleotide variant	Inborn genetic diseases [RCV002397453]\|Infantile-onset X-linked spinal muscular atrophy [RCV000701676]\|not provided [RCV001574157]	ChrX:47202497 [GRCh38] ChrX:47061896 [GRCh37] ChrX:Xp11.3	likely benign\|uncertain significance
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 Xp11.23(chrX:46647617-47413846)x2	copy number gain	not provided [RCV000684329]	ChrX:46647617..47413846 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_003334.4(UBA1):c.2452A>G (p.Asn818Asp)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000694636]	ChrX:47211213 [GRCh38] ChrX:47070612 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2540T>C (p.Ile847Thr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000696150]	ChrX:47212499 [GRCh38] ChrX:47071898 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1924G>C (p.Glu642Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000700440]	ChrX:47206430 [GRCh38] ChrX:47065829 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2474G>A (p.Arg825His)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000704064]	ChrX:47212433 [GRCh38] ChrX:47071832 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2626C>G (p.Pro876Ala)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000706706]	ChrX:47212843 [GRCh38] ChrX:47072242 [GRCh37] ChrX:Xp11.3	uncertain significance
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
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
NM_003334.4(UBA1):c.2839-121G>A	single nucleotide variant	not provided [RCV001566486]	ChrX:47214206 [GRCh38] ChrX:47073605 [GRCh37] ChrX:Xp11.3	likely benign
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] 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
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:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_003334.4(UBA1):c.1-258A>G	single nucleotide variant	not provided [RCV001724488]	ChrX:47198545 [GRCh38] ChrX:47057944 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.118-10C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000914059]	ChrX:47199038 [GRCh38] ChrX:47058437 [GRCh37] ChrX:Xp11.3	likely benign
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 Xp22.33-11.22(chrX:60814-50519984)x1	copy number loss	See cases [RCV000790583]	ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
NM_003334.4(UBA1):c.1939-11_1939-3del	deletion	Infantile-onset X-linked spinal muscular atrophy [RCV001046497]	ChrX:47209609..47209617 [GRCh38] ChrX:47069008..47069016 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1339C>T (p.Arg447Cys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001514130]	ChrX:47203134 [GRCh38] ChrX:47062533 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.453C>T (p.Leu151=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001469364]	ChrX:47199587 [GRCh38] ChrX:47058986 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.910-7G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001392299]	ChrX:47202351 [GRCh38] ChrX:47061750 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2376G>A (p.Gln792=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002544517]\|not provided [RCV000937055]\|not specified [RCV001726376]	ChrX:47211137 [GRCh38] ChrX:47070536 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.1851G>A (p.Ser617=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001394013]	ChrX:47206357 [GRCh38] ChrX:47065756 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2929G>A (p.Asp977Asn)	single nucleotide variant	Inborn genetic diseases [RCV002434151]\|Infantile-onset X-linked spinal muscular atrophy [RCV001510416]\|not provided [RCV000875704]	ChrX:47214417 [GRCh38] ChrX:47073816 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.39C>T (p.Ser13=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000973205]	ChrX:47198841 [GRCh38] ChrX:47058240 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2661A>G (p.Ala887=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001514997]	ChrX:47213004 [GRCh38] ChrX:47072403 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.687C>T (p.Pro229=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001467600]\|UBA1-related disorder [RCV003960424]	ChrX:47201486 [GRCh38] ChrX:47060885 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2368T>C (p.Phe790Leu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000929026]	ChrX:47211129 [GRCh38] ChrX:47070528 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.117+10C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001450293]	ChrX:47198929 [GRCh38] ChrX:47058328 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1149C>T (p.Ile383=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000876302]	ChrX:47202730 [GRCh38] ChrX:47062129 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.873C>T (p.Ile291=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000864858]\|not provided [RCV001709688]	ChrX:47202217 [GRCh38] ChrX:47061616 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.603C>T (p.Asp201=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002062257]	ChrX:47201291 [GRCh38] ChrX:47060690 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2359G>A (p.Val787Met)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001055975]	ChrX:47211120 [GRCh38] ChrX:47070519 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1710C>T (p.Gly570=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001058492]	ChrX:47206082 [GRCh38] ChrX:47065481 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.121A>G (p.Met41Val)	single nucleotide variant	Inborn genetic diseases [RCV002363560]\|Infantile-onset X-linked spinal muscular atrophy [RCV001038219]\|UBA1-related disorder [RCV003411963]\|VEXAS [RCV001261200]\|VEXAS syndrome [RCV001265106]\|not provided [RCV002255173]	ChrX:47199051 [GRCh38] ChrX:47058450 [GRCh37] ChrX:Xp11.3	pathogenic\|likely pathogenic\|uncertain significance
NM_003334.4(UBA1):c.2464+9_2464+16del	deletion	Infantile-onset X-linked spinal muscular atrophy [RCV001398402]	ChrX:47211234..47211241 [GRCh38] ChrX:47070633..47070640 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2982G>T (p.Val994=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000917050]\|UBA1-related disorder [RCV003950842]\|not provided [RCV003438587]	ChrX:47214578 [GRCh38] ChrX:47073977 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.1665C>T (p.Asp555=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002064710]\|not provided [RCV000872755]	ChrX:47206037 [GRCh38] ChrX:47065436 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.812-8C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001401067]	ChrX:47202148 [GRCh38] ChrX:47061547 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.852C>T (p.Ser284=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000877329]	ChrX:47202196 [GRCh38] ChrX:47061595 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2733G>A (p.Lys911=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000873345]	ChrX:47213076 [GRCh38] ChrX:47072475 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2640G>C (p.Arg880=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000918993]	ChrX:47212857 [GRCh38] ChrX:47072256 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2299G>A (p.Ala767Thr)	single nucleotide variant	Inborn genetic diseases [RCV002454019]\|Infantile-onset X-linked spinal muscular atrophy [RCV000872433]	ChrX:47211060 [GRCh38] ChrX:47070459 [GRCh37] ChrX:Xp11.3	likely benign\|uncertain significance
NM_003334.4(UBA1):c.1233+8C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000946223]	ChrX:47202822 [GRCh38] ChrX:47062221 [GRCh37] ChrX:Xp11.3	likely benign
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622)	copy number gain	not provided [RCV000767648]	ChrX:43507300..48929622 [GRCh37] ChrX:Xp11.3-11.23	pathogenic
NM_003334.4(UBA1):c.2987T>A (p.Met996Lys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000815622]	ChrX:47214583 [GRCh38] ChrX:47073982 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1419+92C>T	single nucleotide variant	not provided [RCV000839285]	ChrX:47203306 [GRCh38] ChrX:47062705 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1575+24C>G	single nucleotide variant	not provided [RCV000832103]	ChrX:47203720 [GRCh38] ChrX:47063119 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.246C>T (p.Gly82=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003509615]\|not provided [RCV000841815]	ChrX:47199278 [GRCh38] ChrX:47058677 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1117G>A (p.Val373Met)	single nucleotide variant	Inborn genetic diseases [RCV003258981]\|Infantile-onset X-linked spinal muscular atrophy [RCV000806516]\|not provided [RCV000999410]	ChrX:47202698 [GRCh38] ChrX:47062097 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1013A>G (p.Gln338Arg)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000797881]	ChrX:47202461 [GRCh38] ChrX:47061860 [GRCh37] ChrX:Xp11.3	uncertain significance
Single allele	deletion	Neurodevelopmental disorder [RCV000787440]	ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
NM_003334.4(UBA1):c.1033C>T (p.Arg345Trp)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000797702]	ChrX:47202481 [GRCh38] ChrX:47061880 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2328C>T (p.Tyr776=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001084914]\|not provided [RCV000840035]	ChrX:47211089 [GRCh38] ChrX:47070488 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.1173T>C (p.Ala391=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001513612]	ChrX:47202754 [GRCh38] ChrX:47062153 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.679-33C>G	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002245698]\|not provided [RCV000829408]\|not specified [RCV003489921]	ChrX:47201445 [GRCh38] ChrX:47060844 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.1576-161G>A	single nucleotide variant	not provided [RCV000829409]	ChrX:47205787 [GRCh38] ChrX:47065186 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2750G>T (p.Arg917Leu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000805242]	ChrX:47213093 [GRCh38] ChrX:47072492 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1469T>C (p.Ile490Thr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000811668]	ChrX:47203590 [GRCh38] ChrX:47062989 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.147C>T (p.Asp49=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001408250]	ChrX:47199077 [GRCh38] ChrX:47058476 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.3127G>A (p.Glu1043Lys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000792171]	ChrX:47214879 [GRCh38] ChrX:47074278 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1742-58C>T	single nucleotide variant	not provided [RCV000833761]	ChrX:47206190 [GRCh38] ChrX:47065589 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.1938+60G>A	single nucleotide variant	not provided [RCV000833762]	ChrX:47206504 [GRCh38] ChrX:47065903 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2838+110C>T	single nucleotide variant	not provided [RCV000833776]	ChrX:47213291 [GRCh38] ChrX:47072690 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2839-75A>G	single nucleotide variant	not provided [RCV000833777]	ChrX:47214252 [GRCh38] ChrX:47073651 [GRCh37] ChrX:Xp11.3	benign
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
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_003334.4(UBA1):c.1318A>C (p.Thr440Pro)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000817123]	ChrX:47203027 [GRCh38] ChrX:47062426 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.613G>A (p.Glu205Lys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001169076]	ChrX:47201301 [GRCh38] ChrX:47060700 [GRCh37] ChrX:Xp11.3	uncertain significance
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_003334.4(UBA1):c.1034G>A (p.Arg345Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001166162]	ChrX:47202482 [GRCh38] ChrX:47061881 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.811+212A>G	single nucleotide variant	not provided [RCV000833759]	ChrX:47201822 [GRCh38] ChrX:47061221 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.1233+43T>G	single nucleotide variant	not provided [RCV000833760]	ChrX:47202857 [GRCh38] ChrX:47062256 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2004-39C>G	single nucleotide variant	not provided [RCV000833775]	ChrX:47209889 [GRCh38] ChrX:47069288 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.1151G>A (p.Arg384Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000802456]	ChrX:47202732 [GRCh38] ChrX:47062131 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1730A>G (p.Asn577Ser)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000819019]	ChrX:47206102 [GRCh38] ChrX:47065501 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.330T>G (p.Ala110=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000980235]	ChrX:47199362 [GRCh38] ChrX:47058761 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.559G>T (p.Val187Leu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000815998]	ChrX:47200972 [GRCh38] ChrX:47060371 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1775G>A (p.Arg592Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000816186]	ChrX:47206281 [GRCh38] ChrX:47065680 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2270A>G (p.Asn757Ser)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000802942]	ChrX:47210912 [GRCh38] ChrX:47070311 [GRCh37] ChrX:Xp11.3	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
NM_003334.4(UBA1):c.2554-8C>T	single nucleotide variant	not provided [RCV000918005]	ChrX:47212763 [GRCh38] ChrX:47072162 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1197C>T (p.Ala399=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002550533]	ChrX:47202778 [GRCh38] ChrX:47062177 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.910-9C>G	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000804674]\|not provided [RCV004693312]	ChrX:47202349 [GRCh38] ChrX:47061748 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1052A>G (p.Asn351Ser)	single nucleotide variant	Inborn genetic diseases [RCV002538097]\|Infantile-onset X-linked spinal muscular atrophy [RCV000811412]	ChrX:47202500 [GRCh38] ChrX:47061899 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2584A>G (p.Ile862Val)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000813530]	ChrX:47212801 [GRCh38] ChrX:47072200 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1356C>T (p.Asp452=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000875377]	ChrX:47203151 [GRCh38] ChrX:47062550 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.106G>A (p.Val36Met)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000793002]	ChrX:47198908 [GRCh38] ChrX:47058307 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.105G>A (p.Ser35=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001169075]	ChrX:47198907 [GRCh38] ChrX:47058306 [GRCh37] ChrX:Xp11.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_003334.4(UBA1):c.2275-7C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001514263]	ChrX:47211029 [GRCh38] ChrX:47070428 [GRCh37] ChrX:Xp11.3	benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	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_003334.4(UBA1):c.1420-146C>T	single nucleotide variant	not provided [RCV001571475]	ChrX:47203395 [GRCh38] ChrX:47062794 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.954G>A (p.Thr318=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001208937]	ChrX:47202402 [GRCh38] ChrX:47061801 [GRCh37] ChrX:Xp11.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_003334.4(UBA1):c.499A>G (p.Thr167Ala)	single nucleotide variant	Inborn genetic diseases [RCV002562526]\|Infantile-onset X-linked spinal muscular atrophy [RCV001221460]	ChrX:47200912 [GRCh38] ChrX:47060311 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1103G>A (p.Arg368Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001207231]	ChrX:47202684 [GRCh38] ChrX:47062083 [GRCh37] ChrX:Xp11.3	benign\|uncertain significance
NM_003334.4(UBA1):c.1432G>T (p.Ala478Ser)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003621696]\|not provided [RCV003312767]	ChrX:47203553 [GRCh38] ChrX:47062952 [GRCh37] ChrX:Xp11.3	pathogenic\|uncertain significance
NM_003334.4(UBA1):c.632C>G (p.Ser211Cys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001211489]	ChrX:47201320 [GRCh38] ChrX:47060719 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2653C>A (p.Leu885Met)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001201604]	ChrX:47212996 [GRCh38] ChrX:47072395 [GRCh37] ChrX:Xp11.3	uncertain significance
NC_000023.10:g.(?_47001716)_(50659607_?)dup	duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003122411]\|Neurodegeneration with brain iron accumulation 5 [RCV003105408]\|SLC35A2-congenital disorder of glycosylation [RCV003122412]	ChrX:47001716..50659607 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
NM_003334.4(UBA1):c.1938+164C>T	single nucleotide variant	not provided [RCV001575262]	ChrX:47206608 [GRCh38] ChrX:47066007 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.480+271C>G	single nucleotide variant	not provided [RCV001638367]	ChrX:47199885 [GRCh38] ChrX:47059284 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.480+165C>T	single nucleotide variant	not provided [RCV001557676]	ChrX:47199779 [GRCh38] ChrX:47059178 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2200-123G>T	single nucleotide variant	not provided [RCV001557740]	ChrX:47210719 [GRCh38] ChrX:47070118 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2839-103A>G	single nucleotide variant	not provided [RCV001557782]	ChrX:47214224 [GRCh38] ChrX:47073623 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1939-82C>T	single nucleotide variant	not provided [RCV001563026]	ChrX:47209541 [GRCh38] ChrX:47068940 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.798G>A (p.Glu266=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001514362]\|not provided [RCV003438623]	ChrX:47201597 [GRCh38] ChrX:47060996 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.2309A>G (p.Asn770Ser)	single nucleotide variant	not provided [RCV000955070]	ChrX:47211070 [GRCh38] ChrX:47070469 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.369C>T (p.Ile123=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001481900]	ChrX:47199503 [GRCh38] ChrX:47058902 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.465C>T (p.Phe155=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003509625]	ChrX:47199599 [GRCh38] ChrX:47058998 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1569T>C (p.Asp523=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000940837]	ChrX:47203690 [GRCh38] ChrX:47063089 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1077A>C (p.Val359=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000952378]	ChrX:47202658 [GRCh38] ChrX:47062057 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1243G>A (p.Gly415Arg)	single nucleotide variant	Inborn genetic diseases [RCV002382109]\|Infantile-onset X-linked spinal muscular atrophy [RCV000931121]	ChrX:47202952 [GRCh38] ChrX:47062351 [GRCh37] ChrX:Xp11.3	benign\|uncertain significance
NM_003334.4(UBA1):c.2256C>T (p.Leu752=)	single nucleotide variant	not provided [RCV000906070]	ChrX:47210898 [GRCh38] ChrX:47070297 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.486G>A (p.Val162=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001512148]	ChrX:47200899 [GRCh38] ChrX:47060298 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.540C>T (p.His180=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001426157]	ChrX:47200953 [GRCh38] ChrX:47060352 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.84C>T (p.Ser28=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002066344]\|UBA1-related disorder [RCV003935841]	ChrX:47198886 [GRCh38] ChrX:47058285 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1482C>T (p.Cys494=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000910797]\|not provided [RCV003438581]	ChrX:47203603 [GRCh38] ChrX:47063002 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.1047C>T (p.Pro349=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001478674]	ChrX:47202495 [GRCh38] ChrX:47061894 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.648A>G (p.Pro216=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000872012]\|UBA1-related disorder [RCV003948180]\|not provided [RCV001709691]	ChrX:47201336 [GRCh38] ChrX:47060735 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.360G>A (p.Glu120=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000876977]	ChrX:47199494 [GRCh38] ChrX:47058893 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2361G>A (p.Val787=)	single nucleotide variant	not provided [RCV000924848]	ChrX:47211122 [GRCh38] ChrX:47070521 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2504G>A (p.Ser835Asn)	single nucleotide variant	Inborn genetic diseases [RCV002451516]\|Infantile-onset X-linked spinal muscular atrophy [RCV001222437]	ChrX:47212463 [GRCh38] ChrX:47071862 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.500C>T (p.Thr167Ile)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001222979]	ChrX:47200913 [GRCh38] ChrX:47060312 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.122T>C (p.Met41Thr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001239702]\|UBA1-related disorder [RCV003405435]\|VEXAS [RCV001261202]\|VEXAS syndrome [RCV001265107]\|not provided [RCV001702587]	ChrX:47199052 [GRCh38] ChrX:47058451 [GRCh37] ChrX:Xp11.3	pathogenic\|likely pathogenic\|uncertain significance
NM_003334.4(UBA1):c.1027C>T (p.His343Tyr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001197277]	ChrX:47202475 [GRCh38] ChrX:47061874 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.406G>T (p.Ala136Ser)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001227969]	ChrX:47199540 [GRCh38] ChrX:47058939 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2688G>A (p.Thr896=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001493952]	ChrX:47213031 [GRCh38] ChrX:47072430 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1194C>T (p.Asn398=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV000913281]	ChrX:47202775 [GRCh38] ChrX:47062174 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.108G>A (p.Val36=)	single nucleotide variant	not provided [RCV000912589]	ChrX:47198910 [GRCh38] ChrX:47058309 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1929C>T (p.His643=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001469333]	ChrX:47206435 [GRCh38] ChrX:47065834 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1400G>A (p.Gly467Asp)	single nucleotide variant	Inborn genetic diseases [RCV002390962]\|Infantile-onset X-linked spinal muscular atrophy [RCV000935537]	ChrX:47203195 [GRCh38] ChrX:47062594 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.167C>T (p.Ser56Phe)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002539756]\|VEXAS syndrome [RCV001726682]	ChrX:47199097 [GRCh38] ChrX:47058496 [GRCh37] ChrX:Xp11.3	pathogenic\|uncertain significance
NM_003334.4(UBA1):c.1575+51C>T	single nucleotide variant	not provided [RCV001719428]	ChrX:47203747 [GRCh38] ChrX:47063146 [GRCh37] ChrX:Xp11.3	benign
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_003334.4(UBA1):c.2200-196G>T	single nucleotide variant	not provided [RCV001561442]	ChrX:47210646 [GRCh38] ChrX:47070045 [GRCh37] ChrX:Xp11.3	likely benign
GRCh37/hg19 Xp11.23(chrX:46780978-47184052)x3	copy number gain	not provided [RCV002473734]	ChrX:46780978..47184052 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_003334.4(UBA1):c.1575+68dup	duplication	not provided [RCV001723055]	ChrX:47203747..47203748 [GRCh38] ChrX:47063146..47063147 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.480+313C>G	single nucleotide variant	not provided [RCV001596405]	ChrX:47199927 [GRCh38] ChrX:47059326 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1575+67_1575+68dup	duplication	not provided [RCV001617497]	ChrX:47203747..47203748 [GRCh38] ChrX:47063146..47063147 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.811+189G>A	single nucleotide variant	not provided [RCV001596443]	ChrX:47201799 [GRCh38] ChrX:47061198 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.3068C>T (p.Ser1023Leu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001034378]	ChrX:47214820 [GRCh38] ChrX:47074219 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2004-12G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001168396]\|not provided [RCV001655693]	ChrX:47209916 [GRCh38] ChrX:47069315 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.2839-3C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001169149]	ChrX:47214324 [GRCh38] ChrX:47073723 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2878G>T (p.Val960Leu)	single nucleotide variant	Inborn genetic diseases [RCV002436679]\|Infantile-onset X-linked spinal muscular atrophy [RCV001069618]	ChrX:47214366 [GRCh38] ChrX:47073765 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2059G>A (p.Val687Met)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001049813]	ChrX:47209983 [GRCh38] ChrX:47069382 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1131C>G (p.Asn377Lys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001069758]	ChrX:47202712 [GRCh38] ChrX:47062111 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.859A>G (p.Ile287Val)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001048239]	ChrX:47202203 [GRCh38] ChrX:47061602 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2465-190T>A	single nucleotide variant	not provided [RCV001609497]	ChrX:47212234 [GRCh38] ChrX:47071633 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.1673G>A (p.Arg558His)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001203682]	ChrX:47206045 [GRCh38] ChrX:47065444 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.683A>G (p.Asn228Ser)	single nucleotide variant	Inborn genetic diseases [RCV002365971]\|Infantile-onset X-linked spinal muscular atrophy [RCV001215817]	ChrX:47201482 [GRCh38] ChrX:47060881 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.904A>G (p.Ser302Gly)	single nucleotide variant	Inborn genetic diseases [RCV003166553]\|Infantile-onset X-linked spinal muscular atrophy [RCV001247150]\|not provided [RCV001566843]	ChrX:47202248 [GRCh38] ChrX:47061647 [GRCh37] ChrX:Xp11.3	likely benign\|uncertain significance
NM_003334.4(UBA1):c.977C>T (p.Pro326Leu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001057275]	ChrX:47202425 [GRCh38] ChrX:47061824 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1631G>A (p.Arg544Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001215799]	ChrX:47206003 [GRCh38] ChrX:47065402 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1189A>G (p.Ile397Val)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001207174]	ChrX:47202770 [GRCh38] ChrX:47062169 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1115C>T (p.Ala372Val)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001232670]	ChrX:47202696 [GRCh38] ChrX:47062095 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1630C>T (p.Arg544Trp)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001198623]\|not specified [RCV003994231]	ChrX:47206002 [GRCh38] ChrX:47065401 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2646+11T>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001168397]	ChrX:47212874 [GRCh38] ChrX:47072273 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.1313T>G (p.Val438Gly)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001055665]	ChrX:47203022 [GRCh38] ChrX:47062421 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.-45C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001169074]	ChrX:47193980 [GRCh38] ChrX:47053379 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.97G>A (p.Val33Met)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001056969]	ChrX:47198899 [GRCh38] ChrX:47058298 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1683T>C (p.Asp561=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001166656]	ChrX:47206055 [GRCh38] ChrX:47065454 [GRCh37] ChrX:Xp11.3	conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 Xp11.23(chrX:46942052-47379255)x3	copy number gain	not provided [RCV001258952]	ChrX:46942052..47379255 [GRCh37] ChrX:Xp11.23	uncertain significance
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_003334.4(UBA1):c.2252C>T (p.Pro751Leu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001312952]	ChrX:47210894 [GRCh38] ChrX:47070293 [GRCh37] ChrX:Xp11.3	uncertain significance
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
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
NM_003334.4(UBA1):c.121A>C (p.Met41Leu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001366437]\|VEXAS [RCV001261201]\|VEXAS syndrome [RCV001265108]\|not provided [RCV001815527]	ChrX:47199051 [GRCh38] ChrX:47058450 [GRCh37] ChrX:Xp11.3	pathogenic\|likely pathogenic\|uncertain significance
NM_003334.4(UBA1):c.863G>A (p.Arg288His)	single nucleotide variant	Inborn genetic diseases [RCV002377417]\|Infantile-onset X-linked spinal muscular atrophy [RCV001325437]	ChrX:47202207 [GRCh38] ChrX:47061606 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1292G>C (p.Cys431Ser)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001339905]	ChrX:47203001 [GRCh38] ChrX:47062400 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.575G>A (p.Arg192Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001296725]	ChrX:47200988 [GRCh38] ChrX:47060387 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2239C>T (p.Arg747Cys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001334132]	ChrX:47210881 [GRCh38] ChrX:47070280 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.3173G>A (p.Arg1058His)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001374013]	ChrX:47214925 [GRCh38] ChrX:47074324 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1533A>G (p.Ser511=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001394727]	ChrX:47203654 [GRCh38] ChrX:47063053 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2554-6T>C	single nucleotide variant	Inborn genetic diseases [RCV002432147]\|Infantile-onset X-linked spinal muscular atrophy [RCV001414428]	ChrX:47212765 [GRCh38] ChrX:47072164 [GRCh37] ChrX:Xp11.3	likely benign\|uncertain significance
NM_003334.4(UBA1):c.2889G>T (p.Leu963=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001422301]	ChrX:47214377 [GRCh38] ChrX:47073776 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2824G>A (p.Ala942Thr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001369650]	ChrX:47213167 [GRCh38] ChrX:47072566 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.588-7T>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001422502]	ChrX:47201269 [GRCh38] ChrX:47060668 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.436G>A (p.Ala146Thr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001351762]	ChrX:47199570 [GRCh38] ChrX:47058969 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.3170T>G (p.Ile1057Ser)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001346477]	ChrX:47214922 [GRCh38] ChrX:47074321 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1115C>A (p.Ala372Glu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001338582]	ChrX:47202696 [GRCh38] ChrX:47062095 [GRCh37] ChrX:Xp11.3	uncertain significance
NC_000023.10:g.(?_46696536)_(47436910_?)dup	duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV001309817]	ChrX:46696536..47436910 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_003334.4(UBA1):c.733G>A (p.Gly245Arg)	single nucleotide variant	Inborn genetic diseases [RCV002384356]\|Infantile-onset X-linked spinal muscular atrophy [RCV001300608]\|not provided [RCV004692442]	ChrX:47201532 [GRCh38] ChrX:47060931 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1014G>C (p.Gln338His)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001350116]	ChrX:47202462 [GRCh38] ChrX:47061861 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1147A>T (p.Ile383Phe)	single nucleotide variant	Inborn genetic diseases [RCV002456559]\|Infantile-onset X-linked spinal muscular atrophy [RCV001363701]	ChrX:47202728 [GRCh38] ChrX:47062127 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.746C>T (p.Ser249Phe)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001321247]	ChrX:47201545 [GRCh38] ChrX:47060944 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.195G>C (p.Glu65Asp)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001344606]	ChrX:47199227 [GRCh38] ChrX:47058626 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2933A>G (p.Tyr978Cys)	single nucleotide variant	Inborn genetic diseases [RCV002438711]\|Infantile-onset X-linked spinal muscular atrophy [RCV001315972]	ChrX:47214421 [GRCh38] ChrX:47073820 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.793A>G (p.Met265Val)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001325489]	ChrX:47201592 [GRCh38] ChrX:47060991 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2106C>G (p.Thr702=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001350545]	ChrX:47210030 [GRCh38] ChrX:47069429 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2412C>T (p.Gly804=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001421841]\|not provided [RCV003438787]	ChrX:47211173 [GRCh38] ChrX:47070572 [GRCh37] ChrX:Xp11.3	likely benign
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_003334.4(UBA1):c.241C>T (p.Arg81Trp)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001304077]	ChrX:47199273 [GRCh38] ChrX:47058672 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2843A>G (p.Tyr948Cys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001306843]	ChrX:47214331 [GRCh38] ChrX:47073730 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.94G>A (p.Glu32Lys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001514718]	ChrX:47198896 [GRCh38] ChrX:47058295 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.1339-9A>G	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001514749]	ChrX:47203125 [GRCh38] ChrX:47062524 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2449G>A (p.Ala817Thr)	single nucleotide variant	Inborn genetic diseases [RCV002568027]\|Infantile-onset X-linked spinal muscular atrophy [RCV001514844]\|UBA1-related disorder [RCV003956159]	ChrX:47211210 [GRCh38] ChrX:47070609 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.1152G>A (p.Arg384=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001523373]	ChrX:47202733 [GRCh38] ChrX:47062132 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2130C>A (p.Ala710=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001425925]	ChrX:47210054 [GRCh38] ChrX:47069453 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2202C>A (p.Leu734=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001418372]	ChrX:47210844 [GRCh38] ChrX:47070243 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.3138G>A (p.Glu1046=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001465618]	ChrX:47214890 [GRCh38] ChrX:47074289 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1038A>G (p.Pro346=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001463392]	ChrX:47202486 [GRCh38] ChrX:47061885 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.840C>T (p.Thr280=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001393622]	ChrX:47202184 [GRCh38] ChrX:47061583 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.253G>A (p.Val85Met)	single nucleotide variant	Inborn genetic diseases [RCV002458500]\|Infantile-onset X-linked spinal muscular atrophy [RCV001519018]\|not provided [RCV003438857]	ChrX:47199285 [GRCh38] ChrX:47058684 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.2725C>T (p.Leu909=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001505262]	ChrX:47213068 [GRCh38] ChrX:47072467 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.303A>G (p.Leu101=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001399220]	ChrX:47199335 [GRCh38] ChrX:47058734 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2763C>G (p.Ser921=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001432887]	ChrX:47213106 [GRCh38] ChrX:47072505 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2586C>T (p.Ile862=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001415707]	ChrX:47212803 [GRCh38] ChrX:47072202 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1234-9C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001405024]	ChrX:47202934 [GRCh38] ChrX:47062333 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2647-9_2647-6del	deletion	Inborn genetic diseases [RCV002432244]\|Infantile-onset X-linked spinal muscular atrophy [RCV001447563]	ChrX:47212978..47212981 [GRCh38] ChrX:47072377..47072380 [GRCh37] ChrX:Xp11.3	likely benign\|uncertain significance
NM_003334.4(UBA1):c.334C>T (p.Leu112Phe)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001411000]	ChrX:47199366 [GRCh38] ChrX:47058765 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1758C>T (p.Arg586=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001400322]\|not provided [RCV003438764]	ChrX:47206264 [GRCh38] ChrX:47065663 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2595A>T (p.Ala865=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001440435]	ChrX:47212812 [GRCh38] ChrX:47072211 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2778C>T (p.Phe926=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001428475]	ChrX:47213121 [GRCh38] ChrX:47072520 [GRCh37] ChrX:Xp11.3	likely 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_003334.4(UBA1):c.346-10A>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001448388]	ChrX:47199470 [GRCh38] ChrX:47058869 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2424T>C (p.His808=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001443378]	ChrX:47211185 [GRCh38] ChrX:47070584 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2136C>T (p.His712=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001458865]	ChrX:47210060 [GRCh38] ChrX:47069459 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.231A>G (p.Val77=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001462938]	ChrX:47199263 [GRCh38] ChrX:47058662 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1097A>C (p.Asn366Thr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001522361]	ChrX:47202678 [GRCh38] ChrX:47062077 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.1041T>A (p.Pro347=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001487849]	ChrX:47202489 [GRCh38] ChrX:47061888 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2118C>T (p.Cys706=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001522934]	ChrX:47210042 [GRCh38] ChrX:47069441 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.663T>A (p.Val221=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001502486]	ChrX:47201351 [GRCh38] ChrX:47060750 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1377C>T (p.Gly459=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001480246]	ChrX:47203172 [GRCh38] ChrX:47062571 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2742G>C (p.Gln914His)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001510796]	ChrX:47213085 [GRCh38] ChrX:47072484 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2724G>A (p.Glu908=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001514815]	ChrX:47213067 [GRCh38] ChrX:47072466 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2831G>A (p.Arg944His)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001440613]	ChrX:47213174 [GRCh38] ChrX:47072573 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1818T>C (p.Asn606=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001514539]\|UBA1-related disorder [RCV003983931]	ChrX:47206324 [GRCh38] ChrX:47065723 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.384C>G (p.Ala128=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001418560]	ChrX:47199518 [GRCh38] ChrX:47058917 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.93C>T (p.Ser31=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001393739]	ChrX:47198895 [GRCh38] ChrX:47058294 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.573G>A (p.Thr191=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001450358]	ChrX:47200986 [GRCh38] ChrX:47060385 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2187C>T (p.Phe729=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001424615]	ChrX:47210111 [GRCh38] ChrX:47069510 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1328A>G (p.Lys443Arg)	single nucleotide variant	Inborn genetic diseases [RCV002384862]\|Infantile-onset X-linked spinal muscular atrophy [RCV001516056]	ChrX:47203037 [GRCh38] ChrX:47062436 [GRCh37] ChrX:Xp11.3	benign\|uncertain significance
NM_003334.4(UBA1):c.3135C>A (p.Gly1045=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001424935]	ChrX:47214887 [GRCh38] ChrX:47074286 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.991A>G (p.Ile331Val)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003107138]	ChrX:47202439 [GRCh38] ChrX:47061838 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.118-1G>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003771873]\|VEXAS syndrome [RCV001726683]	ChrX:47199047 [GRCh38] ChrX:47058446 [GRCh37] ChrX:Xp11.3	pathogenic\|uncertain significance
NM_003334.4(UBA1):c.1171G>A (p.Ala391Thr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001868761]\|not provided [RCV001755621]	ChrX:47202752 [GRCh38] ChrX:47062151 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.606T>G (p.Phe202Leu)	single nucleotide variant	not provided [RCV001776312]	ChrX:47201294 [GRCh38] ChrX:47060693 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.3085C>T (p.Arg1029Cys)	single nucleotide variant	not provided [RCV001786992]	ChrX:47214837 [GRCh38] ChrX:47074236 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1660C>T (p.Pro554Ser)	single nucleotide variant	not provided [RCV001753319]	ChrX:47206032 [GRCh38] ChrX:47065431 [GRCh37] ChrX:Xp11.3	likely pathogenic
NM_003334.4(UBA1):c.3103G>A (p.Val1035Met)	single nucleotide variant	not provided [RCV001753119]	ChrX:47214855 [GRCh38] ChrX:47074254 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.804A>T (p.Lys268Asn)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002482286]\|Infantile-onset X-linked spinal muscular atrophy [RCV003621608]\|not provided [RCV001753380]	ChrX:47201603 [GRCh38] ChrX:47061002 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1687G>T (p.Asp563Tyr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002540691]\|not provided [RCV001768415]	ChrX:47206059 [GRCh38] ChrX:47065458 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1028A>G (p.His343Arg)	single nucleotide variant	not provided [RCV001757588]	ChrX:47202476 [GRCh38] ChrX:47061875 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.377A>G (p.Asn126Ser)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001949847]	ChrX:47199511 [GRCh38] ChrX:47058910 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.85G>A (p.Val29Met)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001892624]	ChrX:47198887 [GRCh38] ChrX:47058286 [GRCh37] ChrX:Xp11.3	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
NM_003334.4(UBA1):c.2842T>G (p.Tyr948Asp)	single nucleotide variant	Inborn genetic diseases [RCV002441204]\|Infantile-onset X-linked spinal muscular atrophy [RCV002040387]	ChrX:47214330 [GRCh38] ChrX:47073729 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.683A>C (p.Asn228Thr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001985809]	ChrX:47201482 [GRCh38] ChrX:47060881 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln)	single nucleotide variant	Inborn genetic diseases [RCV002335023]\|Infantile-onset X-linked spinal muscular atrophy [RCV002001704]\|Infantile-onset X-linked spinal muscular atrophy [RCV002479695]	ChrX:47200934 [GRCh38] ChrX:47060333 [GRCh37] ChrX:Xp11.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_003334.4(UBA1):c.2893C>G (p.Pro965Ala)	single nucleotide variant	Inborn genetic diseases [RCV002441096]\|Infantile-onset X-linked spinal muscular atrophy [RCV002002167]	ChrX:47214381 [GRCh38] ChrX:47073780 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1617G>A (p.Met539Ile)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002003755]	ChrX:47205989 [GRCh38] ChrX:47065388 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2567A>G (p.Asn856Ser)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001892327]	ChrX:47212784 [GRCh38] ChrX:47072183 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.34G>T (p.Val12Leu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001984860]	ChrX:47198836 [GRCh38] ChrX:47058235 [GRCh37] ChrX:Xp11.3	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_003334.4(UBA1):c.118-11_118-3del	deletion	Infantile-onset X-linked spinal muscular atrophy [RCV002039781]	ChrX:47199037..47199045 [GRCh38] ChrX:47058436..47058444 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.598T>G (p.Cys200Gly)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001992886]	ChrX:47201286 [GRCh38] ChrX:47060685 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2754G>C (p.Gln918His)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001959882]	ChrX:47213097 [GRCh38] ChrX:47072496 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.118-2A>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001962623]	ChrX:47199046 [GRCh38] ChrX:47058445 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.781G>A (p.Gly261Arg)	single nucleotide variant	Inborn genetic diseases [RCV002407071]\|Infantile-onset X-linked spinal muscular atrophy [RCV001930679]	ChrX:47201580 [GRCh38] ChrX:47060979 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1765G>A (p.Val589Ile)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001973997]	ChrX:47206271 [GRCh38] ChrX:47065670 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.3008C>T (p.Pro1003Leu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001897964]	ChrX:47214604 [GRCh38] ChrX:47074003 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1094T>C (p.Val365Ala)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002010622]	ChrX:47202675 [GRCh38] ChrX:47062074 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.356G>A (p.Arg119Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002013455]	ChrX:47199490 [GRCh38] ChrX:47058889 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1114G>A (p.Ala372Thr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001898654]	ChrX:47202695 [GRCh38] ChrX:47062094 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.874G>A (p.Val292Ile)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002034896]	ChrX:47202218 [GRCh38] ChrX:47061617 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2094G>T (p.Gln698His)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001999504]	ChrX:47210018 [GRCh38] ChrX:47069417 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.370G>A (p.Gly124Ser)	single nucleotide variant	Inborn genetic diseases [RCV002554210]\|Infantile-onset X-linked spinal muscular atrophy [RCV001901072]	ChrX:47199504 [GRCh38] ChrX:47058903 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1011C>G (p.His337Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001955037]	ChrX:47202459 [GRCh38] ChrX:47061858 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1226T>C (p.Val409Ala)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002050372]	ChrX:47202807 [GRCh38] ChrX:47062206 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1054G>A (p.Glu352Lys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001979475]	ChrX:47202502 [GRCh38] ChrX:47061901 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.587+3G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001905201]	ChrX:47201003 [GRCh38] ChrX:47060402 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1516G>A (p.Asp506Asn)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001981230]	ChrX:47203637 [GRCh38] ChrX:47063036 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1953G>C (p.Glu651Asp)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001882367]	ChrX:47209637 [GRCh38] ChrX:47069036 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.3133G>A (p.Gly1045Ser)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001937016]	ChrX:47214885 [GRCh38] ChrX:47074284 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1629C>G (p.Ile543Met)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001881440]	ChrX:47206001 [GRCh38] ChrX:47065400 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2869C>T (p.Arg957Cys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001934531]	ChrX:47214357 [GRCh38] ChrX:47073756 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.242G>A (p.Arg81Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001979353]	ChrX:47199274 [GRCh38] ChrX:47058673 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.31C>T (p.Arg11Cys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV001957186]	ChrX:47198833 [GRCh38] ChrX:47058232 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2292T>C (p.Tyr764=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002208343]	ChrX:47211053 [GRCh38] ChrX:47070452 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2838+17G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002106225]	ChrX:47213198 [GRCh38] ChrX:47072597 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.117+16G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002124778]	ChrX:47198935 [GRCh38] ChrX:47058334 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.678+18A>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002186799]	ChrX:47201384 [GRCh38] ChrX:47060783 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.3060C>T (p.Ser1020=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002091274]	ChrX:47214812 [GRCh38] ChrX:47074211 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1156C>T (p.Leu386=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002075180]\|UBA1-related disorder [RCV003950988]	ChrX:47202737 [GRCh38] ChrX:47062136 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1875T>C (p.Pro625=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002110136]	ChrX:47206381 [GRCh38] ChrX:47065780 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2793G>T (p.Leu931=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002129835]	ChrX:47213136 [GRCh38] ChrX:47072535 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.1576-19C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002148821]	ChrX:47205929 [GRCh38] ChrX:47065328 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2913C>T (p.Thr971=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002185016]	ChrX:47214401 [GRCh38] ChrX:47073800 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.1420-18T>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002105796]	ChrX:47203523 [GRCh38] ChrX:47062922 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2391C>T (p.Pro797=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002207759]	ChrX:47211152 [GRCh38] ChrX:47070551 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.501C>T (p.Thr167=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002084799]	ChrX:47200914 [GRCh38] ChrX:47060313 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1485G>A (p.Gly495=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002087125]	ChrX:47203606 [GRCh38] ChrX:47063005 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2453A>G (p.Asn818Ser)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002191126]	ChrX:47211214 [GRCh38] ChrX:47070613 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2813A>G (p.Glu938Gly)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002107686]	ChrX:47213156 [GRCh38] ChrX:47072555 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1281T>C (p.Asp427=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002170295]	ChrX:47202990 [GRCh38] ChrX:47062389 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1420-18T>G	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002093245]	ChrX:47203523 [GRCh38] ChrX:47062922 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1576-20G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002078912]	ChrX:47205928 [GRCh38] ChrX:47065327 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1610G>A (p.Arg537His)	single nucleotide variant	Inborn genetic diseases [RCV002391261]\|Infantile-onset X-linked spinal muscular atrophy [RCV002132132]	ChrX:47205982 [GRCh38] ChrX:47065381 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.2646+11T>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002080689]	ChrX:47212874 [GRCh38] ChrX:47072273 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2745G>T (p.Gly915=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002195962]	ChrX:47213088 [GRCh38] ChrX:47072487 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.3132C>T (p.Ser1044=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002206374]	ChrX:47214884 [GRCh38] ChrX:47074283 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.811+18G>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002173663]	ChrX:47201628 [GRCh38] ChrX:47061027 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2949C>T (p.His983=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002130842]	ChrX:47214545 [GRCh38] ChrX:47073944 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1800A>G (p.Thr600=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002150058]	ChrX:47206306 [GRCh38] ChrX:47065705 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.117+15C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002153434]	ChrX:47198934 [GRCh38] ChrX:47058333 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2940+4A>G	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002080665]	ChrX:47214432 [GRCh38] ChrX:47073831 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.176+13A>G	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002197717]	ChrX:47199119 [GRCh38] ChrX:47058518 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2460T>C (p.Ser820=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002117964]	ChrX:47211221 [GRCh38] ChrX:47070620 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2465-17T>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002154883]	ChrX:47212407 [GRCh38] ChrX:47071806 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2124C>T (p.Thr708=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002158530]	ChrX:47210048 [GRCh38] ChrX:47069447 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.177-11del	deletion	Infantile-onset X-linked spinal muscular atrophy [RCV002136803]	ChrX:47199198 [GRCh38] ChrX:47058597 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.679-16C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002123028]	ChrX:47201462 [GRCh38] ChrX:47060861 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.910-14T>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002119946]	ChrX:47202344 [GRCh38] ChrX:47061743 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2003+22_2003+23del	microsatellite	Infantile-onset X-linked spinal muscular atrophy [RCV002217648]	ChrX:47209706..47209707 [GRCh38] ChrX:47069105..47069106 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1218C>T (p.Ala406=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002103568]	ChrX:47202799 [GRCh38] ChrX:47062198 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2053T>C (p.Leu685=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002157066]	ChrX:47209977 [GRCh38] ChrX:47069376 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2115C>T (p.Asp705=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002183761]	ChrX:47210039 [GRCh38] ChrX:47069438 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1294C>T (p.Leu432Phe)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002101438]	ChrX:47203003 [GRCh38] ChrX:47062402 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.750T>C (p.Phe250=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002139142]	ChrX:47201549 [GRCh38] ChrX:47060948 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.116A>T (p.Asn39Ile)	single nucleotide variant	not provided [RCV003110047]	ChrX:47198918 [GRCh38] ChrX:47058317 [GRCh37] ChrX:Xp11.3	uncertain significance
NC_000023.10:g.(?_46618120)_(48549553_?)del	deletion	X-linked severe congenital neutropenia [RCV003111118]\|not provided [RCV003122288]	ChrX:46618120..48549553 [GRCh37] ChrX:Xp11.23	pathogenic\|no classifications from unflagged records
NM_003334.4(UBA1):c.347T>G (p.Phe116Cys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003115856]\|not provided [RCV003435978]	ChrX:47199481 [GRCh38] ChrX:47058880 [GRCh37] ChrX:Xp11.3	uncertain significance
NC_000023.10:g.(?_46466387)_(50659607_?)del	deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003116676]	ChrX:46466387..50659607 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
NC_000023.10:g.(?_47058202)_(47074328_?)del	deletion	Infantile-onset X-linked spinal muscular atrophy [RCV003113256]	ChrX:47058202..47074328 [GRCh37] ChrX:Xp11.23	uncertain significance
NC_000023.10:g.(?_47058202)_(47074328_?)dup	duplication	Infantile-onset X-linked spinal muscular atrophy [RCV003113257]	ChrX:47058202..47074328 [GRCh37] ChrX:Xp11.23	uncertain significance
NC_000023.10:g.(?_46466387)_(47489243_?)del	deletion	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003123056]	ChrX:46466387..47489243 [GRCh37] ChrX:Xp11.23	pathogenic
NM_003334.4(UBA1):c.2169G>T (p.Arg723=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003118424]	ChrX:47210093 [GRCh38] ChrX:47069492 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.133G>A (p.Gly45Ser)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003121086]	ChrX:47199063 [GRCh38] ChrX:47058462 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1090G>A (p.Ala364Thr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003121087]	ChrX:47202671 [GRCh38] ChrX:47062070 [GRCh37] ChrX:Xp11.3	uncertain significance
Single allele	complex	Turner syndrome [RCV002280670]	ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21	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
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_003334.4(UBA1):c.1575+68del	deletion	not provided [RCV002287154]	ChrX:47203748 [GRCh38] ChrX:47063147 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.669G>A (p.Met223Ile)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002297807]	ChrX:47201357 [GRCh38] ChrX:47060756 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.367A>G (p.Ile123Val)	single nucleotide variant	Inborn genetic diseases [RCV002452703]\|Infantile-onset X-linked spinal muscular atrophy [RCV003621624]	ChrX:47199501 [GRCh38] ChrX:47058900 [GRCh37] ChrX:Xp11.3	uncertain significance
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_003334.4(UBA1):c.2571T>G (p.Phe857Leu)	single nucleotide variant	Inborn genetic diseases [RCV002452771]	ChrX:47212788 [GRCh38] ChrX:47072187 [GRCh37] ChrX:Xp11.3	uncertain significance
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_003334.4(UBA1):c.1963C>A (p.Leu655Ile)	single nucleotide variant	Inborn genetic diseases [RCV002423352]\|Infantile-onset X-linked spinal muscular atrophy [RCV003509756]	ChrX:47209647 [GRCh38] ChrX:47069046 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.851C>G (p.Ser284Cys)	single nucleotide variant	Inborn genetic diseases [RCV002447767]	ChrX:47202195 [GRCh38] ChrX:47061594 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.757G>A (p.Val253Ile)	single nucleotide variant	Inborn genetic diseases [RCV002394111]\|Infantile-onset X-linked spinal muscular atrophy [RCV003099688]	ChrX:47201556 [GRCh38] ChrX:47060955 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.896A>G (p.Lys299Arg)	single nucleotide variant	Inborn genetic diseases [RCV002449904]	ChrX:47202240 [GRCh38] ChrX:47061639 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.262G>A (p.Ala88Thr)	single nucleotide variant	Inborn genetic diseases [RCV002426465]	ChrX:47199294 [GRCh38] ChrX:47058693 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.556C>G (p.Leu186Val)	single nucleotide variant	Inborn genetic diseases [RCV002352040]	ChrX:47200969 [GRCh38] ChrX:47060368 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.875T>C (p.Val292Ala)	single nucleotide variant	Inborn genetic diseases [RCV002373591]\|Infantile-onset X-linked spinal muscular atrophy [RCV003776537]	ChrX:47202219 [GRCh38] ChrX:47061618 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2413G>A (p.Val805Ile)	single nucleotide variant	Inborn genetic diseases [RCV002450354]\|Infantile-onset X-linked spinal muscular atrophy [RCV003101796]	ChrX:47211174 [GRCh38] ChrX:47070573 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1487A>T (p.Glu496Val)	single nucleotide variant	Inborn genetic diseases [RCV002389603]	ChrX:47203608 [GRCh38] ChrX:47063007 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1349G>A (p.Arg450His)	single nucleotide variant	Inborn genetic diseases [RCV002387896]\|not provided [RCV003992640]	ChrX:47203144 [GRCh38] ChrX:47062543 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.678+6G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002862894]\|UBA1-related disorder [RCV003926453]	ChrX:47201372 [GRCh38] ChrX:47060771 [GRCh37] ChrX:Xp11.3	likely benign\|uncertain significance
NM_003334.4(UBA1):c.2838+16C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003074845]\|not specified [RCV003994494]	ChrX:47213197 [GRCh38] ChrX:47072596 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2219C>T (p.Pro740Leu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002686180]	ChrX:47210861 [GRCh38] ChrX:47070260 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.92C>G (p.Ser31Cys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002970682]	ChrX:47198894 [GRCh38] ChrX:47058293 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.853G>A (p.Asp285Asn)	single nucleotide variant	Inborn genetic diseases [RCV002774506]	ChrX:47202197 [GRCh38] ChrX:47061596 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1338+15C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002838034]	ChrX:47203062 [GRCh38] ChrX:47062461 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.448C>T (p.Pro150Ser)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002686022]	ChrX:47199582 [GRCh38] ChrX:47058981 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2841C>T (p.Tyr947=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003095355]	ChrX:47214329 [GRCh38] ChrX:47073728 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1575+9G>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002750794]	ChrX:47203705 [GRCh38] ChrX:47063104 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1483G>A (p.Gly495Arg)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002590692]	ChrX:47203604 [GRCh38] ChrX:47063003 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.261C>T (p.Ile87=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002696176]	ChrX:47199293 [GRCh38] ChrX:47058692 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2273A>G (p.Asn758Ser)	single nucleotide variant	Inborn genetic diseases [RCV004070805]\|Infantile-onset X-linked spinal muscular atrophy [RCV002638028]	ChrX:47210915 [GRCh38] ChrX:47070314 [GRCh37] ChrX:Xp11.3	likely benign\|uncertain significance
NM_003334.4(UBA1):c.909+9G>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002620700]	ChrX:47202262 [GRCh38] ChrX:47061661 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1859C>G (p.Ser620Cys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002662817]	ChrX:47206365 [GRCh38] ChrX:47065764 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1339-17C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002976638]	ChrX:47203117 [GRCh38] ChrX:47062516 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.588-20C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002705876]	ChrX:47201256 [GRCh38] ChrX:47060655 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.113C>T (p.Thr38Ile)	single nucleotide variant	Inborn genetic diseases [RCV002868332]	ChrX:47198915 [GRCh38] ChrX:47058314 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.54G>T (p.Lys18Asn)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003001808]	ChrX:47198856 [GRCh38] ChrX:47058255 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.57G>A (p.Pro19=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002999051]	ChrX:47198859 [GRCh38] ChrX:47058258 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1836C>G (p.Pro612=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002620094]	ChrX:47206342 [GRCh38] ChrX:47065741 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2247A>C (p.Pro749=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002797092]	ChrX:47210889 [GRCh38] ChrX:47070288 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.790C>G (p.Pro264Ala)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002824745]	ChrX:47201589 [GRCh38] ChrX:47060988 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2199+17G>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002761522]	ChrX:47210140 [GRCh38] ChrX:47069539 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.3091G>A (p.Val1031Met)	single nucleotide variant	Inborn genetic diseases [RCV004681533]\|Infantile-onset X-linked spinal muscular atrophy [RCV002695519]	ChrX:47214843 [GRCh38] ChrX:47074242 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2247A>G (p.Pro749=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002694808]	ChrX:47210889 [GRCh38] ChrX:47070288 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1233+20G>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002867467]	ChrX:47202834 [GRCh38] ChrX:47062233 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.72C>T (p.Ser24=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002666997]	ChrX:47198874 [GRCh38] ChrX:47058273 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1043G>A (p.Arg348Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002918344]	ChrX:47202491 [GRCh38] ChrX:47061890 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2964C>G (p.Thr988=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002876824]	ChrX:47214560 [GRCh38] ChrX:47073959 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2679C>A (p.Ala893=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003025801]	ChrX:47213022 [GRCh38] ChrX:47072421 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1420-5C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003085643]	ChrX:47203536 [GRCh38] ChrX:47062935 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2388C>A (p.Val796=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002871989]	ChrX:47211149 [GRCh38] ChrX:47070548 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.843C>G (p.Ser281=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003039996]	ChrX:47202187 [GRCh38] ChrX:47061586 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2839-4G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003085689]	ChrX:47214323 [GRCh38] ChrX:47073722 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1920C>T (p.Ala640=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002917530]	ChrX:47206426 [GRCh38] ChrX:47065825 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.779A>G (p.Asn260Ser)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002624261]	ChrX:47201578 [GRCh38] ChrX:47060977 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1234-18C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002624570]	ChrX:47202925 [GRCh38] ChrX:47062324 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.846C>T (p.Asn282=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002985663]	ChrX:47202190 [GRCh38] ChrX:47061589 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1923C>T (p.Ile641=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002740833]	ChrX:47206429 [GRCh38] ChrX:47065828 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.177-13C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002851965]	ChrX:47199196 [GRCh38] ChrX:47058595 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.345+20_345+23del	deletion	Infantile-onset X-linked spinal muscular atrophy [RCV002966656]	ChrX:47199395..47199398 [GRCh38] ChrX:47058794..47058797 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.953C>T (p.Thr318Met)	single nucleotide variant	Inborn genetic diseases [RCV002939331]	ChrX:47202401 [GRCh38] ChrX:47061800 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1575G>A (p.Thr525=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003091602]	ChrX:47203696 [GRCh38] ChrX:47063095 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2839-13_2839-12del	microsatellite	Infantile-onset X-linked spinal muscular atrophy [RCV002651211]	ChrX:47214312..47214313 [GRCh38] ChrX:47073711..47073712 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.1138G>A (p.Glu380Lys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002899585]	ChrX:47202719 [GRCh38] ChrX:47062118 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.81G>C (p.Gln27His)	single nucleotide variant	not provided [RCV003059945]	ChrX:47198883 [GRCh38] ChrX:47058282 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1392G>A (p.Glu464=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003060292]	ChrX:47203187 [GRCh38] ChrX:47062586 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.804A>C (p.Lys268Asn)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002630311]	ChrX:47201603 [GRCh38] ChrX:47061002 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.64A>G (p.Asn22Asp)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002650716]	ChrX:47198866 [GRCh38] ChrX:47058265 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2077C>T (p.Arg693Cys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002895639]\|not provided [RCV004763473]	ChrX:47210001 [GRCh38] ChrX:47069400 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.658A>G (p.Met220Val)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002933469]	ChrX:47201346 [GRCh38] ChrX:47060745 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.667A>G (p.Met223Val)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003045563]	ChrX:47201355 [GRCh38] ChrX:47060754 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.346-16C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002646587]	ChrX:47199464 [GRCh38] ChrX:47058863 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.480+9G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003027881]	ChrX:47199623 [GRCh38] ChrX:47059022 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2096G>A (p.Arg699Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002629057]	ChrX:47210020 [GRCh38] ChrX:47069419 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2408C>T (p.Ser803Phe)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002720145]	ChrX:47211169 [GRCh38] ChrX:47070568 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1288G>C (p.Glu430Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002834734]	ChrX:47202997 [GRCh38] ChrX:47062396 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.3074G>A (p.Arg1025Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003091085]	ChrX:47214826 [GRCh38] ChrX:47074225 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1741+20A>G	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003089261]	ChrX:47206133 [GRCh38] ChrX:47065532 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.405C>T (p.Leu135=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002721634]	ChrX:47199539 [GRCh38] ChrX:47058938 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2621A>C (p.Asp874Ala)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002608418]	ChrX:47212838 [GRCh38] ChrX:47072237 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2275-17G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002633462]	ChrX:47211019 [GRCh38] ChrX:47070418 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.822C>T (p.Thr274=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002611233]	ChrX:47202166 [GRCh38] ChrX:47061565 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2823C>T (p.Ala941=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002680672]\|not provided [RCV003435817]	ChrX:47213166 [GRCh38] ChrX:47072565 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.1612C>A (p.Gln538Lys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002609948]	ChrX:47205984 [GRCh38] ChrX:47065383 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.454G>A (p.Val152Ile)	single nucleotide variant	Inborn genetic diseases [RCV004065609]\|Infantile-onset X-linked spinal muscular atrophy [RCV002589887]	ChrX:47199588 [GRCh38] ChrX:47058987 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.920T>C (p.Val307Ala)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV002633234]	ChrX:47202368 [GRCh38] ChrX:47061767 [GRCh37] ChrX:Xp11.3	uncertain significance
NC_000023.10:g.(?_46466387)_(51241672_?)del	deletion	not provided [RCV003154905]	ChrX:46466387..51241672 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
NM_003334.4(UBA1):c.1592C>T (p.Thr531Met)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003139207]	ChrX:47205964 [GRCh38] ChrX:47065363 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.117C>T (p.Asn39=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003139208]	ChrX:47198919 [GRCh38] ChrX:47058318 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2687C>T (p.Thr896Met)	single nucleotide variant	not provided [RCV003223994]	ChrX:47213030 [GRCh38] ChrX:47072429 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1939-171_1939-167del	microsatellite	not provided [RCV003322118]	ChrX:47209446..47209450 [GRCh38] ChrX:47068845..47068849 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1575+5G>A	single nucleotide variant	not provided [RCV003322183]	ChrX:47203701 [GRCh38] ChrX:47063100 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1652G>A (p.Arg551His)	single nucleotide variant	not provided [RCV003328881]	ChrX:47206024 [GRCh38] ChrX:47065423 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2897A>C (p.Asn966Thr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003337749]	ChrX:47214385 [GRCh38] ChrX:47073784 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2134C>T (p.His712Tyr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622877]	ChrX:47210058 [GRCh38] ChrX:47069457 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.636T>C (p.Asn212=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622967]	ChrX:47201324 [GRCh38] ChrX:47060723 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2199+8C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622990]	ChrX:47210131 [GRCh38] ChrX:47069530 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.205C>T (p.Arg69Trp)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003623088]	ChrX:47199237 [GRCh38] ChrX:47058636 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2492C>T (p.Ala831Val)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003623863]	ChrX:47212451 [GRCh38] ChrX:47071850 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1378T>C (p.Ser460Pro)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003623134]	ChrX:47203173 [GRCh38] ChrX:47062572 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.153C>T (p.Asp51=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003623143]	ChrX:47199083 [GRCh38] ChrX:47058482 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2465-5T>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003623354]	ChrX:47212419 [GRCh38] ChrX:47071818 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.3091G>T (p.Val1031Leu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003623262]	ChrX:47214843 [GRCh38] ChrX:47074242 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2071G>C (p.Val691Leu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003623814]	ChrX:47209995 [GRCh38] ChrX:47069394 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1233+15G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003623486]	ChrX:47202829 [GRCh38] ChrX:47062228 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2003+10T>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003623778]	ChrX:47209697 [GRCh38] ChrX:47069096 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.406G>A (p.Ala136Thr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003623762]	ChrX:47199540 [GRCh38] ChrX:47058939 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2700C>T (p.Ala900=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003623763]	ChrX:47213043 [GRCh38] ChrX:47072442 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2078G>A (p.Arg693His)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003623852]	ChrX:47210002 [GRCh38] ChrX:47069401 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.502C>T (p.Pro168Ser)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003486297]	ChrX:47200915 [GRCh38] ChrX:47060314 [GRCh37] ChrX:Xp11.3	benign\|likely benign
NM_003334.4(UBA1):c.811+17G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622533]	ChrX:47201627 [GRCh38] ChrX:47061026 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1252A>G (p.Met418Val)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622538]	ChrX:47202961 [GRCh38] ChrX:47062360 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2274+14C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622355]	ChrX:47210930 [GRCh38] ChrX:47070329 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.3177A>G (p.Ter1059Trp)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622438]	ChrX:47214929 [GRCh38] ChrX:47074328 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.484G>T (p.Val162Leu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622449]	ChrX:47200897 [GRCh38] ChrX:47060296 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1858T>C (p.Ser620Pro)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622628]	ChrX:47206364 [GRCh38] ChrX:47065763 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1939-10C>G	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003872752]	ChrX:47209613 [GRCh38] ChrX:47069012 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.345+11C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622563]	ChrX:47199388 [GRCh38] ChrX:47058787 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2685C>T (p.Ala895=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622493]	ChrX:47213028 [GRCh38] ChrX:47072427 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.384C>T (p.Ala128=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003623291]	ChrX:47199518 [GRCh38] ChrX:47058917 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1668G>A (p.Thr556=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003623343]	ChrX:47206040 [GRCh38] ChrX:47065439 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.678+4A>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622606]	ChrX:47201370 [GRCh38] ChrX:47060769 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1741+15G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622440]	ChrX:47206128 [GRCh38] ChrX:47065527 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1233+9G>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622375]	ChrX:47202823 [GRCh38] ChrX:47062222 [GRCh37] ChrX:Xp11.3	uncertain significance
GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3	copy number gain	not provided [RCV003485287]	ChrX:44663115..48237646 [GRCh37] ChrX:Xp11.3-11.23	uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	copy number loss	not provided [RCV003483407]	ChrX:2696762..53113314 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	copy number loss	not provided [RCV003483920]	ChrX:36355238..54106257 [GRCh37] ChrX:Xp21.1-11.22	pathogenic
NM_003334.4(UBA1):c.3099G>A (p.Ala1033=)	single nucleotide variant	not provided [RCV003438185]	ChrX:47214851 [GRCh38] ChrX:47074250 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2276C>G (p.Pro759Arg)	single nucleotide variant	not provided [RCV003438181]	ChrX:47211037 [GRCh38] ChrX:47070436 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.3048A>C (p.Thr1016=)	single nucleotide variant	not provided [RCV003438183]	ChrX:47214800 [GRCh38] ChrX:47074199 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.56C>T (p.Pro19Leu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003486283]	ChrX:47198858 [GRCh38] ChrX:47058257 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2639G>A (p.Arg880Gln)	single nucleotide variant	UBA1-related disorder [RCV003391544]	ChrX:47212856 [GRCh38] ChrX:47072255 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1950T>A (p.Asp650Glu)	single nucleotide variant	not provided [RCV003438180]	ChrX:47209634 [GRCh38] ChrX:47069033 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2765A>T (p.Tyr922Phe)	single nucleotide variant	not provided [RCV003438182]	ChrX:47213108 [GRCh38] ChrX:47072507 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.3065T>C (p.Val1022Ala)	single nucleotide variant	not provided [RCV003438184]	ChrX:47214817 [GRCh38] ChrX:47074216 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1-2333G>A	single nucleotide variant	not provided [RCV003438178]	ChrX:47196470 [GRCh38] ChrX:47055869 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1939-283G>C	single nucleotide variant	not provided [RCV003438179]	ChrX:47209340 [GRCh38] ChrX:47068739 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2878G>A (p.Val960Ile)	single nucleotide variant	UBA1-related disorder [RCV003408350]	ChrX:47214366 [GRCh38] ChrX:47073765 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1042C>T (p.Arg348Trp)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003830389]	ChrX:47202490 [GRCh38] ChrX:47061889 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2045C>G (p.Thr682Ser)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003876787]	ChrX:47209969 [GRCh38] ChrX:47069368 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.3095G>A (p.Arg1032Gln)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003510756]	ChrX:47214847 [GRCh38] ChrX:47074246 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2554-6_2554-5del	deletion	Infantile-onset X-linked spinal muscular atrophy [RCV003509394]	ChrX:47212764..47212765 [GRCh38] ChrX:47072163..47072164 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.345+29_345+36del	microsatellite	Infantile-onset X-linked spinal muscular atrophy [RCV003509900]	ChrX:47199397..47199404 [GRCh38] ChrX:47058796..47058803 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.588-4A>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003509923]	ChrX:47201272 [GRCh38] ChrX:47060671 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1939-18T>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003882658]	ChrX:47209605 [GRCh38] ChrX:47069004 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.345+20T>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003511347]	ChrX:47199397 [GRCh38] ChrX:47058796 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1939-14_1939-13delinsAT	indel	Infantile-onset X-linked spinal muscular atrophy [RCV003877108]	ChrX:47209609..47209610 [GRCh38] ChrX:47069008..47069009 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2274+10C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003878907]	ChrX:47210926 [GRCh38] ChrX:47070325 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.3144C>T (p.Val1048=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003879798]	ChrX:47214896 [GRCh38] ChrX:47074295 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.75T>G (p.Pro25=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003510933]	ChrX:47198877 [GRCh38] ChrX:47058276 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.545G>A (p.Arg182His)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003829322]	ChrX:47200958 [GRCh38] ChrX:47060357 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2274+10_2274+14del	deletion	Infantile-onset X-linked spinal muscular atrophy [RCV003510511]	ChrX:47210924..47210928 [GRCh38] ChrX:47070323..47070327 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.829A>G (p.Ile277Val)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003511199]	ChrX:47202173 [GRCh38] ChrX:47061572 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1056+20A>G	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003511258]	ChrX:47202524 [GRCh38] ChrX:47061923 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2942C>A (p.Thr981Lys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003876095]	ChrX:47214538 [GRCh38] ChrX:47073937 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1115C>G (p.Ala372Gly)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003511415]	ChrX:47202696 [GRCh38] ChrX:47062095 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.588-13C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003511175]	ChrX:47201263 [GRCh38] ChrX:47060662 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2701G>A (p.Val901Met)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003830694]	ChrX:47213044 [GRCh38] ChrX:47072443 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.786T>C (p.Asn262=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003509234]	ChrX:47201585 [GRCh38] ChrX:47060984 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2433C>T (p.Asp811=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003510214]	ChrX:47211194 [GRCh38] ChrX:47070593 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2003+11C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003510252]	ChrX:47209698 [GRCh38] ChrX:47069097 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.587+21del	deletion	Infantile-onset X-linked spinal muscular atrophy [RCV003509216]	ChrX:47201019 [GRCh38] ChrX:47060418 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2455_2456delinsAT (p.Ala819Ile)	indel	Infantile-onset X-linked spinal muscular atrophy [RCV003876358]	ChrX:47211216..47211217 [GRCh38] ChrX:47070615..47070616 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1742-3C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003510141]	ChrX:47206245 [GRCh38] ChrX:47065644 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2250C>T (p.His750=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003510880]	ChrX:47210892 [GRCh38] ChrX:47070291 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1163A>G (p.Tyr388Cys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003511272]	ChrX:47202744 [GRCh38] ChrX:47062143 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1234-19_1234-16del	microsatellite	Infantile-onset X-linked spinal muscular atrophy [RCV003511419]	ChrX:47202921..47202924 [GRCh38] ChrX:47062320..47062323 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1-555A>G	single nucleotide variant	not specified [RCV003489007]	ChrX:47198248 [GRCh38] ChrX:47057647 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.1278T>C (p.Phe426=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003509913]	ChrX:47202987 [GRCh38] ChrX:47062386 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1089G>T (p.Gln363His)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003509097]	ChrX:47202670 [GRCh38] ChrX:47062069 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.914C>G (p.Ser305Cys)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003849981]	ChrX:47202362 [GRCh38] ChrX:47061761 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.572C>T (p.Thr191Met)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003815094]	ChrX:47200985 [GRCh38] ChrX:47060384 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2638C>T (p.Arg880Trp)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003851865]	ChrX:47212855 [GRCh38] ChrX:47072254 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2859A>G (p.Thr953=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003833951]	ChrX:47214347 [GRCh38] ChrX:47073746 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.264T>C (p.Ala88=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003837944]	ChrX:47199296 [GRCh38] ChrX:47058695 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1742-19C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622109]	ChrX:47206229 [GRCh38] ChrX:47065628 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2274+14C>G	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622285]	ChrX:47210930 [GRCh38] ChrX:47070329 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2464+7G>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003848792]	ChrX:47211232 [GRCh38] ChrX:47070631 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2604C>G (p.Leu868=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622057]	ChrX:47212821 [GRCh38] ChrX:47072220 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2365A>G (p.Thr789Ala)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622066]	ChrX:47211126 [GRCh38] ChrX:47070525 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.3090C>T (p.His1030=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622262]	ChrX:47214842 [GRCh38] ChrX:47074241 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2839-20C>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003621997]	ChrX:47214307 [GRCh38] ChrX:47073706 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.679-16C>G	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003843972]	ChrX:47201462 [GRCh38] ChrX:47060861 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1686C>T (p.Asp562=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003621824]	ChrX:47206058 [GRCh38] ChrX:47065457 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2004-6T>C	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622145]	ChrX:47209922 [GRCh38] ChrX:47069321 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.503C>T (p.Pro168Leu)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622099]	ChrX:47200916 [GRCh38] ChrX:47060315 [GRCh37] ChrX:Xp11.3	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	copy number loss	not specified [RCV003986200]	ChrX:168546..55653170 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	copy number loss	not specified [RCV003986240]	ChrX:168546..58364114 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
NM_003334.4(UBA1):c.1576-14T>C	single nucleotide variant	not provided [RCV003542524]	ChrX:47205934 [GRCh38] ChrX:47065333 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.909+11C>T	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003870669]	ChrX:47202264 [GRCh38] ChrX:47061663 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.118-10C>G	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003621820]	ChrX:47199038 [GRCh38] ChrX:47058437 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.840C>G (p.Thr280=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003621869]	ChrX:47202184 [GRCh38] ChrX:47061583 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2340C>T (p.Gly780=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622174]	ChrX:47211101 [GRCh38] ChrX:47070500 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.15G>A (p.Pro5=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003853407]	ChrX:47198817 [GRCh38] ChrX:47058216 [GRCh37] ChrX:Xp11.3	benign
NM_003334.4(UBA1):c.2646+19_2646+20del	deletion	Infantile-onset X-linked spinal muscular atrophy [RCV003858074]	ChrX:47212882..47212883 [GRCh38] ChrX:47072281..47072282 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.76G>A (p.Ala26Thr)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003621839]	ChrX:47198878 [GRCh38] ChrX:47058277 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2484G>A (p.Glu828=)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003621818]	ChrX:47212443 [GRCh38] ChrX:47071842 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1921A>G (p.Ile641Val)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622061]	ChrX:47206427 [GRCh38] ChrX:47065826 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2554-6T>A	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622063]	ChrX:47212765 [GRCh38] ChrX:47072164 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.2119G>A (p.Val707Met)	single nucleotide variant	Infantile-onset X-linked spinal muscular atrophy [RCV003622067]	ChrX:47210043 [GRCh38] ChrX:47069442 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2275-5_2275-3del	deletion	UBA1-related disorder [RCV003901390]	ChrX:47211029..47211031 [GRCh38] ChrX:47070428..47070430 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.355C>T (p.Arg119Trp)	single nucleotide variant	VEXAS syndrome [RCV003991703]	ChrX:47199489 [GRCh38] ChrX:47058888 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.2646+3G>A	single nucleotide variant	UBA1-related disorder [RCV003913971]	ChrX:47212866 [GRCh38] ChrX:47072265 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.977C>G (p.Pro326Arg)	single nucleotide variant	UBA1-related disorder [RCV004755269]	ChrX:47202425 [GRCh38] ChrX:47061824 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1763G>C (p.Cys588Ser)	single nucleotide variant	Inborn genetic diseases [RCV004484222]	ChrX:47206269 [GRCh38] ChrX:47065668 [GRCh37] ChrX:Xp11.3	uncertain significance
NM_003334.4(UBA1):c.1001A>C (p.Gln334Pro)	single nucleotide variant	Inborn genetic diseases [RCV004484220]	ChrX:47202449 [GRCh38] ChrX:47061848 [GRCh37] ChrX:Xp11.3	likely benign
NM_003334.4(UBA1):c.1002G>C (p.Gln334His)	single nucleotide variant	Inborn genetic diseases [RCV004484221]	ChrX:47202450 [GRCh38] ChrX:47061849 [GRCh37] ChrX:Xp11.3	likely benign
NC_000023.10:g.(?_46466387)_(51241672_?)dup	duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV004580271]	ChrX:46466387..51241672 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
NM_003334.4(UBA1):c.1651C>T (p.Arg551Cys)	single nucleotide variant	not provided [RCV004592446]	ChrX:47206023 [GRCh38] ChrX:47065422 [GRCh37] ChrX:Xp11.3	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	copy number gain	Klinefelter syndrome [RCV004579655]	ChrX:2757837..156030895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
NM_003334.4(UBA1):c.1319C>G (p.Thr440Arg)	single nucleotide variant	not provided [RCV004759870]		uncertain significance
NM_003334.4(UBA1):c.2542G>A (p.Asp848Asn)	single nucleotide variant	not provided [RCV004759917]		uncertain significance
NM_003334.4(UBA1):c.2069C>G (p.Ala690Gly)	single nucleotide variant	not provided [RCV004761724]		uncertain significance
GRCh38/hg38 Xp11.3(chrX:46270996-47571920)x2	copy number gain	Intellectual disability [RCV004776408]	ChrX:46270996..47571920 [GRCh38] ChrX:Xp11.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2663
Count of miRNA genes:	859
Interacting mature miRNAs:	1008
Transcripts:	ENST00000335972, ENST00000377269, ENST00000377351, ENST00000412206, ENST00000427561, ENST00000442035, ENST00000451702, ENST00000457753, ENST00000490869
Prediction methods:	Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

WI-18308

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,063,591 - 47,063,716	UniSTS	GRCh37
Build 36	X	46,948,535 - 46,948,660	RGD	NCBI36
Celera	X	51,258,881 - 51,259,006	RGD
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	X	p11.4-p11.3	UniSTS
GeneMap99-GB4 RH Map	X	137.29	UniSTS
Whitehead-RH Map	X	53.5	UniSTS
NCBI RH Map	X	169.7	UniSTS

AL032564

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,069,675 - 47,069,796	UniSTS	GRCh37
Build 36	X	46,954,619 - 46,954,740	RGD	NCBI36
Celera	X	51,264,967 - 51,265,088	RGD
Cytogenetic Map	X	p11.23	UniSTS
HuRef	X	44,779,937 - 44,780,058	UniSTS

AL031251

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,072,290 - 47,072,461	UniSTS	GRCh37
Build 36	X	46,957,234 - 46,957,405	RGD	NCBI36
Celera	X	51,267,582 - 51,267,753	RGD
Cytogenetic Map	X	p11.23	UniSTS
HuRef	X	44,782,552 - 44,782,723	UniSTS

RH18112

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,074,201 - 47,074,324	UniSTS	GRCh37
Build 36	X	46,959,145 - 46,959,268	RGD	NCBI36
Celera	X	51,269,493 - 51,269,616	RGD
Cytogenetic Map	X	p11.23	UniSTS
HuRef	X	44,784,463 - 44,784,586	UniSTS
GeneMap99-GB4 RH Map	X	138.25	UniSTS
NCBI RH Map	X	165.2	UniSTS

INE1_8829

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,064,460 - 47,065,359	UniSTS	GRCh37
Build 36	X	46,949,404 - 46,950,303	RGD	NCBI36
Celera	X	51,259,750 - 51,260,649	RGD
HuRef	X	44,774,822 - 44,775,721	UniSTS

DXS6974E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,064,792 - 47,064,979	UniSTS	GRCh37
Build 36	X	46,949,736 - 46,949,923	RGD	NCBI36
Celera	X	51,260,082 - 51,260,269	RGD
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	X	p11.4-p11.3	UniSTS
HuRef	X	44,775,154 - 44,775,341	UniSTS
GeneMap99-GB4 RH Map	X	137.29	UniSTS

RH48434

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,061,597 - 47,061,821	UniSTS	GRCh37
Build 36	X	46,946,541 - 46,946,765	RGD	NCBI36
Celera	X	51,256,887 - 51,257,111	RGD
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	X	p11.4-p11.3	UniSTS
HuRef	X	44,772,716 - 44,772,940	UniSTS
GeneMap99-GB4 RH Map	X	137.29	UniSTS

MARC_4929-4930:991938967:3

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,073,746 - 47,074,329	UniSTS	GRCh37
Build 36	X	46,958,690 - 46,959,273	RGD	NCBI36
Celera	X	51,269,038 - 51,269,621	RGD
HuRef	X	44,784,008 - 44,784,591	UniSTS

UniSTS:484337

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	47,064,435 - 47,064,851	UniSTS	GRCh37
Build 36	X	46,949,379 - 46,949,795	RGD	NCBI36
Celera	X	51,259,725 - 51,260,141	RGD
HuRef	X	44,774,797 - 44,775,213	UniSTS

D8S2279

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	21	q22.12	UniSTS
Cytogenetic Map	15	q13	UniSTS
Cytogenetic Map	9	q32	UniSTS
Cytogenetic Map	15	q22.3	UniSTS
Cytogenetic Map	17	p12	UniSTS
Cytogenetic Map	21	q21.3	UniSTS
Cytogenetic Map	3	p22-p21.3	UniSTS
Cytogenetic Map	1	q21.1	UniSTS
Cytogenetic Map	2	q24.2	UniSTS
Cytogenetic Map	17	q24.2	UniSTS
Cytogenetic Map	1	q32	UniSTS
Cytogenetic Map	3	p25.3	UniSTS
Cytogenetic Map	20	q13.3	UniSTS
Cytogenetic Map	2	q31.1	UniSTS
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	3	p14.1	UniSTS
Cytogenetic Map	2	q37.3	UniSTS
Cytogenetic Map	7	p14.1	UniSTS
Cytogenetic Map	2	q22.3	UniSTS
Cytogenetic Map	15	q13.2	UniSTS
Cytogenetic Map	12	q24.1	UniSTS
Cytogenetic Map	7	p15.2	UniSTS
Cytogenetic Map	5	q31.2	UniSTS
Cytogenetic Map	2	p25.2	UniSTS
Cytogenetic Map	3	p24.3	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	15	q22.31	UniSTS
Cytogenetic Map	5	q14	UniSTS
Cytogenetic Map	5	q31	UniSTS
Cytogenetic Map	1	p36.32	UniSTS
Cytogenetic Map	1	q42.12	UniSTS
Cytogenetic Map	7	q21.11	UniSTS
Cytogenetic Map	9	q34.2	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	8	q22.3	UniSTS
Cytogenetic Map	6	p21.1-p12	UniSTS
Cytogenetic Map	1	p36.13	UniSTS
Cytogenetic Map	7	q36.3	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	7	p21.3	UniSTS
Cytogenetic Map	4	q12	UniSTS
Cytogenetic Map	22	q11.22	UniSTS
Cytogenetic Map	11	p13	UniSTS
Cytogenetic Map	1	q12	UniSTS
Cytogenetic Map	8	p23	UniSTS
Cytogenetic Map	11	q13.2-q13.3	UniSTS
Cytogenetic Map	13	q14.1-q14.3	UniSTS
Cytogenetic Map	3	q22-q24	UniSTS
Cytogenetic Map	3	q13.1-q13.2	UniSTS
Cytogenetic Map	16	q24	UniSTS
Cytogenetic Map	5	q23.3-q31.1	UniSTS
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	14	q32.3	UniSTS
Cytogenetic Map	7	q11.23	UniSTS
Cytogenetic Map	7	q32	UniSTS
Cytogenetic Map	14	q32.33	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	9	q34.3	UniSTS
Cytogenetic Map	1	p32.3	UniSTS
Cytogenetic Map	17	q11	UniSTS
Cytogenetic Map	17	p13.1-p12	UniSTS
Cytogenetic Map	18	q21.33	UniSTS
Cytogenetic Map	19	p13.12	UniSTS
Cytogenetic Map	5	q14.1	UniSTS
Cytogenetic Map	14	q24.3	UniSTS
Cytogenetic Map	1	q21-q23	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	4	q21.1	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	14	q23.3	UniSTS
Cytogenetic Map	17	p12-p11.2	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	1	q24	UniSTS
Cytogenetic Map	1	q43	UniSTS
Cytogenetic Map	9	q34.13	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	2	q32	UniSTS
Cytogenetic Map	X	p22.2	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	2	q33	UniSTS
Cytogenetic Map	10	p13	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	3	q27	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	4	p16.1	UniSTS
Cytogenetic Map	14	q22.3	UniSTS
Cytogenetic Map	10	q23-q24	UniSTS
Cytogenetic Map	2	q37.1	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	14	q31-q32	UniSTS
Cytogenetic Map	5	p15.33	UniSTS
Cytogenetic Map	1	q23.2	UniSTS
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	4	p14	UniSTS
Cytogenetic Map	2	q32.3	UniSTS
Cytogenetic Map	15	q21.1	UniSTS
Cytogenetic Map	4	q32.2	UniSTS
Cytogenetic Map	10	q23	UniSTS
Cytogenetic Map	5	q14.2	UniSTS
Cytogenetic Map	4	q32.1	UniSTS
Cytogenetic Map	1	q25.1	UniSTS
Cytogenetic Map	11	q14.1	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	11	q23.1	UniSTS
Cytogenetic Map	3	p21.1	UniSTS
Cytogenetic Map	16	q22.2	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	16	q11.2	UniSTS
Cytogenetic Map	6	q22	UniSTS
Cytogenetic Map	10	p15.3	UniSTS
Cytogenetic Map	11	q23	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	12	q12	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	19	q13.11	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	15	q15	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	22	q12.3	UniSTS
Cytogenetic Map	20	q11	UniSTS
Cytogenetic Map	22	q11.23	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	3	p22.1	UniSTS
Cytogenetic Map	8	q22.1	UniSTS
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	18	p11.31	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	2	p22.1	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	1	p35.2	UniSTS
Cytogenetic Map	Y	p11.2	UniSTS
Cytogenetic Map	13	q13.1	UniSTS
Cytogenetic Map	20	q11.22	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	18	q12	UniSTS
Cytogenetic Map	17	q21.33	UniSTS
Cytogenetic Map	15	q15.1	UniSTS
Cytogenetic Map	3	q27.2	UniSTS
Cytogenetic Map	3	q21.3	UniSTS
Cytogenetic Map	5	p15.2	UniSTS
Cytogenetic Map	20	q13.12	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	1	q42	UniSTS
Cytogenetic Map	14	q32.11	UniSTS
Cytogenetic Map	17	q21.2-q21.3	UniSTS
Cytogenetic Map	5	q32-q34	UniSTS
Cytogenetic Map	15	q14	UniSTS
Cytogenetic Map	16	q13	UniSTS
Cytogenetic Map	3	q21.2	UniSTS
Cytogenetic Map	3	p21.3	UniSTS
Cytogenetic Map	14	q24.2	UniSTS
Cytogenetic Map	12	q24.13	UniSTS
Cytogenetic Map	13	q14.11	UniSTS
Cytogenetic Map	3	q27.3	UniSTS
Cytogenetic Map	1	q32.3	UniSTS
Cytogenetic Map	6	p22.1	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	6	q21	UniSTS
Cytogenetic Map	6	q25.3	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	13	q14.3	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	10	p12	UniSTS
Cytogenetic Map	2	q33.3	UniSTS
Cytogenetic Map	14	q21.3	UniSTS
Cytogenetic Map	8	p22-p21	UniSTS
Cytogenetic Map	18	q11.2	UniSTS
Cytogenetic Map	2	p15	UniSTS
Cytogenetic Map	17	q22	UniSTS
Cytogenetic Map	12	q21.33	UniSTS
Cytogenetic Map	20	q13.32	UniSTS
Cytogenetic Map	1	p34.1	UniSTS
Cytogenetic Map	10	q26	UniSTS
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	7	q21.13	UniSTS
Cytogenetic Map	7	q31.1	UniSTS
Cytogenetic Map	1	p33	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	22	q12.2	UniSTS
Cytogenetic Map	9	q22.3	UniSTS
Cytogenetic Map	8	q13.1	UniSTS
Cytogenetic Map	3	q25	UniSTS
Cytogenetic Map	1	p36.33	UniSTS
Cytogenetic Map	20	q13.33	UniSTS
Cytogenetic Map	1	p31.3	UniSTS
Cytogenetic Map	14	q31.1	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	12	q13.2	UniSTS
Cytogenetic Map	22	q13.31-q13.33	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
Cytogenetic Map	11	p11.2	UniSTS
Cytogenetic Map	1	q41	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	17	q23.2	UniSTS
Cytogenetic Map	7	q32.2	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	6	q25.1	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	9	p13.3	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	3	q29	UniSTS
Cytogenetic Map	7	p13	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	14	q31-q32.1	UniSTS
Cytogenetic Map	1	q42.11	UniSTS
Cytogenetic Map	4	q35.1	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	2	p13.3	UniSTS
Cytogenetic Map	X	p11.3	UniSTS
Cytogenetic Map	2	q11.2-q12.1	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	1	p22	UniSTS
Cytogenetic Map	6	q16.2	UniSTS
Cytogenetic Map	18	q23	UniSTS
Cytogenetic Map	2	q14	UniSTS
Cytogenetic Map	20	p11.23-p11.21	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	8	p11.23	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	19	q13	UniSTS
Cytogenetic Map	8	p11.21	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
Cytogenetic Map	X	q26.3	UniSTS
Cytogenetic Map	8	q24.11	UniSTS
Cytogenetic Map	10	q23.1	UniSTS
Cytogenetic Map	1	q44	UniSTS
Cytogenetic Map	9	q22.33	UniSTS
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	9	q21.32	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	9	q33.3	UniSTS
Cytogenetic Map	1	p36.1	UniSTS
Cytogenetic Map	20	q12	UniSTS
Cytogenetic Map	4	q21.23	UniSTS
Cytogenetic Map	5	q13.2	UniSTS
Cytogenetic Map	22	q12.1	UniSTS
Cytogenetic Map	5	q31.1	UniSTS
Cytogenetic Map	2	q21.3	UniSTS
Cytogenetic Map	7	q21.2	UniSTS
Cytogenetic Map	17	q22.2	UniSTS
Cytogenetic Map	17	p13	UniSTS
Cytogenetic Map	12	q24.11	UniSTS
Cytogenetic Map	18	q21	UniSTS
Cytogenetic Map	10	q11.1	UniSTS
Cytogenetic Map	22	q11.2	UniSTS
Cytogenetic Map	19	q12	UniSTS
Cytogenetic Map	7	q34-q35	UniSTS
Cytogenetic Map	15	q24.1	UniSTS
Cytogenetic Map	18	p11.21	UniSTS
Cytogenetic Map	1	q23.1	UniSTS
Cytogenetic Map	19	q13.41	UniSTS
Cytogenetic Map	6	p25.1-p23	UniSTS
Cytogenetic Map	11	p15.4	UniSTS
Cytogenetic Map	10	q22	UniSTS
Cytogenetic Map	5	q35.3	UniSTS
Cytogenetic Map	18	q12.1-q21.1	UniSTS
Cytogenetic Map	12	p13.1	UniSTS
Cytogenetic Map	13	q12.1	UniSTS
Cytogenetic Map	12	q15	UniSTS
Cytogenetic Map	6	p21.32	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	10	p14	UniSTS
Cytogenetic Map	12	p13.1-p12.3	UniSTS
Cytogenetic Map	3	p25.2	UniSTS
Cytogenetic Map	6	p21.33	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
Cytogenetic Map	3	p21.2	UniSTS
Cytogenetic Map	10	q26.3	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	X	p21.2	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	14	q12	UniSTS
Cytogenetic Map	8	p11.22	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	9	q21.12	UniSTS
Cytogenetic Map	15	q23	UniSTS
Cytogenetic Map	7	p22.2	UniSTS
Cytogenetic Map	8	p21.2	UniSTS
Cytogenetic Map	7	q33	UniSTS
Cytogenetic Map	15	q15.3	UniSTS
Cytogenetic Map	4	q21.22	UniSTS
Cytogenetic Map	12	q13.12	UniSTS
Cytogenetic Map	10	q24.31	UniSTS
Cytogenetic Map	12	p13.31	UniSTS
Cytogenetic Map	14	q32.12	UniSTS
Cytogenetic Map	10	q24.32	UniSTS
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	16	p12.3	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	2	q24.3	UniSTS
Cytogenetic Map	2	q33.2	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	1	p31.1	UniSTS
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
Cytogenetic Map	3	q13.31	UniSTS
Cytogenetic Map	15	q22.2	UniSTS
Cytogenetic Map	5	q32	UniSTS
Cytogenetic Map	6	q13	UniSTS
Cytogenetic Map	X	q24	UniSTS
Cytogenetic Map	6	q25	UniSTS
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	12	p13-p12	UniSTS
Cytogenetic Map	9	p13.2	UniSTS
Cytogenetic Map	6	p22	UniSTS
Cytogenetic Map	2	q12.1	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	9	q22.2	UniSTS
Cytogenetic Map	1	q22	UniSTS
Cytogenetic Map	1	p22.1	UniSTS
Cytogenetic Map	1	p36	UniSTS
Cytogenetic Map	9	q13-q21	UniSTS
Cytogenetic Map	11	p15.5	UniSTS
Cytogenetic Map	X	p11.2	UniSTS
Cytogenetic Map	19	p	UniSTS
Cytogenetic Map	19	p13.1-p12	UniSTS
Cytogenetic Map	7	q22	UniSTS
Cytogenetic Map	12	q24.33	UniSTS
Cytogenetic Map	3	q21	UniSTS
Cytogenetic Map	8	q24	UniSTS
Cytogenetic Map	18	p11.31-p11.21	UniSTS
Cytogenetic Map	11	p15.3-p15.1	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	8	q22	UniSTS
Cytogenetic Map	4	p15.1	UniSTS
Cytogenetic Map	1	q25.2	UniSTS
Cytogenetic Map	2	p16.3	UniSTS
Cytogenetic Map	16	p13.12	UniSTS
Cytogenetic Map	7	p21.2	UniSTS
Cytogenetic Map	12	q21.1	UniSTS
Cytogenetic Map	2	p14	UniSTS
Cytogenetic Map	6	q24.3	UniSTS
Cytogenetic Map	10	q22.2	UniSTS
Cytogenetic Map	5	q23.1	UniSTS
Cytogenetic Map	10	q23.2	UniSTS
Cytogenetic Map	7	p22.3	UniSTS
Cytogenetic Map	21	q22.2	UniSTS
Cytogenetic Map	6	q22.1	UniSTS
Cytogenetic Map	1	q42.1	UniSTS
Cytogenetic Map	1	q25	UniSTS
Cytogenetic Map	6	p22.3	UniSTS
Cytogenetic Map	1	q21.2	UniSTS
Cytogenetic Map	15	q22.1	UniSTS
Cytogenetic Map	12	p13.2	UniSTS
Cytogenetic Map	12	q22	UniSTS
Cytogenetic Map	3	p21-p12	UniSTS
Cytogenetic Map	4	q35	UniSTS
Cytogenetic Map	1	p34-p33	UniSTS
Cytogenetic Map	21	q22.11	UniSTS
Cytogenetic Map	3	p22-p21.33	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	3	q22.1	UniSTS
Cytogenetic Map	8	q21.11	UniSTS
Cytogenetic Map	X	q22.3	UniSTS
Cytogenetic Map	7	p14	UniSTS
Cytogenetic Map	17	q21.1	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	1	q42.3	UniSTS
Cytogenetic Map	9	q22	UniSTS
Cytogenetic Map	2	q12.3	UniSTS
Cytogenetic Map	20	q11.2-q13.2	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	17	q24	UniSTS
Cytogenetic Map	3	q25.31	UniSTS
Cytogenetic Map	6	p24.3	UniSTS
Cytogenetic Map	2	q31.3	UniSTS
Cytogenetic Map	1	q31	UniSTS
Cytogenetic Map	7	q32-q33	UniSTS
Cytogenetic Map	7	q21.1	UniSTS
Cytogenetic Map	14	q23-q24.2	UniSTS
Cytogenetic Map	19	q13.3-q13.4	UniSTS
Cytogenetic Map	2	p24-p21	UniSTS
Cytogenetic Map	15	q11.2	UniSTS
Cytogenetic Map	15	q26.3	UniSTS
Cytogenetic Map	7	p22	UniSTS
Cytogenetic Map	12	p11	UniSTS
Cytogenetic Map	1	p35.3	UniSTS
Cytogenetic Map	1	p12	UniSTS
Cytogenetic Map	13	q32.3	UniSTS
Cytogenetic Map	5	q23.3	UniSTS
Cytogenetic Map	20	q13	UniSTS
Cytogenetic Map	17	q25.2	UniSTS
Cytogenetic Map	7	q36.1	UniSTS
Cytogenetic Map	10	p12.33	UniSTS
Cytogenetic Map	17	q21.32	UniSTS
Cytogenetic Map	X	p11.22	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	X	q25-q26	UniSTS
Cytogenetic Map	2	q36.1	UniSTS
Cytogenetic Map	5	p13	UniSTS
Cytogenetic Map	15	q25	UniSTS
Cytogenetic Map	5	q12.1	UniSTS
Cytogenetic Map	5	p12	UniSTS
Cytogenetic Map	1	p36.22	UniSTS
Cytogenetic Map	3	q26.31	UniSTS
Cytogenetic Map	17	q22-q23	UniSTS
Cytogenetic Map	X	p22.33	UniSTS
Cytogenetic Map	Y	p11.3	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	X	q13.2	UniSTS
Cytogenetic Map	12	q23.1	UniSTS
Cytogenetic Map	16	q12.2	UniSTS
Cytogenetic Map	3	q26.32	UniSTS
Cytogenetic Map	6	q22.31	UniSTS
Cytogenetic Map	3	q26.2-q27	UniSTS
Cytogenetic Map	1	q25.1-q25.2	UniSTS
Cytogenetic Map	14	q24	UniSTS
Cytogenetic Map	9	q21.13	UniSTS
Cytogenetic Map	10	q11.22	UniSTS
Cytogenetic Map	22	q13.31	UniSTS
Cytogenetic Map	3	p25.1	UniSTS
Cytogenetic Map	5	q21.3	UniSTS
Cytogenetic Map	5	p13.3	UniSTS
Cytogenetic Map	10	q22.1	UniSTS
Cytogenetic Map	14	q12-q13	UniSTS
Cytogenetic Map	X	p22	UniSTS
Cytogenetic Map	X	q23	UniSTS
Cytogenetic Map	20	p12.3-p11.21	UniSTS
Cytogenetic Map	2	p21	UniSTS
Cytogenetic Map	17	q11.2-q12	UniSTS
Cytogenetic Map	4	q32-q34	UniSTS
Cytogenetic Map	X	q25-q26.1	UniSTS
Cytogenetic Map	2	p25-p24	UniSTS
Cytogenetic Map	2	p25	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	X	p22.2-p22.1	UniSTS
Cytogenetic Map	X	q22.1	UniSTS
Cytogenetic Map	4	q25	UniSTS
Cytogenetic Map	3	p24.2	UniSTS
Cytogenetic Map	22	q13	UniSTS
Cytogenetic Map	20	q11.22-q12	UniSTS
Cytogenetic Map	4	q34.2	UniSTS
Cytogenetic Map	20	p13	UniSTS
Cytogenetic Map	22	q13.1-q13.2	UniSTS
Cytogenetic Map	X	q28	UniSTS
Cytogenetic Map	12	q13-q14	UniSTS
Cytogenetic Map	6	q14.1	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	9	q31.2	UniSTS
Cytogenetic Map	11	q13.1-q13.2	UniSTS
Cytogenetic Map	12	q13	UniSTS
Cytogenetic Map	1	p32-p31	UniSTS
Cytogenetic Map	21	q21.2	UniSTS
Cytogenetic Map	10	q24.3	UniSTS
Cytogenetic Map	16	q21	UniSTS
Cytogenetic Map	8	q21.1	UniSTS
Cytogenetic Map	5	p13.2	UniSTS
Cytogenetic Map	1	p34	UniSTS
Cytogenetic Map	1	q32.2	UniSTS
Cytogenetic Map	4	q21.3	UniSTS
Cytogenetic Map	7	q21-q22	UniSTS
Cytogenetic Map	3	q26.2	UniSTS
Cytogenetic Map	2	q36.3	UniSTS
Cytogenetic Map	8	p22	UniSTS
Cytogenetic Map	11	q22.1	UniSTS
Cytogenetic Map	3	q25.33	UniSTS
Cytogenetic Map	10	q23.31	UniSTS
Cytogenetic Map	4	p15.32	UniSTS
Cytogenetic Map	18	q12.2	UniSTS
Cytogenetic Map	15	q15.2	UniSTS
Cytogenetic Map	5	q12.3	UniSTS
Cytogenetic Map	14	q24.1	UniSTS
Cytogenetic Map	12	q14.1	UniSTS
Cytogenetic Map	6	p22.3-p22.1	UniSTS
Cytogenetic Map	7	p11.2	UniSTS
Cytogenetic Map	6	q15	UniSTS
Cytogenetic Map	6	q23.3	UniSTS
Cytogenetic Map	13	q14	UniSTS
Cytogenetic Map	5	q35.2	UniSTS
Cytogenetic Map	10	q22.3	UniSTS
Cytogenetic Map	1	p35	UniSTS
Cytogenetic Map	3	q12.3	UniSTS
Cytogenetic Map	19	q13.31	UniSTS
Cytogenetic Map	8	q23.1	UniSTS
Cytogenetic Map	6	q27	UniSTS
Cytogenetic Map	2	q14.3	UniSTS
Cytogenetic Map	X	p11	UniSTS
Cytogenetic Map	11	p15.3	UniSTS
Cytogenetic Map	20	p12	UniSTS
Cytogenetic Map	15	q13.1	UniSTS
Cytogenetic Map	X	p22.3	UniSTS
Cytogenetic Map	11	q13.5	UniSTS
Cytogenetic Map	19	p13.3-p13.2	UniSTS
Cytogenetic Map	1	p36.11-p34.2	UniSTS
Cytogenetic Map	4	q22.1-q23	UniSTS
Cytogenetic Map	7	q22.3	UniSTS
Cytogenetic Map	9	p22	UniSTS
Cytogenetic Map	17	q23.3	UniSTS
Cytogenetic Map	16	q23.2	UniSTS
Cytogenetic Map	2	p16.1	UniSTS
Cytogenetic Map	3	q27.1	UniSTS
Cytogenetic Map	2	p22.3	UniSTS
Cytogenetic Map	X	q26.1	UniSTS
Cytogenetic Map	4	q21.21	UniSTS
Cytogenetic Map	22	q13.3	UniSTS
Cytogenetic Map	2	q32.1	UniSTS
Cytogenetic Map	Y	p11.32	UniSTS
Cytogenetic Map	11	p14	UniSTS
Cytogenetic Map	1	p32.1	UniSTS
Cytogenetic Map	2	p25.3	UniSTS
Cytogenetic Map	4	q34.3	UniSTS
Cytogenetic Map	9	p12	UniSTS
Cytogenetic Map	3	q13.13	UniSTS
Cytogenetic Map	13	q34	UniSTS
Cytogenetic Map	3	p21	UniSTS
Cytogenetic Map	11	q23.2	UniSTS
Cytogenetic Map	20	p11.23	UniSTS
Cytogenetic Map	3	p13	UniSTS
Cytogenetic Map	4	p13	UniSTS
Cytogenetic Map	16	q23.1	UniSTS
Cytogenetic Map	10	p11.23	UniSTS
Cytogenetic Map	8	p21.1	UniSTS
Cytogenetic Map	15	q22-q24	UniSTS
Cytogenetic Map	8	q23	UniSTS
Cytogenetic Map	16	q12.1	UniSTS
Cytogenetic Map	14	q13.2	UniSTS
Cytogenetic Map	18	q12.1	UniSTS
Cytogenetic Map	5	q31.3	UniSTS
Cytogenetic Map	11	q14	UniSTS
Cytogenetic Map	13	q33.1	UniSTS
Cytogenetic Map	14	q21.2	UniSTS
Cytogenetic Map	4	q31.3	UniSTS
Cytogenetic Map	15	q21-q22	UniSTS
Cytogenetic Map	3	p14.3	UniSTS
Cytogenetic Map	17	p13.1	UniSTS
Cytogenetic Map	13	q12.11	UniSTS
Cytogenetic Map	6	p21.2	UniSTS
Cytogenetic Map	15	q21.3	UniSTS
Cytogenetic Map	3	q21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
Cytogenetic Map	10	p15.1	UniSTS
Cytogenetic Map	1	q24.2	UniSTS
Cytogenetic Map	12	p12	UniSTS
Cytogenetic Map	7	p22.1	UniSTS
Cytogenetic Map	11	q24	UniSTS
Cytogenetic Map	21	q22.13	UniSTS
Cytogenetic Map	15	q22.1-q22.31	UniSTS
Cytogenetic Map	15	q22	UniSTS
Cytogenetic Map	X	q13	UniSTS
Cytogenetic Map	1	q31-q41	UniSTS
Cytogenetic Map	6	p25	UniSTS
Cytogenetic Map	14	q32.1	UniSTS
Cytogenetic Map	16	q12-q13	UniSTS
Cytogenetic Map	X	q12-q13	UniSTS
Cytogenetic Map	14	q23	UniSTS
Cytogenetic Map	12	q11-q12	UniSTS
Cytogenetic Map	1	q42.1-q43	UniSTS
Cytogenetic Map	3	q13.33	UniSTS
Cytogenetic Map	7	q31	UniSTS
Cytogenetic Map	12	q24	UniSTS
Cytogenetic Map	X	p22.11	UniSTS
Cytogenetic Map	11	q13.4	UniSTS
Cytogenetic Map	2	p25.1-p24.1	UniSTS
Cytogenetic Map	8	q24.21	UniSTS
Cytogenetic Map	12	q13.1	UniSTS
Cytogenetic Map	12	q22-q23.1	UniSTS
Cytogenetic Map	11	q12.2	UniSTS
Cytogenetic Map	1	p13.2	UniSTS
Cytogenetic Map	5	q31.2-q34	UniSTS
Cytogenetic Map	11	p15.1	UniSTS
Cytogenetic Map	6	q24.2	UniSTS
Cytogenetic Map	22	q	UniSTS
Cytogenetic Map	12	q13.11-q14.3	UniSTS
Cytogenetic Map	7	p11	UniSTS
Cytogenetic Map	X	p22.12-p22.11	UniSTS
Cytogenetic Map	7	q11.21	UniSTS
Cytogenetic Map	20	q11.22-q11.23	UniSTS
Cytogenetic Map	8	q24.22	UniSTS
Cytogenetic Map	8	p22-p21.3	UniSTS
Cytogenetic Map	10	q24	UniSTS
Cytogenetic Map	1	q21.2-q21.3	UniSTS
Cytogenetic Map	1	p36.12	UniSTS
Cytogenetic Map	9	p24.1	UniSTS
Cytogenetic Map	6	q25.2-q27	UniSTS
Cytogenetic Map	9	q34	UniSTS
Cytogenetic Map	5	p13.1	UniSTS
Cytogenetic Map	8	q11.2	UniSTS
Cytogenetic Map	3	q28-q29	UniSTS
Cytogenetic Map	7	p14-p13	UniSTS
Cytogenetic Map	12	q24.2	UniSTS
Cytogenetic Map	6	p22.2	UniSTS
Cytogenetic Map	7	q22-qter	UniSTS
Cytogenetic Map	12	q24.2-q24.31	UniSTS
Cytogenetic Map	X	q13.1	UniSTS
Cytogenetic Map	6	p25.2	UniSTS
Cytogenetic Map	1	p21	UniSTS
Cytogenetic Map	1	q32.2-q41	UniSTS
Cytogenetic Map	11	q22-q23	UniSTS
Cytogenetic Map	3	q26.33	UniSTS
Cytogenetic Map	12	q23-q24.1	UniSTS
Cytogenetic Map	5	p15.1-p14.3	UniSTS
Cytogenetic Map	16	p13.11	UniSTS
Cytogenetic Map	6	q22-q23	UniSTS
Cytogenetic Map	9	p21	UniSTS
Cytogenetic Map	6	p12.3	UniSTS
Cytogenetic Map	3	p12.1	UniSTS
Cytogenetic Map	9	q21.11	UniSTS
Cytogenetic Map	17	q24.1	UniSTS
Cytogenetic Map	10	q11.21	UniSTS
Cytogenetic Map	14	q21	UniSTS
Cytogenetic Map	11	p15	UniSTS
Cytogenetic Map	16	q22	UniSTS
Cytogenetic Map	15	q11-q13	UniSTS
Cytogenetic Map	13	q12-q14	UniSTS
Cytogenetic Map	18	q21.1	UniSTS
Cytogenetic Map	2	q24	UniSTS
Cytogenetic Map	12	p13	UniSTS
Cytogenetic Map	3	q28	UniSTS
Cytogenetic Map	7	q32.1	UniSTS
Cytogenetic Map	X	q22.2	UniSTS
Cytogenetic Map	7	p12.3	UniSTS
Cytogenetic Map	7	p15.1	UniSTS
Cytogenetic Map	2	q37.2	UniSTS
Cytogenetic Map	18	q22.3	UniSTS
Cytogenetic Map	14	q32.13	UniSTS
Cytogenetic Map	14	q22.1	UniSTS
Cytogenetic Map	16	p13.1	UniSTS
Cytogenetic Map	7	q31.3	UniSTS
Cytogenetic Map	20	q13.2-q13.3	UniSTS
Cytogenetic Map	1	p21.2	UniSTS
Cytogenetic Map	9	q21.33	UniSTS
Cytogenetic Map	14	q32.2	UniSTS
Cytogenetic Map	13	q13.3	UniSTS
Cytogenetic Map	10	p12.31	UniSTS
Cytogenetic Map	22	q11.1	UniSTS
Cytogenetic Map	5	q33.2	UniSTS
Cytogenetic Map	13	q32.2	UniSTS
Cytogenetic Map	14	q23.1	UniSTS
Cytogenetic Map	8	q21.2	UniSTS
Cytogenetic Map	2	q24.1	UniSTS
Cytogenetic Map	10	q26.13	UniSTS
Cytogenetic Map	2	q23.3	UniSTS
Cytogenetic Map	19	p13.1	UniSTS
Cytogenetic Map	15	q14-q15	UniSTS
Cytogenetic Map	1	q42.13	UniSTS
Cytogenetic Map	14	q31	UniSTS
Cytogenetic Map	7	p21.1	UniSTS
Cytogenetic Map	8	p12-p11	UniSTS
Cytogenetic Map	18	p11.2	UniSTS
Cytogenetic Map	7	p11.1	UniSTS
Cytogenetic Map	1	q31-q32	UniSTS
Cytogenetic Map	2	q12	UniSTS
Cytogenetic Map	3	p21.32	UniSTS
Cytogenetic Map	2	p24.2	UniSTS
Cytogenetic Map	2	q33-q34	UniSTS
Cytogenetic Map	6	q24.1	UniSTS
Cytogenetic Map	4	q22.1	UniSTS
Cytogenetic Map	15	q13.3	UniSTS
Cytogenetic Map	10	q26.11	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
Cytogenetic Map	10	q23.33	UniSTS
Cytogenetic Map	12	p12.1	UniSTS
Cytogenetic Map	7	p13-p12	UniSTS
Cytogenetic Map	X	q25	UniSTS
Cytogenetic Map	17	q11-q21	UniSTS
Cytogenetic Map	12	q23	UniSTS
Cytogenetic Map	6	p24-p22.3	UniSTS
Cytogenetic Map	14	q23.2	UniSTS
Cytogenetic Map	7	q31.1-q31.2	UniSTS
Cytogenetic Map	8	q22.2	UniSTS
Cytogenetic Map	15	q21.2	UniSTS
Cytogenetic Map	3	p26.1-p25.1	UniSTS
Cytogenetic Map	5	q35	UniSTS
Cytogenetic Map	3	q13.2	UniSTS
Cytogenetic Map	4	p15.2	UniSTS
Cytogenetic Map	6	q16.3	UniSTS
Cytogenetic Map	17	q24-q25	UniSTS
Cytogenetic Map	X	q12	UniSTS
Cytogenetic Map	X	q27.1	UniSTS
Cytogenetic Map	8	q12.3	UniSTS
Cytogenetic Map	5	q21.2	UniSTS
Cytogenetic Map	5	q15	UniSTS
Cytogenetic Map	5	q35.1	UniSTS
Cytogenetic Map	4	q13.3	UniSTS
Cytogenetic Map	4	q35.2	UniSTS
Cytogenetic Map	3	p26.1	UniSTS
Cytogenetic Map	3	p11.1	UniSTS
Cytogenetic Map	17	q21.2	UniSTS
Cytogenetic Map	2	q21.2	UniSTS
Cytogenetic Map	19	p13.13	UniSTS
Cytogenetic Map	18	q12.3	UniSTS
Cytogenetic Map	18	p11.3	UniSTS
Cytogenetic Map	17	q11.1	UniSTS
Cytogenetic Map	15	q25.1	UniSTS
Cytogenetic Map	13	q12.3	UniSTS
Cytogenetic Map	12	q23.2	UniSTS
Cytogenetic Map	12	q12-q13	UniSTS
Cytogenetic Map	12	q14	UniSTS
Cytogenetic Map	5	q33.1	UniSTS
Cytogenetic Map	2	q32-q34	UniSTS
Cytogenetic Map	16	q22.3	UniSTS
Cytogenetic Map	2	p15-p13	UniSTS
Cytogenetic Map	X	p11.4	UniSTS
Cytogenetic Map	19	q13.33-q13.41	UniSTS
Cytogenetic Map	20	p11	UniSTS
Cytogenetic Map	6	q23-q24	UniSTS
Cytogenetic Map	2	p12	UniSTS
Cytogenetic Map	2	p13	UniSTS
Cytogenetic Map	13	q11-q12	UniSTS
Cytogenetic Map	6	p12.3-p11.2	UniSTS
Cytogenetic Map	6	q16.1-q16.3	UniSTS
Cytogenetic Map	22	q11	UniSTS
Cytogenetic Map	7	q31.2	UniSTS
Cytogenetic Map	10	q21.3	UniSTS
Cytogenetic Map	3	q25.2	UniSTS
Cytogenetic Map	3	p21.1-p14.3	UniSTS
Cytogenetic Map	6	p12.1	UniSTS
Cytogenetic Map	3	q23-q24	UniSTS
Cytogenetic Map	3	q12	UniSTS
Cytogenetic Map	7	q11.1	UniSTS
Cytogenetic Map	3	q22.3	UniSTS
Cytogenetic Map	7	q21.3	UniSTS
Cytogenetic Map	4	q31.1	UniSTS
Cytogenetic Map	22	q12-q13	UniSTS
Cytogenetic Map	4	q23	UniSTS
Cytogenetic Map	X	p22.12	UniSTS
Cytogenetic Map	6	q16.1	UniSTS
Cytogenetic Map	13	q14.13	UniSTS
Cytogenetic Map	18	q21.3	UniSTS
Cytogenetic Map	9	q33.2	UniSTS
Cytogenetic Map	11	q21	UniSTS
Cytogenetic Map	8	q12	UniSTS
Cytogenetic Map	4	q28-q32	UniSTS
Cytogenetic Map	17	q24.3	UniSTS
Cytogenetic Map	6	p23	UniSTS
Cytogenetic Map	8	p11	UniSTS
Cytogenetic Map	5	q34	UniSTS
Cytogenetic Map	1	q24.3	UniSTS
Cytogenetic Map	9	q33.1	UniSTS
Cytogenetic Map	1	q23.3	UniSTS
Cytogenetic Map	2	p16.2	UniSTS
Cytogenetic Map	9	q22.31	UniSTS
Cytogenetic Map	9	p24.3	UniSTS
Cytogenetic Map	7	q35	UniSTS
Cytogenetic Map	1	p36.2	UniSTS
Cytogenetic Map	11	q22.3	UniSTS
Cytogenetic Map	16	p12	UniSTS
Cytogenetic Map	1	q22-q23	UniSTS
Cytogenetic Map	13	q22.1	UniSTS
Cytogenetic Map	2	q12.2	UniSTS
Cytogenetic Map	8	p12	UniSTS
Cytogenetic Map	4	q21	UniSTS
Cytogenetic Map	13	q12.2	UniSTS
Cytogenetic Map	9	q31-q33	UniSTS
Cytogenetic Map	6	p24.1	UniSTS
Cytogenetic Map	1	q23	UniSTS
Cytogenetic Map	11	q12-q13	UniSTS
Cytogenetic Map	11	q13.3	UniSTS
Cytogenetic Map	11	q24.2	UniSTS
Cytogenetic Map	11	q12.1	UniSTS
Cytogenetic Map	3	p26	UniSTS
Cytogenetic Map	5	q13	UniSTS
Cytogenetic Map	8	p21	UniSTS
Cytogenetic Map	19	q13.1-q13.2	UniSTS
Cytogenetic Map	1	p33-p32	UniSTS
Cytogenetic Map	7	q36.2	UniSTS
Cytogenetic Map	4	q32.3	UniSTS
Cytogenetic Map	16	p13.2	UniSTS
Cytogenetic Map	14	q32	UniSTS
Cytogenetic Map	10	q11.23	UniSTS
Cytogenetic Map	10	q26.1	UniSTS
Cytogenetic Map	9	q32-q33.3	UniSTS
Cytogenetic Map	9	q22.1-q22.2	UniSTS
Cytogenetic Map	3	q26.1-q26.2	UniSTS
Cytogenetic Map	5	q31-q34	UniSTS
Cytogenetic Map	9	q33-q34	UniSTS
Cytogenetic Map	5	q11.2-q13.2	UniSTS
Cytogenetic Map	13	q32	UniSTS
Cytogenetic Map	9	q22.32	UniSTS
Cytogenetic Map	1	p36.3	UniSTS
Cytogenetic Map	1	p36.3-p36.2	UniSTS
Cytogenetic Map	4	q28.1	UniSTS
Cytogenetic Map	5	q22	UniSTS
Cytogenetic Map	12	p11.21	UniSTS
Cytogenetic Map	X	q13.3	UniSTS
Cytogenetic Map	9	q31.3	UniSTS
Cytogenetic Map	3	p26.3	UniSTS
Cytogenetic Map	2	q11.1	UniSTS
Cytogenetic Map	21	q11.2	UniSTS
Cytogenetic Map	18	q21.32	UniSTS
Cytogenetic Map	15	q26.2	UniSTS
Cytogenetic Map	12	q24.23	UniSTS
Cytogenetic Map	10	q25.3	UniSTS
Cytogenetic Map	20	q11.23	UniSTS
Cytogenetic Map	20	p12.1	UniSTS
Cytogenetic Map	2	q31.1-q31.2	UniSTS
Cytogenetic Map	X	p22.31	UniSTS
Cytogenetic Map	X	p21.3	UniSTS
Cytogenetic Map	5	q33.3	UniSTS
Cytogenetic Map	4	q28.2	UniSTS
Cytogenetic Map	3	p14.2	UniSTS
Cytogenetic Map	3	q24	UniSTS
Cytogenetic Map	2	q13	UniSTS
Cytogenetic Map	20	q13.2	UniSTS
Cytogenetic Map	14	q11.2-q12	UniSTS
Cytogenetic Map	3	p24	UniSTS
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	11	q24.3	UniSTS
Cytogenetic Map	11	q14.3	UniSTS
Cytogenetic Map	10	q25.2	UniSTS
Cytogenetic Map	3	q25.1	UniSTS
Cytogenetic Map	8	q13	UniSTS
Cytogenetic Map	1	p22.2	UniSTS
Cytogenetic Map	3	p22.3	UniSTS
Cytogenetic Map	18	q11.1	UniSTS
Cytogenetic Map	8	q23.3	UniSTS
Cytogenetic Map	15	q24	UniSTS
Cytogenetic Map	11	cen-q12	UniSTS
Cytogenetic Map	11	q25	UniSTS
Cytogenetic Map	3	p22.2	UniSTS
Cytogenetic Map	X	p21.1	UniSTS
Cytogenetic Map	7	q36	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	12	q21	UniSTS
Cytogenetic Map	7	p15	UniSTS
Cytogenetic Map	7	q22-q31	UniSTS
Cytogenetic Map	11	q22	UniSTS
Cytogenetic Map	5	p15.3	UniSTS
Cytogenetic Map	20	q13.3-qter	UniSTS
Cytogenetic Map	1	p35-p34	UniSTS
Cytogenetic Map	4	p13-p12	UniSTS
Cytogenetic Map	10	q21-q22	UniSTS
Cytogenetic Map	4	q22	UniSTS
Cytogenetic Map	7	p13-p11.1	UniSTS
Cytogenetic Map	9	q31-q34	UniSTS
Cytogenetic Map	7	q21.1-q22	UniSTS
Cytogenetic Map	15	q26.1	UniSTS
Cytogenetic Map	3	q13.13-q13.2	UniSTS
Cytogenetic Map	X	p22.13	UniSTS
Cytogenetic Map	13	q12.12	UniSTS
Cytogenetic Map	13	q14.2	UniSTS
Cytogenetic Map	12	q	UniSTS
Cytogenetic Map	1	p	UniSTS
Cytogenetic Map	16	p	UniSTS
Cytogenetic Map	15	q	UniSTS
Cytogenetic Map	7	q	UniSTS
Cytogenetic Map	2	q	UniSTS
Cytogenetic Map	5	q13.1	UniSTS
Cytogenetic Map	11	p14.1	UniSTS
Cytogenetic Map	4	q32	UniSTS
Cytogenetic Map	2	p22	UniSTS
Cytogenetic Map	5	q14.3	UniSTS
Cytogenetic Map	10	p12.1	UniSTS
Cytogenetic Map	5	q23.2	UniSTS
Cytogenetic Map	2	p24.1	UniSTS
Cytogenetic Map	8	q24.13	UniSTS
Cytogenetic Map	12	p13.32	UniSTS
Cytogenetic Map	9	p21.1	UniSTS
Cytogenetic Map	9	q34.2-q34.3	UniSTS

G42694

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

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4973	1726	2351	6	624	1951	465	2269	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_009161	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003334	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_153280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005272649	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011543954	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029777	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029778	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029779	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029780	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029781	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047442420	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047442421	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047442422	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047442423	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047442424	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047442425	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327687	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327688	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327689	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327690	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327691	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327692	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327693	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327694	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327695	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327696	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF258566	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ003111	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK097343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK131341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293161	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL513366	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009900	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013041	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC020261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG703038	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI547207	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471164	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM005603	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M58028	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X52897	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X56976	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000335972 ⟹ ENSP00000338413

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	47,193,829 - 47,215,128 (+)	Ensembl

Ensembl Acc Id:

ENST00000377269 ⟹ ENSP00000366481

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	47,208,562 - 47,215,126 (+)	Ensembl

Ensembl Acc Id:

ENST00000377351 ⟹ ENSP00000366568

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	47,190,861 - 47,215,128 (+)	Ensembl

Ensembl Acc Id:

ENST00000412206 ⟹ ENSP00000415033

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	47,191,399 - 47,201,611 (+)	Ensembl

Ensembl Acc Id:

ENST00000427561 ⟹ ENSP00000397816

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	47,191,423 - 47,199,613 (+)	Ensembl

Ensembl Acc Id:

ENST00000442035 ⟹ ENSP00000389583

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	47,193,829 - 47,201,610 (+)	Ensembl

Ensembl Acc Id:

ENST00000451702 ⟹ ENSP00000401101

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	47,197,199 - 47,200,962 (+)	Ensembl

Ensembl Acc Id:

ENST00000457753 ⟹ ENSP00000404796

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	47,193,837 - 47,199,566 (+)	Ensembl

Ensembl Acc Id:

ENST00000490869

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	47,202,693 - 47,206,664 (+)	Ensembl

RefSeq Acc Id:

NM_003334 ⟹ NP_003325

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	47,193,829 - 47,215,128 (+)	NCBI
GRCh37	X	47,050,199 - 47,074,527 (+)	ENTREZGENE
GRCh37	X	47,050,199 - 47,074,527 (+)	NCBI
Build 36	X	46,938,239 - 46,959,470 (+)	NCBI Archive
HuRef	X	44,761,319 - 44,784,789 (+)	ENTREZGENE
CHM1_1	X	47,084,688 - 47,106,022 (+)	NCBI
T2T-CHM13v2.0	X	46,603,525 - 46,624,827 (+)	NCBI

Sequence:

show sequence

ATCTTGTGTCGGCGGCTCGGCTGTAAGGAGGTGGCAGGGACAACCACAACCACAACGGCCGGGG
GAGGAGAAGGCGGCAGCGGCGATTCTAGGCGGCCCAGGCGGCGGGGAGGAGGAGAAGGAGGAGG
GTGGCGGCCGGGCTTGGCTTCGGCTCCTTGAGGAGTTGGCGGCGGCGCGACCCGGGGAACCGGC
ATTGATGTCCAGCTCGCCGCTGTCCAAGAAACGTCGCGTGTCCGGGCCTGATCCAAAGCCGGGT
TCTAACTGCTCCCCTGCCCAGTCCGTGTTGTCCGAAGTGCCCTCGGTGCCAACCAACGGAATGG
CCAAGAACGGCAGTGAAGCAGACATAGACGAGGGCCTTTACTCCCGGCAGCTGTATGTGTTGGG
CCATGAGGCAATGAAGCGGCTCCAGACATCCAGTGTCCTGGTATCAGGCCTGCGGGGCCTGGGC
GTGGAGATCGCTAAGAACATCATCCTTGGTGGGGTCAAGGCTGTTACCCTACATGACCAGGGCA
CTGCCCAGTGGGCTGATCTTTCCTCCCAGTTCTACCTGCGGGAGGAGGACATCGGTAAAAACCG
GGCCGAGGTATCACAGCCCCGCCTCGCTGAGCTCAACAGCTATGTGCCTGTCACTGCCTACACT
GGACCCCTCGTTGAGGACTTCCTTAGTGGTTTCCAGGTGGTGGTGCTCACCAACACCCCCCTGG
AGGACCAGCTGCGAGTGGGTGAGTTCTGTCACAACCGTGGCATCAAGCTGGTGGTGGCAGACAC
GCGGGGCCTGTTTGGGCAGCTCTTCTGTGACTTTGGAGAGGAAATGATCCTCACAGATTCCAAT
GGGGAGCAGCCACTCAGTGCTATGGTTTCTATGGTTACCAAGGACAACCCCGGTGTGGTTACCT
GCCTGGATGAGGCCCGACACGGGTTTGAGAGCGGGGACTTTGTCTCCTTTTCAGAAGTACAGGG
CATGGTTGAACTCAACGGAAATCAGCCCATGGAGATCAAAGTCCTGGGTCCTTATACCTTTAGC
ATCTGTGACACCTCCAACTTCTCCGACTACATCCGTGGAGGCATCGTCAGTCAGGTCAAAGTAC
CTAAGAAGATTAGCTTTAAATCCTTGGTGGCCTCACTGGCAGAACCTGACTTTGTGGTGACGGA
CTTCGCCAAGTTTTCTCGCCCTGCCCAGCTGCACATTGGCTTCCAGGCCCTGCACCAGTTCTGT
GCTCAGCATGGCCGGCCACCTCGGCCCCGCAATGAGGAGGATGCAGCAGAACTGGTAGCCTTAG
CACAGGCTGTGAATGCTCGAGCCCTGCCAGCAGTGCAGCAAAATAACCTGGACGAGGACCTCAT
CCGGAAGCTGGCATATGTGGCTGCTGGGGATCTGGCACCCATAAACGCCTTCATTGGGGGCCTG
GCTGCCCAGGAAGTCATGAAGGCCTGCTCCGGGAAGTTCATGCCCATCATGCAGTGGCTATACT
TTGATGCCCTTGAGTGTCTCCCTGAGGACAAAGAGGTCCTCACAGAGGACAAGTGCCTCCAGCG
CCAGAACCGTTATGACGGGCAAGTGGCTGTGTTTGGCTCAGACCTGCAAGAGAAGCTGGGCAAG
CAGAAGTATTTCCTGGTGGGTGCGGGGGCCATTGGCTGTGAGCTGCTCAAGAACTTTGCCATGA
TTGGGCTGGGCTGCGGGGAGGGTGGAGAAATCATCGTTACAGACATGGACACCATTGAGAAGTC
AAATCTGAATCGACAGTTTCTTTTCCGGCCCTGGGATGTCACGAAGTTAAAGTCTGACACGGCT
GCTGCAGCTGTGCGCCAAATGAATCCACATATCCGGGTGACAAGCCACCAGAACCGTGTGGGTC
CTGACACGGAGCGCATCTATGATGACGATTTTTTCCAAAACCTAGATGGCGTGGCCAATGCCCT
GGACAACGTGGATGCCCGCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGCTG
GAGTCAGGCACACTGGGCACCAAAGGCAATGTGCAGGTGGTGATCCCCTTCCTGACAGAGTCGT
ACAGTTCCAGCCAGGACCCACCTGAGAAGTCCATCCCCATCTGTACCCTGAAGAACTTCCCTAA
TGCCATCGAGCACACCCTGCAGTGGGCTCGGGATGAGTTTGAAGGCCTCTTCAAGCAGCCAGCA
GAAAATGTCAACCAGTACCTCACAGACCCCAAGTTTGTGGAGCGAACACTGCGGCTGGCAGGCA
CTCAGCCCTTGGAGGTGCTGGAGGCTGTGCAGCGCAGCCTGGTGCTGCAGCGACCACAGACCTG
GGCTGACTGCGTGACCTGGGCCTGCCACCACTGGCACACCCAGTACTCGAACAACATCCGGCAG
CTGCTGCACAACTTCCCTCCTGACCAGCTCACAAGCTCAGGAGCGCCGTTCTGGTCTGGGCCCA
AACGCTGTCCACACCCGCTCACCTTTGATGTCAACAATCCCCTGCATCTGGACTATGTGATGGC
TGCTGCCAACCTGTTTGCCCAGACCTACGGGCTGACAGGCTCTCAGGACCGAGCTGCTGTGGCC
ACATTCCTGCAGTCTGTGCAGGTCCCCGAATTCACCCCCAAGTCTGGCGTCAAGATCCATGTTT
CTGACCAGGAGCTGCAGAGCGCCAATGCCTCTGTTGATGACAGTCGTCTAGAGGAGCTCAAAGC
CACTCTGCCCAGCCCAGACAAGCTCCCTGGATTCAAGATGTACCCCATTGACTTTGAGAAGGAT
GATGACAGCAACTTTCATATGGATTTCATCGTGGCTGCATCCAACCTCCGGGCAGAAAACTATG
ACATTCCTTCTGCAGACCGGCACAAGAGCAAGCTGATTGCAGGGAAGATCATCCCAGCCATTGC
CACGACCACAGCAGCCGTGGTTGGCCTTGTGTGTCTGGAGCTGTACAAGGTTGTGCAGGGGCAC
CGACAGCTTGACTCCTACAAGAATGGTTTCCTCAACTTGGCCCTGCCTTTCTTTGGTTTCTCTG
AACCCCTTGCCGCACCACGTCACCAGTACTATAACCAAGAGTGGACATTGTGGGATCGCTTTGA
GGTACAAGGGCTGCAGCCTAATGGTGAGGAGATGACCCTCAAACAGTTCCTCGACTATTTTAAG
ACAGAGCACAAATTAGAGATCACCATGCTGTCCCAGGGCGTGTCCATGCTCTATTCCTTCTTCA
TGCCAGCTGCCAAGCTCAAGGAACGGTTGGATCAGCCGATGACAGAGATTGTGAGCCGTGTGTC
GAAGCGAAAGCTGGGCCGCCACGTGCGGGCGCTGGTGCTTGAGCTGTGCTGTAACGACGAGAGC
GGCGAGGATGTCGAGGTTCCCTATGTCCGATACACCATCCGCTGACCCCGTCTGCTCCTCTAGG
CTGGCCCCTTGTCCACCCCTCTCCACACCCCTTCCAGCCCAGGGTTCCCATTTGGCTTCTGGCA
GTGGCCCAACTAGCCAAGTCTGGTGTTCCCTCATCATCCCCCTACCTGAACCCCTCTTGCCACT
GCCTTCTACCTTGTTTGAAACCTGAATCCTAATAAAGAATTAATAACTCCCA

hide sequence

RefSeq Acc Id:

NM_153280 ⟹ NP_695012

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	47,190,847 - 47,215,128 (+)	NCBI
GRCh37	X	47,050,199 - 47,074,527 (+)	ENTREZGENE
GRCh37	X	47,050,199 - 47,074,527 (+)	NCBI
Build 36	X	46,935,204 - 46,959,471 (+)	NCBI Archive
HuRef	X	44,761,319 - 44,784,789 (+)	ENTREZGENE
CHM1_1	X	47,081,686 - 47,106,022 (+)	NCBI
T2T-CHM13v2.0	X	46,600,543 - 46,624,827 (+)	NCBI

Sequence:

show sequence

AAACTCTGGCTTCTCTTGTACGACAGAGGTGGTTTGCTCTTCCGTTGCCCCGTGGCTTCAGCTC
ATCTTTGGCAGGAAGGCGAGGCTTCCGCCCGGCACAGGGGATGTCCAGCTCGCCGCTGTCCAAG
AAACGTCGCGTGTCCGGGCCTGATCCAAAGCCGGGTTCTAACTGCTCCCCTGCCCAGTCCGTGT
TGTCCGAAGTGCCCTCGGTGCCAACCAACGGAATGGCCAAGAACGGCAGTGAAGCAGACATAGA
CGAGGGCCTTTACTCCCGGCAGCTGTATGTGTTGGGCCATGAGGCAATGAAGCGGCTCCAGACA
TCCAGTGTCCTGGTATCAGGCCTGCGGGGCCTGGGCGTGGAGATCGCTAAGAACATCATCCTTG
GTGGGGTCAAGGCTGTTACCCTACATGACCAGGGCACTGCCCAGTGGGCTGATCTTTCCTCCCA
GTTCTACCTGCGGGAGGAGGACATCGGTAAAAACCGGGCCGAGGTATCACAGCCCCGCCTCGCT
GAGCTCAACAGCTATGTGCCTGTCACTGCCTACACTGGACCCCTCGTTGAGGACTTCCTTAGTG
GTTTCCAGGTGGTGGTGCTCACCAACACCCCCCTGGAGGACCAGCTGCGAGTGGGTGAGTTCTG
TCACAACCGTGGCATCAAGCTGGTGGTGGCAGACACGCGGGGCCTGTTTGGGCAGCTCTTCTGT
GACTTTGGAGAGGAAATGATCCTCACAGATTCCAATGGGGAGCAGCCACTCAGTGCTATGGTTT
CTATGGTTACCAAGGACAACCCCGGTGTGGTTACCTGCCTGGATGAGGCCCGACACGGGTTTGA
GAGCGGGGACTTTGTCTCCTTTTCAGAAGTACAGGGCATGGTTGAACTCAACGGAAATCAGCCC
ATGGAGATCAAAGTCCTGGGTCCTTATACCTTTAGCATCTGTGACACCTCCAACTTCTCCGACT
ACATCCGTGGAGGCATCGTCAGTCAGGTCAAAGTACCTAAGAAGATTAGCTTTAAATCCTTGGT
GGCCTCACTGGCAGAACCTGACTTTGTGGTGACGGACTTCGCCAAGTTTTCTCGCCCTGCCCAG
CTGCACATTGGCTTCCAGGCCCTGCACCAGTTCTGTGCTCAGCATGGCCGGCCACCTCGGCCCC
GCAATGAGGAGGATGCAGCAGAACTGGTAGCCTTAGCACAGGCTGTGAATGCTCGAGCCCTGCC
AGCAGTGCAGCAAAATAACCTGGACGAGGACCTCATCCGGAAGCTGGCATATGTGGCTGCTGGG
GATCTGGCACCCATAAACGCCTTCATTGGGGGCCTGGCTGCCCAGGAAGTCATGAAGGCCTGCT
CCGGGAAGTTCATGCCCATCATGCAGTGGCTATACTTTGATGCCCTTGAGTGTCTCCCTGAGGA
CAAAGAGGTCCTCACAGAGGACAAGTGCCTCCAGCGCCAGAACCGTTATGACGGGCAAGTGGCT
GTGTTTGGCTCAGACCTGCAAGAGAAGCTGGGCAAGCAGAAGTATTTCCTGGTGGGTGCGGGGG
CCATTGGCTGTGAGCTGCTCAAGAACTTTGCCATGATTGGGCTGGGCTGCGGGGAGGGTGGAGA
AATCATCGTTACAGACATGGACACCATTGAGAAGTCAAATCTGAATCGACAGTTTCTTTTCCGG
CCCTGGGATGTCACGAAGTTAAAGTCTGACACGGCTGCTGCAGCTGTGCGCCAAATGAATCCAC
ATATCCGGGTGACAAGCCACCAGAACCGTGTGGGTCCTGACACGGAGCGCATCTATGATGACGA
TTTTTTCCAAAACCTAGATGGCGTGGCCAATGCCCTGGACAACGTGGATGCCCGCATGTACATG
GACCGCCGCTGTGTCTACTACCGGAAGCCACTGCTGGAGTCAGGCACACTGGGCACCAAAGGCA
ATGTGCAGGTGGTGATCCCCTTCCTGACAGAGTCGTACAGTTCCAGCCAGGACCCACCTGAGAA
GTCCATCCCCATCTGTACCCTGAAGAACTTCCCTAATGCCATCGAGCACACCCTGCAGTGGGCT
CGGGATGAGTTTGAAGGCCTCTTCAAGCAGCCAGCAGAAAATGTCAACCAGTACCTCACAGACC
CCAAGTTTGTGGAGCGAACACTGCGGCTGGCAGGCACTCAGCCCTTGGAGGTGCTGGAGGCTGT
GCAGCGCAGCCTGGTGCTGCAGCGACCACAGACCTGGGCTGACTGCGTGACCTGGGCCTGCCAC
CACTGGCACACCCAGTACTCGAACAACATCCGGCAGCTGCTGCACAACTTCCCTCCTGACCAGC
TCACAAGCTCAGGAGCGCCGTTCTGGTCTGGGCCCAAACGCTGTCCACACCCGCTCACCTTTGA
TGTCAACAATCCCCTGCATCTGGACTATGTGATGGCTGCTGCCAACCTGTTTGCCCAGACCTAC
GGGCTGACAGGCTCTCAGGACCGAGCTGCTGTGGCCACATTCCTGCAGTCTGTGCAGGTCCCCG
AATTCACCCCCAAGTCTGGCGTCAAGATCCATGTTTCTGACCAGGAGCTGCAGAGCGCCAATGC
CTCTGTTGATGACAGTCGTCTAGAGGAGCTCAAAGCCACTCTGCCCAGCCCAGACAAGCTCCCT
GGATTCAAGATGTACCCCATTGACTTTGAGAAGGATGATGACAGCAACTTTCATATGGATTTCA
TCGTGGCTGCATCCAACCTCCGGGCAGAAAACTATGACATTCCTTCTGCAGACCGGCACAAGAG
CAAGCTGATTGCAGGGAAGATCATCCCAGCCATTGCCACGACCACAGCAGCCGTGGTTGGCCTT
GTGTGTCTGGAGCTGTACAAGGTTGTGCAGGGGCACCGACAGCTTGACTCCTACAAGAATGGTT
TCCTCAACTTGGCCCTGCCTTTCTTTGGTTTCTCTGAACCCCTTGCCGCACCACGTCACCAGTA
CTATAACCAAGAGTGGACATTGTGGGATCGCTTTGAGGTACAAGGGCTGCAGCCTAATGGTGAG
GAGATGACCCTCAAACAGTTCCTCGACTATTTTAAGACAGAGCACAAATTAGAGATCACCATGC
TGTCCCAGGGCGTGTCCATGCTCTATTCCTTCTTCATGCCAGCTGCCAAGCTCAAGGAACGGTT
GGATCAGCCGATGACAGAGATTGTGAGCCGTGTGTCGAAGCGAAAGCTGGGCCGCCACGTGCGG
GCGCTGGTGCTTGAGCTGTGCTGTAACGACGAGAGCGGCGAGGATGTCGAGGTTCCCTATGTCC
GATACACCATCCGCTGACCCCGTCTGCTCCTCTAGGCTGGCCCCTTGTCCACCCCTCTCCACAC
CCCTTCCAGCCCAGGGTTCCCATTTGGCTTCTGGCAGTGGCCCAACTAGCCAAGTCTGGTGTTC
CCTCATCATCCCCCTACCTGAACCCCTCTTGCCACTGCCTTCTACCTTGTTTGAAACCTGAATC
CTAATAAAGAATTAATAACTCCCA

hide sequence

RefSeq Acc Id:

XM_005272649 ⟹ XP_005272706

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	47,193,829 - 47,215,128 (+)	NCBI

Sequence:

show sequence

TGGTTGTTAGTCTACCAACCACTCAACTTCATGCATAACTTATAATCAGGAAGCATGGCCTTAA
CGGTTTTTCTTCGCTTCCTTGACAGCCTGGCTGCAACAATTCATTCATTAGTCGCATTCCATGA
GGCGTGGCCTCTGTTTTACCTGTTTTCGTTGTTACTGCCACAATGTCCACCAGGTGGTGCTGTT
CCACTTCTAACCGAATGAATCGCAACCGAGTAGGGAACTTTATGCATGATTCATAAGTAGGCGC
GGCCCGCTTGCATCCGGGTTTCTGGGGGTGGGGCCCAAGGTTTTGTTCCGGCCCCAGGCTCAGC
GTCCGCCATCTTGTGTCGGCGGCTCGGCTGTAAGGAGGTGGCAGGGACAACCACAACCACAACG
GCCGGGGGAGGAGAAGGCGGCAGCGGCGATTCTAGGCGGCCCAGGCGGCGGGGAGGAGGAGAAG
GAGGAGGGTGGCGGCCGGGCTTGGCTTCGGCTCCTTGAGGAGTTGGCGGCGGCGCGACCCGGGG
AACCGGCATTGCAGCCCCTTGAAGACAGTTTCATTTGTCCCAGCTTTTGGAGAAAATGAGGCTC
AGAGGAAATGAGATCTCTACCCCAGATGTCCAGCTCGCCGCTGTCCAAGAAACGTCGCGTGTCC
GGGCCTGATCCAAAGCCGGGTTCTAACTGCTCCCCTGCCCAGTCCGTGTTGTCCGAAGTGCCCT
CGGTGCCAACCAACGGAATGGCCAAGAACGGCAGTGAAGCAGACATAGACGAGGGCCTTTACTC
CCGGCAGCTGTATGTGTTGGGCCATGAGGCAATGAAGCGGCTCCAGACATCCAGTGTCCTGGTA
TCAGGCCTGCGGGGCCTGGGCGTGGAGATCGCTAAGAACATCATCCTTGGTGGGGTCAAGGCTG
TTACCCTACATGACCAGGGCACTGCCCAGTGGGCTGATCTTTCCTCCCAGTTCTACCTGCGGGA
GGAGGACATCGGTAAAAACCGGGCCGAGGTATCACAGCCCCGCCTCGCTGAGCTCAACAGCTAT
GTGCCTGTCACTGCCTACACTGGACCCCTCGTTGAGGACTTCCTTAGTGGTTTCCAGGTGGTGG
TGCTCACCAACACCCCCCTGGAGGACCAGCTGCGAGTGGGTGAGTTCTGTCACAACCGTGGCAT
CAAGCTGGTGGTGGCAGACACGCGGGGCCTGTTTGGGCAGCTCTTCTGTGACTTTGGAGAGGAA
ATGATCCTCACAGATTCCAATGGGGAGCAGCCACTCAGTGCTATGGTTTCTATGGTTACCAAGG
ACAACCCCGGTGTGGTTACCTGCCTGGATGAGGCCCGACACGGGTTTGAGAGCGGGGACTTTGT
CTCCTTTTCAGAAGTACAGGGCATGGTTGAACTCAACGGAAATCAGCCCATGGAGATCAAAGTC
CTGGGTCCTTATACCTTTAGCATCTGTGACACCTCCAACTTCTCCGACTACATCCGTGGAGGCA
TCGTCAGTCAGGTCAAAGTACCTAAGAAGATTAGCTTTAAATCCTTGGTGGCCTCACTGGCAGA
ACCTGACTTTGTGGTGACGGACTTCGCCAAGTTTTCTCGCCCTGCCCAGCTGCACATTGGCTTC
CAGGCCCTGCACCAGTTCTGTGCTCAGCATGGCCGGCCACCTCGGCCCCGCAATGAGGAGGATG
CAGCAGAACTGGTAGCCTTAGCACAGGCTGTGAATGCTCGAGCCCTGCCAGCAGTGCAGCAAAA
TAACCTGGACGAGGACCTCATCCGGAAGCTGGCATATGTGGCTGCTGGGGATCTGGCACCCATA
AACGCCTTCATTGGGGGCCTGGCTGCCCAGGAAGTCATGAAGGCCTGCTCCGGGAAGTTCATGC
CCATCATGCAGTGGCTATACTTTGATGCCCTTGAGTGTCTCCCTGAGGACAAAGAGGTCCTCAC
AGAGGACAAGTGCCTCCAGCGCCAGAACCGTTATGACGGGCAAGTGGCTGTGTTTGGCTCAGAC
CTGCAAGAGAAGCTGGGCAAGCAGAAGTATTTCCTGGTGGGTGCGGGGGCCATTGGCTGTGAGC
TGCTCAAGAACTTTGCCATGATTGGGCTGGGCTGCGGGGAGGGTGGAGAAATCATCGTTACAGA
CATGGACACCATTGAGAAGTCAAATCTGAATCGACAGTTTCTTTTCCGGCCCTGGGATGTCACG
AAGTTAAAGTCTGACACGGCTGCTGCAGCTGTGCGCCAAATGAATCCACATATCCGGGTGACAA
GCCACCAGAACCGTGTGGGTCCTGACACGGAGCGCATCTATGATGACGATTTTTTCCAAAACCT
AGATGGCGTGGCCAATGCCCTGGACAACGTGGATGCCCGCATGTACATGGACCGCCGCTGTGTC
TACTACCGGAAGCCACTGCTGGAGTCAGGCACACTGGGCACCAAAGGCAATGTGCAGGTGGTGA
TCCCCTTCCTGACAGAGTCGTACAGTTCCAGCCAGGACCCACCTGAGAAGTCCATCCCCATCTG
TACCCTGAAGAACTTCCCTAATGCCATCGAGCACACCCTGCAGTGGGCTCGGGATGAGTTTGAA
GGCCTCTTCAAGCAGCCAGCAGAAAATGTCAACCAGTACCTCACAGACCCCAAGTTTGTGGAGC
GAACACTGCGGCTGGCAGGCACTCAGCCCTTGGAGGTGCTGGAGGCTGTGCAGCGCAGCCTGGT
GCTGCAGCGACCACAGACCTGGGCTGACTGCGTGACCTGGGCCTGCCACCACTGGCACACCCAG
TACTCGAACAACATCCGGCAGCTGCTGCACAACTTCCCTCCTGACCAGCTCACAAGCTCAGGAG
CGCCGTTCTGGTCTGGGCCCAAACGCTGTCCACACCCGCTCACCTTTGATGTCAACAATCCCCT
GCATCTGGACTATGTGATGGCTGCTGCCAACCTGTTTGCCCAGACCTACGGGCTGACAGGCTCT
CAGGACCGAGCTGCTGTGGCCACATTCCTGCAGTCTGTGCAGGTCCCCGAATTCACCCCCAAGT
CTGGCGTCAAGATCCATGTTTCTGACCAGGAGCTGCAGAGCGCCAATGCCTCTGTTGATGACAG
TCGTCTAGAGGAGCTCAAAGCCACTCTGCCCAGCCCAGACAAGCTCCCTGGATTCAAGATGTAC
CCCATTGACTTTGAGAAGGATGATGACAGCAACTTTCATATGGATTTCATCGTGGCTGCATCCA
ACCTCCGGGCAGAAAACTATGACATTCCTTCTGCAGACCGGCACAAGAGCAAGCTGATTGCAGG
GAAGATCATCCCAGCCATTGCCACGACCACAGCAGCCGTGGTTGGCCTTGTGTGTCTGGAGCTG
TACAAGGTTGTGCAGGGGCACCGACAGCTTGACTCCTACAAGAATGGTTTCCTCAACTTGGCCC
TGCCTTTCTTTGGTTTCTCTGAACCCCTTGCCGCACCACGTCACCAGTACTATAACCAAGAGTG
GACATTGTGGGATCGCTTTGAGGTACAAGGGCTGCAGCCTAATGGTGAGGAGATGACCCTCAAA
CAGTTCCTCGACTATTTTAAGACAGAGCACAAATTAGAGATCACCATGCTGTCCCAGGGCGTGT
CCATGCTCTATTCCTTCTTCATGCCAGCTGCCAAGCTCAAGGAACGGTTGGATCAGCCGATGAC
AGAGATTGTGAGCCGTGTGTCGAAGCGAAAGCTGGGCCGCCACGTGCGGGCGCTGGTGCTTGAG
CTGTGCTGTAACGACGAGAGCGGCGAGGATGTCGAGGTTCCCTATGTCCGATACACCATCCGCT
GACCCCGTCTGCTCCTCTAGGCTGGCCCCTTGTCCACCCCTCTCCACACCCCTTCCAGCCCAGG
GTTCCCATTTGGCTTCTGGCAGTGGCCCAACTAGCCAAGTCTGGTGTTCCCTCATCATCCCCCT
ACCTGAACCCCTCTTGCCACTGCCTTCTACCTTGTTTGAAACCTGAATCCTAATAAAGAATTAA
TAACTCCCA

hide sequence

RefSeq Acc Id:

XM_011543954 ⟹ XP_011542256

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	47,193,829 - 47,215,128 (+)	NCBI

Sequence:

show sequence

ATCTTGTGTCGGCGGCTCGGCTGTAAGGAGGTGGCAGGGACAACCACAACCACAACGGCCGGGG
GAGGAGAAGGCGGCAGCGGCGATTCTAGGCGGCCCAGGCGGCGGGGAGGAGGAGAAGGAGGAGG
GTGGCGGCCGGGCTTGGCTTCGGCTCCTTGAGGAGTTGGCGGCGGCGCGACCCGGGGAACCGGC
ATTGGTTCTATGCTCTGTGTTATTTATCATCTCGATAACCCCGTGGGGAAGATGTCCAGCTCGC
CGCTGTCCAAGAAACGTCGCGTGTCCGGGCCTGATCCAAAGCCGGGTTCTAACTGCTCCCCTGC
CCAGTCCGTGTTGTCCGAAGTGCCCTCGGTGCCAACCAACGGAATGGCCAAGAACGGCAGTGAA
GCAGACATAGACGAGGGCCTTTACTCCCGGCAGCTGTATGTGTTGGGCCATGAGGCAATGAAGC
GGCTCCAGACATCCAGTGTCCTGGTATCAGGCCTGCGGGGCCTGGGCGTGGAGATCGCTAAGAA
CATCATCCTTGGTGGGGTCAAGGCTGTTACCCTACATGACCAGGGCACTGCCCAGTGGGCTGAT
CTTTCCTCCCAGTTCTACCTGCGGGAGGAGGACATCGGTAAAAACCGGGCCGAGGTATCACAGC
CCCGCCTCGCTGAGCTCAACAGCTATGTGCCTGTCACTGCCTACACTGGACCCCTCGTTGAGGA
CTTCCTTAGTGGTTTCCAGGTGGTGGTGCTCACCAACACCCCCCTGGAGGACCAGCTGCGAGTG
GGTGAGTTCTGTCACAACCGTGGCATCAAGCTGGTGGTGGCAGACACGCGGGGCCTGTTTGGGC
AGCTCTTCTGTGACTTTGGAGAGGAAATGATCCTCACAGATTCCAATGGGGAGCAGCCACTCAG
TGCTATGGTTTCTATGGTTACCAAGGACAACCCCGGTGTGGTTACCTGCCTGGATGAGGCCCGA
CACGGGTTTGAGAGCGGGGACTTTGTCTCCTTTTCAGAAGTACAGGGCATGGTTGAACTCAACG
GAAATCAGCCCATGGAGATCAAAGTCCTGGGTCCTTATACCTTTAGCATCTGTGACACCTCCAA
CTTCTCCGACTACATCCGTGGAGGCATCGTCAGTCAGGTCAAAGTACCTAAGAAGATTAGCTTT
AAATCCTTGGTGGCCTCACTGGCAGAACCTGACTTTGTGGTGACGGACTTCGCCAAGTTTTCTC
GCCCTGCCCAGCTGCACATTGGCTTCCAGGCCCTGCACCAGTTCTGTGCTCAGCATGGCCGGCC
ACCTCGGCCCCGCAATGAGGAGGATGCAGCAGAACTGGTAGCCTTAGCACAGGCTGTGAATGCT
CGAGCCCTGCCAGCAGTGCAGCAAAATAACCTGGACGAGGACCTCATCCGGAAGCTGGCATATG
TGGCTGCTGGGGATCTGGCACCCATAAACGCCTTCATTGGGGGCCTGGCTGCCCAGGAAGTCAT
GAAGGCCTGCTCCGGGAAGTTCATGCCCATCATGCAGTGGCTATACTTTGATGCCCTTGAGTGT
CTCCCTGAGGACAAAGAGGTCCTCACAGAGGACAAGTGCCTCCAGCGCCAGAACCGTTATGACG
GGCAAGTGGCTGTGTTTGGCTCAGACCTGCAAGAGAAGCTGGGCAAGCAGAAGTATTTCCTGGT
GGGTGCGGGGGCCATTGGCTGTGAGCTGCTCAAGAACTTTGCCATGATTGGGCTGGGCTGCGGG
GAGGGTGGAGAAATCATCGTTACAGACATGGACACCATTGAGAAGTCAAATCTGAATCGACAGT
TTCTTTTCCGGCCCTGGGATGTCACGAAGTTAAAGTCTGACACGGCTGCTGCAGCTGTGCGCCA
AATGAATCCACATATCCGGGTGACAAGCCACCAGAACCGTGTGGGTCCTGACACGGAGCGCATC
TATGATGACGATTTTTTCCAAAACCTAGATGGCGTGGCCAATGCCCTGGACAACGTGGATGCCC
GCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGCTGGAGTCAGGCACACTGGG
CACCAAAGGCAATGTGCAGGTGGTGATCCCCTTCCTGACAGAGTCGTACAGTTCCAGCCAGGAC
CCACCTGAGAAGTCCATCCCCATCTGTACCCTGAAGAACTTCCCTAATGCCATCGAGCACACCC
TGCAGTGGGCTCGGGATGAGTTTGAAGGCCTCTTCAAGCAGCCAGCAGAAAATGTCAACCAGTA
CCTCACAGACCCCAAGTTTGTGGAGCGAACACTGCGGCTGGCAGGCACTCAGCCCTTGGAGGTG
CTGGAGGCTGTGCAGCGCAGCCTGGTGCTGCAGCGACCACAGACCTGGGCTGACTGCGTGACCT
GGGCCTGCCACCACTGGCACACCCAGTACTCGAACAACATCCGGCAGCTGCTGCACAACTTCCC
TCCTGACCAGCTCACAAGCTCAGGAGCGCCGTTCTGGTCTGGGCCCAAACGCTGTCCACACCCG
CTCACCTTTGATGTCAACAATCCCCTGCATCTGGACTATGTGATGGCTGCTGCCAACCTGTTTG
CCCAGACCTACGGGCTGACAGGCTCTCAGGACCGAGCTGCTGTGGCCACATTCCTGCAGTCTGT
GCAGGTCCCCGAATTCACCCCCAAGTCTGGCGTCAAGATCCATGTTTCTGACCAGGAGCTGCAG
AGCGCCAATGCCTCTGTTGATGACAGTCGTCTAGAGGAGCTCAAAGCCACTCTGCCCAGCCCAG
ACAAGCTCCCTGGATTCAAGATGTACCCCATTGACTTTGAGAAGGATGATGACAGCAACTTTCA
TATGGATTTCATCGTGGCTGCATCCAACCTCCGGGCAGAAAACTATGACATTCCTTCTGCAGAC
CGGCACAAGAGCAAGCTGATTGCAGGGAAGATCATCCCAGCCATTGCCACGACCACAGCAGCCG
TGGTTGGCCTTGTGTGTCTGGAGCTGTACAAGGTTGTGCAGGGGCACCGACAGCTTGACTCCTA
CAAGAATGGTTTCCTCAACTTGGCCCTGCCTTTCTTTGGTTTCTCTGAACCCCTTGCCGCACCA
CGTCACCAGTACTATAACCAAGAGTGGACATTGTGGGATCGCTTTGAGGTACAAGGGCTGCAGC
CTAATGGTGAGGAGATGACCCTCAAACAGTTCCTCGACTATTTTAAGACAGAGCACAAATTAGA
GATCACCATGCTGTCCCAGGGCGTGTCCATGCTCTATTCCTTCTTCATGCCAGCTGCCAAGCTC
AAGGAACGGTTGGATCAGCCGATGACAGAGATTGTGAGCCGTGTGTCGAAGCGAAAGCTGGGCC
GCCACGTGCGGGCGCTGGTGCTTGAGCTGTGCTGTAACGACGAGAGCGGCGAGGATGTCGAGGT
TCCCTATGTCCGATACACCATCCGCTGACCCCGTCTGCTCCTCTAGGCTGGCCCCTTGTCCACC
CCTCTCCACACCCCTTCCAGCCCAGGGTTCCCATTTGGCTTCTGGCAGTGGCCCAACTAGCCAA
GTCTGGTGTTCCCTCATCATCCCCCTACCTGAACCCCTCTTGCCACTGCCTTCTACCTTGTTTG
AAACCTGAATCCTAATAAAGAATTAATAACTCCCA

hide sequence

RefSeq Acc Id:

XM_017029777 ⟹ XP_016885266

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	47,193,829 - 47,215,128 (+)	NCBI

Sequence:

show sequence

TCAGTAAATGGAAAATATGGTTCACCTTTGTCTCTACTAACTCACCAAGCCTCTTGCTACCCAG
GTTGGCTCTTAGCATTCTAAGCAATTCACCTGGCTATCTCAGGGGCTCCAGCCAGCCTGCTGCC
TCCCCTCATCTCCCATTCCTTAGCCCTGTGGACTGGGCCCTGAGCCCAGGGGCATTTGGCAAAC
AGTCCCCCACCAGCTGCATGCCTCTGGGCGAGTGAATGGGGTTCTCTAAGCCTTTCTTTTCCCA
TTTGTGATTTGGGCATAGGGTTATCTGGGTCATGGGGATTGTTAAGATTAGACAAAGCCCTTTC
CTCTTTGATTGACACACAGTATGCTCTTGGTAGATAGTAGGGAGCTCTTGTCATTGTGGTTGGT
GCTAGTGACAAGTGCCAAGATGGAATCTTAGGTACATTGGGATACTTAGTGTCATAAAAGTCTC
AGTGTGGGAGGACTTGTGTGAACAGAAGACTCAGTGCCTAGAGGAGCACTTGGGGTGAGGGGAA
GTGACGCTGGGTCCTCCCATCTCCAGCATGTGGACCCAGTCACCCCCACCACCAGATTTCACTT
CCACAGCAGGCTTTATTGTTCTGTCTCTGGGACCTAGCAGGTGACCCTGGGCAAGTTACTTCTC
ATTTGTCCGGCAAGGACACTAAACTCTGCCTTGCTGGGTCAGGGTCATGGAGGGGATGAAACGT
GATAACACGAGGAAGCAGCCTGGGCTTCAGAGTCAGCAGATCCTGGTCTGGTCCCAGCTCAGTG
TGTGGGAACCTTGGTCACCGAACGTCCCTGAGTGAATTTTTTTCCATCACTTTAAAGTTGGGGG
TATTATTGATAGCAGTCCAAACCCCACAGGAGTACCCTGAGGACAGAGTGAGACGAGGTTTAGA
GAAGTGCTTACTATGGCATCTGGCACAAGGAGG

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

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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