ZFPM2 (zinc finger protein, FOG family member 2)

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Gene: ZFPM2 (zinc finger protein, FOG family member 2) Homo sapiens

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Symbol:

ZFPM2

Name:

zinc finger protein, FOG family member 2

RGD ID:

1314398

HGNC Page

HGNC:16700

Description:

Enables RNA polymerase II-specific DNA-binding transcription factor binding activity; transcription coactivator activity; and transcription corepressor activity. Involved in cardiac chamber morphogenesis; fat cell differentiation; and regulation of transcription by RNA polymerase II. Located in nucleoplasm. Implicated in 46,XY sex reversal 9; congenital diaphragmatic hernia; myelodysplastic syndrome; and tetralogy of Fallot.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DIH3; FOG-2; FOG2; friend of GATA 2; friend of GATA protein 2; Friend of GATA2; hFOG-2; MGC129663; MGC129664; SRXY9; transcription factor GATA4, modulator of; ZC2HC11B; zinc finger protein 89B; zinc finger protein ZFPM2; zinc finger protein, multitype 2; ZNF89B

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Candidate Gene For:

GLUCO144_H

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	8	105,318,438 - 105,804,539 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	104,590,733 - 105,804,539 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	106,330,666 - 106,816,767 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	106,400,323 - 106,885,943 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	106,400,322 - 106,885,941	NCBI
Celera	8	102,518,281 - 103,003,726 (+)	NCBI		Celera
Cytogenetic Map	8	q23.1	NCBI
HuRef	8	101,532,803 - 102,138,045 (+)	NCBI		HuRef
CHM1_1	8	106,371,762 - 106,857,264 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	106,445,857 - 106,932,108 (+)	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

46,XY sex reversal 3 (IAGP)

46,XY sex reversal 9 (IAGP)

atrial heart septal defect (ISO)

cardiomyopathy (HEP)

Cohen syndrome (IAGP)

congenital diaphragmatic hernia (ISS)

congestive heart failure (ISO)

Diaphragmatic Hernia (EXP)

Diaphragmatic Hernia 3 (EXP,IAGP)

dilated cardiomyopathy (ISO)

double outlet right ventricle (IAGP)

genetic disease (IAGP)

myelodysplastic syndrome (IAGP)

Perinatal Death (ISO)

tetralogy of Fallot (EXP,IAGP,IDA,ISS)

tricuspid atresia (ISO,ISS)

Venous Thromboembolism (IAGP)

ventricular septal defect (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane (EXP)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (ISO)

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

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

2-palmitoylglycerol (EXP)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (EXP,ISO)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

alpha-Zearalanol (ISO)

antirheumatic drug (EXP)

aristolochic acid A (EXP)

arsenous acid (EXP)

benzo[a]pyrene (EXP)

benzo[a]pyrene diol epoxide I (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

CGP 52608 (EXP)

cocaine (ISO)

cyclosporin A (EXP)

cytarabine (EXP)

DDT (EXP)

diarsenic trioxide (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

fenvalerate (ISO)

folic acid (ISO)

formaldehyde (EXP)

fulvestrant (EXP)

genistein (EXP)

glufosinate (ISO)

malathion (EXP)

methylmercury chloride (EXP)

N-ethyl-N-nitrosourea (ISO)

nickel atom (EXP)

nickel dichloride (EXP)

p-chloromercuribenzoic acid (EXP)

paracetamol (EXP,ISO)

perfluorooctanoic acid (ISO)

phenylephrine (ISO)

phenylmercury acetate (EXP)

SB 431542 (EXP)

silicon dioxide (EXP)

silver atom (ISO)

silver(0) (ISO)

sodium arsenite (EXP)

Soman (ISO)

testosterone (EXP)

tetrachloromethane (ISO)

trichostatin A (EXP)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

anatomical structure morphogenesis (IEA)

cardiac muscle tissue development (IEA,ISO)

cell differentiation (IBA,IEA)

embryonic organ development (IEA,ISO)

fat cell differentiation (IEA,IMP)

gonadal mesoderm development (IEA)

heart development (IBA,IEA,ISO)

in utero embryonic development (IEA,ISO)

lung development (IEA,ISO)

negative regulation of DNA-templated transcription (IDA)

negative regulation of fat cell differentiation (IEA)

negative regulation of female gonad development (IEA)

negative regulation of transcription by RNA polymerase II (IBA,IDA,IEA,ISO)

outflow tract septum morphogenesis (IMP)

positive regulation of cardiac muscle cell proliferation (IEA,ISS)

positive regulation of DNA-templated transcription (IEA)

positive regulation of male gonad development (IEA)

positive regulation of transcription by RNA polymerase II (IBA,IDA,IEA,ISO)

regulation of transcription by RNA polymerase II (IEA)

right ventricular cardiac muscle tissue morphogenesis (IMP)

vasculogenesis (IEA,ISO)

ventricular septum morphogenesis (IMP)

Cellular Component

chromatin (ISA)

cytoplasm (IEA)

male germ cell nucleus (IEA)

nucleoplasm (IDA,TAS)

nucleus (IBA,IEA)

Molecular Function

DNA binding (IEA)

metal ion binding (IEA)

protein binding (IPI,ISO)

RNA polymerase II-specific DNA-binding transcription factor binding (IEA,IPI)

transcription coactivator activity (IDA)

transcription corepressor activity (IDA,IEA)

zinc ion binding (NAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal cardiovascular system morphology (IAGP)

Abnormal internal genitalia (IAGP)

Abnormal labia morphology (IAGP)

Abnormal nasal morphology (IAGP)

Abnormal scrotum morphology (IAGP)

Abnormal sex determination (IAGP)

Abnormal vagina morphology (IAGP)

Absence of secondary sex characteristics (IAGP)

Adrenal insufficiency (IAGP)

Ambiguous genitalia (IAGP)

Aplasia/Hypoplasia of the diaphragm (IAGP)

Autistic behavior (IAGP)

Autosomal dominant inheritance (IAGP)

Azoospermia (IAGP)

Brachydactyly (IAGP)

Broad forehead (IAGP)

Clinodactyly of the 5th finger (IAGP)

Clitoral hypertrophy (IAGP)

Congenital diaphragmatic hernia (IAGP)

Congenital onset (IAGP)

Cryptorchidism (IAGP)

Decreased fertility in females (IAGP)

Decreased serum estradiol (IAGP)

Decreased serum testosterone concentration (IAGP)

Decreased testicular size (IAGP)

Delayed puberty (IAGP)

Delayed skeletal maturation (IAGP)

Dolichocephaly (IAGP)

Double outlet right ventricle (IAGP)

Elevated circulating follicle stimulating hormone level (IAGP)

Elevated circulating luteinizing hormone level (IAGP)

Female external genitalia in individual with 46,XY karyotype (IAGP)

Fused labia minora (IAGP)

Gonadal dysgenesis (IAGP)

Gonadoblastoma (IAGP)

Gynecomastia (IAGP)

Hypergonadotropic hypogonadism (IAGP)

Hypoplasia of penis (IAGP)

Hypoplasia of the vagina (IAGP)

Hypospadias (IAGP)

Hypoxemia (IAGP)

Increased circulating gonadotropin level (IAGP)

Intestinal malrotation (IAGP)

Intrauterine growth retardation (IAGP)

Male infertility (IAGP)

Micropenis (IAGP)

Nephroblastoma (IAGP)

Nephrotic syndrome (IAGP)

Osteoporosis (IAGP)

Ovarian gonadoblastoma (IAGP)

Preauricular pit (IAGP)

Primary amenorrhea (IAGP)

Primary gonadal insufficiency (IAGP)

Prominent sternum (IAGP)

Proptosis (IAGP)

Pulmonary hypoplasia (IAGP)

Respiratory distress (IAGP)

Sex reversal (IAGP)

Sparse axillary hair (IAGP)

Sparse pubic hair (IAGP)

Streak ovary (IAGP)

Testicular gonadoblastoma (IAGP)

Tetralogy of Fallot (IAGP)

Thin vermilion border (IAGP)

Underdeveloped supraorbital ridges (IAGP)

Urogenital sinus anomaly (IAGP)

Vanishing testis (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	AML1-FOG2 fusion protein in myelodysplasia.	Chan EM, etal., Blood. 2005 Jun 1;105(11):4523-6. Epub 2005 Feb 10.
2.	FOG-2 mediated recruitment of the NuRD complex regulates cardiomyocyte proliferation during heart development.	Garnatz AS, etal., Dev Biol. 2014 Nov 1;395(1):50-61. doi: 10.1016/j.ydbio.2014.08.030. Epub 2014 Sep 6.
3.	Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor.	Klarin D, etal., Circ Cardiovasc Genet. 2017 Apr;10(2):e001643. doi: 10.1161/CIRCGENETICS.116.001643.
4.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
5.	Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.	Pizzuti A, etal., Hum Mutat. 2003 Nov;22(5):372-7.
6.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
8.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9.	Increased FOG-2 in failing myocardium disrupts thyroid hormone-dependent SERCA2 gene transcription.	Rouf R, etal., Circ Res. 2008 Aug 29;103(5):493-501. doi: 10.1161/CIRCRESAHA.108.181487. Epub 2008 Jul 25.
10.	CpG island shore methylation of ZFPM2 is identified in tetralogy of fallot samples.	Sheng W, etal., Pediatr Res. 2016 Jul;80(1):151-8. doi: 10.1038/pr.2016.42. Epub 2016 Mar 9.
11.	A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2.	Svensson EC, etal., Nat Genet. 2000 Jul;25(3):353-6. doi: 10.1038/77146.

Additional References at PubMed

PMID:2470247	PMID:9927675	PMID:10329627	PMID:10438528	PMID:10801815	PMID:11297508	PMID:12477932	PMID:12606418	PMID:14985365	PMID:15220332	PMID:15489334	PMID:15643620
PMID:16103912	PMID:16713569	PMID:17309641	PMID:17568391	PMID:18067919	PMID:18252717	PMID:19274049	PMID:19723756	PMID:20005803	PMID:20206639	PMID:20301533	PMID:20379614
PMID:20705609	PMID:20807224	PMID:21220346	PMID:21525063	PMID:21653829	PMID:21658281	PMID:21739578	PMID:21757650	PMID:21873635	PMID:21919901	PMID:21947317	PMID:21988832
PMID:22139419	PMID:22558309	PMID:22570617	PMID:23029311	PMID:23082233	PMID:23453885	PMID:23870195	PMID:24057671	PMID:24179092	PMID:24469719	PMID:24549039	PMID:24702427
PMID:24743694	PMID:24769157	PMID:25025186	PMID:25178676	PMID:26207917	PMID:26972000	PMID:27432908	PMID:27634302	PMID:29018978	PMID:29972125	PMID:31919993	PMID:31962012
PMID:32296183	PMID:32633364	PMID:32814053	PMID:33340546	PMID:33961781	PMID:35016035	PMID:35140242	PMID:35182466	PMID:36517590	PMID:38189150

Genomics

Comparative Map Data

ZFPM2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	105,318,438 - 105,804,539 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	104,590,733 - 105,804,539 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	106,330,666 - 106,816,767 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	106,400,323 - 106,885,943 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	106,400,322 - 106,885,941	NCBI
Celera	8	102,518,281 - 103,003,726 (+)	NCBI		Celera
Cytogenetic Map	8	q23.1	NCBI
HuRef	8	101,532,803 - 102,138,045 (+)	NCBI		HuRef
CHM1_1	8	106,371,762 - 106,857,264 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	106,445,857 - 106,932,108 (+)	NCBI		T2T-CHM13v2.0

Zfpm2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	40,518,438 - 40,967,988 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	40,518,431 - 40,967,988 (+)	Ensembl		GRCm39 Ensembl
GRCm38	15	40,655,042 - 41,104,592 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	40,655,035 - 41,104,592 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	40,486,588 - 40,936,138 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	40,485,116 - 40,934,666 (+)	NCBI		MGSCv36	mm8
Celera	15	41,140,194 - 41,582,164 (+)	NCBI		Celera
Cytogenetic Map	15	B3.1	NCBI
cM Map	15	15.74	NCBI

Zfpm2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	73,563,732 - 74,001,041 (+)	NCBI		GRCr8
mRatBN7.2	7	71,678,658 - 72,116,209 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	71,678,880 - 72,116,205 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	73,563,335 - 73,995,149 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	75,765,841 - 76,197,677 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	75,633,940 - 76,065,769 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	79,471,277 - 79,964,405 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	79,638,046 - 79,964,405 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	79,491,886 - 79,976,680 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	76,210,472 - 76,654,443 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	76,324,843 - 76,675,169 (+)	NCBI
Celera	7	68,728,223 - 69,158,299 (+)	NCBI		Celera
Cytogenetic Map	7	q31	NCBI

Zfpm2
(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_004955417	28,920,210 - 29,269,271 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955417	28,931,428 - 29,268,778 (+)	NCBI	ChiLan1.0	ChiLan1.0

ZFPM2
(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	7	122,596,111 - 123,154,098 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	8	98,118,921 - 98,676,812 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	101,872,850 - 102,430,622 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	8	104,193,343 - 104,577,698 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	104,023,062 - 104,576,688 (+)	Ensembl	panpan1.1		panPan2

ZFPM2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	13	6,435,368 - 6,796,903 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	13	6,336,794 - 6,796,322 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	13	6,442,921 - 6,803,153 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	13	6,588,050 - 7,045,717 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	13	6,587,518 - 7,044,757 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	13	6,451,443 - 6,811,875 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	13	6,571,226 - 6,931,950 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	13	6,646,836 - 7,007,257 (+)	NCBI		UU_Cfam_GSD_1.0

Zfpm2
(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_024405303	31,006,795 - 31,431,557 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936470	38,432,897 - 38,857,662 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936470	38,432,894 - 38,857,656 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ZFPM2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	31,606,773 - 32,094,287 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	31,607,968 - 31,996,226 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	34,232,973 - 34,242,599 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3
Sscrofa10.2	4	34,441,657 - 34,641,574 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ZFPM2
(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	8	100,138,867 - 100,620,355 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666039	39,958,226 - 40,438,731 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Zfpm2
(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_004624763	21,388,244 - 21,707,953 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624763	21,388,060 - 21,708,969 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ZFPM2
310 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)	single nucleotide variant	46,XY sex reversal 3 [RCV001007702]\|46,XY sex reversal 9 [RCV000144723]\|Tetralogy of Fallot [RCV000032716]\|ZFPM2-related disorder [RCV003974865]\|not provided [RCV000514546]\|not specified [RCV000455350]	Chr8:105801714 [GRCh38] Chr8:106813942 [GRCh37] Chr8:8q23.1	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_012082.4(ZFPM2):c.1520T>C (p.Ile507Thr)	single nucleotide variant	not provided [RCV000522745]	Chr8:105801602 [GRCh38] Chr8:106813830 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly)	single nucleotide variant	46,XY sex reversal 9 [RCV000467901]\|Tetralogy of Fallot [RCV000006501]\|not specified [RCV003230349]	Chr8:105802051 [GRCh38] Chr8:106814279 [GRCh37] Chr8:8q23.1	pathogenic\|benign\|likely benign
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)	single nucleotide variant	46,XY sex reversal 3 [RCV001007696]\|46,XY sex reversal 9 [RCV000461090]\|Diaphragmatic hernia 3 [RCV000172841]\|Double outlet right ventricle [RCV000032713]\|Tetralogy of Fallot [RCV000006502]\|ZFPM2-related disorder [RCV003924804]\|not provided [RCV001573801]\|not specified [RCV001818141]	Chr8:105419192 [GRCh38] Chr8:106431420 [GRCh37] Chr8:8q23.1	pathogenic\|benign\|likely benign
NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter)	single nucleotide variant	Diaphragmatic hernia 3 [RCV000006503]\|not provided [RCV001781192]	Chr8:105561395 [GRCh38] Chr8:106573623 [GRCh37] Chr8:8q23.1	pathogenic\|likely pathogenic
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)	single nucleotide variant	46,XY sex reversal 3 [RCV001007705]\|46,XY sex reversal 9 [RCV000861889]\|Diaphragmatic hernia 3 [RCV000006504]\|Double outlet right ventricle [RCV000032715]\|ZFPM2-related disorder [RCV003914814]\|not provided [RCV001529320]\|not specified [RCV003330385]	Chr8:105802189 [GRCh38] Chr8:106814417 [GRCh37] Chr8:8q23.1	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_012082.4(ZFPM2):c.2527A>G (p.Thr843Ala)	single nucleotide variant	Diaphragmatic hernia 3 [RCV000006505]	Chr8:105802609 [GRCh38] Chr8:106814837 [GRCh37] Chr8:8q23.1	pathogenic
NM_012082.4(ZFPM2):c.2238A>G (p.Leu746=)	single nucleotide variant	Tetralogy of Fallot [RCV001197231]	Chr8:105802320 [GRCh38] Chr8:106814548 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.681T>G (p.Ile227Met)	single nucleotide variant	Double outlet right ventricle [RCV000032714]	Chr8:105788866 [GRCh38] Chr8:106801094 [GRCh37] Chr8:8q23.1	pathogenic
NM_012082.4(ZFPM2):c.2209A>G (p.Lys737Glu)	single nucleotide variant	Double outlet right ventricle [RCV000032717]	Chr8:105802291 [GRCh38] Chr8:106814519 [GRCh37] Chr8:8q23.1	pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:105053530-107803535)x1	copy number loss	See cases [RCV000051020]	Chr8:105053530..107803535 [GRCh38] Chr8:106065758..108815763 [GRCh37] Chr8:106134934..108884939 [NCBI36] Chr8:8q22.3-23.1	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	copy number gain	See cases [RCV000051206]	Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q23.1(chr8:105449064-105643160)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052790]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052790]\|See cases [RCV000052790]	Chr8:105449064..105643160 [GRCh38] Chr8:106461292..106655388 [GRCh37] Chr8:106530468..106724564 [NCBI36] Chr8:8q23.1	uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]\|See cases [RCV000053677]	Chr8:95606052..145054775 [GRCh38] Chr8:96618280..146280161 [GRCh37] Chr8:96687456..146250965 [NCBI36] Chr8:8q22.1-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|See cases [RCV000053604]	Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000053602]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
NM_012082.3(ZFPM2):c.1113C>T (p.Gly371=)	single nucleotide variant	Malignant melanoma [RCV000068075]	Chr8:105801195 [GRCh38] Chr8:106813423 [GRCh37] Chr8:106882599 [NCBI36] Chr8:8q23.1	not provided
NM_012082.3(ZFPM2):c.2168C>T (p.Ser723Phe)	single nucleotide variant	Malignant melanoma [RCV000068076]	Chr8:105802250 [GRCh38] Chr8:106814478 [GRCh37] Chr8:106883654 [NCBI36] Chr8:8q23.1	not provided
NM_012082.3(ZFPM2):c.3054G>A (p.Gln1018=)	single nucleotide variant	Malignant melanoma [RCV000068077]	Chr8:105803136 [GRCh38] Chr8:106815364 [GRCh37] Chr8:106884540 [NCBI36] Chr8:8q23.1	not provided
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	copy number gain	See cases [RCV002292707]	Chr8:68912432..146295771 [GRCh37] Chr8:8q13.2-24.3	pathogenic
NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg)	single nucleotide variant	46,XY sex reversal 9 [RCV000144724]	Chr8:105801288 [GRCh38] Chr8:106813516 [GRCh37] Chr8:8q23.1	pathogenic
NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln)	single nucleotide variant	46,XY sex reversal 9 [RCV000144725]	Chr8:105798763 [GRCh38] Chr8:106810991 [GRCh37] Chr8:8q23.1	pathogenic\|not provided
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	copy number gain	See cases [RCV000134353]	Chr8:94682154..145068656 [GRCh38] Chr8:95694382..146294042 [GRCh37] Chr8:95763558..146264846 [NCBI36] Chr8:8q22.1-24.3	pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	copy number loss	See cases [RCV000134099]	Chr8:101884819..107356143 [GRCh38] Chr8:102897047..108368371 [GRCh37] Chr8:102966223..108437547 [NCBI36] Chr8:8q22.3-23.1	pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	copy number gain	See cases [RCV000135621]	Chr8:86300584..137022587 [GRCh38] Chr8:87312813..138034830 [GRCh37] Chr8:87381929..138104012 [NCBI36] Chr8:8q21.3-24.23	pathogenic\|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1	copy number loss	See cases [RCV000136812]	Chr8:101199826..105802098 [GRCh38] Chr8:102212054..106814326 [GRCh37] Chr8:102281230..106883502 [NCBI36] Chr8:8q22.3-23.1	pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	copy number loss	See cases [RCV000138134]	Chr8:101171263..109127664 [GRCh38] Chr8:102183491..110139893 [GRCh37] Chr8:102252667..110209069 [NCBI36] Chr8:8q22.3-23.1	pathogenic
GRCh38/hg38 8q23.1(chr8:105380252-106481199)x3	copy number gain	See cases [RCV000137805]	Chr8:105380252..106481199 [GRCh38] Chr8:106392480..107493427 [GRCh37] Chr8:106461656..107562603 [NCBI36] Chr8:8q23.1	pathogenic\|likely benign
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	copy number gain	See cases [RCV000138643]	Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	copy number gain	See cases [RCV000138551]	Chr8:87931152..145068712 [GRCh38] Chr8:88943380..146294098 [GRCh37] Chr8:89012496..146264902 [NCBI36] Chr8:8q21.3-24.3	pathogenic
GRCh38/hg38 8q23.1(chr8:105374298-106481199)x3	copy number gain	See cases [RCV000138266]	Chr8:105374298..106481199 [GRCh38] Chr8:106386526..107493427 [GRCh37] Chr8:106455702..107562603 [NCBI36] Chr8:8q23.1	uncertain significance
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	copy number gain	See cases [RCV000139036]	Chr8:77480050..145068712 [GRCh38] Chr8:78392286..146294098 [GRCh37] Chr8:78554841..146264902 [NCBI36] Chr8:8q21.13-24.3	pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	copy number gain	See cases [RCV000140447]	Chr8:97382873..145070385 [GRCh38] Chr8:98395101..146295771 [GRCh37] Chr8:98464277..146266575 [NCBI36] Chr8:8q22.1-24.3	pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	copy number gain	See cases [RCV000139539]	Chr8:46031340..139285494 [GRCh38] Chr8:46942962..140297737 [GRCh37] Chr8:47062127..140366919 [NCBI36] Chr8:8q11.1-24.3	pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	copy number gain	See cases [RCV000141694]	Chr8:100867343..145070385 [GRCh38] Chr8:101879571..146295771 [GRCh37] Chr8:101948747..146266575 [NCBI36] Chr8:8q22.3-24.3	pathogenic
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	copy number loss	See cases [RCV000141697]	Chr8:100179408..106524667 [GRCh38] Chr8:101191636..107536895 [GRCh37] Chr8:101260812..107606071 [NCBI36] Chr8:8q22.2-23.1	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	copy number gain	See cases [RCV000141808]	Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	copy number gain	See cases [RCV000142021]	Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3	pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:105081855-105886355)x3	copy number gain	See cases [RCV000142128]	Chr8:105081855..105886355 [GRCh38] Chr8:106094083..106898583 [GRCh37] Chr8:106163259..106967759 [NCBI36] Chr8:8q22.3-23.1	uncertain significance
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	copy number gain	See cases [RCV000142810]	Chr8:103306336..145068712 [GRCh38] Chr8:104318564..146294098 [GRCh37] Chr8:104387740..146264902 [NCBI36] Chr8:8q22.3-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	copy number gain	See cases [RCV000142858]	Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	copy number gain	See cases [RCV000142597]	Chr8:78614077..145054634 [GRCh38] Chr8:79526312..146280020 [GRCh37] Chr8:79688867..146250824 [NCBI36] Chr8:8q21.13-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000148092]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	copy number gain	See cases [RCV000143659]	Chr8:85765999..145070385 [GRCh38] Chr8:86778228..146295771 [GRCh37] Chr8:86863079..146266575 [NCBI36] Chr8:8q21.2-24.3	pathogenic
NC_000008.11:g.105297869T>C	single nucleotide variant	Lung cancer [RCV000106768]	Chr8:105297869 [GRCh38] Chr8:106310097 [GRCh37] Chr8:8q23.1	uncertain significance
NC_000008.11:g.105313726T>A	single nucleotide variant	Lung cancer [RCV000106769]	Chr8:105313726 [GRCh38] Chr8:106325954 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.444G>C (p.Met148Ile)	single nucleotide variant	46,XY sex reversal 9 [RCV000546799]	Chr8:105634269 [GRCh38] Chr8:106646497 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn)	single nucleotide variant	46,XY sex reversal 3 [RCV001007699]\|46,XY sex reversal 9 [RCV000231192]\|ZFPM2-related disorder [RCV003919971]\|not provided [RCV003430790]	Chr8:105444372 [GRCh38] Chr8:106456600 [GRCh37] Chr8:8q23.1	benign\|likely benign
NM_012082.4(ZFPM2):c.2096A>C (p.His699Pro)	single nucleotide variant	46,XY sex reversal 9 [RCV000233426]	Chr8:105802178 [GRCh38] Chr8:106814406 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2665C>G (p.Gln889Glu)	single nucleotide variant	46,XY sex reversal 9 [RCV000227236]\|not specified [RCV001820747]	Chr8:105802747 [GRCh38] Chr8:106814975 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.3078G>A (p.Ala1026=)	single nucleotide variant	46,XY sex reversal 9 [RCV000546178]	Chr8:105803160 [GRCh38] Chr8:106815388 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.1632G>T (p.Met544Ile)	single nucleotide variant	not provided [RCV000520007]	Chr8:105801714 [GRCh38] Chr8:106813942 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1776T>C (p.Pro592=)	single nucleotide variant	46,XY sex reversal 9 [RCV000475888]\|not provided [RCV001651198]\|not specified [RCV000243857]	Chr8:105801858 [GRCh38] Chr8:106814086 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.2385C>G (p.Val795=)	single nucleotide variant	46,XY sex reversal 9 [RCV000470649]\|not provided [RCV001709546]\|not specified [RCV000244154]	Chr8:105802467 [GRCh38] Chr8:106814695 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.2976T>C (p.Tyr992=)	single nucleotide variant	46,XY sex reversal 9 [RCV000462912]\|not provided [RCV001610682]\|not specified [RCV000249120]	Chr8:105803058 [GRCh38] Chr8:106815286 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.302-13C>T	single nucleotide variant	46,XY sex reversal 9 [RCV002058228]\|Tetralogy of Fallot [RCV002244630]\|not provided [RCV001668526]\|not specified [RCV000254101]	Chr8:105561350 [GRCh38] Chr8:106573578 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.3207C>T (p.His1069=)	single nucleotide variant	46,XY sex reversal 9 [RCV001515439]\|not specified [RCV000244414]	Chr8:105803289 [GRCh38] Chr8:106815517 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly)	single nucleotide variant	46,XY sex reversal 9 [RCV001510929]\|not provided [RCV001683062]\|not specified [RCV000246895]	Chr8:105801290 [GRCh38] Chr8:106813518 [GRCh37] Chr8:8q23.1	benign\|likely benign
NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr)	single nucleotide variant	46,XY sex reversal 3 [RCV001007700]\|46,XY sex reversal 9 [RCV000559499]\|not provided [RCV003311733]\|not specified [RCV000249373]	Chr8:105788814 [GRCh38] Chr8:106801042 [GRCh37] Chr8:8q23.1	benign\|likely benign
NM_012082.4(ZFPM2):c.1362A>G (p.Pro454=)	single nucleotide variant	46,XY sex reversal 9 [RCV001515438]\|not provided [RCV001683063]\|not specified [RCV000251859]	Chr8:105801444 [GRCh38] Chr8:106813672 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.1851G>A (p.Glu617=)	single nucleotide variant	46,XY sex reversal 9 [RCV003748213]\|not provided [RCV003422172]\|not specified [RCV000247198]	Chr8:105801933 [GRCh38] Chr8:106814161 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp)	single nucleotide variant	46,XY sex reversal 9 [RCV001515297]\|not provided [RCV001668525]\|not specified [RCV000252167]	Chr8:105802428 [GRCh38] Chr8:106814656 [GRCh37] Chr8:8q23.1	benign\|likely benign
NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu)	single nucleotide variant	46,XY sex reversal 9 [RCV000529779]\|not provided [RCV003139869]	Chr8:105561425 [GRCh38] Chr8:106573653 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1400dup (p.Tyr467Ter)	duplication	not provided [RCV000598673]	Chr8:105801481..105801482 [GRCh38] Chr8:106813709..106813710 [GRCh37] Chr8:8q23.1	likely pathogenic
NM_012082.4(ZFPM2):c.2146C>T (p.Pro716Ser)	single nucleotide variant	46,XY sex reversal 9 [RCV000533424]	Chr8:105802228 [GRCh38] Chr8:106814456 [GRCh37] Chr8:8q23.1	uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	copy number gain	not provided [RCV000848192]	Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	copy number gain	See cases [RCV000447507]	Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	copy number gain	See cases [RCV000448954]	Chr8:98432250..146222672 [GRCh37] Chr8:8q22.1-24.3	pathogenic
NM_012082.4(ZFPM2):c.822T>C (p.Ser274=)	single nucleotide variant	46,XY sex reversal 9 [RCV000471512]	Chr8:105798806 [GRCh38] Chr8:106811034 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.3164C>T (p.Ala1055Val)	single nucleotide variant	46,XY sex reversal 9 [RCV000464502]\|not specified [RCV003230509]	Chr8:105803246 [GRCh38] Chr8:106815474 [GRCh37] Chr8:8q23.1	benign\|likely benign
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile)	single nucleotide variant	46,XY sex reversal 9 [RCV000476456]\|not provided [RCV001573677]\|not specified [RCV001702786]	Chr8:105802369 [GRCh38] Chr8:106814597 [GRCh37] Chr8:8q23.1	benign\|likely benign
NM_012082.4(ZFPM2):c.1164C>T (p.Ser388=)	single nucleotide variant	46,XY sex reversal 9 [RCV002063675]	Chr8:105801246 [GRCh38] Chr8:106813474 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.965-9TC[2]	microsatellite	46,XY sex reversal 9 [RCV000462010]\|not specified [RCV001821322]	Chr8:105801038..105801039 [GRCh38] Chr8:106813266..106813267 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.3294G>C (p.Glu1098Asp)	single nucleotide variant	46,XY sex reversal 9 [RCV000469606]	Chr8:105803376 [GRCh38] Chr8:106815604 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3369A>G (p.Leu1123=)	single nucleotide variant	46,XY sex reversal 9 [RCV000469703]\|not specified [RCV003230508]	Chr8:105803451 [GRCh38] Chr8:106815679 [GRCh37] Chr8:8q23.1	benign
GRCh37/hg19 8q22.3-23.1(chr8:106058743-106717749)x3	copy number gain	See cases [RCV000510140]	Chr8:106058743..106717749 [GRCh37] Chr8:8q22.3-23.1	uncertain significance
GRCh37/hg19 8q22.3-23.1(chr8:105388734-106601051)x3	copy number gain	See cases [RCV000510148]	Chr8:105388734..106601051 [GRCh37] Chr8:8q22.3-23.1	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	copy number gain	See cases [RCV000510234]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	copy number gain	See cases [RCV000511761]	Chr8:93047482..141355635 [GRCh37] Chr8:8q21.3-24.3	pathogenic
GRCh37/hg19 8q23.1(chr8:106377557-107502955)x3	copy number gain	See cases [RCV000511608]	Chr8:106377557..107502955 [GRCh37] Chr8:8q23.1	uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	copy number gain	See cases [RCV000511002]	Chr8:86841154..146295771 [GRCh37] Chr8:8q21.2-24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	copy number gain	See cases [RCV000511095]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	copy number gain	See cases [RCV000510854]	Chr8:86841228..142689874 [GRCh37] Chr8:8q21.2-24.3	pathogenic
NM_012082.4(ZFPM2):c.2084C>T (p.Thr695Ile)	single nucleotide variant	Inborn genetic diseases [RCV003279431]	Chr8:105802166 [GRCh38] Chr8:106814394 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2049C>G (p.Asp683Glu)	single nucleotide variant	Inborn genetic diseases [RCV003291488]	Chr8:105802131 [GRCh38] Chr8:106814359 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1366A>T (p.Ile456Leu)	single nucleotide variant	not provided [RCV000596322]	Chr8:105801448 [GRCh38] Chr8:106813676 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1579C>T (p.Arg527Ter)	single nucleotide variant	not provided [RCV003314790]	Chr8:105801661 [GRCh38] Chr8:106813889 [GRCh37] Chr8:8q23.1	likely pathogenic
NM_012082.4(ZFPM2):c.3334A>G (p.Ser1112Gly)	single nucleotide variant	46,XY sex reversal 9 [RCV000558571]	Chr8:105803416 [GRCh38] Chr8:106815644 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1871C>G (p.Ser624Cys)	single nucleotide variant	46,XY sex reversal 9 [RCV000655307]\|not provided [RCV001354602]	Chr8:105801953 [GRCh38] Chr8:106814181 [GRCh37] Chr8:8q23.1	likely benign\|uncertain significance
NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile)	single nucleotide variant	46,XY sex reversal 9 [RCV000655308]	Chr8:105803168 [GRCh38] Chr8:106815396 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.240G>T (p.Gly80=)	single nucleotide variant	46,XY sex reversal 9 [RCV000655309]	Chr8:105444320 [GRCh38] Chr8:106456548 [GRCh37] Chr8:8q23.1	likely benign\|uncertain significance
NM_012082.4(ZFPM2):c.41-4C>A	single nucleotide variant	46,XY sex reversal 9 [RCV000655310]	Chr8:105419140 [GRCh38] Chr8:106431368 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.1227G>T (p.Gln409His)	single nucleotide variant	46,XY sex reversal 9 [RCV000655311]\|Inborn genetic diseases [RCV004686600]	Chr8:105801309 [GRCh38] Chr8:106813537 [GRCh37] Chr8:8q23.1	likely benign\|uncertain significance
NM_012082.4(ZFPM2):c.1578G>T (p.Arg526=)	single nucleotide variant	46,XY sex reversal 9 [RCV000655312]\|not provided [RCV003432714]	Chr8:105801660 [GRCh38] Chr8:106813888 [GRCh37] Chr8:8q23.1	benign\|likely benign
NM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr)	single nucleotide variant	46,XY sex reversal 9 [RCV000655313]\|not provided [RCV003432715]\|not specified [RCV001816653]	Chr8:105801358 [GRCh38] Chr8:106813586 [GRCh37] Chr8:8q23.1	benign\|likely benign
NM_012082.4(ZFPM2):c.533-4A>T	single nucleotide variant	46,XY sex reversal 9 [RCV000655314]	Chr8:105788714 [GRCh38] Chr8:106800942 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg)	single nucleotide variant	46,XY sex reversal 9 [RCV000655315]\|ZFPM2-related disorder [RCV003907920]\|not specified [RCV001816654]	Chr8:105802583 [GRCh38] Chr8:106814811 [GRCh37] Chr8:8q23.1	benign\|likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	copy number gain	See cases [RCV000512169]	Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3	pathogenic
NM_012082.4(ZFPM2):c.1710T>C (p.Tyr570=)	single nucleotide variant	46,XY sex reversal 9 [RCV002104264]	Chr8:105801792 [GRCh38] Chr8:106814020 [GRCh37] Chr8:8q23.1	likely benign
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	copy number gain	not provided [RCV000683045]	Chr8:86841154..116518125 [GRCh37] Chr8:8q21.2-23.3	pathogenic
NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu)	single nucleotide variant	46,XY sex reversal 9 [RCV000705620]\|Tetralogy of Fallot [RCV000678773]	Chr8:105801400 [GRCh38] Chr8:106813628 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2651G>A (p.Arg884His)	single nucleotide variant	46,XY sex reversal 9 [RCV000701785]	Chr8:105802733 [GRCh38] Chr8:106814961 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2384T>C (p.Val795Ala)	single nucleotide variant	46,XY sex reversal 9 [RCV000701895]	Chr8:105802466 [GRCh38] Chr8:106814694 [GRCh37] Chr8:8q23.1	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3	copy number gain	not provided [RCV000747248]	Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3	copy number gain	not provided [RCV000747254]	Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q23.1(chr8:106385049-107502130)x3	copy number gain	not provided [RCV000747752]	Chr8:106385049..107502130 [GRCh37] Chr8:8q23.1	benign
GRCh37/hg19 8q23.1(chr8:106787935-106797275)x0	copy number loss	not provided [RCV000747753]	Chr8:106787935..106797275 [GRCh37] Chr8:8q23.1	benign
GRCh37/hg19 8q23.1(chr8:106796540-106797275)x1	copy number loss	not provided [RCV000747754]	Chr8:106796540..106797275 [GRCh37] Chr8:8q23.1	benign
GRCh37/hg19 8q23.1(chr8:106796540-106798675)x0	copy number loss	not provided [RCV000747755]	Chr8:106796540..106798675 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.1641G>A (p.Gly547=)	single nucleotide variant	46,XY sex reversal 9 [RCV001462541]	Chr8:105801723 [GRCh38] Chr8:106813951 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.964+79G>A	single nucleotide variant	not provided [RCV001667170]	Chr8:105799027 [GRCh38] Chr8:106811255 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.27C>G (p.Pro9=)	single nucleotide variant	not provided [RCV000862467]	Chr8:105318968 [GRCh38] Chr8:106331196 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.285C>T (p.Asp95=)	single nucleotide variant	46,XY sex reversal 9 [RCV000862684]	Chr8:105444365 [GRCh38] Chr8:106456593 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1975A>C (p.Asn659His)	single nucleotide variant	Inborn genetic diseases [RCV003244987]	Chr8:105802057 [GRCh38] Chr8:106814285 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1005A>G (p.Leu335=)	single nucleotide variant	46,XY sex reversal 9 [RCV002539312]	Chr8:105801087 [GRCh38] Chr8:106813315 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.301+9G>T	single nucleotide variant	not provided [RCV000925670]	Chr8:105444390 [GRCh38] Chr8:106456618 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.57C>T (p.Ala19=)	single nucleotide variant	46,XY sex reversal 9 [RCV002064536]	Chr8:105419160 [GRCh38] Chr8:106431388 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2616C>T (p.His872=)	single nucleotide variant	not provided [RCV000869376]	Chr8:105802698 [GRCh38] Chr8:106814926 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.740-4G>T	single nucleotide variant	not provided [RCV000868816]	Chr8:105798720 [GRCh38] Chr8:106810948 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2718T>C (p.Asp906=)	single nucleotide variant	46,XY sex reversal 9 [RCV001402453]	Chr8:105802800 [GRCh38] Chr8:106815028 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2728G>A (p.Glu910Lys)	single nucleotide variant	Inborn genetic diseases [RCV004027727]\|not provided [RCV000868463]	Chr8:105802810 [GRCh38] Chr8:106815038 [GRCh37] Chr8:8q23.1	likely benign\|uncertain significance
NM_012082.4(ZFPM2):c.349C>T (p.Arg117Ter)	single nucleotide variant	Diaphragmatic hernia 3 [RCV002285126]	Chr8:105561410 [GRCh38] Chr8:106573638 [GRCh37] Chr8:8q23.1	pathogenic
NM_012082.4(ZFPM2):c.2490A>T (p.Ile830=)	single nucleotide variant	46,XY sex reversal 9 [RCV001509753]\|ZFPM2-related disorder [RCV003955613]\|not specified [RCV001816959]	Chr8:105802572 [GRCh38] Chr8:106814800 [GRCh37] Chr8:8q23.1	benign\|likely benign
NM_012082.4(ZFPM2):c.2262A>G (p.Pro754=)	single nucleotide variant	46,XY sex reversal 9 [RCV002062263]	Chr8:105802344 [GRCh38] Chr8:106814572 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro)	single nucleotide variant	46,XY sex reversal 9 [RCV000817308]	Chr8:105801292 [GRCh38] Chr8:106813520 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2206C>T (p.Arg736Cys)	single nucleotide variant	46,XY sex reversal 9 [RCV000803722]	Chr8:105802288 [GRCh38] Chr8:106814516 [GRCh37] Chr8:8q23.1	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not provided [RCV000848478]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_012082.4(ZFPM2):c.1436T>C (p.Leu479Pro)	single nucleotide variant	46,XY sex reversal 9 [RCV000817654]	Chr8:105801518 [GRCh38] Chr8:106813746 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn)	single nucleotide variant	46,XY sex reversal 9 [RCV000791543]\|Inborn genetic diseases [RCV002536931]	Chr8:105803051 [GRCh38] Chr8:106815279 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys)	single nucleotide variant	46,XY sex reversal 9 [RCV003748282]\|Diaphragmatic hernia 3 [RCV000782368]	Chr8:105419233 [GRCh38] Chr8:106431461 [GRCh37] Chr8:8q23.1	likely benign\|uncertain significance
NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln)	single nucleotide variant	Diaphragmatic hernia 3 [RCV000782369]	Chr8:105801250 [GRCh38] Chr8:106813478 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1274A>T (p.Lys425Met)	single nucleotide variant	46,XY sex reversal 9 [RCV000798330]	Chr8:105801356 [GRCh38] Chr8:106813584 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1569G>C (p.Leu523=)	single nucleotide variant	46,XY sex reversal 9 [RCV000862357]	Chr8:105801651 [GRCh38] Chr8:106813879 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.2300A>G (p.Asn767Ser)	single nucleotide variant	46,XY sex reversal 9 [RCV000802116]	Chr8:105802382 [GRCh38] Chr8:106814610 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1015G>A (p.Val339Ile)	single nucleotide variant	46,XY sex reversal 9 [RCV002538904]\|not specified [RCV001816934]	Chr8:105801097 [GRCh38] Chr8:106813325 [GRCh37] Chr8:8q23.1	benign\|likely benign
NM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile)	single nucleotide variant	46,XY sex reversal 9 [RCV000798220]\|Inborn genetic diseases [RCV002537082]\|not provided [RCV003141786]	Chr8:105801971 [GRCh38] Chr8:106814199 [GRCh37] Chr8:8q23.1	uncertain significance
GRCh37/hg19 8q23.1(chr8:106353836-107257928)x3	copy number gain	not provided [RCV000849345]	Chr8:106353836..107257928 [GRCh37] Chr8:8q23.1	uncertain significance
GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1	copy number loss	not provided [RCV000847013]	Chr8:104437051..114170843 [GRCh37] Chr8:8q22.3-23.3	uncertain significance
NM_012082.4(ZFPM2):c.2650C>T (p.Arg884Cys)	single nucleotide variant	46,XY sex reversal 9 [RCV001225784]	Chr8:105802732 [GRCh38] Chr8:106814960 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu)	single nucleotide variant	46,XY sex reversal 9 [RCV001212216]\|Inborn genetic diseases [RCV002562381]	Chr8:105634288 [GRCh38] Chr8:106646516 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2171A>G (p.Asn724Ser)	single nucleotide variant	Inborn genetic diseases [RCV003272433]	Chr8:105802253 [GRCh38] Chr8:106814481 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3269dup (p.Ser1091fs)	duplication	Tetralogy of Fallot [RCV001197971]	Chr8:105803350..105803351 [GRCh38] Chr8:106815578..106815579 [GRCh37] Chr8:8q23.1	uncertain significance
NC_000008.10:g.(?_104412639)_(106815766_?)dup	duplication	not provided [RCV003107390]	Chr8:104412639..106815766 [GRCh37] Chr8:8q22.3-23.1	uncertain significance
NM_012082.4(ZFPM2):c.532+98A>T	single nucleotide variant	not provided [RCV001618949]	Chr8:105634455 [GRCh38] Chr8:106646683 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val)	single nucleotide variant	46,XY sex reversal 9 [RCV000862743]\|not provided [RCV001766772]	Chr8:105788864 [GRCh38] Chr8:106801092 [GRCh37] Chr8:8q23.1	likely benign\|uncertain significance
NM_012082.4(ZFPM2):c.1014C>T (p.Thr338=)	single nucleotide variant	46,XY sex reversal 9 [RCV002064655]	Chr8:105801096 [GRCh38] Chr8:106813324 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.846G>A (p.Pro282=)	single nucleotide variant	46,XY sex reversal 9 [RCV000864237]	Chr8:105798830 [GRCh38] Chr8:106811058 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2097C>T (p.His699=)	single nucleotide variant	46,XY sex reversal 9 [RCV000861906]	Chr8:105802179 [GRCh38] Chr8:106814407 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.2119C>G (p.Gln707Glu)	single nucleotide variant	46,XY sex reversal 9 [RCV001238753]	Chr8:105802201 [GRCh38] Chr8:106814429 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser)	single nucleotide variant	46,XY sex reversal 9 [RCV001243951]\|Inborn genetic diseases [RCV002568572]	Chr8:105803065 [GRCh38] Chr8:106815293 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.301+74A>G	single nucleotide variant	not provided [RCV001656377]	Chr8:105444455 [GRCh38] Chr8:106456683 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.2537C>T (p.Ser846Phe)	single nucleotide variant	not provided [RCV001561110]	Chr8:105802619 [GRCh38] Chr8:106814847 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2382_2383insA (p.Val795fs)	insertion	not provided [RCV001008616]	Chr8:105802464..105802465 [GRCh38] Chr8:106814692..106814693 [GRCh37] Chr8:8q23.1	likely pathogenic
NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile)	single nucleotide variant	46,XY sex reversal 3 [RCV001007697]\|46,XY sex reversal 9 [RCV001492996]\|not provided [RCV001531088]	Chr8:105801694 [GRCh38] Chr8:106813922 [GRCh37] Chr8:8q23.1	benign\|likely benign
NM_012082.4(ZFPM2):c.1770G>C (p.Lys590Asn)	single nucleotide variant	46,XY sex reversal 3 [RCV001007703]	Chr8:105801852 [GRCh38] Chr8:106814080 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del)	deletion	46,XY sex reversal 3 [RCV001007704]\|46,XY sex reversal 9 [RCV003586260]	Chr8:105801898..105801900 [GRCh38] Chr8:106814126..106814128 [GRCh37] Chr8:8q23.1	benign\|uncertain significance
NM_012082.4(ZFPM2):c.1255G>A (p.Glu419Lys)	single nucleotide variant	46,XY sex reversal 3 [RCV001007698]	Chr8:105801337 [GRCh38] Chr8:106813565 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val)	single nucleotide variant	46,XY sex reversal 3 [RCV001007701]\|46,XY sex reversal 9 [RCV002067598]	Chr8:105801085 [GRCh38] Chr8:106813313 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.1303G>C (p.Asp435His)	single nucleotide variant	not provided [RCV001091701]	Chr8:105801385 [GRCh38] Chr8:106813613 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2930G>A (p.Gly977Glu)	single nucleotide variant	46,XY sex reversal 9 [RCV001071239]	Chr8:105803012 [GRCh38] Chr8:106815240 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.420+210C>T	single nucleotide variant	not provided [RCV001611474]	Chr8:105561691 [GRCh38] Chr8:105561691..105561692 [GRCh38] Chr8:106573919 [GRCh37] Chr8:106573919..106573920 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.964+306A>G	single nucleotide variant	not provided [RCV001663117]	Chr8:105799254 [GRCh38] Chr8:106811482 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn)	single nucleotide variant	46,XY sex reversal 9 [RCV001215425]\|Inborn genetic diseases [RCV003163652]	Chr8:105803017 [GRCh38] Chr8:106815245 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.993del (p.Gly332fs)	deletion	not provided [RCV001008444]	Chr8:105801075 [GRCh38] Chr8:106813303 [GRCh37] Chr8:8q23.1	likely pathogenic
NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro)	single nucleotide variant	46,XY sex reversal 9 [RCV001063029]\|Inborn genetic diseases [RCV003160513]	Chr8:105788802 [GRCh38] Chr8:106801030 [GRCh37] Chr8:8q23.1	uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	copy number gain	See cases [RCV002285066]	Chr8:84712253..146295771 [GRCh37] Chr8:8q21.2-24.3	pathogenic
NM_012082.4(ZFPM2):c.740-344_740-341dup	duplication	not provided [RCV001540493]	Chr8:105798377..105798378 [GRCh38] Chr8:106810605..106810606 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.3335G>A (p.Ser1112Asn)	single nucleotide variant	Diaphragmatic hernia 3 [RCV001262754]	Chr8:105803417 [GRCh38] Chr8:106815645 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.664C>T (p.Arg222Cys)	single nucleotide variant	46,XY sex reversal 9 [RCV001306233]	Chr8:105788849 [GRCh38] Chr8:106801077 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1721G>A (p.Arg574Gln)	single nucleotide variant	46,XY sex reversal 9 [RCV001351220]	Chr8:105801803 [GRCh38] Chr8:106814031 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2903A>G (p.Tyr968Cys)	single nucleotide variant	46,XY sex reversal 9 [RCV001317970]	Chr8:105802985 [GRCh38] Chr8:106815213 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2633C>T (p.Pro878Leu)	single nucleotide variant	46,XY sex reversal 9 [RCV001325942]	Chr8:105802715 [GRCh38] Chr8:106814943 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1866A>G (p.Gln622=)	single nucleotide variant	46,XY sex reversal 9 [RCV001343743]	Chr8:105801948 [GRCh38] Chr8:106814176 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1396_1399dup (p.Tyr467fs)	duplication	Diaphragmatic hernia 3 [RCV001269308]	Chr8:105801475..105801476 [GRCh38] Chr8:106813703..106813704 [GRCh37] Chr8:8q23.1	pathogenic
NM_012082.4(ZFPM2):c.2593A>G (p.Lys865Glu)	single nucleotide variant	46,XY sex reversal 9 [RCV001325678]	Chr8:105802675 [GRCh38] Chr8:106814903 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2201G>A (p.Arg734His)	single nucleotide variant	Tetralogy of Fallot [RCV001331730]	Chr8:105802283 [GRCh38] Chr8:106814511 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2295C>A (p.Asn765Lys)	single nucleotide variant	46,XY sex reversal 9 [RCV001371173]	Chr8:105802377 [GRCh38] Chr8:106814605 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3060C>T (p.Ser1020=)	single nucleotide variant	46,XY sex reversal 9 [RCV001415403]	Chr8:105803142 [GRCh38] Chr8:106815370 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.3161C>T (p.Pro1054Leu)	single nucleotide variant	46,XY sex reversal 9 [RCV001344672]	Chr8:105803243 [GRCh38] Chr8:106815471 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs)	duplication	Diaphragmatic hernia 3 [RCV001269307]	Chr8:105798739..105798740 [GRCh38] Chr8:106810967..106810968 [GRCh37] Chr8:8q23.1	pathogenic
NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala)	single nucleotide variant	46,XY sex reversal 9 [RCV001370583]\|Inborn genetic diseases [RCV002548644]\|not provided [RCV001573859]	Chr8:105419224 [GRCh38] Chr8:106431452 [GRCh37] Chr8:8q23.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_012082.4(ZFPM2):c.2230A>T (p.Met744Leu)	single nucleotide variant	46,XY sex reversal 9 [RCV001364333]	Chr8:105802312 [GRCh38] Chr8:106814540 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.74A>G (p.Glu25Gly)	single nucleotide variant	46,XY sex reversal 9 [RCV001367676]	Chr8:105419177 [GRCh38] Chr8:106431405 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1046A>C (p.Asn349Thr)	single nucleotide variant	Tetralogy of Fallot [RCV001331729]	Chr8:105801128 [GRCh38] Chr8:106813356 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.357A>G (p.Gln119=)	single nucleotide variant	46,XY sex reversal 9 [RCV001421142]	Chr8:105561418 [GRCh38] Chr8:106573646 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1160C>G (p.Pro387Arg)	single nucleotide variant	46,XY sex reversal 9 [RCV001490441]\|Inborn genetic diseases [RCV004037306]\|not specified [RCV001820190]	Chr8:105801242 [GRCh38] Chr8:106813470 [GRCh37] Chr8:8q23.1	likely benign\|uncertain significance
NM_012082.4(ZFPM2):c.72A>G (p.Glu24=)	single nucleotide variant	46,XY sex reversal 9 [RCV001426445]	Chr8:105419175 [GRCh38] Chr8:106431403 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1218C>T (p.Asp406=)	single nucleotide variant	46,XY sex reversal 9 [RCV001407477]	Chr8:105801300 [GRCh38] Chr8:106813528 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1161T>C (p.Pro387=)	single nucleotide variant	46,XY sex reversal 9 [RCV001402555]	Chr8:105801243 [GRCh38] Chr8:106813471 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.3077C>T (p.Ala1026Val)	single nucleotide variant	46,XY sex reversal 9 [RCV001404984]\|Inborn genetic diseases [RCV002553414]	Chr8:105803159 [GRCh38] Chr8:106815387 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2532C>T (p.Thr844=)	single nucleotide variant	46,XY sex reversal 9 [RCV001444389]	Chr8:105802614 [GRCh38] Chr8:106814842 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.3438A>G (p.Ala1146=)	single nucleotide variant	46,XY sex reversal 9 [RCV001407691]	Chr8:105803520 [GRCh38] Chr8:106815748 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.302-5T>C	single nucleotide variant	46,XY sex reversal 9 [RCV001407713]	Chr8:105561358 [GRCh38] Chr8:106573586 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2712C>T (p.Ser904=)	single nucleotide variant	46,XY sex reversal 9 [RCV001429359]	Chr8:105802794 [GRCh38] Chr8:106815022 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.-73_-65dup	duplication	not provided [RCV001618851]	Chr8:105318866..105318867 [GRCh38] Chr8:106331094..106331095 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.258A>G (p.Lys86=)	single nucleotide variant	46,XY sex reversal 9 [RCV001518853]\|ZFPM2-related disorder [RCV003908856]	Chr8:105444338 [GRCh38] Chr8:106456566 [GRCh37] Chr8:8q23.1	benign\|likely benign
NM_012082.4(ZFPM2):c.3049G>A (p.Gly1017Ser)	single nucleotide variant	46,XY sex reversal 9 [RCV001429059]	Chr8:105803131 [GRCh38] Chr8:106815359 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.436G>C (p.Val146Leu)	single nucleotide variant	46,XY sex reversal 9 [RCV001419691]\|Inborn genetic diseases [RCV002554080]	Chr8:105634261 [GRCh38] Chr8:106646489 [GRCh37] Chr8:8q23.1	likely benign\|uncertain significance
NM_012082.4(ZFPM2):c.2700C>T (p.Ser900=)	single nucleotide variant	46,XY sex reversal 9 [RCV001426663]	Chr8:105802782 [GRCh38] Chr8:106815010 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.302-4G>A	single nucleotide variant	46,XY sex reversal 9 [RCV001501322]	Chr8:105561359 [GRCh38] Chr8:106573587 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.3268G>A (p.Val1090Ile)	single nucleotide variant	46,XY sex reversal 9 [RCV001450583]	Chr8:105803350 [GRCh38] Chr8:106815578 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2430A>T (p.Pro810=)	single nucleotide variant	46,XY sex reversal 9 [RCV001516080]\|not specified [RCV001821823]	Chr8:105802512 [GRCh38] Chr8:106814740 [GRCh37] Chr8:8q23.1	benign\|likely benign
NM_012082.4(ZFPM2):c.2357C>T (p.Pro786Leu)	single nucleotide variant	not provided [RCV001755580]	Chr8:105802439 [GRCh38] Chr8:106814667 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.192T>G (p.Cys64Trp)	single nucleotide variant	46,XY sex reversal 9 [RCV001730105]	Chr8:105419295 [GRCh38] Chr8:106431523 [GRCh37] Chr8:8q23.1	likely pathogenic
NM_012082.4(ZFPM2):c.383C>T (p.Pro128Leu)	single nucleotide variant	not provided [RCV001755493]	Chr8:105561444 [GRCh38] Chr8:106573672 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.73G>A (p.Glu25Lys)	single nucleotide variant	not provided [RCV001755402]	Chr8:105419176 [GRCh38] Chr8:106431404 [GRCh37] Chr8:8q23.1	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	copy number gain	Polydactyly [RCV002280629]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_012082.4(ZFPM2):c.3358T>C (p.Tyr1120His)	single nucleotide variant	not provided [RCV001753109]	Chr8:105803440 [GRCh38] Chr8:106815668 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2705G>A (p.Arg902Gln)	single nucleotide variant	not provided [RCV001768343]	Chr8:105802787 [GRCh38] Chr8:106815015 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.625G>A (p.Ala209Thr)	single nucleotide variant	not provided [RCV001768384]	Chr8:105788810 [GRCh38] Chr8:106801038 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2482G>A (p.Val828Met)	single nucleotide variant	not provided [RCV001768091]	Chr8:105802564 [GRCh38] Chr8:106814792 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1450G>A (p.Val484Ile)	single nucleotide variant	not provided [RCV001768263]	Chr8:105801532 [GRCh38] Chr8:106813760 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1672AAT[1] (p.Asn559del)	microsatellite	not provided [RCV001776794]	Chr8:105801754..105801756 [GRCh38] Chr8:106813982..106813984 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2093G>A (p.Arg698Gln)	single nucleotide variant	not provided [RCV001776863]	Chr8:105802175 [GRCh38] Chr8:106814403 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.518T>C (p.Ile173Thr)	single nucleotide variant	not provided [RCV001776825]	Chr8:105634343 [GRCh38] Chr8:106646571 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1975_1977del (p.Asn659del)	deletion	not specified [RCV001817748]	Chr8:105802057..105802059 [GRCh38] Chr8:106814285..106814287 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.421-10C>A	single nucleotide variant	46,XY sex reversal 9 [RCV001864559]	Chr8:105634236 [GRCh38] Chr8:106646464 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1693G>T (p.Val565Leu)	single nucleotide variant	46,XY sex reversal 9 [RCV002002316]	Chr8:105801775 [GRCh38] Chr8:106814003 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.322A>G (p.Lys108Glu)	single nucleotide variant	46,XY sex reversal 9 [RCV001971197]\|Inborn genetic diseases [RCV003289331]	Chr8:105561383 [GRCh38] Chr8:106573611 [GRCh37] Chr8:8q23.1	uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	copy number gain	not specified [RCV002053772]	Chr8:70382990..146295771 [GRCh37] Chr8:8q13.2-24.3	pathogenic
GRCh37/hg19 8q23.1(chr8:106384563-107502955)	copy number gain	not specified [RCV002053792]	Chr8:106384563..107502955 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2762A>G (p.Asn921Ser)	single nucleotide variant	46,XY sex reversal 9 [RCV001948193]	Chr8:105802844 [GRCh38] Chr8:106815072 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1620C>T (p.Tyr540=)	single nucleotide variant	46,XY sex reversal 9 [RCV002040912]	Chr8:105801702 [GRCh38] Chr8:106813930 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1639G>A (p.Gly547Arg)	single nucleotide variant	46,XY sex reversal 9 [RCV001947900]	Chr8:105801721 [GRCh38] Chr8:106813949 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.442A>G (p.Met148Val)	single nucleotide variant	46,XY sex reversal 9 [RCV001890492]\|not provided [RCV002292445]	Chr8:105634267 [GRCh38] Chr8:106646495 [GRCh37] Chr8:8q23.1	likely benign\|uncertain significance
NC_000008.10:g.(?_99135566)_(106815766_?)dup	duplication	Cohen syndrome [RCV001997398]	Chr8:99135566..106815766 [GRCh37] Chr8:8q22.2-23.1	uncertain significance
NM_012082.4(ZFPM2):c.2759G>A (p.Gly920Glu)	single nucleotide variant	46,XY sex reversal 9 [RCV002051007]	Chr8:105802841 [GRCh38] Chr8:106815069 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2545A>G (p.Arg849Gly)	single nucleotide variant	46,XY sex reversal 9 [RCV001922697]	Chr8:105802627 [GRCh38] Chr8:106814855 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.931C>T (p.Arg311Ter)	single nucleotide variant	46,XY sex reversal 9 [RCV001993188]	Chr8:105798915 [GRCh38] Chr8:106811143 [GRCh37] Chr8:8q23.1	pathogenic
NM_012082.4(ZFPM2):c.760T>G (p.Ser254Ala)	single nucleotide variant	46,XY sex reversal 9 [RCV001989321]	Chr8:105798744 [GRCh38] Chr8:106810972 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2534C>T (p.Thr845Met)	single nucleotide variant	46,XY sex reversal 9 [RCV001997761]	Chr8:105802616 [GRCh38] Chr8:106814844 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.593T>C (p.Phe198Ser)	single nucleotide variant	46,XY sex reversal 9 [RCV001938796]	Chr8:105788778 [GRCh38] Chr8:106801006 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2393A>G (p.His798Arg)	single nucleotide variant	46,XY sex reversal 9 [RCV001918632]	Chr8:105802475 [GRCh38] Chr8:106814703 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.421-5T>C	single nucleotide variant	46,XY sex reversal 9 [RCV002128255]	Chr8:105634241 [GRCh38] Chr8:106646469 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.740-19C>T	single nucleotide variant	46,XY sex reversal 9 [RCV002168637]	Chr8:105798705 [GRCh38] Chr8:106810933 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1110C>T (p.Phe370=)	single nucleotide variant	46,XY sex reversal 9 [RCV002111913]	Chr8:105801192 [GRCh38] Chr8:106813420 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2688G>A (p.Pro896=)	single nucleotide variant	46,XY sex reversal 9 [RCV002192041]	Chr8:105802770 [GRCh38] Chr8:106814998 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1071T>C (p.His357=)	single nucleotide variant	46,XY sex reversal 9 [RCV002129101]	Chr8:105801153 [GRCh38] Chr8:106813381 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1494A>G (p.Leu498=)	single nucleotide variant	46,XY sex reversal 9 [RCV002091512]	Chr8:105801576 [GRCh38] Chr8:106813804 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.660T>C (p.Pro220=)	single nucleotide variant	46,XY sex reversal 9 [RCV002094464]	Chr8:105788845 [GRCh38] Chr8:106801073 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr)	single nucleotide variant	46,XY sex reversal 9 [RCV002080760]\|Diaphragmatic hernia 3 [RCV002507931]\|ZFPM2-related disorder [RCV003950984]	Chr8:105803045 [GRCh38] Chr8:106815273 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.739+19G>A	single nucleotide variant	46,XY sex reversal 9 [RCV002210233]	Chr8:105788943 [GRCh38] Chr8:106801171 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.965-11T>C	single nucleotide variant	46,XY sex reversal 9 [RCV002173593]	Chr8:105801036 [GRCh38] Chr8:106813264 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.1894T>C (p.Leu632=)	single nucleotide variant	46,XY sex reversal 9 [RCV002171036]	Chr8:105801976 [GRCh38] Chr8:106814204 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.40+12C>G	single nucleotide variant	46,XY sex reversal 9 [RCV002200043]\|Diaphragmatic hernia 3 [RCV002494097]	Chr8:105318993 [GRCh38] Chr8:106331221 [GRCh37] Chr8:8q23.1	benign\|likely benign
NM_012082.4(ZFPM2):c.582G>A (p.Glu194=)	single nucleotide variant	46,XY sex reversal 9 [RCV002217541]\|ZFPM2-related disorder [RCV003968823]	Chr8:105788767 [GRCh38] Chr8:106800995 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.532+28227T>C	single nucleotide variant	46,XY sex reversal 9 [RCV002217908]	Chr8:105662584 [GRCh38] Chr8:106674812 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.3231G>A (p.Ser1077=)	single nucleotide variant	46,XY sex reversal 9 [RCV002103900]	Chr8:105803313 [GRCh38] Chr8:106815541 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.200-8T>G	single nucleotide variant	46,XY sex reversal 9 [RCV002143450]	Chr8:105444272 [GRCh38] Chr8:106456500 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.261G>T (p.Pro87=)	single nucleotide variant	46,XY sex reversal 9 [RCV002162245]	Chr8:105444341 [GRCh38] Chr8:106456569 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.384G>A (p.Pro128=)	single nucleotide variant	46,XY sex reversal 9 [RCV002183591]	Chr8:105561445 [GRCh38] Chr8:106573673 [GRCh37] Chr8:8q23.1	likely benign
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	copy number gain	not provided [RCV002221452]	Chr8:96496503..146295711 [GRCh37] Chr8:8q22.1-24.3	pathogenic
NC_000008.10:g.(?_106331170)_(106674812_?)dup	duplication	46,XY sex reversal 9 [RCV003109681]	Chr8:106331170..106674812 [GRCh37] Chr8:8q23.1	uncertain significance
NC_000008.10:g.(?_98358247)_(106815766_?)dup	duplication	not provided [RCV003122777]	Chr8:98358247..106815766 [GRCh37] Chr8:8q22.1-23.1	uncertain significance
NM_012082.4(ZFPM2):c.416C>A (p.Ser139Tyr)	single nucleotide variant	not provided [RCV003152186]	Chr8:105561477 [GRCh38] Chr8:106573705 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1663A>C (p.Ile555Leu)	single nucleotide variant	not provided [RCV002276189]	Chr8:105801745 [GRCh38] Chr8:106813973 [GRCh37] Chr8:8q23.1	uncertain significance
GRCh37/hg19 8q22.3-23.1(chr8:106055294-106708321)x3	copy number gain	See cases [RCV002287569]	Chr8:106055294..106708321 [GRCh37] Chr8:8q22.3-23.1	uncertain significance
NM_012082.4(ZFPM2):c.1838C>T (p.Ser613Phe)	single nucleotide variant	not provided [RCV003237219]	Chr8:105801920 [GRCh38] Chr8:106814148 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2499C>A (p.Ser833Arg)	single nucleotide variant	not provided [RCV002285984]	Chr8:105802581 [GRCh38] Chr8:106814809 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1655A>G (p.Glu552Gly)	single nucleotide variant	not provided [RCV003152266]	Chr8:105801737 [GRCh38] Chr8:106813965 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.917G>A (p.Ser306Asn)	single nucleotide variant	Inborn genetic diseases [RCV003304945]	Chr8:105798901 [GRCh38] Chr8:106811129 [GRCh37] Chr8:8q23.1	uncertain significance
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	copy number gain	not provided [RCV002474526]	Chr8:79409349..119040631 [GRCh37] Chr8:8q21.12-24.11	pathogenic
NM_012082.4(ZFPM2):c.1155T>C (p.His385=)	single nucleotide variant	46,XY sex reversal 9 [RCV003074479]	Chr8:105801237 [GRCh38] Chr8:106813465 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.564C>T (p.Ala188=)	single nucleotide variant	46,XY sex reversal 9 [RCV002755680]	Chr8:105788749 [GRCh38] Chr8:106800977 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.945G>T (p.Met315Ile)	single nucleotide variant	46,XY sex reversal 9 [RCV003074923]	Chr8:105798929 [GRCh38] Chr8:106811157 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.562G>C (p.Ala188Pro)	single nucleotide variant	Inborn genetic diseases [RCV002883662]	Chr8:105788747 [GRCh38] Chr8:106800975 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.191G>A (p.Cys64Tyr)	single nucleotide variant	46,XY sex reversal 9 [RCV002972007]	Chr8:105419294 [GRCh38] Chr8:106431522 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.90G>A (p.Glu30=)	single nucleotide variant	46,XY sex reversal 9 [RCV002913176]	Chr8:105419193 [GRCh38] Chr8:106431421 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2783A>G (p.Asn928Ser)	single nucleotide variant	Inborn genetic diseases [RCV002952149]	Chr8:105802865 [GRCh38] Chr8:106815093 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3326A>T (p.Asn1109Ile)	single nucleotide variant	46,XY sex reversal 9 [RCV002923797]\|not provided [RCV003111609]	Chr8:105803408 [GRCh38] Chr8:106815636 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3090T>G (p.Asp1030Glu)	single nucleotide variant	46,XY sex reversal 9 [RCV002659529]	Chr8:105803172 [GRCh38] Chr8:106815400 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.495G>A (p.Val165=)	single nucleotide variant	46,XY sex reversal 9 [RCV002886346]	Chr8:105634320 [GRCh38] Chr8:106646548 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1195C>T (p.His399Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002759432]\|ZFPM2-related disorder [RCV003963791]	Chr8:105801277 [GRCh38] Chr8:106813505 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1931A>C (p.Lys644Thr)	single nucleotide variant	Inborn genetic diseases [RCV002869236]	Chr8:105802013 [GRCh38] Chr8:106814241 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1975A>G (p.Asn659Asp)	single nucleotide variant	Inborn genetic diseases [RCV002888413]	Chr8:105802057 [GRCh38] Chr8:106814285 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3303G>A (p.Leu1101=)	single nucleotide variant	46,XY sex reversal 9 [RCV002780940]	Chr8:105803385 [GRCh38] Chr8:106815613 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1727A>G (p.Gln576Arg)	single nucleotide variant	46,XY sex reversal 9 [RCV003059215]	Chr8:105801809 [GRCh38] Chr8:106814037 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3087A>C (p.Lys1029Asn)	single nucleotide variant	Inborn genetic diseases [RCV002929810]	Chr8:105803169 [GRCh38] Chr8:106815397 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2286C>T (p.Asp762=)	single nucleotide variant	46,XY sex reversal 9 [RCV002931854]	Chr8:105802368 [GRCh38] Chr8:106814596 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2161T>C (p.Ser721Pro)	single nucleotide variant	Inborn genetic diseases [RCV002929998]	Chr8:105802243 [GRCh38] Chr8:106814471 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1349C>T (p.Thr450Met)	single nucleotide variant	46,XY sex reversal 9 [RCV003748454]\|Inborn genetic diseases [RCV002873847]\|not provided [RCV003140177]	Chr8:105801431 [GRCh38] Chr8:106813659 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2355C>T (p.His785=)	single nucleotide variant	46,XY sex reversal 9 [RCV002623804]	Chr8:105802437 [GRCh38] Chr8:106814665 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2674G>A (p.Gly892Ser)	single nucleotide variant	Inborn genetic diseases [RCV002802427]	Chr8:105802756 [GRCh38] Chr8:106814984 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2411C>T (p.Thr804Met)	single nucleotide variant	46,XY sex reversal 9 [RCV002958166]\|Inborn genetic diseases [RCV004067308]	Chr8:105802493 [GRCh38] Chr8:106814721 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3393T>G (p.Leu1131=)	single nucleotide variant	46,XY sex reversal 9 [RCV002917998]	Chr8:105803475 [GRCh38] Chr8:106815703 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.420+16G>A	single nucleotide variant	46,XY sex reversal 9 [RCV002596187]	Chr8:105561497 [GRCh38] Chr8:106573725 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.3124G>T (p.Val1042Leu)	single nucleotide variant	46,XY sex reversal 9 [RCV002667298]	Chr8:105803206 [GRCh38] Chr8:106815434 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1592G>A (p.Gly531Asp)	single nucleotide variant	46,XY sex reversal 9 [RCV003058855]\|Inborn genetic diseases [RCV003058856]	Chr8:105801674 [GRCh38] Chr8:106813902 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3373G>A (p.Asp1125Asn)	single nucleotide variant	Inborn genetic diseases [RCV002936305]	Chr8:105803455 [GRCh38] Chr8:106815683 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2493T>G (p.Asp831Glu)	single nucleotide variant	46,XY sex reversal 9 [RCV003026606]	Chr8:105802575 [GRCh38] Chr8:106814803 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.761C>T (p.Ser254Phe)	single nucleotide variant	46,XY sex reversal 9 [RCV002966732]	Chr8:105798745 [GRCh38] Chr8:106810973 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.845C>T (p.Pro282Leu)	single nucleotide variant	46,XY sex reversal 9 [RCV003064592]\|Inborn genetic diseases [RCV004070159]	Chr8:105798829 [GRCh38] Chr8:106811057 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.261G>A (p.Pro87=)	single nucleotide variant	46,XY sex reversal 9 [RCV003067364]	Chr8:105444341 [GRCh38] Chr8:106456569 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.3014A>G (p.Glu1005Gly)	single nucleotide variant	46,XY sex reversal 9 [RCV002680924]	Chr8:105803096 [GRCh38] Chr8:106815324 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.78A>G (p.Glu26=)	single nucleotide variant	46,XY sex reversal 9 [RCV002676907]	Chr8:105419181 [GRCh38] Chr8:106431409 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.991C>T (p.Pro331Ser)	single nucleotide variant	46,XY sex reversal 9 [RCV002590294]	Chr8:105801073 [GRCh38] Chr8:106813301 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3213C>T (p.Asp1071=)	single nucleotide variant	46,XY sex reversal 9 [RCV002654087]	Chr8:105803295 [GRCh38] Chr8:106815523 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2914A>G (p.Ile972Val)	single nucleotide variant	Inborn genetic diseases [RCV002813876]	Chr8:105802996 [GRCh38] Chr8:106815224 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2207G>A (p.Arg736His)	single nucleotide variant	46,XY sex reversal 9 [RCV002612717]	Chr8:105802289 [GRCh38] Chr8:106814517 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.125T>G (p.Leu42Trp)	single nucleotide variant	not provided [RCV003214156]	Chr8:105419228 [GRCh38] Chr8:106431456 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.423G>T (p.Lys141Asn)	single nucleotide variant	not provided [RCV003229166]	Chr8:105634248 [GRCh38] Chr8:106646476 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1237G>A (p.Asp413Asn)	single nucleotide variant	Inborn genetic diseases [RCV003209497]	Chr8:105801319 [GRCh38] Chr8:106813547 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.848T>C (p.Val283Ala)	single nucleotide variant	not provided [RCV003139400]	Chr8:105798832 [GRCh38] Chr8:106811060 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.665G>A (p.Arg222His)	single nucleotide variant	not provided [RCV003139401]	Chr8:105788850 [GRCh38] Chr8:106801078 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2164G>C (p.Ala722Pro)	single nucleotide variant	Diaphragmatic hernia 3 [RCV003148194]	Chr8:105802246 [GRCh38] Chr8:106814474 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.286G>T (p.Asp96Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003342092]	Chr8:105444366 [GRCh38] Chr8:106456594 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2733A>C (p.Arg911Ser)	single nucleotide variant	Inborn genetic diseases [RCV003373339]	Chr8:105802815 [GRCh38] Chr8:106815043 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1756A>G (p.Ser586Gly)	single nucleotide variant	not provided [RCV003457163]	Chr8:105801838 [GRCh38] Chr8:106814066 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1100A>G (p.His367Arg)	single nucleotide variant	ZFPM2-related disorder [RCV003402490]	Chr8:105801182 [GRCh38] Chr8:106813410 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3208G>A (p.Glu1070Lys)	single nucleotide variant	not provided [RCV003435588]	Chr8:105803290 [GRCh38] Chr8:106815518 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2168C>A (p.Ser723Tyr)	single nucleotide variant	not provided [RCV003443803]	Chr8:105802250 [GRCh38] Chr8:106814478 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1226A>G (p.Gln409Arg)	single nucleotide variant	ZFPM2-related disorder [RCV003412151]	Chr8:105801308 [GRCh38] Chr8:106813536 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2638A>G (p.Thr880Ala)	single nucleotide variant	not provided [RCV003435587]	Chr8:105802720 [GRCh38] Chr8:106814948 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.251C>T (p.Ser84Leu)	single nucleotide variant	ZFPM2-related disorder [RCV003410373]	Chr8:105444331 [GRCh38] Chr8:106456559 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.963T>G (p.Ser321Arg)	single nucleotide variant	ZFPM2-related disorder [RCV003406161]	Chr8:105798947 [GRCh38] Chr8:106811175 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3377T>A (p.Ile1126Asn)	single nucleotide variant	ZFPM2-related disorder [RCV003427786]	Chr8:105803459 [GRCh38] Chr8:106815687 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2159G>A (p.Arg720Lys)	single nucleotide variant	ZFPM2-related disorder [RCV003400164]	Chr8:105802241 [GRCh38] Chr8:106814469 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3175C>T (p.Gln1059Ter)	single nucleotide variant	ZFPM2-related disorder [RCV003391296]	Chr8:105803257 [GRCh38] Chr8:106815485 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.662C>T (p.Ala221Val)	single nucleotide variant	ZFPM2-related disorder [RCV003414126]	Chr8:105788847 [GRCh38] Chr8:106801075 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1786A>G (p.Ser596Gly)	single nucleotide variant	46,XY sex reversal 9 [RCV003831499]	Chr8:105801868 [GRCh38] Chr8:106814096 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1947A>G (p.Gln649=)	single nucleotide variant	46,XY sex reversal 9 [RCV003749174]	Chr8:105802029 [GRCh38] Chr8:106814257 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1413G>C (p.Lys471Asn)	single nucleotide variant	46,XY sex reversal 9 [RCV003749645]	Chr8:105801495 [GRCh38] Chr8:106813723 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.41-10C>G	single nucleotide variant	46,XY sex reversal 9 [RCV003749684]	Chr8:105419134 [GRCh38] Chr8:106431362 [GRCh37] Chr8:8q23.1	benign
NM_012082.4(ZFPM2):c.2673C>G (p.Asp891Glu)	single nucleotide variant	46,XY sex reversal 9 [RCV003750047]\|ZFPM2-related disorder [RCV003966561]	Chr8:105802755 [GRCh38] Chr8:106814983 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.40+11G>C	single nucleotide variant	46,XY sex reversal 9 [RCV003834605]	Chr8:105318992 [GRCh38] Chr8:106331220 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.787C>T (p.Arg263Trp)	single nucleotide variant	46,XY sex reversal 9 [RCV003749710]	Chr8:105798771 [GRCh38] Chr8:106810999 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2147C>A (p.Pro716His)	single nucleotide variant	46,XY sex reversal 9 [RCV003749983]	Chr8:105802229 [GRCh38] Chr8:106814457 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3298C>G (p.Gln1100Glu)	single nucleotide variant	46,XY sex reversal 9 [RCV003748982]	Chr8:105803380 [GRCh38] Chr8:106815608 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.959A>G (p.His320Arg)	single nucleotide variant	46,XY sex reversal 9 [RCV003749135]	Chr8:105798943 [GRCh38] Chr8:106811171 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.477T>A (p.Asp159Glu)	single nucleotide variant	46,XY sex reversal 9 [RCV003749153]	Chr8:105634302 [GRCh38] Chr8:106646530 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1463T>C (p.Ile488Thr)	single nucleotide variant	46,XY sex reversal 9 [RCV003749736]\|Inborn genetic diseases [RCV004374339]	Chr8:105801545 [GRCh38] Chr8:106813773 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.964+4A>C	single nucleotide variant	46,XY sex reversal 9 [RCV003587477]	Chr8:105798952 [GRCh38] Chr8:106811180 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1183A>G (p.Ser395Gly)	single nucleotide variant	46,XY sex reversal 9 [RCV003587007]\|Inborn genetic diseases [RCV004369114]	Chr8:105801265 [GRCh38] Chr8:106813493 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.842C>G (p.Ala281Gly)	single nucleotide variant	46,XY sex reversal 9 [RCV003587389]	Chr8:105798826 [GRCh38] Chr8:106811054 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2910A>T (p.Gly970=)	single nucleotide variant	46,XY sex reversal 9 [RCV003587443]	Chr8:105802992 [GRCh38] Chr8:106815220 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.241G>A (p.Asp81Asn)	single nucleotide variant	46,XY sex reversal 9 [RCV003586651]	Chr8:105444321 [GRCh38] Chr8:106456549 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3366G>C (p.Arg1122=)	single nucleotide variant	46,XY sex reversal 9 [RCV003586883]	Chr8:105803448 [GRCh38] Chr8:106815676 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1254C>T (p.Ser418=)	single nucleotide variant	46,XY sex reversal 9 [RCV003748833]	Chr8:105801336 [GRCh38] Chr8:106813564 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.898_900dup (p.Phe300_Pro301insPhe)	duplication	46,XY sex reversal 9 [RCV003748835]	Chr8:105798880..105798881 [GRCh38] Chr8:106811108..106811109 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3262G>A (p.Glu1088Lys)	single nucleotide variant	46,XY sex reversal 9 [RCV003845401]	Chr8:105803344 [GRCh38] Chr8:106815572 [GRCh37] Chr8:8q23.1	uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not specified [RCV003986742]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_012082.4(ZFPM2):c.1892T>G (p.Val631Gly)	single nucleotide variant	46,XY sex reversal 9 [RCV003748585]	Chr8:105801974 [GRCh38] Chr8:106814202 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1186G>A (p.Asp396Asn)	single nucleotide variant	46,XY sex reversal 9 [RCV003588048]\|ZFPM2-related disorder [RCV003901213]	Chr8:105801268 [GRCh38] Chr8:106813496 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2311A>G (p.Thr771Ala)	single nucleotide variant	46,XY sex reversal 9 [RCV003747707]	Chr8:105802393 [GRCh38] Chr8:106814621 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.860A>G (p.Asn287Ser)	single nucleotide variant	46,XY sex reversal 9 [RCV003586903]	Chr8:105798844 [GRCh38] Chr8:106811072 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.873C>A (p.Ala291=)	single nucleotide variant	46,XY sex reversal 9 [RCV003747789]	Chr8:105798857 [GRCh38] Chr8:106811085 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2328C>T (p.Pro776=)	single nucleotide variant	46,XY sex reversal 9 [RCV003748668]	Chr8:105802410 [GRCh38] Chr8:106814638 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.3037G>C (p.Glu1013Gln)	single nucleotide variant	46,XY sex reversal 9 [RCV003748685]	Chr8:105803119 [GRCh38] Chr8:106815347 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.420+15C>T	single nucleotide variant	46,XY sex reversal 9 [RCV003823833]	Chr8:105561496 [GRCh38] Chr8:106573724 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1038C>T (p.Ser346=)	single nucleotide variant	46,XY sex reversal 9 [RCV003586713]\|ZFPM2-related disorder [RCV003901109]	Chr8:105801120 [GRCh38] Chr8:106813348 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.3418T>G (p.Phe1140Val)	single nucleotide variant	46,XY sex reversal 9 [RCV003586876]	Chr8:105803500 [GRCh38] Chr8:106815728 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3218A>T (p.His1073Leu)	single nucleotide variant	46,XY sex reversal 9 [RCV003586959]	Chr8:105803300 [GRCh38] Chr8:106815528 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1492C>T (p.Leu498=)	single nucleotide variant	46,XY sex reversal 9 [RCV003586902]	Chr8:105801574 [GRCh38] Chr8:106813802 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.2562C>T (p.His854=)	single nucleotide variant	46,XY sex reversal 9 [RCV003587127]	Chr8:105802644 [GRCh38] Chr8:106814872 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1456C>T (p.Pro486Ser)	single nucleotide variant	46,XY sex reversal 9 [RCV003587346]	Chr8:105801538 [GRCh38] Chr8:106813766 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.778C>T (p.Arg260Trp)	single nucleotide variant	Inborn genetic diseases [RCV004486208]	Chr8:105798762 [GRCh38] Chr8:106810990 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2189A>G (p.Gln730Arg)	single nucleotide variant	46,XY sex reversal 9 [RCV003993527]	Chr8:105802271 [GRCh38] Chr8:106814499 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1039G>A (p.Val347Met)	single nucleotide variant	Inborn genetic diseases [RCV004486197]	Chr8:105801121 [GRCh38] Chr8:106813349 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1480_1493del (p.Val494fs)	deletion	not provided [RCV003993322]	Chr8:105801559..105801572 [GRCh38] Chr8:106813787..106813800 [GRCh37] Chr8:8q23.1	likely pathogenic
NM_012082.4(ZFPM2):c.3229T>G (p.Ser1077Ala)	single nucleotide variant	Inborn genetic diseases [RCV004486203]	Chr8:105803311 [GRCh38] Chr8:106815539 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.358C>T (p.Leu120Phe)	single nucleotide variant	Inborn genetic diseases [RCV004486207]	Chr8:105561419 [GRCh38] Chr8:106573647 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1358G>T (p.Arg453Ile)	single nucleotide variant	Inborn genetic diseases [RCV004486200]	Chr8:105801440 [GRCh38] Chr8:106813668 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.333A>C (p.Glu111Asp)	single nucleotide variant	Inborn genetic diseases [RCV004486204]	Chr8:105561394 [GRCh38] Chr8:106573622 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.354G>T (p.Gln118His)	single nucleotide variant	Inborn genetic diseases [RCV004486205]	Chr8:105561415 [GRCh38] Chr8:106573643 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1402A>T (p.Thr468Ser)	single nucleotide variant	Inborn genetic diseases [RCV004486201]	Chr8:105801484 [GRCh38] Chr8:106813712 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.280A>G (p.Thr94Ala)	single nucleotide variant	ZFPM2-related disorder [RCV003901512]	Chr8:105444360 [GRCh38] Chr8:106456588 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.1797T>C (p.Thr599=)	single nucleotide variant	ZFPM2-related disorder [RCV003983463]	Chr8:105801879 [GRCh38] Chr8:106814107 [GRCh37] Chr8:8q23.1	likely benign
NM_012082.4(ZFPM2):c.10C>T (p.Arg4Ter)	single nucleotide variant	ZFPM2-related disorder [RCV003897282]	Chr8:105318951 [GRCh38] Chr8:106331179 [GRCh37] Chr8:8q23.1	likely pathogenic
NM_012082.4(ZFPM2):c.2021G>A (p.Ser674Asn)	single nucleotide variant	ZFPM2-related disorder [RCV003934425]	Chr8:105802103 [GRCh38] Chr8:106814331 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1196A>G (p.His399Arg)	single nucleotide variant	Inborn genetic diseases [RCV004486198]	Chr8:105801278 [GRCh38] Chr8:106813506 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2468G>C (p.Cys823Ser)	single nucleotide variant	Inborn genetic diseases [RCV004486202]	Chr8:105802550 [GRCh38] Chr8:106814778 [GRCh37] Chr8:8q23.1	uncertain significance
GRCh38/hg38 8q23.1(chr8:105628485-105634938)	copy number loss	Diaphragmatic hernia 3 [RCV004555208]	Chr8:105628485..105634938 [GRCh38] Chr8:8q23.1	likely pathogenic
NM_012082.4(ZFPM2):c.58A>G (p.Ile20Val)	single nucleotide variant	Inborn genetic diseases [RCV004687072]	Chr8:105419161 [GRCh38] Chr8:106431389 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1666A>T (p.Thr556Ser)	single nucleotide variant	Inborn genetic diseases [RCV004687074]	Chr8:105801748 [GRCh38] Chr8:106813976 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.488A>C (p.Gln163Pro)	single nucleotide variant	Inborn genetic diseases [RCV004687077]	Chr8:105634313 [GRCh38] Chr8:106646541 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2713C>T (p.Pro905Ser)	single nucleotide variant	Inborn genetic diseases [RCV004687073]	Chr8:105802795 [GRCh38] Chr8:106815023 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3137G>A (p.Gly1046Asp)	single nucleotide variant	not provided [RCV004698257]	Chr8:105803219 [GRCh38] Chr8:106815447 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.434A>C (p.Gln145Pro)	single nucleotide variant	Inborn genetic diseases [RCV004687075]	Chr8:105634259 [GRCh38] Chr8:106646487 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.3066T>A (p.Asn1022Lys)	single nucleotide variant	not specified [RCV004586080]	Chr8:105803148 [GRCh38] Chr8:106815376 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.1527G>T (p.Met509Ile)	single nucleotide variant	Inborn genetic diseases [RCV004687071]	Chr8:105801609 [GRCh38] Chr8:106813837 [GRCh37] Chr8:8q23.1	uncertain significance
NM_012082.4(ZFPM2):c.2206C>G (p.Arg736Gly)	single nucleotide variant	Inborn genetic diseases [RCV004687076]	Chr8:105802288 [GRCh38] Chr8:106814516 [GRCh37] Chr8:8q23.1	uncertain significance

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR429	hsa-miR-429	Mirecords	external_info	NA	NA	20005803
MIR200B	hsa-miR-200b-3p	Mirtarbase	external_info	Luciferase reporter assay//Western blot//Reporter	Functional MTI	20005803
MIR200B	hsa-miR-200b-5p	Mirecords	external_info	NA	NA	20005803
MIR200A	hsa-miR-200a-3p	Mirtarbase	external_info	Luciferase reporter assay//Western blot//Reporter	Functional MTI	20005803
MIR200A	hsa-miR-200a-3p	Mirecords	external_info	NA	NA	20005803
MIR429	hsa-miR-429	Mirtarbase	external_info	Luciferase reporter assay//Western blot//Reporter	Functional MTI	20005803
MIR200C	hsa-miR-200c-3p	Mirtarbase	external_info	Luciferase reporter assay//Western blot//Reporter	Functional MTI	20005803
MIR200C	hsa-miR-200c-5p	Mirecords	external_info	NA	NA	20005803
MIR141	hsa-miR-141-3p	Mirtarbase	external_info	Luciferase reporter assay//Western blot//Reporter	Functional MTI	20005803
MIR141	hsa-miR-141-3p	Mirecords	external_info	NA	NA	20005803

Predicted Target Of

	Summary Value
Count of predictions:	1364
Count of miRNA genes:	658
Interacting mature miRNAs:	786
Transcripts:	ENST00000378472, ENST00000407775, ENST00000511341, ENST00000517361, ENST00000520027, ENST00000520492, ENST00000522160, ENST00000522296, ENST00000524235
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
406888516	GWAS537492_H	dickkopf‐related protein 1 measurement QTL GWAS537492 (human)		7e-14	dickkopf‐related protein 1 measurement		8	105569300	105569301	Human
407316563	GWAS965539_H	diet measurement QTL GWAS965539 (human)		4e-11	diet measurement	food intake measurement (CMO:0000772)	8	105437494	105437501	Human
406888542	GWAS537518_H	blood protein measurement QTL GWAS537518 (human)		2e-94	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407070819	GWAS719795_H	body mass index QTL GWAS719795 (human)		5e-09	body mass index	body mass index (BMI) (CMO:0000105)	8	105418448	105418449	Human
407152740	GWAS801716_H	platelet count QTL GWAS801716 (human)		7e-12	platelet quantity (VT:0003179)	mean platelet volume (CMO:0001348)	8	105578477	105578478	Human
407192677	GWAS841653_H	CXCL5 measurement QTL GWAS841653 (human)		1e-23	CXCL5 measurement		8	105578477	105578478	Human
406888545	GWAS537521_H	blood protein measurement QTL GWAS537521 (human)		9e-29	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888546	GWAS537522_H	blood protein measurement QTL GWAS537522 (human)		4e-22	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888549	GWAS537525_H	blood protein measurement QTL GWAS537525 (human)		8e-77	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888550	GWAS537526_H	blood protein measurement QTL GWAS537526 (human)		1e-49	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888552	GWAS537528_H	blood protein measurement QTL GWAS537528 (human)		3e-91	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888553	GWAS537529_H	blood protein measurement QTL GWAS537529 (human)		4e-118	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407338093	GWAS987069_H	pulse pressure measurement QTL GWAS987069 (human)		5e-09	pulse pressure measurement	pulse pressure (CMO:0000292)	8	105353030	105353031	Human
406948972	GWAS597948_H	pleckstrin homology domain-containing family A member 1 measurement QTL GWAS597948 (human)		7e-16	pleckstrin homology domain-containing family A member 1 measurement		8	105566749	105566750	Human
406888558	GWAS537534_H	blood protein measurement QTL GWAS537534 (human)		2e-61	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888559	GWAS537535_H	blood protein measurement QTL GWAS537535 (human)		4e-109	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888560	GWAS537536_H	blood protein measurement QTL GWAS537536 (human)		9e-87	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888561	GWAS537537_H	blood protein measurement QTL GWAS537537 (human)		9e-101	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406991994	GWAS640970_H	C-X-C motif chemokine 5 measurement QTL GWAS640970 (human)		2e-36	C-X-C motif chemokine 5 measurement		8	105569300	105569301	Human
406896764	GWAS545740_H	platelet measurement QTL GWAS545740 (human)		3e-29	platelet measurement	platelet measurement (CMO:0000921)	8	105578477	105578478	Human
407217159	GWAS866135_H	neutrophil-activating peptide 2 measurement QTL GWAS866135 (human)		1e-13	neutrophil-activating peptide 2 measurement	blood plasminogen activator inhibitor 1 level (CMO:0003034)	8	105569300	105569301	Human
407217153	GWAS866129_H	platelet-derived growth factor subunit A measurement QTL GWAS866129 (human)		2e-15	platelet-derived growth factor subunit A measurement		8	105569300	105569301	Human
407217155	GWAS866131_H	platelet-derived growth factor D measurement QTL GWAS866131 (human)		3e-26	platelet-derived growth factor D measurement		8	105569300	105569301	Human
407114765	GWAS763741_H	electrocardiography QTL GWAS763741 (human)		1e-12	electrocardiography		8	105335669	105335670	Human
406888457	GWAS537433_H	erythrocyte count QTL GWAS537433 (human)		1e-11	DnaJ homolog subfamily B member 11 measurement	red blood cell count (CMO:0000025)	8	105569300	105569301	Human
407114766	GWAS763742_H	electrocardiography QTL GWAS763742 (human)		3e-13	Brugada syndrome		8	105335669	105335670	Human
407084041	GWAS733017_H	blood protein measurement QTL GWAS733017 (human)		2e-26	blood protein measurement	blood protein measurement (CMO:0000028)	8	105502951	105502952	Human
407114767	GWAS763743_H	electrocardiography QTL GWAS763743 (human)		5e-14	electrocardiography		8	105335669	105335670	Human
406953997	GWAS602973_H	interstitial collagenase measurement QTL GWAS602973 (human)		1e-12	interstitial collagenase measurement		8	105566749	105566750	Human
406887436	GWAS536412_H	vascular endothelial growth factor measurement QTL GWAS536412 (human)		5e-23	vascular endothelial growth factor measurement	blood vascular endothelial growth factor A level (CMO:0003051)	8	105569300	105569301	Human
407151637	GWAS800613_H	mean platelet volume QTL GWAS800613 (human)		3e-22	mean platelet volume	mean platelet volume (CMO:0001348)	8	105500253	105500254	Human
407220246	GWAS869222_H	liver fibrosis measurement QTL GWAS869222 (human)		0.0000002	liver integrity trait (VT:0010547)	liver fibrotic lesion measurement (CMO:0001088)	8	105558736	105558737	Human
407114768	GWAS763744_H	electrocardiography QTL GWAS763744 (human)		7e-14	electrocardiography		8	105335669	105335670	Human
407001110	GWAS650086_H	PR interval QTL GWAS650086 (human)		4e-10	PR interval	PR interval (CMO:0000233)	8	105503826	105503827	Human
407346215	GWAS995191_H	systolic blood pressure QTL GWAS995191 (human)		6e-11	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	105353030	105353031	Human
406923305	GWAS572281_H	leukocyte count QTL GWAS572281 (human)		6e-20	leukocyte quantity (VT:0000217)	white blood cell count (CMO:0000027)	8	105570896	105570897	Human
406887467	GWAS536443_H	platelet count QTL GWAS536443 (human)		1e-10	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105569300	105569301	Human
406888491	GWAS537467_H	blood protein measurement QTL GWAS537467 (human)		8e-533	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406887472	GWAS536448_H	platelet crit QTL GWAS536448 (human)		2e-110	platelet crit	plateletcrit (CMO:0001349)	8	105569300	105569301	Human
406923313	GWAS572289_H	vascular endothelial growth factor A measurement QTL GWAS572289 (human)		3e-20	angiopoietin-1 measurement	blood vascular endothelial growth factor A level (CMO:0003051)	8	105569300	105569301	Human
406887473	GWAS536449_H	platelet count QTL GWAS536449 (human)		2e-169	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105569300	105569301	Human
407108657	GWAS757633_H	erythrocyte count QTL GWAS757633 (human)		1e-11	erythrocyte count	red blood cell count (CMO:0000025)	8	105367135	105367136	Human
407220280	GWAS869256_H	self reported educational attainment QTL GWAS869256 (human)		2e-09	self reported educational attainment		8	105547491	105547492	Human
406945985	GWAS594961_H	protein measurement QTL GWAS594961 (human)		1e-28	protein measurement		8	105569300	105569301	Human
406956232	GWAS605208_H	platelet count QTL GWAS605208 (human)		2e-11	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105560042	105560043	Human
406892745	GWAS541721_H	platelet component distribution width QTL GWAS541721 (human)		2e-52	platelet component distribution width	platelet distribution width (CMO:0001350)	8	105569300	105569301	Human
407110856	GWAS759832_H	mathematical ability QTL GWAS759832 (human)		2e-11	mathematical ability		8	105517074	105517075	Human
407150792	GWAS799768_H	mean platelet volume QTL GWAS799768 (human)		2e-41	mean platelet volume	mean platelet volume (CMO:0001348)	8	105578477	105578478	Human
407154900	GWAS803876_H	mean platelet volume QTL GWAS803876 (human)		3e-46	mean platelet volume	mean platelet volume (CMO:0001348)	8	105578477	105578478	Human
407154899	GWAS803875_H	mean platelet volume QTL GWAS803875 (human)		1e-24	mean platelet volume	mean platelet volume (CMO:0001348)	8	105500253	105500254	Human
406888665	GWAS537641_H	blood protein measurement QTL GWAS537641 (human)		5e-36	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407110878	GWAS759854_H	mathematical ability QTL GWAS759854 (human)		2e-09	mathematical ability		8	105535755	105535756	Human
406888666	GWAS537642_H	blood protein measurement QTL GWAS537642 (human)		4e-27	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888668	GWAS537644_H	blood protein measurement QTL GWAS537644 (human)		4e-206	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407193816	GWAS842792_H	immature platelet fraction QTL GWAS842792 (human)		9e-34	immature platelet fraction		8	105569300	105569301	Human
406888670	GWAS537646_H	blood protein measurement QTL GWAS537646 (human)		2e-120	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888673	GWAS537649_H	blood protein measurement QTL GWAS537649 (human)		7e-33	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888674	GWAS537650_H	blood protein measurement QTL GWAS537650 (human)		3e-321	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406944995	GWAS593971_H	testican-3 measurement QTL GWAS593971 (human)		1e-15	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	8	105569300	105569301	Human
406888679	GWAS537655_H	blood protein measurement QTL GWAS537655 (human)		6e-156	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407175405	GWAS824381_H	blood protein measurement QTL GWAS824381 (human)		7e-15	blood protein measurement	blood protein measurement (CMO:0000028)	8	105500600	105500601	Human
406888680	GWAS537656_H	blood protein measurement QTL GWAS537656 (human)		3e-134	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888681	GWAS537657_H	blood protein measurement QTL GWAS537657 (human)		4e-52	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888682	GWAS537658_H	blood protein measurement QTL GWAS537658 (human)		9e-191	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888683	GWAS537659_H	blood protein measurement QTL GWAS537659 (human)		9e-45	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888684	GWAS537660_H	blood protein measurement QTL GWAS537660 (human)		4e-58	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406967533	GWAS616509_H	tumor necrosis factor receptor superfamily member EDAR measurement QTL GWAS616509 (human)		9e-17	tumor necrosis factor receptor superfamily member EDAR measurement		8	105570896	105570897	Human
406888685	GWAS537661_H	blood protein measurement QTL GWAS537661 (human)		2e-35	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888686	GWAS537662_H	blood protein measurement QTL GWAS537662 (human)		7e-138	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888687	GWAS537663_H	blood protein measurement QTL GWAS537663 (human)		6e-144	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888688	GWAS537664_H	blood protein measurement QTL GWAS537664 (human)		2e-84	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888689	GWAS537665_H	blood protein measurement QTL GWAS537665 (human)		5e-202	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407107826	GWAS756802_H	basophil count QTL GWAS756802 (human)		1e-12	basophil quantity (VT:0002607)	blood basophil count (CMO:0000034)	8	105578477	105578478	Human
406888690	GWAS537666_H	blood protein measurement QTL GWAS537666 (human)		8e-51	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888691	GWAS537667_H	blood protein measurement QTL GWAS537667 (human)		1e-411	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406896884	GWAS545860_H	breast carcinoma QTL GWAS545860 (human)		8e-11	breast carcinoma		8	105346392	105346393	Human
406888692	GWAS537668_H	blood protein measurement QTL GWAS537668 (human)		1e-96	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888693	GWAS537669_H	blood protein measurement QTL GWAS537669 (human)		3e-34	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407113981	GWAS762957_H	electrocardiography QTL GWAS762957 (human)		3e-09	electrocardiography		8	105335669	105335670	Human
407113982	GWAS762958_H	electrocardiography QTL GWAS762958 (human)		2e-08	electrocardiography		8	105335669	105335670	Human
407113983	GWAS762959_H	electrocardiography QTL GWAS762959 (human)		1e-08	QT interval	QT interval (CMO:0000235)	8	105335669	105335670	Human
407100559	GWAS749535_H	mathematical ability QTL GWAS749535 (human)		3e-10	mathematical ability		8	105517074	105517075	Human
407027856	GWAS676832_H	birth weight QTL GWAS676832 (human)		2e-09	birth weight	neonatal body weight (CMO:0002079)	8	105627695	105627696	Human
407142556	GWAS791532_H	platelet count QTL GWAS791532 (human)		8e-143	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105569300	105569301	Human
407203996	GWAS852972_H	platelet component distribution width QTL GWAS852972 (human)		1e-13	platelet component distribution width	platelet distribution width (CMO:0001350)	8	105661572	105661573	Human
407418001	GWAS1066977_H	systolic blood pressure QTL GWAS1066977 (human)		7e-11	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	105712958	105712959	Human
406972570	GWAS621546_H	serine protease 27 measurement QTL GWAS621546 (human)		2e-14	serine protease 27 measurement		8	105561691	105561692	Human
407142554	GWAS791530_H	monocyte count QTL GWAS791530 (human)		1e-09	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	8	105569300	105569301	Human
407106723	GWAS755699_H	electrocardiography QTL GWAS755699 (human)		1e-18	QT interval	QT interval (CMO:0000235)	8	105335669	105335670	Human
406937761	GWAS586737_H	interleukin 12 measurement QTL GWAS586737 (human)		0.0000001	interleukin 12 measurement		8	105569300	105569301	Human
406888609	GWAS537585_H	blood protein measurement QTL GWAS537585 (human)		5e-35	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888611	GWAS537587_H	blood protein measurement QTL GWAS537587 (human)		8e-46	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406937762	GWAS586738_H	interferon gamma measurement, platelet-derived growth factor BB measurement, interleukin 4 measurement, interleukin 10 measurement, stromal cell-derived factor 1 alpha measurement, interleukin-6 measurement, interleukin 12 measurement, interleukin 17 measurement, vascular endothelial growth factor measurement, fibroblast growth factor basic measurement, granulocyte colony-stimulating factor measurement QTL GWAS586738 (human)		5e-08	interferon gamma measurement, platelet-derived growth factor BB measurement, interleukin 4 measurement, interleukin 10 measurement, stromal cell-derived factor 1 alpha measurement, interleukin-6 measurement, interleukin 12 measurement, interleukin 17 measurement, vascular endothelial growth factor measurement, fibroblast growth factor basic measurement, granulocyte colony-stimulating factor measurement	blood vascular endothelial growth factor A level (CMO:0003051)	8	105569300	105569301	Human
407106727	GWAS755703_H	electrocardiography QTL GWAS755703 (human)		2e-20	electrocardiography		8	105335669	105335670	Human
406888612	GWAS537588_H	blood protein measurement QTL GWAS537588 (human)		2e-82	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407106726	GWAS755702_H	electrocardiography QTL GWAS755702 (human)		3e-20	electrocardiography		8	105335669	105335670	Human
407106725	GWAS755701_H	electrocardiography QTL GWAS755701 (human)		9e-20	electrocardiography		8	105335669	105335670	Human
406888614	GWAS537590_H	blood protein measurement QTL GWAS537590 (human)		4e-56	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406955174	GWAS604150_H	protein measurement QTL GWAS604150 (human)		2e-64	protein measurement		8	105569300	105569301	Human
406923430	GWAS572406_H	myeloid white cell count QTL GWAS572406 (human)		4e-29	myeloid white cell count	white blood cell count (CMO:0000027)	8	105570896	105570897	Human
407106731	GWAS755707_H	electrocardiography QTL GWAS755707 (human)		2e-21	electrocardiography		8	105335669	105335670	Human
406888616	GWAS537592_H	blood protein measurement QTL GWAS537592 (human)		2e-124	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407106730	GWAS755706_H	electrocardiography QTL GWAS755706 (human)		1e-20	electrocardiography		8	105335669	105335670	Human
407106729	GWAS755705_H	electrocardiography QTL GWAS755705 (human)		5e-22	electrocardiography		8	105335669	105335670	Human
406949034	GWAS598010_H	Takayasu arteritis QTL GWAS598010 (human)		0.000002	Takayasu arteritis		8	105325989	105325990	Human
407106728	GWAS755704_H	electrocardiography QTL GWAS755704 (human)		5e-21	electrocardiography		8	105335669	105335670	Human
406948010	GWAS596986_H	PR interval QTL GWAS596986 (human)		7e-22	electrocardiography	PR interval (CMO:0000233)	8	105335669	105335670	Human
406888620	GWAS537596_H	blood protein measurement QTL GWAS537596 (human)		1e-46	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406920365	GWAS569341_H	hematocrit QTL GWAS569341 (human)		5e-11	hematocrit	hematocrit (CMO:0000037)	8	105570896	105570897	Human
406888621	GWAS537597_H	blood protein measurement QTL GWAS537597 (human)		1e-42	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888622	GWAS537598_H	blood protein measurement QTL GWAS537598 (human)		2e-60	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407106732	GWAS755708_H	electrocardiography QTL GWAS755708 (human)		4e-21	electrocardiography		8	105335669	105335670	Human
406888623	GWAS537599_H	blood protein measurement QTL GWAS537599 (human)		8e-56	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888626	GWAS537602_H	vascular endothelial growth factor measurement QTL GWAS537602 (human)		4e-36	vascular endothelial growth factor measurement	blood vascular endothelial growth factor A level (CMO:0003051)	8	105569300	105569301	Human
406938806	GWAS587782_H	endoplasmic reticulum resident protein 44 measurement QTL GWAS587782 (human)		2e-19	endoplasmic reticulum resident protein 44 measurement		8	105569300	105569301	Human
406892729	GWAS541705_H	mean platelet volume QTL GWAS541705 (human)		1e-34	mean platelet volume	mean platelet volume (CMO:0001348)	8	105569300	105569301	Human
406892731	GWAS541707_H	platelet count QTL GWAS541707 (human)		1e-67	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105569300	105569301	Human
406992062	GWAS641038_H	C-X-C motif chemokine 6 measurement QTL GWAS641038 (human)		9e-13	C-X-C motif chemokine 6 measurement		8	105569300	105569301	Human
407163065	GWAS812041_H	tuberculosis QTL GWAS812041 (human)		0.000003	tuberculosis		8	105601093	105601094	Human
406886590	GWAS535566_H	mean platelet volume QTL GWAS535566 (human)		8e-111	mean platelet volume	mean platelet volume (CMO:0001348)	8	105569300	105569301	Human
406888638	GWAS537614_H	matrix metalloproteinase 1 measurement QTL GWAS537614 (human)		4e-24	matrix metalloproteinase 1 measurement		8	105569300	105569301	Human
407149754	GWAS798730_H	platelet count QTL GWAS798730 (human)		2e-28	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105570896	105570897	Human
406965569	GWAS614545_H	platelet count QTL GWAS614545 (human)		2e-82	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105560042	105560043	Human
406992196	GWAS641172_H	protein measurement QTL GWAS641172 (human)		7e-29	protein measurement		8	105569300	105569301	Human
406943050	GWAS592026_H	gamma-enolase measurement QTL GWAS592026 (human)		1e-24	mitogen-activated protein kinase 8 measurement		8	105569300	105569301	Human
407161160	GWAS810136_H	immature platelet count QTL GWAS810136 (human)		1e-21	lysosomal protective protein measurement		8	105569300	105569301	Human
406992211	GWAS641187_H	protein measurement QTL GWAS641187 (human)		9e-13	protein measurement		8	105560042	105560043	Human
406968661	GWAS617637_H	vascular endothelial growth factor A measurement QTL GWAS617637 (human)		3e-20	vascular endothelial growth factor A measurement	blood vascular endothelial growth factor A level (CMO:0003051)	8	105560042	105560043	Human
406887773	GWAS536749_H	platelet count QTL GWAS536749 (human)		2e-13	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105569300	105569301	Human
407127386	GWAS776362_H	basophil count QTL GWAS776362 (human)		5e-15	basophil quantity (VT:0002607)	blood fibrinogen level (CMO:0000209)	8	105578477	105578478	Human
406972766	GWAS621742_H	C-X-C motif chemokine 11 measurement QTL GWAS621742 (human)		9e-32	C-X-C motif chemokine 11 measurement		8	105569300	105569301	Human
406888800	GWAS537776_H	blood protein measurement QTL GWAS537776 (human)		8e-15	C-C motif chemokine 17 measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888801	GWAS537777_H	blood protein measurement QTL GWAS537777 (human)		6e-18	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888802	GWAS537778_H	Dickkopf-related protein 4 measurement QTL GWAS537778 (human)		3e-15	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105569300	105569301	Human
407373164	GWAS1022140_H	platelet-derived growth factor BB measurement QTL GWAS1022140 (human)		2e-21	platelet-derived growth factor BB measurement		8	105561296	105561297	Human
406888808	GWAS537784_H	vascular endothelial growth factor A measurement QTL GWAS537784 (human)		1e-18	platelet measurement	platelet measurement (CMO:0000921)	8	105569300	105569301	Human
406890857	GWAS539833_H	platelet count QTL GWAS539833 (human)		3e-280	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105569300	105569301	Human
406888810	GWAS537786_H	blood protein measurement QTL GWAS537786 (human)		2e-17	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888811	GWAS537787_H	blood protein measurement QTL GWAS537787 (human)		3e-18	galectin-7 measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407373155	GWAS1022131_H	CD40 ligand measurement QTL GWAS1022131 (human)		3e-10	CD40 ligand measurement		8	105578478	105578479	Human
406888812	GWAS537788_H	blood protein measurement QTL GWAS537788 (human)		7e-35	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407380324	GWAS1029300_H	venous thromboembolism QTL GWAS1029300 (human)		5e-10	venous thromboembolism		8	105578478	105578479	Human
407230844	GWAS879820_H	electrocardiography QTL GWAS879820 (human)		4e-08	electrocardiography		8	105581477	105581479	Human
406888828	GWAS537804_H	blood protein measurement QTL GWAS537804 (human)		3e-325	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406946174	GWAS595150_H	coronary artery disease QTL GWAS595150 (human)		8e-11	coronary artery disease		8	105500253	105500254	Human
407113984	GWAS762960_H	electrocardiography QTL GWAS762960 (human)		4e-08	electrocardiography		8	105335669	105335670	Human
407113985	GWAS762961_H	electrocardiography QTL GWAS762961 (human)		6e-10	electrocardiography		8	105335669	105335670	Human
407055626	GWAS704602_H	hemoglobin measurement QTL GWAS704602 (human)		4e-11	hemoglobin measurement	hemoglobin measurement (CMO:0000508)	8	105578478	105578479	Human
406979849	GWAS628825_H	myocardial infarction QTL GWAS628825 (human)		0.000003	myocardial infarction		8	105542509	105542510	Human
406960398	GWAS609374_H	aflatoxin B1 aldehyde reductase member 2 measurement QTL GWAS609374 (human)		3e-13	aflatoxin B1 aldehyde reductase member 2 measurement		8	105569300	105569301	Human
407332119	GWAS981095_H	C-reactive protein measurement QTL GWAS981095 (human)		2e-08	C-reactive protein measurement	blood C-reactive protein level (CMO:0003160)	8	105407526	105407527	Human
406971669	GWAS620645_H	monocyte count QTL GWAS620645 (human)		5e-16	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	8	105560042	105560043	Human
406953238	GWAS602214_H	vascular endothelial growth factor A, isoform 121 measurement QTL GWAS602214 (human)		7e-30	vascular endothelial growth factor A, isoform 121 measurement		8	105570896	105570897	Human
406888729	GWAS537705_H	blood protein measurement QTL GWAS537705 (human)		6e-46	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888730	GWAS537706_H	blood protein measurement QTL GWAS537706 (human)		3e-42	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888731	GWAS537707_H	blood protein measurement QTL GWAS537707 (human)		3e-33	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407182617	GWAS831593_H	platelet count QTL GWAS831593 (human)		4e-10	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105558736	105558737	Human
406888733	GWAS537709_H	blood protein measurement QTL GWAS537709 (human)		1e-387	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406947100	GWAS596076_H	rho GTPase-activating protein 1 measurement QTL GWAS596076 (human)		3e-16	rho GTPase-activating protein 1 measurement		8	105570896	105570897	Human
406888735	GWAS537711_H	blood protein measurement QTL GWAS537711 (human)		4e-21	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406947102	GWAS596078_H	rho GTPase-activating protein 1 measurement QTL GWAS596078 (human)		6e-19	rho GTPase-activating protein 1 measurement		8	105570896	105570897	Human
406890784	GWAS539760_H	platelet count QTL GWAS539760 (human)		9e-254	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105569300	105569301	Human
406888739	GWAS537715_H	blood protein measurement QTL GWAS537715 (human)		6e-50	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888740	GWAS537716_H	blood protein measurement QTL GWAS537716 (human)		2e-50	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888741	GWAS537717_H	blood protein measurement QTL GWAS537717 (human)		4e-69	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407315745	GWAS964721_H	JT interval QTL GWAS964721 (human)		2e-25	JT interval	heart electrical conduction measurement (CMO:0000230)	8	105335669	105335670	Human
406888742	GWAS537718_H	blood protein measurement QTL GWAS537718 (human)		3e-57	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406943024	GWAS592000_H	fibroblast growth factor 2 measurement QTL GWAS592000 (human)		9e-15	fibroblast growth factor 2 measurement		8	105519082	105519083	Human
406975792	GWAS624768_H	disks large homolog 3 measurement QTL GWAS624768 (human)		4e-48	disks large homolog 3 measurement		8	105569300	105569301	Human
407218487	GWAS867463_H	dickkopf‐related protein 1 measurement QTL GWAS867463 (human)		3e-43	dickkopf‐related protein 1 measurement		8	105578477	105578478	Human
406888756	GWAS537732_H	calcium measurement QTL GWAS537732 (human)		4e-15	calcium measurement	blood calcium level (CMO:0000502)	8	105569300	105569301	Human
406973755	GWAS622731_H	lysosomal protective protein measurement QTL GWAS622731 (human)		7e-23	lysosomal protective protein measurement		8	105578477	105578478	Human
406887741	GWAS536717_H	platelet count QTL GWAS536717 (human)		4e-17	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105569300	105569301	Human
407049666	GWAS698642_H	coronary artery calcification QTL GWAS698642 (human)		0.000006	coronary artery calcification		8	105497747	105497748	Human
407232962	GWAS881938_H	blood protein measurement QTL GWAS881938 (human)		7e-66	blood protein measurement	blood protein measurement (CMO:0000028)	8	105502951	105502952	Human
406888903	GWAS537879_H	blood protein measurement QTL GWAS537879 (human)		1e-122	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888904	GWAS537880_H	blood protein measurement QTL GWAS537880 (human)		9e-130	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888905	GWAS537881_H	blood protein measurement QTL GWAS537881 (human)		5e-96	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407252428	GWAS901404_H	hemoglobin measurement QTL GWAS901404 (human)		4e-08	hemoglobin measurement	hemoglobin measurement (CMO:0000508)	8	105577019	105577020	Human
407400901	GWAS1049877_H	human papilloma virus infection, oral cavity cancer QTL GWAS1049877 (human)		0.000004	human papilloma virus infection, oral cavity cancer		8	105552424	105552425	Human
407114196	GWAS763172_H	electrocardiography QTL GWAS763172 (human)		7e-17	electrocardiography		8	105335669	105335670	Human
407114197	GWAS763173_H	electrocardiography QTL GWAS763173 (human)		4e-19	electrocardiography		8	105335669	105335670	Human
407114198	GWAS763174_H	electrocardiography QTL GWAS763174 (human)		2e-18	electrocardiography		8	105335669	105335670	Human
407114199	GWAS763175_H	electrocardiography QTL GWAS763175 (human)		2e-14	electrocardiography		8	105335669	105335670	Human
407114192	GWAS763168_H	electrocardiography QTL GWAS763168 (human)		6e-15	electrocardiography		8	105335669	105335670	Human
407114193	GWAS763169_H	electrocardiography QTL GWAS763169 (human)		2e-15	electrocardiography		8	105335669	105335670	Human
407114194	GWAS763170_H	electrocardiography QTL GWAS763170 (human)		8e-17	electrocardiography		8	105335669	105335670	Human
407114195	GWAS763171_H	electrocardiography QTL GWAS763171 (human)		2e-16	electrocardiography		8	105335669	105335670	Human
407114204	GWAS763180_H	electrocardiography QTL GWAS763180 (human)		2e-09	electrocardiography		8	105335669	105335670	Human
407107039	GWAS756015_H	electrocardiography QTL GWAS756015 (human)		3e-22	electrocardiography		8	105335669	105335670	Human
407114200	GWAS763176_H	electrocardiography QTL GWAS763176 (human)		5e-16	electrocardiography		8	105335669	105335670	Human
407107038	GWAS756014_H	electrocardiography QTL GWAS756014 (human)		7e-21	electrocardiography		8	105335669	105335670	Human
407114201	GWAS763177_H	electrocardiography QTL GWAS763177 (human)		3e-17	electrocardiography		8	105335669	105335670	Human
407052766	GWAS701742_H	unipolar depression QTL GWAS701742 (human)		0.000002	unipolar depression		8	105485315	105485316	Human
407114202	GWAS763178_H	electrocardiography QTL GWAS763178 (human)		8e-18	electrocardiography		8	105335669	105335670	Human
407114203	GWAS763179_H	electrocardiography QTL GWAS763179 (human)		4e-09	electrocardiography		8	105335669	105335670	Human
406992370	GWAS641346_H	cystatin-F measurement QTL GWAS641346 (human)		1e-29	cystatin-F measurement		8	105578478	105578479	Human
406886904	GWAS535880_H	mean platelet volume QTL GWAS535880 (human)		1e-109	mean platelet volume	mean platelet volume (CMO:0001348)	8	105569300	105569301	Human
406887933	GWAS536909_H	blood protein measurement QTL GWAS536909 (human)		4e-105	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406887934	GWAS536910_H	blood protein measurement QTL GWAS536910 (human)		9e-49	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406891904	GWAS540880_H	platelet count QTL GWAS540880 (human)		3e-08	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105569300	105569301	Human
406888833	GWAS537809_H	blood protein measurement QTL GWAS537809 (human)		8e-23	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888834	GWAS537810_H	blood protein measurement QTL GWAS537810 (human)		9e-431	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407190919	GWAS839895_H	platelet measurement QTL GWAS839895 (human)		3e-20	platelet measurement	platelet measurement (CMO:0000921)	8	105570896	105570897	Human
406888835	GWAS537811_H	blood protein measurement QTL GWAS537811 (human)		3e-48	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406949250	GWAS598226_H	protein measurement QTL GWAS598226 (human)		4e-13	platelet-derived growth factor subunit b measurement		8	105569300	105569301	Human
406888836	GWAS537812_H	blood protein measurement QTL GWAS537812 (human)		5e-30	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406887812	GWAS536788_H	mean platelet volume QTL GWAS536788 (human)		2e-70	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888837	GWAS537813_H	blood protein measurement QTL GWAS537813 (human)		7e-28	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888838	GWAS537814_H	blood protein measurement QTL GWAS537814 (human)		5e-67	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888839	GWAS537815_H	blood protein measurement QTL GWAS537815 (human)		2e-89	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888841	GWAS537817_H	blood protein measurement QTL GWAS537817 (human)		3e-93	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407186831	GWAS835807_H	coronary artery disease QTL GWAS835807 (human)		0.000004	coronary artery disease		8	105553186	105553187	Human
407142799	GWAS791775_H	erythrocyte count QTL GWAS791775 (human)		2e-11	erythrocyte count	red blood cell count (CMO:0000025)	8	105569300	105569301	Human
406992268	GWAS641244_H	Dickkopf-related protein 4 measurement QTL GWAS641244 (human)		3e-24	Dickkopf-related protein 4 measurement		8	105569300	105569301	Human
406888847	GWAS537823_H	blood protein measurement QTL GWAS537823 (human)		8e-62	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406972814	GWAS621790_H	myeloid white cell count QTL GWAS621790 (human)		1e-26	myeloid white cell count	white blood cell count (CMO:0000027)	8	105570896	105570897	Human
407138710	GWAS787686_H	body mass index QTL GWAS787686 (human)		3e-08	body mass index	body mass index (BMI) (CMO:0000105)	8	105421573	105421574	Human
406888854	GWAS537830_H	blood protein measurement QTL GWAS537830 (human)		7e-423	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407293329	GWAS942305_H	high density lipoprotein cholesterol measurement QTL GWAS942305 (human)		7e-09	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	8	105359952	105359953	Human
406958491	GWAS607467_H	protein measurement QTL GWAS607467 (human)		5e-105	protein measurement		8	105569300	105569301	Human
407212443	GWAS861419_H	leukocyte count QTL GWAS861419 (human)		4e-16	leukocyte quantity (VT:0000217)	white blood cell count (CMO:0000027)	8	105558736	105558737	Human
407330221	GWAS979197_H	QT interval QTL GWAS979197 (human)		5e-08	QT interval	QT interval (CMO:0000235)	8	105335669	105335670	Human
407074217	GWAS723193_H	body mass index QTL GWAS723193 (human)		4e-09	body mass index	body mass index (BMI) (CMO:0000105)	8	105452043	105452044	Human
406970809	GWAS619785_H	glutathione peroxidase 7 measurement QTL GWAS619785 (human)		1e-20	glutathione peroxidase 7 measurement		8	105569300	105569301	Human
406951352	GWAS600328_H	plasminogen activator inhibitor 1 measurement QTL GWAS600328 (human)		5e-14	plasminogen activator inhibitor 1 measurement	blood plasminogen activator inhibitor 1 level (CMO:0003034)	8	105569300	105569301	Human
407069119	GWAS718095_H	conotruncal heart malformations QTL GWAS718095 (human)		0.000008	conotruncal heart malformations		8	105501233	105501234	Human
406888000	GWAS536976_H	blood protein measurement QTL GWAS536976 (human)		5e-101	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888001	GWAS536977_H	blood protein measurement QTL GWAS536977 (human)		1e-110	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888002	GWAS536978_H	blood protein measurement QTL GWAS536978 (human)		3e-287	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407005761	GWAS654737_H	venous thromboembolism QTL GWAS654737 (human)		0.0000005	venous thromboembolism		8	105578478	105578479	Human
407124544	GWAS773520_H	basophil count QTL GWAS773520 (human)		3e-16	basophil quantity (VT:0002607)	blood basophil count (CMO:0000034)	8	105578477	105578478	Human
406888008	GWAS536984_H	blood protein measurement QTL GWAS536984 (human)		9e-199	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888010	GWAS536986_H	blood protein measurement QTL GWAS536986 (human)		6e-94	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888012	GWAS536988_H	blood protein measurement QTL GWAS536988 (human)		2e-87	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888014	GWAS536990_H	blood protein measurement QTL GWAS536990 (human)		8e-146	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407127627	GWAS776603_H	neutrophil count QTL GWAS776603 (human)		6e-16	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	8	105561296	105561297	Human
406888015	GWAS536991_H	blood protein measurement QTL GWAS536991 (human)		4e-226	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888016	GWAS536992_H	blood protein measurement QTL GWAS536992 (human)		2e-56	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888017	GWAS536993_H	blood protein measurement QTL GWAS536993 (human)		3e-254	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888018	GWAS536994_H	blood protein measurement QTL GWAS536994 (human)		5e-314	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407112273	GWAS761249_H	electrocardiography QTL GWAS761249 (human)		6e-18	electrocardiography		8	105335669	105335670	Human
407222878	GWAS871854_H	COVID-19 QTL GWAS871854 (human)		0.000005	COVID-19		8	105578623	105578624	Human
406969948	GWAS618924_H	protein measurement QTL GWAS618924 (human)		2e-12	protein measurement		8	105561296	105561297	Human
406892130	GWAS541106_H	vascular endothelial growth factor measurement QTL GWAS541106 (human)		4e-55	vascular endothelial growth factor measurement	blood vascular endothelial growth factor A level (CMO:0003051)	8	105569300	105569301	Human
407169646	GWAS818622_H	breast milk measurement QTL GWAS818622 (human)		2e-10	breast milk measurement	milk measurement (CMO:0000787)	8	105527460	105527461	Human
407309932	GWAS958908_H	triglyceride measurement QTL GWAS958908 (human)		1e-08	triglyceride measurement	blood triglyceride level (CMO:0000118)	8	105402860	105402861	Human
406888043	GWAS537019_H	blood protein measurement QTL GWAS537019 (human)		1e-30	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406938221	GWAS587197_H	tumor necrosis factor receptor superfamily member EDAR measurement QTL GWAS587197 (human)		2e-12	tumor necrosis factor receptor superfamily member EDAR measurement		8	105569300	105569301	Human
406888045	GWAS537021_H	blood protein measurement QTL GWAS537021 (human)		2e-42	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888047	GWAS537023_H	blood protein measurement QTL GWAS537023 (human)		4e-100	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406938222	GWAS587198_H	UDP-glucuronosyltransferase 2A1 measurement QTL GWAS587198 (human)		2e-14	probable carboxypeptidase X1 measurement	platelet measurement (CMO:0000921)	8	105569300	105569301	Human
406888048	GWAS537024_H	blood protein measurement QTL GWAS537024 (human)		1e-194	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888050	GWAS537026_H	blood protein measurement QTL GWAS537026 (human)		8e-245	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888051	GWAS537027_H	blood protein measurement QTL GWAS537027 (human)		8e-231	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888052	GWAS537028_H	blood protein measurement QTL GWAS537028 (human)		1e-97	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406938229	GWAS587205_H	synaptotagmin-11 measurement QTL GWAS587205 (human)		4e-12	neuron-specific protein family member 2 measurement		8	105569300	105569301	Human
406888055	GWAS537031_H	blood protein measurement QTL GWAS537031 (human)		3e-75	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888056	GWAS537032_H	blood protein measurement QTL GWAS537032 (human)		2e-477	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888057	GWAS537033_H	blood protein measurement QTL GWAS537033 (human)		3e-81	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888060	GWAS537036_H	blood protein measurement QTL GWAS537036 (human)		2e-604	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888061	GWAS537037_H	blood protein measurement QTL GWAS537037 (human)		4e-76	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888063	GWAS537039_H	blood protein measurement QTL GWAS537039 (human)		1e-75	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407106051	GWAS755027_H	electrocardiography QTL GWAS755027 (human)		5e-17	electrocardiography		8	105335669	105335670	Human
407106050	GWAS755026_H	electrocardiography QTL GWAS755026 (human)		5e-18	electrocardiography		8	105335669	105335670	Human
407250439	GWAS899415_H	myocardial infarction QTL GWAS899415 (human)		0.000008	myocardial infarction		8	105542509	105542510	Human
406887937	GWAS536913_H	blood protein measurement QTL GWAS536913 (human)		3e-412	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407106049	GWAS755025_H	electrocardiography QTL GWAS755025 (human)		7e-19	electrocardiography		8	105335669	105335670	Human
407106048	GWAS755024_H	electrocardiography QTL GWAS755024 (human)		2e-19	electrocardiography		8	105335669	105335670	Human
407106055	GWAS755031_H	electrocardiography QTL GWAS755031 (human)		2e-12	electrocardiography		8	105335669	105335670	Human
406887940	GWAS536916_H	blood protein measurement QTL GWAS536916 (human)		5e-50	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407120385	GWAS769361_H	systolic blood pressure QTL GWAS769361 (human)		9e-11	systolic blood pressure	systolic blood pressure (CMO:0000004)	8	105333241	105333242	Human
407106054	GWAS755030_H	electrocardiography QTL GWAS755030 (human)		4e-14	electrocardiography		8	105335669	105335670	Human
407106053	GWAS755029_H	electrocardiography QTL GWAS755029 (human)		3e-15	electrocardiography		8	105335669	105335670	Human
406887942	GWAS536918_H	blood protein measurement QTL GWAS536918 (human)		4e-73	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407106052	GWAS755028_H	electrocardiography QTL GWAS755028 (human)		8e-16	electrocardiography		8	105335669	105335670	Human
406887943	GWAS536919_H	blood protein measurement QTL GWAS536919 (human)		4e-368	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406887945	GWAS536921_H	blood protein measurement QTL GWAS536921 (human)		5e-362	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406887954	GWAS536930_H	blood protein measurement QTL GWAS536930 (human)		2e-376	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406887955	GWAS536931_H	blood protein measurement QTL GWAS536931 (human)		3e-274	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406887956	GWAS536932_H	blood protein measurement QTL GWAS536932 (human)		2e-257	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406887957	GWAS536933_H	blood protein measurement QTL GWAS536933 (human)		6e-397	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406887958	GWAS536934_H	blood protein measurement QTL GWAS536934 (human)		9e-62	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406887959	GWAS536935_H	blood protein measurement QTL GWAS536935 (human)		6e-111	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406944290	GWAS593266_H	carbohydrate sulfotransferase 11 measurement QTL GWAS593266 (human)		6e-14	carbohydrate sulfotransferase 11 measurement		8	105569300	105569301	Human
406979105	GWAS628081_H	platelet-to-lymphocyte ratio QTL GWAS628081 (human)		1e-24	platelet-to-lymphocyte ratio		8	105570896	105570897	Human
406939174	GWAS588150_H	protein measurement QTL GWAS588150 (human)		2e-14	protein measurement		8	105561296	105561297	Human
406953514	GWAS602490_H	platelet glycoprotein 4 measurement QTL GWAS602490 (human)		1e-18	platelet glycoprotein 4 measurement		8	105570896	105570897	Human
407216682	GWAS865658_H	red blood cell density measurement QTL GWAS865658 (human)		4e-12	red blood cell density measurement		8	105566749	105566750	Human
406887998	GWAS536974_H	blood protein measurement QTL GWAS536974 (human)		5e-116	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888129	GWAS537105_H	blood protein measurement QTL GWAS537105 (human)		1e-53	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888132	GWAS537108_H	blood protein measurement QTL GWAS537108 (human)		3e-82	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406971077	GWAS620053_H	neutrophil count QTL GWAS620053 (human)		3e-23	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	8	105570896	105570897	Human
407000775	GWAS649751_H	resting heart rate, chronic obstructive pulmonary disease QTL GWAS649751 (human)		3e-11	resting heart rate, chronic obstructive pulmonary disease	heart rate (CMO:0000002)	8	105501233	105501234	Human
406888134	GWAS537110_H	blood protein measurement QTL GWAS537110 (human)		4e-102	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888135	GWAS537111_H	blood protein measurement QTL GWAS537111 (human)		4e-40	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888136	GWAS537112_H	blood protein measurement QTL GWAS537112 (human)		6e-37	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407268047	GWAS917023_H	body height QTL GWAS917023 (human)		3e-16	body height (VT:0001253)	body height (CMO:0000106)	8	105561350	105561351	Human
406888137	GWAS537113_H	blood protein measurement QTL GWAS537113 (human)		1e-50	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888138	GWAS537114_H	blood protein measurement QTL GWAS537114 (human)		3e-86	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407017167	GWAS666143_H	body height QTL GWAS666143 (human)		5e-09	body height (VT:0001253)	body height (CMO:0000106)	8	105500253	105500254	Human
406888145	GWAS537121_H	venous thromboembolism QTL GWAS537121 (human)		4e-19	venous thromboembolism		8	105570896	105570897	Human
407030485	GWAS679461_H	electrocardiography QTL GWAS679461 (human)		7e-10	electrocardiography		8	105335669	105335670	Human
407149282	GWAS798258_H	mean platelet volume QTL GWAS798258 (human)		2e-20	mean platelet volume	mean platelet volume (CMO:0001348)	8	105500253	105500254	Human
407149283	GWAS798259_H	mean platelet volume QTL GWAS798259 (human)		1e-28	mean platelet volume	mean platelet volume (CMO:0001348)	8	105578477	105578478	Human
407070444	GWAS719420_H	platelet count QTL GWAS719420 (human)		6e-18	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105570896	105570897	Human
407348982	GWAS997958_H	coronary artery disease QTL GWAS997958 (human)		1e-08	coronary artery disease		8	105552424	105552425	Human
406888178	GWAS537154_H	blood protein measurement QTL GWAS537154 (human)		8e-44	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888179	GWAS537155_H	blood protein measurement QTL GWAS537155 (human)		6e-24	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888180	GWAS537156_H	blood protein measurement QTL GWAS537156 (human)		2e-30	integrin alpha-I: beta-1 complex measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888181	GWAS537157_H	blood protein measurement QTL GWAS537157 (human)		4e-68	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888182	GWAS537158_H	blood protein measurement QTL GWAS537158 (human)		1e-40	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888183	GWAS537159_H	blood protein measurement QTL GWAS537159 (human)		1e-114	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888184	GWAS537160_H	blood protein measurement QTL GWAS537160 (human)		3e-25	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888185	GWAS537161_H	blood protein measurement QTL GWAS537161 (human)		1e-37	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406971131	GWAS620107_H	monocyte count QTL GWAS620107 (human)		2e-14	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	8	105560042	105560043	Human
406888186	GWAS537162_H	blood protein measurement QTL GWAS537162 (human)		7e-34	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888191	GWAS537167_H	blood protein measurement QTL GWAS537167 (human)		5e-22	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888068	GWAS537044_H	blood protein measurement QTL GWAS537044 (human)		2e-78	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888069	GWAS537045_H	blood protein measurement QTL GWAS537045 (human)		4e-130	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407353985	GWAS1002961_H	educational attainment QTL GWAS1002961 (human)		2e-15	educational attainment		8	105445405	105445406	Human
406888070	GWAS537046_H	blood protein measurement QTL GWAS537046 (human)		5e-99	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888071	GWAS537047_H	blood protein measurement QTL GWAS537047 (human)		5e-130	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888072	GWAS537048_H	blood protein measurement QTL GWAS537048 (human)		1e-136	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407114383	GWAS763359_H	electrocardiography QTL GWAS763359 (human)		2e-10	electrocardiography		8	105335669	105335670	Human
407118479	GWAS767455_H	platelet-derived growth factor receptor beta measurement QTL GWAS767455 (human)		1e-09	platelet-derived growth factor receptor beta measurement		8	105577019	105577020	Human
406959757	GWAS608733_H	calcium measurement QTL GWAS608733 (human)		8e-19	calcium measurement	blood calcium level (CMO:0000502)	8	105560042	105560043	Human
406887054	GWAS536030_H	interleukin 12 measurement QTL GWAS536030 (human)		0.000001	interleukin 12 measurement		8	105569300	105569301	Human
407114388	GWAS763364_H	electrocardiography QTL GWAS763364 (human)		1e-09	electrocardiography		8	105335669	105335670	Human
407114389	GWAS763365_H	electrocardiography QTL GWAS763365 (human)		1e-11	electrocardiography		8	105335669	105335670	Human
407114390	GWAS763366_H	electrocardiography QTL GWAS763366 (human)		2e-13	electrocardiography		8	105335669	105335670	Human
407114391	GWAS763367_H	electrocardiography QTL GWAS763367 (human)		5e-13	electrocardiography		8	105335669	105335670	Human
407114384	GWAS763360_H	electrocardiography QTL GWAS763360 (human)		9e-11	electrocardiography		8	105335669	105335670	Human
407114385	GWAS763361_H	electrocardiography QTL GWAS763361 (human)		1e-10	electrocardiography		8	105335669	105335670	Human
407114386	GWAS763362_H	electrocardiography QTL GWAS763362 (human)		6e-12	electrocardiography		8	105335669	105335670	Human
407114387	GWAS763363_H	electrocardiography QTL GWAS763363 (human)		3e-12	electrocardiography		8	105335669	105335670	Human
406941334	GWAS590310_H	corneodesmosin measurement QTL GWAS590310 (human)		1e-14	venous thromboembolism, plasminogen activator inhibitor 1 measurement	blood plasminogen activator inhibitor 1 level (CMO:0003034)	8	105569300	105569301	Human
406939301	GWAS588277_H	vascular endothelial growth factor A, isoform 121 measurement QTL GWAS588277 (human)		3e-41	vascular endothelial growth factor A, isoform 121 measurement		8	105569300	105569301	Human
407388845	GWAS1037821_H	basophil count QTL GWAS1037821 (human)		2e-09	basophil quantity (VT:0002607)	blood basophil count (CMO:0000034)	8	105561296	105561297	Human
406939303	GWAS588279_H	vascular endothelial growth factor A measurement QTL GWAS588279 (human)		3e-19	vascular endothelial growth factor A measurement	blood vascular endothelial growth factor A level (CMO:0003051)	8	105569300	105569301	Human
406888105	GWAS537081_H	blood protein measurement QTL GWAS537081 (human)		1e-103	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406939306	GWAS588282_H	UDP-glucuronic acid decarboxylase 1 measurement QTL GWAS588282 (human)		8e-13	UDP-glucuronic acid decarboxylase 1 measurement		8	105569300	105569301	Human
407151272	GWAS800248_H	breast carcinoma QTL GWAS800248 (human)		4e-12	breast carcinoma		8	105346392	105346393	Human
406888109	GWAS537085_H	blood protein measurement QTL GWAS537085 (human)		1e-52	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888110	GWAS537086_H	blood protein measurement QTL GWAS537086 (human)		8e-68	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888114	GWAS537090_H	blood protein measurement QTL GWAS537090 (human)		1e-83	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888115	GWAS537091_H	blood protein measurement QTL GWAS537091 (human)		9e-35	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888118	GWAS537094_H	blood protein measurement QTL GWAS537094 (human)		1e-58	cochlin measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407396030	GWAS1045006_H	pulse pressure measurement QTL GWAS1045006 (human)		0.000005	pulse pressure measurement	pulse pressure (CMO:0000292)	8	105712958	105712959	Human
406888121	GWAS537097_H	blood protein measurement QTL GWAS537097 (human)		3e-50	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407324349	GWAS973325_H	smoking initiation QTL GWAS973325 (human)		2e-14	smoking initiation		8	105390877	105390878	Human
406888123	GWAS537099_H	blood protein measurement QTL GWAS537099 (human)		2e-25	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407155384	GWAS804360_H	mean platelet volume QTL GWAS804360 (human)		2e-35	mean platelet volume	mean platelet volume (CMO:0001348)	8	105569056	105569057	Human
407396022	GWAS1044998_H	tumor necrosis factor receptor superfamily member EDAR measurement QTL GWAS1044998 (human)		2e-11	tumor necrosis factor receptor superfamily member EDAR measurement		8	105579917	105579918	Human
407106369	GWAS755345_H	electrocardiography QTL GWAS755345 (human)		2e-22	electrocardiography		8	105335669	105335670	Human
406888258	GWAS537234_H	blood protein measurement QTL GWAS537234 (human)		7e-63	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406952771	GWAS601747_H	platelet-derived growth factor D measurement QTL GWAS601747 (human)		3e-49	platelet-derived growth factor D measurement		8	105569300	105569301	Human
407106368	GWAS755344_H	electrocardiography QTL GWAS755344 (human)		3e-08	electrocardiography		8	105335669	105335670	Human
406888260	GWAS537236_H	blood protein measurement QTL GWAS537236 (human)		4e-45	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406952774	GWAS601750_H	platelet-derived growth factor D measurement QTL GWAS601750 (human)		3e-28	platelet-derived growth factor D measurement		8	105569300	105569301	Human
406888267	GWAS537243_H	blood protein measurement QTL GWAS537243 (human)		4e-92	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406974285	GWAS623261_H	vascular endothelial growth factor A measurement QTL GWAS623261 (human)		2e-22	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105570896	105570897	Human
407386949	GWAS1035925_H	hematocrit QTL GWAS1035925 (human)		4e-13	hematocrit	hematocrit (CMO:0000037)	8	105578478	105578479	Human
406888270	GWAS537246_H	blood protein measurement QTL GWAS537246 (human)		1e-74	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888271	GWAS537247_H	blood protein measurement QTL GWAS537247 (human)		3e-52	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888272	GWAS537248_H	blood protein measurement QTL GWAS537248 (human)		8e-40	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888273	GWAS537249_H	blood protein measurement QTL GWAS537249 (human)		1e-190	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407287636	GWAS936612_H	high density lipoprotein cholesterol measurement QTL GWAS936612 (human)		1e-11	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	8	105373467	105373468	Human
406888274	GWAS537250_H	blood protein measurement QTL GWAS537250 (human)		8e-37	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407152477	GWAS801453_H	platelet count QTL GWAS801453 (human)		2e-09	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105578477	105578478	Human
406923099	GWAS572075_H	matrix metalloproteinase 1 measurement QTL GWAS572075 (human)		1e-16	matrix metalloproteinase 1 measurement		8	105570896	105570897	Human
406887268	GWAS536244_H	platelet crit QTL GWAS536244 (human)		7e-40	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406945640	GWAS594616_H	tumor necrosis factor receptor superfamily member EDAR measurement QTL GWAS594616 (human)		8e-102	tumor necrosis factor receptor superfamily member EDAR measurement		8	105569300	105569301	Human
406888301	GWAS537277_H	blood protein measurement QTL GWAS537277 (human)		6e-126	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406938479	GWAS587455_H	lactate measurement QTL GWAS587455 (human)		3e-10	lactate measurement	blood lactate level (CMO:0001303)	8	105569300	105569301	Human
407141227	GWAS790203_H	coronary artery disease QTL GWAS790203 (human)		2e-08	coronary artery disease		8	105553186	105553187	Human
406909808	GWAS558784_H	smoking initiation QTL GWAS558784 (human)		8e-12	smoking initiation		8	105356118	105356119	Human
406938481	GWAS587457_H	pyruvate measurement QTL GWAS587457 (human)		8e-14	melanocortin-2 receptor accessory protein 2 measurement	blood pyruvate level (CMO:0002422)	8	105569300	105569301	Human
407163765	GWAS812741_H	platelet measurement QTL GWAS812741 (human)		3e-46	platelet measurement	platelet measurement (CMO:0000921)	8	105569300	105569301	Human
406948722	GWAS597698_H	protein measurement QTL GWAS597698 (human)		2e-76	protein measurement		8	105569300	105569301	Human
406888309	GWAS537285_H	blood protein measurement QTL GWAS537285 (human)		8e-28	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407225212	GWAS874188_H	platelet count QTL GWAS874188 (human)		9e-15	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105569300	105569301	Human
407175039	GWAS824015_H	leukocyte count QTL GWAS824015 (human)		3e-17	leukocyte quantity (VT:0000217)	white blood cell count (CMO:0000027)	8	105566749	105566750	Human
407219065	GWAS868041_H	liver fibrosis measurement QTL GWAS868041 (human)		1e-09	liver integrity trait (VT:0010547)	liver fibrotic lesion measurement (CMO:0001088)	8	105558736	105558737	Human
406888193	GWAS537169_H	blood protein measurement QTL GWAS537169 (human)		2e-28	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406891267	GWAS540243_H	advanced glycosylation end product-specific receptor, soluble measurement QTL GWAS540243 (human)		2e-14	advanced glycosylation end product-specific receptor, soluble measurement		8	105501233	105501234	Human
406888195	GWAS537171_H	blood protein measurement QTL GWAS537171 (human)		1e-31	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888198	GWAS537174_H	blood protein measurement QTL GWAS537174 (human)		7e-322	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888200	GWAS537176_H	blood protein measurement QTL GWAS537176 (human)		1e-35	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407221005	GWAS869981_H	angiopoietin-1 measurement QTL GWAS869981 (human)		1e-17	angiopoietin-1 measurement		8	105569300	105569301	Human
407221004	GWAS869980_H	amyloid-like protein 2 measurement QTL GWAS869980 (human)		2e-18	amyloid-like protein 2 measurement		8	105569300	105569301	Human
406888202	GWAS537178_H	blood protein measurement QTL GWAS537178 (human)		1e-19	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407221007	GWAS869983_H	dickkopf‐related protein 1 measurement QTL GWAS869983 (human)		8e-22	dickkopf‐related protein 1 measurement		8	105569300	105569301	Human
407221006	GWAS869982_H	cochlin measurement QTL GWAS869982 (human)		4e-29	cochlin measurement		8	105569300	105569301	Human
406888204	GWAS537180_H	blood protein measurement QTL GWAS537180 (human)		4e-42	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888205	GWAS537181_H	blood protein measurement QTL GWAS537181 (human)		2e-154	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406959888	GWAS608864_H	tumor necrosis factor receptor superfamily member EDAR measurement QTL GWAS608864 (human)		1e-24	tumor necrosis factor receptor superfamily member EDAR measurement		8	105560042	105560043	Human
407334677	GWAS983653_H	triglyceride measurement QTL GWAS983653 (human)		2e-08	triglyceride measurement	blood triglyceride level (CMO:0000118)	8	105394619	105394620	Human
407221015	GWAS869991_H	NAD-dependent protein deacylase sirtuin-5, mitochondrial measurement QTL GWAS869991 (human)		7e-15	NAD-dependent protein deacylase sirtuin-5, mitochondrial measurement		8	105569300	105569301	Human
407307025	GWAS956001_H	lymphocyte count QTL GWAS956001 (human)		3e-12	lymphocyte count	blood lymphocyte count (CMO:0000031)	8	105469877	105469878	Human
407221010	GWAS869986_H	Dickkopf-related protein 4 measurement QTL GWAS869986 (human)		6e-21	Dickkopf-related protein 4 measurement		8	105569300	105569301	Human
406971160	GWAS620136_H	neutrophil count QTL GWAS620136 (human)		8e-24	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	8	105570896	105570897	Human
407038767	GWAS687743_H	seasonal gut microbiome measurement QTL GWAS687743 (human)		0.000003	seasonal gut microbiome measurement		8	105384888	105384889	Human
406961967	GWAS610943_H	monocyte count QTL GWAS610943 (human)		4e-13	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	8	105560042	105560043	Human
406888245	GWAS537221_H	blood protein measurement QTL GWAS537221 (human)		6e-20	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406943545	GWAS592521_H	endoplasmic reticulum resident protein 44 measurement QTL GWAS592521 (human)		7e-13	endoplasmic reticulum resident protein 44 measurement		8	105578478	105578479	Human
406888249	GWAS537225_H	blood protein measurement QTL GWAS537225 (human)		3e-77	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407106367	GWAS755343_H	electrocardiography QTL GWAS755343 (human)		5e-09	electrocardiography		8	105335669	105335670	Human
406888252	GWAS537228_H	blood protein measurement QTL GWAS537228 (human)		3e-96	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407106366	GWAS755342_H	electrocardiography QTL GWAS755342 (human)		4e-10	electrocardiography		8	105335669	105335670	Human
406888253	GWAS537229_H	blood protein measurement QTL GWAS537229 (human)		1e-54	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407106365	GWAS755341_H	electrocardiography QTL GWAS755341 (human)		3e-11	electrocardiography		8	105335669	105335670	Human
406888384	GWAS537360_H	blood protein measurement QTL GWAS537360 (human)		2e-29	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888385	GWAS537361_H	blood protein measurement QTL GWAS537361 (human)		1e-389	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888386	GWAS537362_H	blood protein measurement QTL GWAS537362 (human)		2e-448	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407152582	GWAS801558_H	high density lipoprotein cholesterol measurement QTL GWAS801558 (human)		1e-08	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	8	105578456	105578457	Human
406888387	GWAS537363_H	blood protein measurement QTL GWAS537363 (human)		2e-328	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407124930	GWAS773906_H	venous thromboembolism QTL GWAS773906 (human)		2e-13	venous thromboembolism, factor VII measurement		8	105578477	105578478	Human
407419841	GWAS1068817_H	diastolic blood pressure QTL GWAS1068817 (human)		0.000003	diastolic blood pressure	diastolic blood pressure (CMO:0000005)	8	105712958	105712959	Human
406921182	GWAS570158_H	platelet count QTL GWAS570158 (human)		1e-38	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105570896	105570897	Human
406888427	GWAS537403_H	blood protein measurement QTL GWAS537403 (human)		8e-352	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406915050	GWAS564026_H	venous thromboembolism QTL GWAS564026 (human)		7e-14	venous thromboembolism		8	105578477	105578478	Human
406887404	GWAS536380_H	platelet component distribution width QTL GWAS536380 (human)		5e-122	platelet component distribution width	platelet distribution width (CMO:0001350)	8	105569300	105569301	Human
407171048	GWAS820024_H	platelet measurement QTL GWAS820024 (human)		5e-46	platelet measurement	platelet measurement (CMO:0000921)	8	105569300	105569301	Human
406888429	GWAS537405_H	blood protein measurement QTL GWAS537405 (human)		1e-395	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888430	GWAS537406_H	blood protein measurement QTL GWAS537406 (human)		1e-502	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888431	GWAS537407_H	blood protein measurement QTL GWAS537407 (human)		7e-305	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888432	GWAS537408_H	blood protein measurement QTL GWAS537408 (human)		7e-256	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407308277	GWAS957253_H	triglyceride measurement QTL GWAS957253 (human)		4e-10	triglyceride measurement	blood triglyceride level (CMO:0000118)	8	105421150	105421151	Human
406888434	GWAS537410_H	blood protein measurement QTL GWAS537410 (human)		1e-264	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888435	GWAS537411_H	blood protein measurement QTL GWAS537411 (human)		1e-85	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888436	GWAS537412_H	blood protein measurement QTL GWAS537412 (human)		2e-44	protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888437	GWAS537413_H	blood protein measurement QTL GWAS537413 (human)		7e-36	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407084027	GWAS733003_H	blood protein measurement QTL GWAS733003 (human)		4e-24	blood protein measurement	blood protein measurement (CMO:0000028)	8	105502951	105502952	Human
407140229	GWAS789205_H	3-hydroxypropylmercapturic acid measurement QTL GWAS789205 (human)		0.000002	3-hydroxypropylmercapturic acid measurement		8	105443330	105443331	Human
407293829	GWAS942805_H	Uterine leiomyoma, estrogen-receptor positive breast cancer QTL GWAS942805 (human)		3e-08	Uterine leiomyoma, estrogen-receptor positive breast cancer		8	105365713	105365714	Human
407214979	GWAS863955_H	platelet count QTL GWAS863955 (human)		1e-18	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	8	105578477	105578478	Human
406970279	GWAS619255_H	advanced glycosylation end product-specific receptor, soluble measurement QTL GWAS619255 (human)		8e-32	advanced glycosylation end product-specific receptor, soluble measurement		8	105505700	105505701	Human
407397280	GWAS1046256_H	integrin alpha-I: beta-1 complex measurement QTL GWAS1046256 (human)		1e-09	integrin alpha-I: beta-1 complex measurement		8	105579917	105579918	Human
406888362	GWAS537338_H	blood protein measurement QTL GWAS537338 (human)		2e-74	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888363	GWAS537339_H	blood protein measurement QTL GWAS537339 (human)		4e-63	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888364	GWAS537340_H	blood protein measurement QTL GWAS537340 (human)		2e-27	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888365	GWAS537341_H	blood protein measurement QTL GWAS537341 (human)		6e-35	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888366	GWAS537342_H	blood protein measurement QTL GWAS537342 (human)		3e-29	protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888367	GWAS537343_H	blood protein measurement QTL GWAS537343 (human)		4e-81	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888370	GWAS537346_H	blood protein measurement QTL GWAS537346 (human)		4e-475	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
407124918	GWAS773894_H	apolipoprotein A 1 measurement QTL GWAS773894 (human)		2e-08	apolipoprotein A 1 measurement	blood apolipoprotein AI level (CMO:0000520)	8	105578623	105578624	Human
406888372	GWAS537348_H	blood protein measurement QTL GWAS537348 (human)		1e-646	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888373	GWAS537349_H	blood protein measurement QTL GWAS537349 (human)		2e-26	immature platelet measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888374	GWAS537350_H	blood protein measurement QTL GWAS537350 (human)		9e-361	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human
406888376	GWAS537352_H	blood protein measurement QTL GWAS537352 (human)		7e-229	blood protein measurement	blood protein measurement (CMO:0000028)	8	105569300	105569301	Human

Markers in Region

D8S1768

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	106,363,476 - 106,363,677	UniSTS	GRCh37
Build 36	8	106,432,652 - 106,432,853	RGD	NCBI36
Celera	8	102,550,589 - 102,550,790	RGD
Cytogenetic Map	8	q23	UniSTS
HuRef	8	101,565,138 - 101,565,345	UniSTS
Marshfield Genetic Map	8	118.15	UniSTS
Marshfield Genetic Map	8	118.15	RGD
Genethon Genetic Map	8	116.8	UniSTS
deCODE Assembly Map	8	112.64	UniSTS

D8S1703

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	106,348,865 - 106,349,016	UniSTS	GRCh37
Build 36	8	106,418,041 - 106,418,192	RGD	NCBI36
Celera	8	102,535,979 - 102,536,130	RGD
Cytogenetic Map	8	q23	UniSTS
HuRef	8	101,550,530 - 101,550,679	UniSTS
Marshfield Genetic Map	8	118.15	RGD
Marshfield Genetic Map	8	118.15	UniSTS
Genethon Genetic Map	8	116.8	UniSTS
deCODE Assembly Map	8	112.64	UniSTS
Whitehead-YAC Contig Map	8		UniSTS

RH48595

Human Assembly	Chr	Position (strand)	S

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar