SELENOO (selenoprotein O) - Rat Genome Database

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

Gene: SELENOO (selenoprotein O) Homo sapiens

Analyze

Symbol:

SELENOO

Name:

selenoprotein O

RGD ID:

1605929

HGNC Page

HGNC:30395

Description:

Enables AMPylase activity. Located in chromosome and mitochondrion.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

MGC131879; SELO

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Selenoo (selenoprotein O)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Selenoo (selenoprotein O)	HGNC	Ensembl, HomoloGene, NCBI
Chinchilla lanigera (long-tailed chinchilla):	Selenoo (selenoprotein O)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	SELENOO (selenoprotein O)	NCBI	Ortholog
Canis lupus familiaris (dog):	SELENOO (selenoprotein O)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Selenoo (selenoprotein O)	NCBI	Ortholog
Sus scrofa (pig):	SELENOO (selenoprotein O)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Treefam
Chlorocebus sabaeus (green monkey):	SELENOO (selenoprotein O)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Selenoo (selenoprotein O)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Selenoo (selenoprotein O)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Selenoo (selenoprotein O)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	FMP40	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	selenoo1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	selenoo2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus laevis (African clawed frog):	selenoo.L	Alliance	DIOPT (Xenbase)

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	22	50,201,011 - 50,217,616 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	50,201,011 - 50,217,616 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	50,639,440 - 50,656,045 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	48,981,535 - 48,998,172 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	22	34,514,319 - 34,530,956 (+)	NCBI		Celera
Cytogenetic Map	22	q13.33	NCBI
HuRef	22	33,542,320 - 33,553,289 (+)	NCBI		HuRef
CHM1_1	22	50,598,148 - 50,614,788 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	50,707,772 - 50,724,578 (+)	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

autism spectrum disorder (IAGP)

chromosome 22q13 duplication syndrome (IAGP)

congenital disorder of glycosylation Ig (IAGP)

intellectual disability (IAGP)

metachromatic leukodystrophy (IAGP)

Phelan-McDermid syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

2-methylcholine (EXP)

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

4,4'-sulfonyldiphenol (EXP)

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

acetamide (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

C60 fullerene (ISO)

cisplatin (EXP)

clofibrate (ISO)

cyclosporin A (EXP)

dexamethasone (EXP)

diquat (ISO)

ethanol (ISO)

folic acid (ISO)

indometacin (EXP)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP)

perfluorononanoic acid (EXP)

quercetin (EXP)

tetrachloromethane (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

chromosome (IDA)

mitochondrion (IDA,IEA)

Molecular Function

AMPylase activity (IDA,IEA)

ATP binding (IEA)

metal ion binding (IEA)

nucleotidyltransferase activity (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autistic behavior (IAGP)

Intellectual disability (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:223596	PMID:10591208	PMID:12477932	PMID:12775843	PMID:15461802	PMID:15489334	PMID:22359664	PMID:24751718	PMID:24927181	PMID:25476789	PMID:26186194	PMID:27645994
PMID:28514442	PMID:30270044	PMID:31091453	PMID:31617661	PMID:33961781	PMID:36215168	PMID:37827155

Genomics

Comparative Map Data

SELENOO
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	50,201,011 - 50,217,616 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	50,201,011 - 50,217,616 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	50,639,440 - 50,656,045 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	48,981,535 - 48,998,172 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	22	34,514,319 - 34,530,956 (+)	NCBI		Celera
Cytogenetic Map	22	q13.33	NCBI
HuRef	22	33,542,320 - 33,553,289 (+)	NCBI		HuRef
CHM1_1	22	50,598,148 - 50,614,788 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	50,707,772 - 50,724,578 (+)	NCBI		T2T-CHM13v2.0

Selenoo
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	88,973,241 - 88,984,542 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	88,973,287 - 88,984,543 (+)	Ensembl		GRCm39 Ensembl
GRCm38	15	89,089,038 - 89,100,339 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	89,089,084 - 89,100,340 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	88,919,537 - 88,930,770 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	88,916,873 - 88,928,106 (+)	NCBI		MGSCv36	mm8
Celera	15	91,217,015 - 91,228,224 (+)	NCBI		Celera
Cytogenetic Map	15	E3	NCBI
cM Map	15	44.6	NCBI

Selenoo
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	122,047,555 - 122,058,448 (+)	NCBI		GRCr8
mRatBN7.2	7	120,167,913 - 120,178,806 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	120,167,913 - 120,178,805 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	121,918,833 - 121,929,694 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	124,144,998 - 124,155,859 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	124,108,021 - 124,118,902 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	130,071,122 - 130,082,015 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	130,071,122 - 130,082,014 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	129,757,068 - 129,767,961 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	127,392,500 - 127,403,393 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	127,426,837 - 127,437,268 (+)	NCBI
Celera	7	116,641,864 - 116,652,758 (+)	NCBI		Celera
Cytogenetic Map	7	q34	NCBI

Selenoo
(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_004955413	33,245,456 - 33,256,387 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	33,235,382 - 33,253,484 (+)	NCBI	ChiLan1.0	ChiLan1.0

SELENOO
(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	23	60,106,191 - 60,123,114 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	62,792,577 - 62,809,413 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	30,429,334 - 30,446,169 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	49,428,266 - 49,446,285 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

SELENOO
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	17,025,023 - 17,032,922 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	16,968,287 - 17,033,250 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	17,003,070 - 17,010,969 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	17,752,103 - 17,760,002 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	17,695,457 - 17,765,745 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	17,476,153 - 17,484,044 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	17,799,207 - 17,807,106 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	17,931,423 - 17,939,322 (-)	NCBI		UU_Cfam_GSD_1.0

Selenoo
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	587,607 - 596,315 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936629	587,913 - 596,190 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936629	587,607 - 597,695 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SELENOO
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	467,547 - 481,230 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	467,546 - 480,836 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	110,690,389 - 110,703,696 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SELENOO
(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	19	32,692,237 - 32,708,595 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	19	32,693,005 - 32,708,437 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	92,646,908 - 92,663,024 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Selenoo
(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_004624752	542,637 - 550,642 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624752	542,378 - 551,300 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SELENOO
26 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	copy number loss	See cases [RCV000050935]	Chr22:45239376..50739836 [GRCh38] Chr22:45635257..51178264 [GRCh37] Chr22:44013921..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1	copy number loss	See cases [RCV000050848]	Chr22:47705262..50739836 [GRCh38] Chr22:48101011..51178264 [GRCh37] Chr22:46479675..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]\|See cases [RCV000051370]	Chr22:42138114..50739836 [GRCh38] Chr22:42513525..51178264 [GRCh37] Chr22:40843471..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	copy number loss	See cases [RCV000051371]	Chr22:42433752..50738932 [GRCh38] Chr22:42829758..51177360 [GRCh37] Chr22:41159702..49524226 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	copy number loss	See cases [RCV000051407]	Chr22:42826246..50739836 [GRCh38] Chr22:43222252..51178264 [GRCh37] Chr22:41552196..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	copy number loss	See cases [RCV000051408]	Chr22:43807366..50739836 [GRCh38] Chr22:44203246..51178264 [GRCh37] Chr22:42534579..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1	copy number loss	See cases [RCV000051409]	Chr22:43993654..50739977 [GRCh38] Chr22:44389534..51178405 [GRCh37] Chr22:42720867..49525271 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	copy number loss	See cases [RCV000051410]	Chr22:44740175..50739836 [GRCh38] Chr22:45136055..51178264 [GRCh37] Chr22:43514719..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1	copy number loss	See cases [RCV000051411]	Chr22:45648256..50739836 [GRCh38] Chr22:46044136..51178264 [GRCh37] Chr22:44422800..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1	copy number loss	See cases [RCV000051412]	Chr22:47122613..50739836 [GRCh38] Chr22:47518509..51178264 [GRCh37] Chr22:45897173..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1	copy number loss	See cases [RCV000051413]	Chr22:47234701..50739836 [GRCh38] Chr22:47630451..51178264 [GRCh37] Chr22:46009115..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1	copy number loss	See cases [RCV000051440]	Chr22:48138038..50739836 [GRCh38] Chr22:48533855..51178264 [GRCh37] Chr22:46912519..49525130 [NCBI36] Chr22:22q13.32-13.33	pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]\|See cases [RCV000051441]	Chr22:48423668..50739836 [GRCh38] Chr22:48819480..51178264 [GRCh37] Chr22:47198144..49525130 [NCBI36] Chr22:22q13.32-13.33	pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1	copy number loss	See cases [RCV000051442]	Chr22:48654672..50739836 [GRCh38] Chr22:49050484..51178264 [GRCh37] Chr22:47436920..49525130 [NCBI36] Chr22:22q13.32-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1	copy number loss	See cases [RCV000051443]	Chr22:49395349..50738932 [GRCh38] Chr22:49788999..51177360 [GRCh37] Chr22:48175003..49524226 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1	copy number loss	See cases [RCV000051098]	Chr22:46065705..50739836 [GRCh38] Chr22:46461585..51178264 [GRCh37] Chr22:44840249..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3	copy number gain	See cases [RCV000051682]	Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	copy number gain	See cases [RCV000051684]	Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	copy number gain	See cases [RCV000051686]	Chr22:42599757..50725241 [GRCh38] Chr22:42995763..51163669 [GRCh37] Chr22:41325707..49510535 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	copy number gain	See cases [RCV000051687]	Chr22:42653747..50739836 [GRCh38] Chr22:43049753..51178264 [GRCh37] Chr22:41379697..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]\|See cases [RCV000051688]	Chr22:44700812..50739836 [GRCh38] Chr22:45096692..51178264 [GRCh37] Chr22:43475356..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	copy number gain	See cases [RCV000051689]	Chr22:44811200..50739836 [GRCh38] Chr22:45207080..51178264 [GRCh37] Chr22:43585744..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
NM_031454.1(SELO):c.1734C>T (p.Ala578=)	single nucleotide variant	Malignant melanoma [RCV000063932]	Chr22:50217017 [GRCh38] Chr22:50655446 [GRCh37] Chr22:48997573 [NCBI36] Chr22:22q13.33	not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1	copy number loss	See cases [RCV000133859]	Chr22:49378128..50739836 [GRCh38] Chr22:49774048..51178264 [GRCh37] Chr22:48160052..49525130 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	copy number loss	See cases [RCV000133865]	Chr22:44606363..50739836 [GRCh38] Chr22:45002243..51178264 [GRCh37] Chr22:43380907..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1	copy number loss	See cases [RCV000133707]	Chr22:49315518..50739836 [GRCh38] Chr22:49711443..51178264 [GRCh37] Chr22:48097447..49525130 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	copy number gain	See cases [RCV000134513]	Chr22:40202014..50735806 [GRCh38] Chr22:40598018..51174234 [GRCh37] Chr22:38927964..49521100 [NCBI36] Chr22:22q13.1-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1	copy number loss	See cases [RCV000135691]	Chr22:49504768..50780581 [GRCh38] Chr22:49898417..51203353 [GRCh37] Chr22:48284421..49565875 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	copy number loss	See cases [RCV000135444]	Chr22:43902561..50739836 [GRCh38] Chr22:44298441..51178264 [GRCh37] Chr22:42629774..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1	copy number loss	See cases [RCV000135615]	Chr22:46919818..50739836 [GRCh38] Chr22:47315714..51178264 [GRCh37] Chr22:45694378..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3	copy number gain	See cases [RCV000136106]	Chr22:50055303..50677724 [GRCh38] Chr22:50493732..51116152 [GRCh37] Chr22:48835859..49463018 [NCBI36] Chr22:22q13.33	uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	copy number gain	See cases [RCV000136573]	Chr22:44797239..50739836 [GRCh38] Chr22:45193119..51178264 [GRCh37] Chr22:43571783..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	copy number gain	See cases [RCV000136124]	Chr22:43992879..50683114 [GRCh38] Chr22:44388759..51121542 [GRCh37] Chr22:42720092..49468408 [NCBI36] Chr22:22q13.31-13.33	benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	copy number loss	See cases [RCV000136921]	Chr22:41871143..50739836 [GRCh38] Chr22:42267147..51178264 [GRCh37] Chr22:40597093..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1	copy number loss	See cases [RCV000136941]	Chr22:48614336..50739836 [GRCh38] Chr22:49010148..51178264 [GRCh37] Chr22:47396711..49525130 [NCBI36] Chr22:22q13.32-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	copy number gain	See cases [RCV000137136]	Chr22:42710276..50739836 [GRCh38] Chr22:43106282..51178264 [GRCh37] Chr22:41436226..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	copy number loss	See cases [RCV000136894]	Chr22:44764289..50739836 [GRCh38] Chr22:45160169..51178264 [GRCh37] Chr22:43538833..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	copy number loss	See cases [RCV000136786]	Chr22:42493445..50268479 [GRCh38] Chr22:42889451..50706908 [GRCh37] Chr22:41219395..49049035 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1	copy number loss	See cases [RCV000137377]	Chr22:48500344..50780581 [GRCh38] Chr22:48896156..51203353 [GRCh37] Chr22:47274820..49565875 [NCBI36] Chr22:22q13.32-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1	copy number loss	See cases [RCV000140089]	Chr22:50149563..50780522 [GRCh38] Chr22:50587992..51218950 [GRCh37] Chr22:48930119..49565816 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1	copy number loss	See cases [RCV000139655]	Chr22:49535113..50780581 [GRCh38] Chr22:49928762..51203353 [GRCh37] Chr22:48314766..49565875 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	copy number loss	See cases [RCV000141415]	Chr22:42837094..50735806 [GRCh38] Chr22:43233100..51174234 [GRCh37] Chr22:41563044..49521100 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	copy number loss	See cases [RCV000140901]	Chr22:43187980..50745444 [GRCh38] Chr22:43583986..51183872 [GRCh37] Chr22:41913930..49530738 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1	copy number loss	See cases [RCV000140772]	Chr22:46732445..50780522 [GRCh38] Chr22:47128342..51218950 [GRCh37] Chr22:45507006..49565816 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50055231-50202728)x1	copy number loss	See cases [RCV000141600]	Chr22:50055231..50202728 [GRCh38] Chr22:50493660..50641157 [GRCh37] Chr22:48835787..48983284 [NCBI36] Chr22:22q13.33	uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	copy number gain	See cases [RCV000141659]	Chr22:42380961..50759410 [GRCh38] Chr22:42776967..51197838 [GRCh37] Chr22:41106911..49544704 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	copy number gain	See cases [RCV000142755]	Chr22:42080077..50739836 [GRCh38] Chr22:42476081..51178264 [GRCh37] Chr22:40806027..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1	copy number loss	See cases [RCV000142589]	Chr22:48241375..50739836 [GRCh38] Chr22:48637187..51178264 [GRCh37] Chr22:47015851..49525130 [NCBI36] Chr22:22q13.32-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1	copy number loss	See cases [RCV000143708]	Chr22:49529760..50759410 [GRCh38] Chr22:49923409..51197838 [GRCh37] Chr22:48309413..49544704 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1	copy number loss	See cases [RCV000143487]	Chr22:46361165..50759299 [GRCh38] Chr22:46757062..51197727 [GRCh37] Chr22:45135726..49544593 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	copy number loss	not provided [RCV000767746]	Chr22:45075720..51181759 [GRCh37] Chr22:22q13.31-13.33	pathogenic
Single allele	deletion	Autism spectrum disorder [RCV000208741]	Chr22:49033233..51193680 [GRCh37] Chr22:22q13.32-13.33	pathogenic
Single allele	deletion	Autism spectrum disorder [RCV000208731]	Chr22:50282986..51304566 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	copy number gain	See cases [RCV000240091]	Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	copy number gain	See cases [RCV000240469]	Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33	pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	copy number gain	See cases [RCV000240459]	Chr22:40425714..51220961 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1	copy number loss	See cases [RCV000449140]	Chr22:47247169..51176099 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	copy number gain	See cases [RCV000446956]	Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1	copy number loss	See cases [RCV000446928]	Chr22:47187586..51237463 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1	copy number loss	See cases [RCV000447857]	Chr22:46866460..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50645586-50949482)	copy number loss	Abnormal esophagus morphology [RCV000416670]	Chr22:50645586..50949482 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	copy number gain	See cases [RCV000448847]	Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	copy number loss	See cases [RCV000512121]	Chr22:43381459..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:49628164-51197838)x1	copy number loss	See cases [RCV000510342]	Chr22:49628164..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1	copy number loss	See cases [RCV000510351]	Chr22:46543160..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1	copy number loss	See cases [RCV000511340]	Chr22:48556939..51197838 [GRCh37] Chr22:22q13.32-13.33	pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49305443-51197838)x1	copy number loss	See cases [RCV000511993]	Chr22:49305443..51197838 [GRCh37] Chr22:22q13.32-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1	copy number loss	See cases [RCV000511015]	Chr22:43875989..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1	copy number loss	See cases [RCV000511220]	Chr22:45261208..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	copy number loss	See cases [RCV000511256]	Chr22:43050743..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	copy number loss	See cases [RCV000510765]	Chr22:42441918..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	copy number gain	See cases [RCV000510873]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_031454.2(SELENOO):c.341G>A (p.Arg114His)	single nucleotide variant	not specified [RCV004309222]	Chr22:50201377 [GRCh38] Chr22:50639806 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264)	copy number loss	Phelan-McDermid syndrome [RCV000767671]	Chr22:48533991..51178264 [GRCh37] Chr22:22q13.32-13.33	pathogenic
NM_031454.2(SELENOO):c.910G>A (p.Val304Met)	single nucleotide variant	not specified [RCV004291412]	Chr22:50208687 [GRCh38] Chr22:50647116 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.397G>T (p.Ala133Ser)	single nucleotide variant	not specified [RCV004312560]	Chr22:50201433 [GRCh38] Chr22:50639862 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1828C>T (p.Arg610Cys)	single nucleotide variant	not specified [RCV004296219]	Chr22:50217111 [GRCh38] Chr22:50655540 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q13.33(chr22:50145416-51197838)x1	copy number loss	See cases [RCV000512145]	Chr22:50145416..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	copy number gain	See cases [RCV000512333]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1	copy number loss	not provided [RCV000684522]	Chr22:46780978..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1	copy number loss	not provided [RCV000684523]	Chr22:46768838..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1	copy number loss	not provided [RCV000684524]	Chr22:46667744..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1	copy number loss	not provided [RCV000684525]	Chr22:45994305..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1	copy number loss	not provided [RCV000684526]	Chr22:44789956..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	copy number loss	not provided [RCV000684527]	Chr22:43320284..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	copy number loss	not provided [RCV000684528]	Chr22:43111156..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	copy number loss	not provided [RCV000684529]	Chr22:42955616..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1	copy number loss	not provided [RCV000684487]	Chr22:50190425..51183767 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50613566-51197838)x1	copy number loss	not provided [RCV000684479]	Chr22:50613566..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1	copy number loss	not provided [RCV000684488]	Chr22:50134203..51183840 [GRCh37] Chr22:22q13.33	pathogenic
Single allele	deletion	not provided [RCV000768459]	Chr22:46794432..51139778 [GRCh37] Chr22:22q13.31-13.33	likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3	copy number gain	not provided [RCV000741689]	Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3	copy number gain	not provided [RCV000741691]	Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1	copy number loss	not provided [RCV000741989]	Chr22:42151555..51195728 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1	copy number loss	not provided [RCV000742061]	Chr22:47782346..51243435 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1	copy number loss	not provided [RCV000742062]	Chr22:48125251..51211392 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49313561-51195728)x1	copy number loss	not provided [RCV000742071]	Chr22:49313561..51195728 [GRCh37] Chr22:22q13.32-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50555635-50710349)x3	copy number gain	not provided [RCV000742096]	Chr22:50555635..50710349 [GRCh37] Chr22:22q13.33	benign
GRCh37/hg19 22q13.33(chr22:50627704-51211392)x1	copy number loss	not provided [RCV000742097]	Chr22:50627704..51211392 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3	copy number gain	not provided [RCV000741692]	Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3	copy number gain	not provided [RCV001007194]	Chr22:49648935..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	copy number gain	not provided [RCV001007502]	Chr22:40502364..51197838 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1	copy number loss	not provided [RCV001007506]	Chr22:48223839..51197725 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1	copy number loss	not provided [RCV001007508]	Chr22:48528536..51183840 [GRCh37] Chr22:22q13.32-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	copy number loss	Phelan-McDermid syndrome [RCV000767745]	Chr22:42416026..51181759 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50464963-50668571)x1	copy number loss	not provided [RCV000847100]	Chr22:50464963..50668571 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	copy number gain	not provided [RCV000846344]	Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3	copy number gain	not provided [RCV000846659]	Chr22:47740201..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3	copy number gain	not provided [RCV000849204]	Chr22:46432744..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50651883-50859165)x3	copy number gain	not provided [RCV000849943]	Chr22:50651883..50859165 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	copy number gain	not provided [RCV001007181]	Chr22:30654764..51197838 [GRCh37] Chr22:22q12.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1	copy number loss	not provided [RCV002473520]	Chr22:45889148..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3	copy number gain	not provided [RCV001007507]	Chr22:48454469..51144947 [GRCh37] Chr22:22q13.32-13.33	pathogenic
NM_031454.2(SELENOO):c.*236C>T	single nucleotide variant	not provided [RCV001612386]	Chr22:50217605 [GRCh38] Chr22:50656034 [GRCh37] Chr22:22q13.33	benign
Single allele	copy number loss	22q13.3 interstitial deletion [RCV001200047]	Chr22:44850001..50850001 [GRCh37] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.(?_50206317)_(50229577_?)del	deletion	not provided [RCV001033488]	Chr22:50644746..50668006 [GRCh37] Chr22:22q13.33	uncertain significance
NC_000022.11:g.48500344_50780581del	deletion	Phelan-McDermid syndrome [RCV001254361]	Chr22:48500344..50780581 [GRCh38] Chr22:22q13.32-13.33	pathogenic
NC_000022.11:g.47447433_50806138del	deletion	Phelan-McDermid syndrome [RCV001254362]	Chr22:47447433..50806138 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.45819932_50737806del	deletion	Phelan-McDermid syndrome [RCV001254366]	Chr22:45819932..50737806 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.47705262_50739836del	deletion	Phelan-McDermid syndrome [RCV001254360]	Chr22:47705262..50739836 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.46489644_50806138del	deletion	Phelan-McDermid syndrome [RCV001254363]	Chr22:46489644..50806138 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.48500337_50739785del	deletion	Phelan-McDermid syndrome [RCV001254365]	Chr22:48500337..50739785 [GRCh38] Chr22:22q13.32-13.33	pathogenic
NC_000022.11:g.46467175_50759338del	deletion	Phelan-McDermid syndrome [RCV001254367]	Chr22:46467175..50759338 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.46269281_50740560del	deletion	Phelan-McDermid syndrome [RCV001254358]	Chr22:46269281..50740560 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.49181210_50759297del	deletion	Phelan-McDermid syndrome [RCV001254368]	Chr22:49181210..50759297 [GRCh38] Chr22:22q13.33	pathogenic
NC_000022.11:g.44702479_50806138del	deletion	Phelan-McDermid syndrome [RCV001254370]	Chr22:44702479..50806138 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.45708330_50737364del	deletion	Phelan-McDermid syndrome [RCV001254359]	Chr22:45708330..50737364 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.43802117_50806121del	deletion	Phelan-McDermid syndrome [RCV001254364]	Chr22:43802117..50806121 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.43032129_50739836del	deletion	Phelan-McDermid syndrome [RCV001254356]	Chr22:43032129..50739836 [GRCh38] Chr22:22q13.2-13.33	pathogenic
NC_000022.11:g.44245760_50806121del	deletion	Phelan-McDermid syndrome [RCV001254369]	Chr22:44245760..50806121 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.47823120_50759410del	deletion	Phelan-McDermid syndrome [RCV001254355]	Chr22:47823120..50759410 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.47513236_50806138del	deletion	Phelan-McDermid syndrome [RCV001254357]	Chr22:47513236..50806138 [GRCh38] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:49602454-51183869)	copy number loss	Phelan-McDermid syndrome [RCV002280637]	Chr22:49602454..51183869 [GRCh37] Chr22:22q13.33	pathogenic
Single allele	duplication	Chromosome 22q13 duplication syndrome [RCV002280361]	Chr22:49883237..50740457 [GRCh38] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NC_000022.10:g.(?_50644746)_(50668006_?)del	deletion	not provided [RCV001301078]	Chr22:50644746..50668006 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1	copy number loss	not provided [RCV001537924]	Chr22:50099570..51187115 [GRCh37] Chr22:22q13.33	pathogenic
Single allele	deletion	Intellectual disability [RCV001293376]	Chr22:42333802..51195728 [GRCh37] Chr22:22q13.2-13.33	pathogenic
NC_000022.10:g.(?_50297466)_(51066227_?)del	deletion	ALG12-congenital disorder of glycosylation [RCV001384242]	Chr22:50297466..51066227 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	copy number loss	Phelan-McDermid syndrome [RCV001801178]	Chr22:42321321..51244066 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47554026-51186813)x1	copy number loss	not provided [RCV001795845]	Chr22:47554026..51186813 [GRCh37] Chr22:22q13.31-13.33	pathogenic
NC_000022.10:g.(?_50167881)_(51066207_?)dup	duplication	ALG12-congenital disorder of glycosylation [RCV001950618]	Chr22:50167881..51066207 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	copy number loss	not specified [RCV002052757]	Chr22:42972719..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1	copy number loss	not provided [RCV001832912]	Chr22:47567951..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:49729747-51197838)	copy number loss	not specified [RCV002052764]	Chr22:49729747..51197838 [GRCh37] Chr22:22q13.33	pathogenic
NC_000022.10:g.(?_50502853)_(51066207_?)dup	duplication	not provided [RCV001944250]	Chr22:50502853..51066207 [GRCh37] Chr22:22q13.33	uncertain significance
NC_000022.10:g.(?_50500012)_(50682888_?)dup	duplication	not provided [RCV001952769]	Chr22:50500012..50682888 [GRCh37] Chr22:22q13.33	uncertain significance
Single allele	duplication	not provided [RCV002227667]	Chr22:50023390..50594061 [GRCh38] Chr22:22q13.33	uncertain significance
NC_000022.10:g.(?_50167881)_(51066207_?)del	deletion	Metachromatic leukodystrophy [RCV003111291]\|not provided [RCV003111290]	Chr22:50167881..51066207 [GRCh37] Chr22:22q13.33	pathogenic\|no classifications from unflagged records
NC_000022.10:g.(?_50297486)_(51066207_?)del	deletion	not provided [RCV003116314]	Chr22:50297486..51066207 [GRCh37] Chr22:22q13.33	pathogenic
NM_031454.2(SELENOO):c.441G>C (p.Gln147His)	single nucleotide variant	not provided [RCV003123245]	Chr22:50201477 [GRCh38] Chr22:50639906 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.730G>C (p.Val244Leu)	single nucleotide variant	not specified [RCV004305895]	Chr22:50206492 [GRCh38] Chr22:50644921 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	copy number loss	not provided [RCV002472623]	Chr22:44178749..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1	copy number loss	not provided [RCV002472642]	Chr22:45977448..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1	copy number loss	not provided [RCV002472654]	Chr22:45977415..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50636593-50736663)x1	copy number loss	not provided [RCV002472438]	Chr22:50636593..50736663 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	copy number loss	not provided [RCV002473583]	Chr22:44390702..51137629 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	copy number gain	not provided [RCV002468433]	Chr22:43436847..51188164 [GRCh37] Chr22:22q13.2-13.33	pathogenic
NM_031454.2(SELENOO):c.345G>T (p.Glu115Asp)	single nucleotide variant	not specified [RCV004333677]	Chr22:50201381 [GRCh38] Chr22:50639810 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1846G>A (p.Val616Met)	single nucleotide variant	not specified [RCV004283274]	Chr22:50217205 [GRCh38] Chr22:50655634 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1636G>C (p.Glu546Gln)	single nucleotide variant	not specified [RCV004269625]	Chr22:50216824 [GRCh38] Chr22:50655253 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1111G>A (p.Gly371Ser)	single nucleotide variant	not specified [RCV004254629]	Chr22:50210671 [GRCh38] Chr22:50649100 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.352G>T (p.Ala118Ser)	single nucleotide variant	not specified [RCV004249190]	Chr22:50201388 [GRCh38] Chr22:50639817 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.499A>G (p.Thr167Ala)	single nucleotide variant	not specified [RCV004333868]	Chr22:50201535 [GRCh38] Chr22:50639964 [GRCh37] Chr22:22q13.33	likely benign
NM_031454.2(SELENOO):c.970G>A (p.Glu324Lys)	single nucleotide variant	not specified [RCV004277321]	Chr22:50210211 [GRCh38] Chr22:50648640 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1607A>G (p.Gln536Arg)	single nucleotide variant	not specified [RCV004307102]	Chr22:50216795 [GRCh38] Chr22:50655224 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1018A>G (p.Met340Val)	single nucleotide variant	not specified [RCV004278963]	Chr22:50210259 [GRCh38] Chr22:50648688 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1	copy number loss	Chromosome 22q13 duplication syndrome [RCV003329540]	Chr22:50014114..51244066 [GRCh37] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1	copy number loss	Phelan-McDermid syndrome [RCV003327722]	Chr22:49757859..50740457 [GRCh38] Chr22:22q13.33	pathogenic
NM_031454.2(SELENOO):c.503G>A (p.Gly168Asp)	single nucleotide variant	not specified [RCV004340027]	Chr22:50201539 [GRCh38] Chr22:50639968 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.160G>T (p.Ala54Ser)	single nucleotide variant	not specified [RCV004363624]	Chr22:50201196 [GRCh38] Chr22:50639625 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.263C>T (p.Thr88Ile)	single nucleotide variant	not specified [RCV004341319]	Chr22:50201299 [GRCh38] Chr22:50639728 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.671C>T (p.Ser224Phe)	single nucleotide variant	not specified [RCV004353914]	Chr22:50206433 [GRCh38] Chr22:50644862 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.958C>T (p.Arg320Trp)	single nucleotide variant	not specified [RCV004346363]	Chr22:50210199 [GRCh38] Chr22:50648628 [GRCh37] Chr22:22q13.33	likely benign
GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	copy number loss	not provided [RCV003483399]	Chr22:45611226..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	copy number gain	not provided [RCV003485247]	Chr22:45657164..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:49839613-50740220)x3	copy number gain	not provided [RCV003485248]	Chr22:49839613..50740220 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1824C>T (p.Ala608=)	single nucleotide variant	not provided [RCV003437682]	Chr22:50217107 [GRCh38] Chr22:50655536 [GRCh37] Chr22:22q13.33	likely benign
NM_031454.2(SELENOO):c.880G>A (p.Glu294Lys)	single nucleotide variant	not provided [RCV003433333]	Chr22:50208657 [GRCh38] Chr22:50647086 [GRCh37] Chr22:22q13.33	likely benign
GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	copy number loss	not provided [RCV003457366]	Chr22:43820992..51218654 [GRCh37] Chr22:22q13.2-13.33	pathogenic
NM_031454.2(SELENOO):c.105C>G (p.Gly35=)	single nucleotide variant	not provided [RCV003433332]	Chr22:50201141 [GRCh38] Chr22:50639570 [GRCh37] Chr22:22q13.33	likely benign
GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	copy number loss	not specified [RCV003986180]	Chr22:43107363..51156692 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	copy number loss	not specified [RCV003986172]	Chr22:48218869..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	copy number loss	not specified [RCV003986178]	Chr22:44034281..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	copy number loss	Phelan-McDermid syndrome [RCV003986080]	Chr22:44549957..50789329 [GRCh38] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	copy number loss	not specified [RCV003986170]	Chr22:49434634..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	copy number loss	not specified [RCV003986171]	Chr22:44502872..51183871 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	copy number loss	not provided [RCV003885499]	Chr22:49479980..51304566 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	copy number loss	not provided [RCV003885498]	Chr22:49103529..51220722 [GRCh37] Chr22:22q13.32-13.33	pathogenic
NM_031454.2(SELENOO):c.1012G>A (p.Asp338Asn)	single nucleotide variant	not specified [RCV004450372]	Chr22:50210253 [GRCh38] Chr22:50648682 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1102G>A (p.Asp368Asn)	single nucleotide variant	not specified [RCV004450374]	Chr22:50210662 [GRCh38] Chr22:50649091 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1754G>A (p.Arg585His)	single nucleotide variant	not specified [RCV004450397]	Chr22:50217037 [GRCh38] Chr22:50655466 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1768A>G (p.Asn590Asp)	single nucleotide variant	not specified [RCV004450400]	Chr22:50217051 [GRCh38] Chr22:50655480 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.25G>C (p.Gly9Arg)	single nucleotide variant	not specified [RCV004450410]	Chr22:50201061 [GRCh38] Chr22:50639490 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.410C>T (p.Ala137Val)	single nucleotide variant	not specified [RCV004450420]	Chr22:50201446 [GRCh38] Chr22:50639875 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.581G>A (p.Arg194Gln)	single nucleotide variant	not specified [RCV004450422]	Chr22:50206343 [GRCh38] Chr22:50644772 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.685G>A (p.Asp229Asn)	single nucleotide variant	not specified [RCV004450427]	Chr22:50206447 [GRCh38] Chr22:50644876 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.971A>G (p.Glu324Gly)	single nucleotide variant	not specified [RCV004450436]	Chr22:50210212 [GRCh38] Chr22:50648641 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1595G>A (p.Arg532His)	single nucleotide variant	not specified [RCV004450387]	Chr22:50216783 [GRCh38] Chr22:50655212 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1704G>C (p.Lys568Asn)	single nucleotide variant	not specified [RCV004450391]	Chr22:50216987 [GRCh38] Chr22:50655416 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1747C>G (p.His583Asp)	single nucleotide variant	not specified [RCV004450395]	Chr22:50217030 [GRCh38] Chr22:50655459 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1834G>C (p.Asp612His)	single nucleotide variant	not specified [RCV004450402]	Chr22:50217117 [GRCh38] Chr22:50655546 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1853G>A (p.Arg618Gln)	single nucleotide variant	not specified [RCV004450403]	Chr22:50217212 [GRCh38] Chr22:50655641 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.319G>A (p.Gly107Ser)	single nucleotide variant	not specified [RCV004450415]	Chr22:50201355 [GRCh38] Chr22:50639784 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.361G>T (p.Ala121Ser)	single nucleotide variant	not specified [RCV004450416]	Chr22:50201397 [GRCh38] Chr22:50639826 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.128G>C (p.Arg43Pro)	single nucleotide variant	not specified [RCV004450383]	Chr22:50201164 [GRCh38] Chr22:50639593 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1631C>T (p.Ala544Val)	single nucleotide variant	not specified [RCV004450388]	Chr22:50216819 [GRCh38] Chr22:50655248 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1682C>T (p.Ala561Val)	single nucleotide variant	not specified [RCV004450389]	Chr22:50216870 [GRCh38] Chr22:50655299 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1717G>A (p.Ala573Thr)	single nucleotide variant	not specified [RCV004450392]	Chr22:50217000 [GRCh38] Chr22:50655429 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1753C>T (p.Arg585Cys)	single nucleotide variant	not specified [RCV004450396]	Chr22:50217036 [GRCh38] Chr22:50655465 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1756G>A (p.Val586Met)	single nucleotide variant	not specified [RCV004450398]	Chr22:50217039 [GRCh38] Chr22:50655468 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1813A>T (p.Ile605Phe)	single nucleotide variant	not specified [RCV004450401]	Chr22:50217096 [GRCh38] Chr22:50655525 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.719A>C (p.Gln240Pro)	single nucleotide variant	not specified [RCV004450429]	Chr22:50206481 [GRCh38] Chr22:50644910 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1884C>G (p.His628Gln)	single nucleotide variant	not specified [RCV004450404]	Chr22:50217243 [GRCh38] Chr22:50655672 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1954T>C (p.Tyr652His)	single nucleotide variant	not specified [RCV004450406]	Chr22:50217313 [GRCh38] Chr22:50655742 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.281G>A (p.Arg94His)	single nucleotide variant	not specified [RCV004450412]	Chr22:50201317 [GRCh38] Chr22:50639746 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.376G>A (p.Gly126Ser)	single nucleotide variant	not specified [RCV004450417]	Chr22:50201412 [GRCh38] Chr22:50639841 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.550T>C (p.Ser184Pro)	single nucleotide variant	not specified [RCV004450421]	Chr22:50201586 [GRCh38] Chr22:50640015 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.592C>T (p.Arg198Trp)	single nucleotide variant	not specified [RCV004450423]	Chr22:50206354 [GRCh38] Chr22:50644783 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.670T>G (p.Ser224Ala)	single nucleotide variant	not specified [RCV004450425]	Chr22:50206432 [GRCh38] Chr22:50644861 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.688G>A (p.Val230Met)	single nucleotide variant	not specified [RCV004450428]	Chr22:50206450 [GRCh38] Chr22:50644879 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.799A>G (p.Thr267Ala)	single nucleotide variant	not specified [RCV004450430]	Chr22:50208576 [GRCh38] Chr22:50647005 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1694G>A (p.Arg565Gln)	single nucleotide variant	not specified [RCV004450390]	Chr22:50216977 [GRCh38] Chr22:50655406 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1765G>A (p.Ala589Thr)	single nucleotide variant	not specified [RCV004450399]	Chr22:50217048 [GRCh38] Chr22:50655477 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.305C>T (p.Ala102Val)	single nucleotide variant	not specified [RCV004450414]	Chr22:50201341 [GRCh38] Chr22:50639770 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.380A>G (p.Asn127Ser)	single nucleotide variant	not specified [RCV004450418]	Chr22:50201416 [GRCh38] Chr22:50639845 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.5C>T (p.Ala2Val)	single nucleotide variant	not specified [RCV004450424]	Chr22:50201041 [GRCh38] Chr22:50639470 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.85C>T (p.Pro29Ser)	single nucleotide variant	not specified [RCV004450432]	Chr22:50201121 [GRCh38] Chr22:50639550 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.112A>G (p.Met38Val)	single nucleotide variant	not specified [RCV004450377]	Chr22:50201148 [GRCh38] Chr22:50639577 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1234G>C (p.Ala412Pro)	single nucleotide variant	not specified [RCV004450380]	Chr22:50210794 [GRCh38] Chr22:50649223 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1285G>A (p.Val429Met)	single nucleotide variant	not specified [RCV004450381]	Chr22:50210845 [GRCh38] Chr22:50649274 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1285G>T (p.Val429Leu)	single nucleotide variant	not specified [RCV004450382]	Chr22:50210845 [GRCh38] Chr22:50649274 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1553C>T (p.Ala518Val)	single nucleotide variant	not specified [RCV004450385]	Chr22:50216741 [GRCh38] Chr22:50655170 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.300G>T (p.Glu100Asp)	single nucleotide variant	not specified [RCV004450413]	Chr22:50201336 [GRCh38] Chr22:50639765 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.806G>A (p.Arg269His)	single nucleotide variant	not specified [RCV004450431]	Chr22:50208583 [GRCh38] Chr22:50647012 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.935G>A (p.Arg312Gln)	single nucleotide variant	not specified [RCV004450433]	Chr22:50208712 [GRCh38] Chr22:50647141 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.946C>G (p.Arg316Gly)	single nucleotide variant	not specified [RCV004450434]	Chr22:50210187 [GRCh38] Chr22:50648616 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.959G>A (p.Arg320Gln)	single nucleotide variant	not specified [RCV004450435]	Chr22:50210200 [GRCh38] Chr22:50648629 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1000G>A (p.Val334Met)	single nucleotide variant	not specified [RCV004450371]	Chr22:50210241 [GRCh38] Chr22:50648670 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1081G>A (p.Asp361Asn)	single nucleotide variant	not specified [RCV004450373]	Chr22:50210641 [GRCh38] Chr22:50649070 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1114C>T (p.Arg372Cys)	single nucleotide variant	not specified [RCV004450376]	Chr22:50210674 [GRCh38] Chr22:50649103 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1138G>A (p.Glu380Lys)	single nucleotide variant	not specified [RCV004450378]	Chr22:50210698 [GRCh38] Chr22:50649127 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1171G>A (p.Glu391Lys)	single nucleotide variant	not specified [RCV004450379]	Chr22:50210731 [GRCh38] Chr22:50649160 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1445A>G (p.Glu482Gly)	single nucleotide variant	not specified [RCV004450384]	Chr22:50215810 [GRCh38] Chr22:50654239 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1990T>C (p.Cys664Arg)	single nucleotide variant	not specified [RCV004450407]	Chr22:50217349 [GRCh38] Chr22:50655778 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.22C>G (p.Leu8Val)	single nucleotide variant	not specified [RCV004450409]	Chr22:50201058 [GRCh38] Chr22:50639487 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1732G>A (p.Ala578Thr)	single nucleotide variant	not specified [RCV004450393]	Chr22:50217015 [GRCh38] Chr22:50655444 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.1919C>T (p.Thr640Met)	single nucleotide variant	not specified [RCV004450405]	Chr22:50217278 [GRCh38] Chr22:50655707 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.209C>T (p.Ala70Val)	single nucleotide variant	not specified [RCV004450408]	Chr22:50201245 [GRCh38] Chr22:50639674 [GRCh37] Chr22:22q13.33	uncertain significance
NM_031454.2(SELENOO):c.26G>A (p.Gly9Glu)	single nucleotide variant	not specified [RCV004450411]	Chr22:50201062 [GRCh38] Chr22:50639491 [GRCh37] Chr22:22q13.33	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	612
Count of miRNA genes:	453
Interacting mature miRNAs:	499
Transcripts:	ENST00000380903, ENST00000492092
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

SHGC-58240

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	50,641,222 - 50,641,316	UniSTS	GRCh37
Build 36	22	48,983,349 - 48,983,443	RGD	NCBI36
Celera	22	34,516,133 - 34,516,227	RGD
Cytogenetic Map	22	q13.33	UniSTS
HuRef	22	33,538,796 - 33,538,890	UniSTS

RH78658

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	50,637,731 - 50,637,911	UniSTS	GRCh37
Build 36	22	48,979,858 - 48,980,038	RGD	NCBI36
Celera	22	34,512,642 - 34,512,822	RGD
Cytogenetic Map	22	q13.33	UniSTS
HuRef	22	33,535,452 - 33,535,632	UniSTS
GeneMap99-GB4 RH Map	22	175.08	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2429

2779

1721

621

1869

463

4335

2035

3395

408

1442

1598

172

1204

2771

Low

212

162

339

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_031454	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF274946	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL022328	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY324823	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC020510	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC032384	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC051758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC110866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456464	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000380903 ⟹ ENSP00000370288

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	50,201,011 - 50,217,616 (+)	Ensembl

RefSeq Acc Id:

ENST00000492092

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	50,206,442 - 50,217,616 (+)	Ensembl

RefSeq Acc Id:

ENST00000611222 ⟹ ENSP00000483593

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	50,200,979 - 50,217,615 (+)	Ensembl

RefSeq Acc Id:

NM_031454 ⟹ NP_113642

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	50,201,011 - 50,217,616 (+)	NCBI
GRCh37	22	50,639,408 - 50,656,045 (+)	RGD
Build 36	22	48,981,535 - 48,998,172 (+)	NCBI Archive
Celera	22	34,514,319 - 34,530,956 (+)	RGD
HuRef	22	33,542,320 - 33,553,289 (+)	RGD
CHM1_1	22	50,598,148 - 50,614,788 (+)	NCBI
T2T-CHM13v2.0	22	50,707,772 - 50,724,578 (+)	NCBI

Sequence:

show sequence

GGCTTCCGGCGGGAGCGGGGCCGCGGATGGCCGTATACAGGGCAGCGCTCGGGGCTTCGCTCGC
GGCTGCCCGACTCTTGCCCCTCGGTCGCTGTTCCCCGTCGCCGGCGCCCCGCTCTACGTTGTCG
GGCGCCGCCATGGAGCCCGCGCCTCGCTGGCTGGCGGGGCTGCGCTTCGACAACCGCGCCCTGC
GCGCCCTGCCCGTGGAGGCGCCGCCGCCCGGTCCCGAGGGCGCCCCGTCCGCGCCGCGGCCCGT
GCCCGGGGCCTGCTTCACCCGCGTGCAGCCCACCCCGCTGCGGCAGCCGCGCCTCGTGGCGCTG
TCAGAGCCCGCGCTGGCGTTGCTGGGCCTGGGCGCGCCGCCCGCGCGCGAGGCCGAGGCCGAGG
CCGCGCTGTTCTTCAGCGGCAACGCGCTCCTGCCGGGCGCCGAGCCCGCCGCGCACTGCTACTG
CGGCCACCAATTCGGCCAGTTCGCCGGGCAGCTGGGCGACGGCGCCGCCATGTACCTGGGCGAG
GTGTGCACGGCGACCGGCGAGCGCTGGGAGCTGCAGCTCAAGGGCGCCGGGCCCACGCCCTTCT
CCAGACAGGCCGACGGTCGCAAGGTCCTACGGTCAAGCATCCGGGAGTTTCTATGCAGCGAAGC
CATGTTCCACCTGGGAGTCCCCACCACACGGGCCGGCGCCTGCGTCACGTCCGAGTCCACGGTG
GTGCGCGACGTGTTCTATGATGGTAATCCCAAATATGAACAATGCACGGTTGTGTTGCGTGTAG
CTTCCACTTTCATAAGGTTTGGATCCTTTGAGATTTTTAAGTCTGCAGATGAGCACACAGGGCG
TGCAGGCCCCAGCGTGGGGAGGAACGACATTCGAGTGCAGCTGCTCGACTATGTCATCAGCTCC
TTTTACCCCGAGATCCAGGCTGCTCATGCCAGCGACAGCGTGCAGAGAAATGCTGCCTTCTTCC
GGGAGGTGACGCGGCGCACGGCGCGGATGGTGGCCGAGTGGCAGTGTGTGGGCTTCTGCCACGG
CGTGCTCAACACCGACAACATGAGCATCCTGGGGCTCACCATCGACTACGGGCCCTTTGGCTTC
CTGGACAGGTACGACCCCGACCACGTGTGCAATGCCTCCGACAACACCGGCCGCTACGCGTACA
GCAAGCAGCCCGAGGTGTGCAGGTGGAACCTGCGGAAGCTGGCCGAGGCCCTGCAGCCGGAACT
GCCCCTGGAGCTGGGGGAGGCCATCCTGGCCGAGGAGTTTGACGCCGAGTTCCAAAGGCACTAC
CTGCAGAAGATGCGCAGGAAGCTGGGCCTCGTGCAGGTGGAGCTGGAGGAAGACGGGGCGCTGG
TGTCCAAGCTCCTGGAGACCATGCATCTGACCGGTGCCGACTTCACAAACACCTTCTACTTGCT
GAGCTCCTTCCCAGTGGAGCTAGAGTCGCCAGGCCTGGCGGAATTCCTGGCCAGGCTGATGGAG
CAGTGTGCCTCCCTGGAGGAGCTGAGGCTGGCCTTCCGGCCCCAGATGGATCCCCGGCAGCTAT
CCATGATGCTGATGCTGGCGCAGTCAAACCCGCAGCTGTTCGCGCTTATGGGCACCCGGGCAGG
CATCGCCAGGGAGCTGGAGCGTGTGGAGCAGCAGTCTCGGCTGGAGCAGCTGAGTGCGGCAGAG
CTGCAGAGCAGGAACCAGGGCCACTGGGCTGACTGGCTACAGGCGTACAGAGCCCGGCTGGACA
AGGACCTGGAAGGCGCTGGGGACGCTGCCGCCTGGCAGGCTGAGCACGTGCGCGTGATGCACGC
CAACAACCCGAAGTACGTGCTGAGGAACTACATCGCGCAGAATGCCATCGAGGCTGCCGAGCGC
GGGGACTTCTCAGAGGTGCGGCGGGTGCTGAAACTACTGGAGACCCCTTACCACTGCGAGGCGG
GGGCCGCCACAGACGCCGAGGCCACGGAAGCCGACGGGGCGGACGGCAGGCAGCGCTCCTACAG
CAGTAAGCCCCCGCTCTGGGCAGCAGAACTGTGCGTGACATGATCTTCGTAACGGCCTCGGCAC
GCTCCACACCCCTGGAGTCTCCCGAGGCCCCCATGTGCTGCTGAGTGGCCAAGATGATGCCAGG
CTGCCCTATACACTGGGGGATTCTGCCCTGGCCCATGCACACCCGTCTTTCCATGATGGCAGAG
ACATCCAGTCAGGACCTGACCCGTCTCTGTCTGAGGCCGGCTCAGCAGTGCAGCCTGGTCCCTG
GGGGCTGGACCCAGGCTCCTAAATAAACCAGCAACTCCCTCGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_113642	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH01099	(Get FASTA)	NCBI Sequence Viewer
	AAH20510	(Get FASTA)	NCBI Sequence Viewer
	AAI10867	(Get FASTA)	NCBI Sequence Viewer
	AAK07523	(Get FASTA)	NCBI Sequence Viewer
	AAP85540	(Get FASTA)	NCBI Sequence Viewer
	CAG30350	(Get FASTA)	NCBI Sequence Viewer
	EAW73504	(Get FASTA)	NCBI Sequence Viewer
	EAW73505	(Get FASTA)	NCBI Sequence Viewer
	EAW73506	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000370288
	ENSP00000370288.2
GenBank Protein	Q9BVL4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_113642 ⟸ NM_031454

- UniProtKB:

Q5JZ81 (UniProtKB/Swiss-Prot), Q2TAL2 (UniProtKB/Swiss-Prot), Q8WUI0 (UniProtKB/Swiss-Prot), Q9BVL4 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAVYRAALGASLAAARLLPLGRCSPSPAPRSTLSGAAMEPAPRWLAGLRFDNRALRALPVEAPP
PGPEGAPSAPRPVPGACFTRVQPTPLRQPRLVALSEPALALLGLGAPPAREAEAEAALFFSGNA
LLPGAEPAAHCYCGHQFGQFAGQLGDGAAMYLGEVCTATGERWELQLKGAGPTPFSRQADGRKV
LRSSIREFLCSEAMFHLGVPTTRAGACVTSESTVVRDVFYDGNPKYEQCTVVLRVASTFIRFGS
FEIFKSADEHTGRAGPSVGRNDIRVQLLDYVISSFYPEIQAAHASDSVQRNAAFFREVTRRTAR
MVAEWQCVGFCHGVLNTDNMSILGLTIDYGPFGFLDRYDPDHVCNASDNTGRYAYSKQPEVCRW
NLRKLAEALQPELPLELGEAILAEEFDAEFQRHYLQKMRRKLGLVQVELEEDGALVSKLLETMH
LTGADFTNTFYLLSSFPVELESPGLAEFLARLMEQCASLEELRLAFRPQMDPRQLSMMLMLAQS
NPQLFALMGTRAGIARELERVEQQSRLEQLSAAELQSRNQGHWADWLQAYRARLDKDLEGAGDA
AAWQAEHVRVMHANNPKYVLRNYIAQNAIEAAERGDFSEVRRVLKLLETPYHCEAGAATDAEAT
EADGADGRQRSYSSKPPLWAAELCVTUSS

hide sequence

RefSeq Acc Id:

ENSP00000483593 ⟸ ENST00000611222

RefSeq Acc Id:

ENSP00000370288 ⟸ ENST00000380903

Promoters

RGD ID:

6800346

Promoter ID:

HG_KWN:43351

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

UC003BJZ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	48,989,816 - 48,991,167 (+)	MPROMDB

RGD ID:

6815413

Promoter ID:

HG_MRA:10691

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

AF274946

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	48,997,316 - 48,997,816 (+)	MPROMDB

RGD ID:

13604512

Promoter ID:

EPDNEW_H28440

Type:

initiation region

Name:

SELO_1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	50,201,011 - 50,201,071	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:30395	AgrOrtholog
COSMIC	SELENOO	COSMIC
Ensembl Genes	ENSG00000073169	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000380903	ENTREZGENE
	ENST00000380903.7	UniProtKB/Swiss-Prot
GTEx	ENSG00000073169	GTEx
HGNC ID	HGNC:30395	ENTREZGENE
Human Proteome Map	SELENOO	Human Proteome Map
InterPro	SelO	UniProtKB/Swiss-Prot
KEGG Report	hsa:83642	UniProtKB/Swiss-Prot
NCBI Gene	83642	ENTREZGENE
OMIM	607917	OMIM
PANTHER	PROTEIN ADENYLYLTRANSFERASE SELO, MITOCHONDRIAL	UniProtKB/Swiss-Prot
	SELENOPROTEIN O	UniProtKB/Swiss-Prot
Pfam	UPF0061	UniProtKB/Swiss-Prot
PharmGKB	PA166181632	PharmGKB
UniProt	Q2TAL2	ENTREZGENE
	Q5JZ81	ENTREZGENE
	Q8WUI0	ENTREZGENE
	Q9BVL4	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	Q2TAL2	UniProtKB/Swiss-Prot
	Q5JZ81	UniProtKB/Swiss-Prot
	Q8WUI0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-09-27	SELENOO	selenoprotein O	SELO	selenoprotein O	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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