OR13H1 (olfactory receptor family 13 subfamily H member 1)

Gene: OR13H1 (olfactory receptor family 13 subfamily H member 1) Homo sapiens

Analyze

Symbol:

OR13H1

Name:

olfactory receptor family 13 subfamily H member 1

RGD ID:

1344200

HGNC Page

HGNC:14755

Description:

Predicted to enable olfactory receptor activity. Predicted to be involved in detection of chemical stimulus involved in sensory perception of smell. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

olfactory receptor 13H1; olfactory receptor ORX-1; olfactory receptor ORX1; olfactory receptor, family 13, subfamily H, member 1; ORX1

RGD Orthologs

Alliance Genes

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	131,544,074 - 131,545,000 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	131,544,074 - 131,545,000 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	130,678,048 - 130,678,974 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	130,505,729 - 130,506,655 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	130,403,582 - 130,404,509	NCBI
Celera	X	131,064,480 - 131,065,406 (+)	NCBI		Celera
Cytogenetic Map	X	q26.2	NCBI
HuRef	X	120,083,169 - 120,084,531 (+)	NCBI		HuRef
CHM1_1	X	130,589,639 - 130,590,565 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	129,868,257 - 129,869,183 (+)	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)

genetic disease (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

CGP 52608 (EXP)

sunitinib (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

detection of chemical stimulus involved in sensory perception of smell (IBA,IEA)

G protein-coupled receptor signaling pathway (IEA)

sensory perception of smell (IEA)

signal transduction (IEA)

Cellular Component

membrane (IEA)

plasma membrane (IBA,IEA)

Molecular Function

G protein-coupled receptor activity (IEA)

olfactory receptor activity (IBA,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:1370859	PMID:1840504	PMID:9268701	PMID:12213199	PMID:12477932	PMID:12908129	PMID:14983052	PMID:15772651	PMID:21873635

Genomics

Comparative Map Data

OR13H1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	131,544,074 - 131,545,000 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	131,544,074 - 131,545,000 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	130,678,048 - 130,678,974 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	130,505,729 - 130,506,655 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	130,403,582 - 130,404,509	NCBI
Celera	X	131,064,480 - 131,065,406 (+)	NCBI		Celera
Cytogenetic Map	X	q26.2	NCBI
HuRef	X	120,083,169 - 120,084,531 (+)	NCBI		HuRef
CHM1_1	X	130,589,639 - 130,590,565 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	129,868,257 - 129,869,183 (+)	NCBI		T2T-CHM13v2.0

Or13ae2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	73,637,934 - 73,638,881 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	73,636,285 - 73,641,184 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	74,594,328 - 74,595,275 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	74,592,679 - 74,597,578 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	71,839,667 - 71,840,614 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	70,847,048 - 70,847,995 (+)	NCBI		MGSCv36	mm8
Celera	X	65,842,551 - 65,843,498 (+)	NCBI		Celera
Cytogenetic Map	X	A7.3	NCBI
cM Map	X	38.04	NCBI

LOC102029959
(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	NW_004955473	3,409,954 - 3,410,879 (-)	NCBI	ChiLan1.0	ChiLan1.0

LOC100974537
(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	130,970,047 - 130,970,973 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	130,973,656 - 130,974,582 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	120,676,389 - 120,677,457 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	130,984,755 - 130,985,823 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	130,984,847 - 130,985,773 (+)	Ensembl	panpan1.1		panPan2

OR13S1P
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	101,336,152 - 101,346,614 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	101,523,217 - 101,524,171 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	101,982,257 - 101,983,211 (-)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	1	101,621,683 - 101,622,637 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	101,338,452 - 101,339,406 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	102,094,326 - 102,095,280 (-)	NCBI		UU_Cfam_GSD_1.0

LOC101965899
(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	100,813,505 - 100,814,431 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936479	173,064 - 173,990 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936479	173,064 - 173,990 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

LOC100513904
(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	107,894,810 - 107,895,736 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	107,894,520 - 107,895,892 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	123,911,901 - 123,912,843 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LOC103232565
(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	106,728,827 - 106,731,201 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	106,729,682 - 106,731,142 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666065	44,157,575 - 44,158,502 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

LOC101702474
(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 1.0	NW_004624797	11,101,616 - 11,102,542 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in OR13H1
25 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX: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: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)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 Xq23-28(chrX:115417992-156022206)x1	copy number loss	See cases [RCV000051160]	ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1	copy number loss	See cases [RCV000051728]	ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	copy number loss	See cases [RCV000051666]	ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1	copy number loss	See cases [RCV000051729]	ChrX:126537861..155996431 [GRCh38] ChrX:125671844..155226096 [GRCh37] ChrX:125499525..154879290 [NCBI36] ChrX:Xq25-28	pathogenic
GRCh38/hg38 Xq26.1-26.2(chrX:131042072-131826589)x1	copy number loss	See cases [RCV000051730]	ChrX:131042072..131826589 [GRCh38] ChrX:130176046..130960617 [GRCh37] ChrX:130003727..130788298 [NCBI36] ChrX:Xq26.1-26.2	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1	copy number loss	See cases [RCV000051713]	ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	copy number loss	See cases [RCV000051665]	ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq13.2-27.1(chrX:73008114-140201321)x4	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|See cases [RCV000052418]	ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1	pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	copy number gain	See cases [RCV000052445]	ChrX:123731372..155687381 [GRCh38] ChrX:122865222..154917042 [GRCh37] ChrX:122692903..154570236 [NCBI36] ChrX:Xq25-28	pathogenic
GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2	copy number gain	See cases [RCV000052446]	ChrX:128395951..132383344 [GRCh38] ChrX:127529929..131517372 [GRCh37] ChrX:127357610..131345053 [NCBI36] ChrX:Xq25-26.2	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq26.2(chrX:131368904-131826589)x2	copy number gain	See cases [RCV000054248]	ChrX:131368904..131826589 [GRCh38] ChrX:130502878..130960617 [GRCh37] ChrX:130330559..130788298 [NCBI36] ChrX:Xq26.2	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3	copy number gain	See cases [RCV000133744]	ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	copy number loss	See cases [RCV000134570]	ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	copy number gain	See cases [RCV000134025]	ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 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 Xq21.31-28(chrX:92222680-156016920)x1	copy number loss	See cases [RCV000135307]	ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1	copy number loss	See cases [RCV000134947]	ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	copy number loss	See cases [RCV000134958]	ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	copy number loss	See cases [RCV000135552]	ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	copy number loss	See cases [RCV000135454]	ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3	copy number gain	See cases [RCV000136552]	ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 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 Xq21.1-28(chrX:79093152-156003229)x1	copy number loss	See cases [RCV000136083]	ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3	copy number gain	See cases [RCV000136030]	ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28	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 Xq25-28(chrX:128473235-156003229)x1	copy number loss	See cases [RCV000136095]	ChrX:128473235..156003229 [GRCh38] ChrX:127607213..155232894 [GRCh37] ChrX:127434894..154886088 [NCBI36] ChrX:Xq25-28	pathogenic
GRCh38/hg38 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 Xq13.3-28(chrX:75086417-156022206)x1	copy number loss	See cases [RCV000137113]	ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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 Xq11.1-28(chrX:62561604-156003242)x3	copy number gain	See cases [RCV000137553]	ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq26.2(chrX:131386373-131936963)x2	copy number gain	See cases [RCV000137530]	ChrX:131386373..131936963 [GRCh38] ChrX:130520347..131070991 [GRCh37] ChrX:130348028..130898672 [NCBI36] ChrX:Xq26.2	likely benign
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1	copy number loss	See cases [RCV000137415]	ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	copy number loss	See cases [RCV000137138]	ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1	copy number loss	See cases [RCV000137167]	ChrX:123793526..156022206 [GRCh38] ChrX:122927376..155251871 [GRCh37] ChrX:122755057..154905065 [NCBI36] ChrX:Xq25-28	pathogenic\|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	copy number gain	See cases [RCV000138020]	ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3	copy number gain	See cases [RCV000138145]	ChrX:117260292..140201321 [GRCh38] ChrX:116394255..139283477 [GRCh37] ChrX:116278283..139111143 [NCBI36] ChrX:Xq23-27.1	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1	copy number loss	See cases [RCV000137887]	ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	copy number loss	See cases [RCV000138787]	ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 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 Xq22.3-28(chrX:106465610-156003242)x1	copy number loss	See cases [RCV000138541]	ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	copy number loss	See cases [RCV000139400]	ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 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 Xq21.31-28(chrX:88339926-156003242)x1	copy number loss	See cases [RCV000139351]	ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28	pathogenic\|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	copy number gain	See cases [RCV000139416]	ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	copy number loss	See cases [RCV000141825]	ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	copy number loss	See cases [RCV000142016]	ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1	copy number loss	See cases [RCV000141743]	ChrX:119297670..156004066 [GRCh38] ChrX:118431633..155233731 [GRCh37] ChrX:118315661..154886925 [NCBI36] ChrX:Xq24-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	copy number loss	See cases [RCV000142337]	ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1	copy number loss	See cases [RCV000142190]	ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1	copy number loss	See cases [RCV000142137]	ChrX:118856574..156004066 [GRCh38] ChrX:117990537..155233731 [GRCh37] ChrX:117874565..154886925 [NCBI36] ChrX:Xq24-28	pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1	copy number loss	See cases [RCV000142037]	ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1	copy number loss	See cases [RCV000142577]	ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	copy number loss	See cases [RCV000143349]	ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	copy number loss	See cases [RCV000143424]	ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 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-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 Xq13.3-28(chrX:76557425-156004066)x1	copy number loss	See cases [RCV000143132]	ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	copy number gain	See cases [RCV000240143]	ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:129760788-132675352)x0	copy number loss	See cases [RCV000239967]	ChrX:129760788..132675352 [GRCh37] ChrX:Xq26.1-26.2	pathogenic
GRCh37/hg19 Xq26.2(chrX:130418587-131014440)x3	copy number gain	See cases [RCV000511326]	ChrX:130418587..131014440 [GRCh37] ChrX:Xq26.2	uncertain significance
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 Xp11.21-q28(chrX:56457791-155233731)x3	copy number gain	See cases [RCV000511307]	ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-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 Xq26.1-26.2(chrX:129796796-132686500)x0	copy number loss	See cases [RCV000240002]	ChrX:129796796..132686500 [GRCh37] ChrX:Xq26.1-26.2	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 Xq26.1-26.2(chrX:129863980-130725078)x2	copy number gain	See cases [RCV000240266]	ChrX:129863980..130725078 [GRCh37] ChrX:Xq26.1-26.2	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 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 Xq11.1-28(chrX:62063537-155250222)x3	copy number gain	See cases [RCV000240148]	ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	copy number loss	See cases [RCV000240337]	ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001004486.1(OR13H1):c.454T>C (p.Ser152Pro)	single nucleotide variant	Inborn genetic diseases [RCV003244144]	ChrX:131544527 [GRCh38] ChrX:130678501 [GRCh37] ChrX:Xq26.2	uncertain significance
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	copy number loss	See cases [RCV000449365]	ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3	copy number gain	See cases [RCV000446471]	ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1	copy number loss	See cases [RCV000447490]	ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3	copy number gain	See cases [RCV000446151]	ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1	copy number loss	See cases [RCV000445891]	ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710)x2	copy number gain	See cases [RCV000448112]	ChrX:126307810..131646710 [GRCh37] ChrX:Xq25-26.2	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1	copy number loss	See cases [RCV000448870]	ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1	copy number loss	See cases [RCV000448724]	ChrX:126773628..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	copy number gain	See cases [RCV000448394]	ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1	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 Xq25-26.2(chrX:123108906-133026079)x3	copy number gain	See cases [RCV000448069]	ChrX:123108906..133026079 [GRCh37] ChrX:Xq25-26.2	likely 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 Xp11.21-q28(chrX:55000501-155230750)x3	copy number gain	See cases [RCV000511787]	ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	copy number loss	See cases [RCV000511413]	ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28	pathogenic\|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	copy number loss	See cases [RCV000511572]	ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	copy number loss	See cases [RCV000511936]	ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	copy number loss	See cases [RCV000511482]	ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	copy number loss	See cases [RCV000511490]	ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	copy number loss	See cases [RCV000510820]	ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
NM_001004486.1(OR13H1):c.485C>A (p.Ser162Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003248563]	ChrX:131544558 [GRCh38] ChrX:130678532 [GRCh37] ChrX:Xq26.2	uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	copy number gain	See cases [RCV000512365]	ChrX:96499476..151870013 [GRCh37] ChrX:Xq21.33-28	uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	copy number loss	See cases [RCV000512372]	ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:130158315-130891328)x3	copy number gain	See cases [RCV000512574]	ChrX:130158315..130891328 [GRCh37] ChrX:Xq26.1-26.2	likely benign
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	copy number gain	See cases [RCV000512173]	ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	copy number loss	not provided [RCV000684386]	ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1	copy number loss	not provided [RCV000684387]	ChrX:126759247..135790885 [GRCh37] ChrX:Xq25-26.3	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	copy number loss	not provided [RCV000684373]	ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	copy number loss	not provided [RCV000684357]	ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:130275176-131011974)x3	copy number gain	not provided [RCV000684391]	ChrX:130275176..131011974 [GRCh37] ChrX:Xq26.1-26.2	likely benign
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	copy number loss	not provided [RCV000684363]	ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3	copy number gain	not provided [RCV000684377]	ChrX:117998704..140159954 [GRCh37] ChrX:Xq24-27.1	pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1	copy number loss	not provided [RCV000684380]	ChrX:120777368..139345946 [GRCh37] ChrX:Xq24-27.1	pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:130285426-131051012)x3	copy number gain	not provided [RCV000753775]	ChrX:130285426..131051012 [GRCh37] ChrX:Xq26.1-26.2	benign
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 Xq13.2-28(chrX:73472626-155254881)x1	copy number loss	not provided [RCV000753606]	ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [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
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1	copy number loss	not provided [RCV000753556]	ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28	pathogenic
NM_001004486.1(OR13H1):c.77C>T (p.Thr26Met)	single nucleotide variant	not provided [RCV000896353]	ChrX:131544150 [GRCh38] ChrX:130678124 [GRCh37] ChrX:Xq26.2	likely benign
NM_001004486.1(OR13H1):c.340C>T (p.Leu114=)	single nucleotide variant	not provided [RCV000895038]	ChrX:131544413 [GRCh38] ChrX:130678387 [GRCh37] ChrX:Xq26.2	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
NM_001004486.1(OR13H1):c.191G>A (p.Ser64Asn)	single nucleotide variant	Inborn genetic diseases [RCV002568476]\|not provided [RCV001573805]	ChrX:131544264 [GRCh38] ChrX:130678238 [GRCh37] ChrX:Xq26.2	likely benign\|uncertain significance
NM_001004486.1(OR13H1):c.313T>C (p.Leu105=)	single nucleotide variant	not provided [RCV000928037]	ChrX:131544386 [GRCh38] ChrX:130678360 [GRCh37] ChrX:Xq26.2	likely benign
NM_001004486.1(OR13H1):c.893G>A (p.Arg298Gln)	single nucleotide variant	not provided [RCV000950882]	ChrX:131544966 [GRCh38] ChrX:130678940 [GRCh37] ChrX:Xq26.2	benign
NM_001004486.1(OR13H1):c.240G>A (p.Gln80=)	single nucleotide variant	not provided [RCV000905472]	ChrX:131544313 [GRCh38] ChrX:130678287 [GRCh37] ChrX:Xq26.2	benign
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	copy number loss	not provided [RCV000846958]	ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)	copy number loss	Nystagmus 1, congenital, X-linked [RCV000767808]	ChrX:130280298..132670366 [GRCh37] ChrX:Xq26.1-26.2	pathogenic
NM_001004486.1(OR13H1):c.176T>A (p.Ile59Asn)	single nucleotide variant	not provided [RCV000902895]	ChrX:131544249 [GRCh38] ChrX:130678223 [GRCh37] ChrX:Xq26.2	benign
GRCh37/hg19 Xq26.1-26.2(chrX:130071456-130886364)x2	copy number gain	not provided [RCV000849916]	ChrX:130071456..130886364 [GRCh37] ChrX:Xq26.1-26.2	uncertain significance
GRCh37/hg19 Xq26.1-26.2(chrX:130152544-130894737)x3	copy number gain	not provided [RCV000849709]	ChrX:130152544..130894737 [GRCh37] ChrX:Xq26.1-26.2	uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	copy number loss	not provided [RCV000849097]	ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	copy number loss	not provided [RCV001007322]	ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	copy number loss	not provided [RCV000845672]	ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	copy number loss	not provided [RCV000848218]	ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	copy number loss	Premature ovarian insufficiency [RCV000852349]	ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28	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
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	copy number loss	not provided [RCV000847838]	ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
NM_001004486.1(OR13H1):c.161A>G (p.Asn54Ser)	single nucleotide variant	Inborn genetic diseases [RCV003270832]	ChrX:131544234 [GRCh38] ChrX:130678208 [GRCh37] ChrX:Xq26.2	uncertain significance
GRCh37/hg19 Xq26.1-26.2(chrX:130158315-130891325)x3	copy number gain	not provided [RCV001007347]	ChrX:130158315..130891325 [GRCh37] ChrX:Xq26.1-26.2	uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	copy number loss	not provided [RCV001007318]	ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	copy number loss	Intellectual disability [RCV001249592]	ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28	likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	copy number loss	See cases [RCV002285075]	ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	copy number loss	not provided [RCV001259012]	ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	copy number gain	See cases [RCV001263024]	ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq26.2(chrX:130483014-131224642)x3	copy number gain	not provided [RCV001260045]	ChrX:130483014..131224642 [GRCh37] ChrX:Xq26.2	uncertain significance
GRCh37/hg19 Xq26.2(chrX:130615694-131152624)x2	copy number gain	not provided [RCV001259506]	ChrX:130615694..131152624 [GRCh37] ChrX:Xq26.2	likely benign
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	copy number loss	Turner syndrome [RCV002280672]	ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	copy number gain	not provided [RCV001281359]	ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-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
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
GRCh37/hg19 Xq26.2(chrX:130518776-130817476)x2	copy number gain	not provided [RCV001827606]	ChrX:130518776..130817476 [GRCh37] ChrX:Xq26.2	uncertain significance
GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710)	copy number gain	not specified [RCV002053180]	ChrX:126307810..131646710 [GRCh37] ChrX:Xq25-26.2	pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:130299561-131090813)	copy number gain	not specified [RCV002053182]	ChrX:130299561..131090813 [GRCh37] ChrX:Xq26.1-26.2	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:130158315-130891909)	copy number gain	not specified [RCV002053181]	ChrX:130158315..130891909 [GRCh37] ChrX:Xq26.1-26.2	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	not provided [RCV001829212]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:130158316-130891328)x2	copy number gain	not provided [RCV001827702]	ChrX:130158316..130891328 [GRCh37] ChrX:Xq26.1-26.2	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	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 Xq26.1-26.2(chrX:129711889-132794615)x3	copy number gain	See cases [RCV002292209]	ChrX:129711889..132794615 [GRCh37] ChrX:Xq26.1-26.2	pathogenic
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	copy number loss	not provided [RCV002474567]	ChrX:124749464..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
NM_001004486.1(OR13H1):c.44T>C (p.Ile15Thr)	single nucleotide variant	Inborn genetic diseases [RCV002970365]	ChrX:131544117 [GRCh38] ChrX:130678091 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001004486.1(OR13H1):c.274C>T (p.Leu92Phe)	single nucleotide variant	Inborn genetic diseases [RCV002688935]	ChrX:131544347 [GRCh38] ChrX:130678321 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001004486.1(OR13H1):c.832G>A (p.Gly278Arg)	single nucleotide variant	Inborn genetic diseases [RCV002691957]	ChrX:131544905 [GRCh38] ChrX:130678879 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001004486.1(OR13H1):c.816T>A (p.Phe272Leu)	single nucleotide variant	Inborn genetic diseases [RCV002951701]	ChrX:131544889 [GRCh38] ChrX:130678863 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001004486.1(OR13H1):c.44T>G (p.Ile15Ser)	single nucleotide variant	Inborn genetic diseases [RCV002911715]	ChrX:131544117 [GRCh38] ChrX:130678091 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001004486.1(OR13H1):c.836C>A (p.Ala279Asp)	single nucleotide variant	Inborn genetic diseases [RCV003000287]	ChrX:131544909 [GRCh38] ChrX:130678883 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001004486.1(OR13H1):c.818T>A (p.Ile273Asn)	single nucleotide variant	Inborn genetic diseases [RCV002951702]	ChrX:131544891 [GRCh38] ChrX:130678865 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001004486.1(OR13H1):c.713C>A (p.Thr238Asn)	single nucleotide variant	Inborn genetic diseases [RCV002665643]	ChrX:131544786 [GRCh38] ChrX:130678760 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001004486.1(OR13H1):c.226G>C (p.Ala76Pro)	single nucleotide variant	Inborn genetic diseases [RCV003209615]	ChrX:131544299 [GRCh38] ChrX:130678273 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001004486.1(OR13H1):c.32A>G (p.Gln11Arg)	single nucleotide variant	Inborn genetic diseases [RCV003209616]	ChrX:131544105 [GRCh38] ChrX:130678079 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001004486.1(OR13H1):c.872T>C (p.Leu291Pro)	single nucleotide variant	Inborn genetic diseases [RCV003175137]	ChrX:131544945 [GRCh38] ChrX:130678919 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001004486.1(OR13H1):c.766T>C (p.Ser256Pro)	single nucleotide variant	Inborn genetic diseases [RCV003309488]	ChrX:131544839 [GRCh38] ChrX:130678813 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001004486.1(OR13H1):c.892C>T (p.Arg298Trp)	single nucleotide variant	Inborn genetic diseases [RCV003340237]	ChrX:131544965 [GRCh38] ChrX:130678939 [GRCh37] ChrX:Xq26.2	uncertain significance
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	copy number loss	not provided [RCV003483929]	ChrX:118576752..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	copy number loss	not provided [RCV003483930]	ChrX:119071609..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq26.1-26.3(chrX:129627661-135812056)x1	copy number loss	not provided [RCV003483932]	ChrX:129627661..135812056 [GRCh37] ChrX:Xq26.1-26.3	pathogenic
NM_001004486.1(OR13H1):c.733A>C (p.Thr245Pro)	single nucleotide variant	not provided [RCV003439849]	ChrX:131544806 [GRCh38] ChrX:130678780 [GRCh37] ChrX:Xq26.2	likely benign
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	copy number loss	not specified [RCV003986202]	ChrX:103405294..155233731 [GRCh37] ChrX:Xq22.2-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	copy number loss	not specified [RCV003986220]	ChrX:119395676..154930047 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:130158316-130891328)	copy number gain	not specified [RCV003986311]	ChrX:130158316..130891328 [GRCh37] ChrX:Xq26.1-26.2	uncertain significance
GRCh37/hg19 Xq26.1-26.2(chrX:130158315-130891328)	copy number gain	not specified [RCV003986215]	ChrX:130158315..130891328 [GRCh37] ChrX:Xq26.1-26.2	uncertain significance
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	copy number gain	not provided [RCV003885530]	ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28	pathogenic
NM_001004486.1(OR13H1):c.8T>C (p.Met3Thr)	single nucleotide variant	Inborn genetic diseases [RCV003341292]	ChrX:131544081 [GRCh38] ChrX:130678055 [GRCh37] ChrX:Xq26.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	124
Count of miRNA genes:	123
Interacting mature miRNAs:	124
Transcripts:	ENST00000338616
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

OR13H1__5964

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	130,678,251 - 130,678,873	UniSTS	GRCh37
Build 36	X	130,505,932 - 130,506,554	RGD	NCBI36
Celera	X	131,064,683 - 131,065,305	RGD
HuRef	X	120,083,372 - 120,084,430	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	adipose tissue	appendage	entire extraembryonic component
High
Medium
Low	1				3		7	2		1	7					1
Below cutoff	76	62	89	22	46	20	228	40	193	12	107	77	5	14	127

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_021190	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001004486	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB065938	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF399633	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL049734	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284421	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284422	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284423	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284424	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284425	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284426	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284428	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284429	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284430	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284431	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284432	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284433	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284434	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284436	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284437	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284438	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284440	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284441	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284443	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284444	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284446	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284447	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284448	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284449	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284451	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY284452	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC137050	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BK004524	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471107	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KP290521	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000338616 ⟹ ENSP00000340748

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	131,544,074 - 131,545,000 (+)	Ensembl

RefSeq Acc Id:

NM_001004486 ⟹ NP_001004486

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	131,544,074 - 131,545,000 (+)	NCBI
GRCh37	X	130,678,048 - 130,678,974 (+)	RGD
Build 36	X	130,505,729 - 130,506,655 (+)	NCBI Archive
Celera	X	131,064,480 - 131,065,406 (+)	RGD
HuRef	X	120,083,169 - 120,084,531 (+)	RGD
CHM1_1	X	130,589,639 - 130,590,565 (+)	NCBI
T2T-CHM13v2.0	X	129,868,257 - 129,869,183 (+)	NCBI

Sequence:

show sequence

ATGGCCATGGACAATGTCACAGCAGTGTTTCAGTTTCTCCTTATTGGCATTTCTAACTATCCTC
AATGGAGAGACACGTTTTTCACATTAGTGCTGATAATTTACCTCAGCACATTGTTGGGGAATGG
ATTTATGATCTTTCTTATTCACTTTGACCCCAACCTCCACACTCCAATCTACTTCTTCCTTAGT
AACCTGTCTTTCTTAGACCTTTGTTATGGAACAGCTTCCATGCCCCAGGCTTTGGTGCATTGTT
TCTCTACCCATCCCTACCTCTCTTATCCCCGATGTTTGGCTCAAACGAGTGTCTCCTTGGCTTT
GGCCACAGCAGAGTGCCTCCTACTGGCTGCCATGGCCTATGACCGTGTGGTTGCTATCAGCAAT
CCCCTGCGTTATTCAGTGGTTATGAATGGCCCAGTATGTGTCTGCTTGGTTGCTACCTCATGGG
GGACATCACTTGTGCTCACTGCCATGCTCATCCTATCCCTGAGGCTTCACTTCTGTGGGGCTAA
TGTCATCAACCATTTTGCCTGTGAGATTCTCTCCCTCATTAAGCTGACCTGTTCTGATACCAGC
CTCAATGAATTTATGATCCTCATCACCAGTATCTTCACCCTGCTGCTACCATTTGGGTTTGTTC
TCCTCTCCTACATACGAATTGCTATGGCTATCATAAGGATTCGCTCACTCCAGGGCAGGCTCAA
GGCCTTTACCACATGTGGCTCTCACCTGACCGTGGTGACAATCTTCTATGGGTCAGCCATCTCC
ATGTATATGAAAACTCAGTCCAAGTCCTACCCTGACCAGGACAAGTTTATCTCAGTGTTTTATG
GAGCTTTGACACCCATGTTGAACCCCCTGATATATAGCCTGAGAAAAAAAGATGTTAAACGGGC
AATAAGGAAAGTTATGTTGAAAAGGACATGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001004486	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI37051	(Get FASTA)	NCBI Sequence Viewer
	AAK95118	(Get FASTA)	NCBI Sequence Viewer
	ALI87682	(Get FASTA)	NCBI Sequence Viewer
	BAC06153	(Get FASTA)	NCBI Sequence Viewer
	DAA04922	(Get FASTA)	NCBI Sequence Viewer
	EAX11790	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000340748
	ENSP00000340748.3
GenBank Protein	Q8NG92	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001004486 ⟸ NM_001004486

- UniProtKB:

Q6IET8 (UniProtKB/Swiss-Prot), B2RNQ3 (UniProtKB/Swiss-Prot), Q96R12 (UniProtKB/Swiss-Prot), Q8NG92 (UniProtKB/Swiss-Prot), A0A126GW70 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAMDNVTAVFQFLLIGISNYPQWRDTFFTLVLIIYLSTLLGNGFMIFLIHFDPNLHTPIYFFLS
NLSFLDLCYGTASMPQALVHCFSTHPYLSYPRCLAQTSVSLALATAECLLLAAMAYDRVVAISN
PLRYSVVMNGPVCVCLVATSWGTSLVLTAMLILSLRLHFCGANVINHFACEILSLIKLTCSDTS
LNEFMILITSIFTLLLPFGFVLLSYIRIAMAIIRIRSLQGRLKAFTTCGSHLTVVTIFYGSAIS
MYMKTQSKSYPDQDKFISVFYGALTPMLNPLIYSLRKKDVKRAIRKVMLKRT

hide sequence

RefSeq Acc Id:

ENSP00000340748 ⟸ ENST00000338616

Protein Domains

G-protein coupled receptors family 1 profile

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NG92-F1-model_v2	AlphaFold	Q8NG92	1-308	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	OR13H1	COSMIC
Ensembl Genes	ENSG00000171054	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000338616	ENTREZGENE
	ENST00000338616.6	UniProtKB/Swiss-Prot
Gene3D-CATH	Rhodopsin 7-helix transmembrane proteins	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000171054	GTEx
HGNC ID	HGNC:14755	ENTREZGENE
Human Proteome Map	OR13H1	Human Proteome Map
InterPro	GPCR_Rhodpsn	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GPCR_Rhodpsn_7TM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Olfact_rcpt	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:347468	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	347468	ENTREZGENE
PANTHER	OLFACTORY RECEPTOR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	OLFACTORY RECEPTOR 13H1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	7tm_4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA32047	PharmGKB
PRINTS	GPCRRHODOPSN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	OLFACTORYR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	G_PROTEIN_RECEP_F1_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Family A G protein-coupled receptor-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A126GW70	ENTREZGENE, UniProtKB/TrEMBL
	B2RNQ3	ENTREZGENE
	O13H1_HUMAN	UniProtKB/Swiss-Prot
	Q6IET8	ENTREZGENE
	Q8NG92	ENTREZGENE
	Q96R12	ENTREZGENE
UniProt Secondary	B2RNQ3	UniProtKB/Swiss-Prot
	Q6IET8	UniProtKB/Swiss-Prot
	Q96R12	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-15	OR13H1	olfactory receptor family 13 subfamily H member 1	OR13H1	olfactory receptor, family 13, subfamily H, member 1	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)

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