Advanced Search (OLGA)

Gene: F8 (coagulation factor VIII) Homo sapiens

Analyze

Symbol:

Name:

coagulation factor VIII

RGD ID:

1343567

HGNC Page

HGNC:3546

Description:

Predicted to enable copper ion binding activity and oxidoreductase activity. Predicted to be involved in blood coagulation, intrinsic pathway. Predicted to be located in several cellular components, including Golgi lumen; cytoplasmic vesicle; and endoplasmic reticulum-Golgi intermediate compartment membrane. Predicted to be active in extracellular space. Implicated in factor VIII deficiency. Biomarker of type 2 diabetes mellitus and von Willebrand's disease 2.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

AHF; antihemophilic factor; coagulation factor VIII A1 domain; coagulation factor VIII C2 domain; coagulation factor VIII, procoagulant component; coagulation factor VIIIc; DXS1253E; F8B; F8C; factor VIII F8B; FVIII; HEMA; THPH13

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	F8 (coagulation factor VIII)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	F8 (coagulation factor VIII)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	F8 (coagulation factor VIII)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	F8 (coagulation factor VIII)	NCBI	Ortholog
Canis lupus familiaris (dog):	F8 (coagulation factor VIII)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	F8 (coagulation factor VIII)	NCBI	Ortholog
Sus scrofa (pig):	F8 (coagulation factor VIII)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	F8 (coagulation factor VIII)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	F8 (coagulation factor VIII)	NCBI	Ortholog
Other homologs ²
Sus scrofa (pig):	MPP1 (MAGUK p55 scaffold protein 1)	HGNC	Ensembl, Treefam
Rattus norvegicus (Norway rat):	Pfdn4 (prefoldin subunit 4)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	F8 (coagulation factor VIII)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	F8 (coagulation factor VIII)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	f8 (coagulation factor VIII, procoagulant component)	Alliance	DIOPT (InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	f8	Alliance	DIOPT (OrthoFinder\|PANTHER)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	154,835,792 - 155,022,723 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	154,835,788 - 155,026,940 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	154,064,067 - 154,250,998 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	153,717,260 - 153,904,192 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	153,627,773 - 153,678,176	NCBI
Celera	X	154,222,608 - 154,409,733 (-)	NCBI		Celera
Cytogenetic Map	X	q28	NCBI
HuRef	X	142,607,715 - 142,796,096 (-)	NCBI		HuRef
CHM1_1	X	153,975,773 - 154,162,623 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	153,072,193 - 153,259,125 (-)	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

adrenoleukodystrophy (IAGP)

aortic disease (IAGP)

autistic disorder (IAGP)

autoimmune disease (EXP)

autosomal hemophilia A (IAGP)

Bardet-Biedl syndrome 2 (IAGP)

Barth syndrome (IAGP)

blood coagulation disease (IAGP)

cerebral creatine deficiency syndrome 1 (IAGP)

cerebral palsy (IAGP)

COVID-19 (EXP)

dyskeratosis congenita (IAGP)

Emery-Dreifuss muscular dystrophy (IAGP)

Endotoxemia (ISO)

factor VIII deficiency (EXP,IAGP,IMP,ISO,ISS)

Factor VIII Deficiency, Acquired (EXP)

favism (IAGP)

genetic disease (IAGP)

hemarthrosis (ISO)

hemophilia B (IAGP)

Hemophilic Arthropathy (ISO)

Hemorrhage (IAGP,IDA)

hemorrhagic disease (IAGP)

Hemorrhagic Shock (ISO)

hyperhomocysteinemia (ISO)

immunodeficiency 33 (IAGP)

microcephaly (IAGP)

paraplegia (IAGP)

periventricular nodular heterotopia (IAGP)

Splenomegaly (IAGP)

Stroke (IEP)

Thromboembolism (IDA)

thrombophilia (EXP)

type 2 diabetes mellitus (IEP)

Venous Thrombosis (EXP,IDA)

von Willebrand's disease 2 (IEP)

X-Linked Thrombophilia due to Factor VIII Defect (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

1,3-dinitrobenzene (ISO)

17alpha-ethynylestradiol (EXP,ISO)

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

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

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

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (EXP)

4-hydroxyphenyl retinamide (ISO)

5-fluorouracil (EXP)

5-formyltetrahydrofolic acid (EXP)

6-propyl-2-thiouracil (ISO)

6alpha-methylprednisolone (EXP)

acetamide (ISO)

aflatoxin B1 (EXP,ISO)

Aflatoxin B2 alpha (EXP)

all-trans-retinoic acid (EXP)

aluminium atom (EXP)

aluminium(0) (EXP)

amphibole asbestos (ISO)

arsenous acid (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol F (EXP,ISO)

butanal (EXP)

cadmium atom (EXP)

cadmium dichloride (ISO)

calcium atom (EXP)

calcium(0) (EXP)

cisplatin (EXP)

copper atom (EXP)

copper(0) (EXP)

cyclosporin A (EXP)

decabromodiphenyl ether (ISO)

diarsenic trioxide (EXP)

Dibutyl phosphate (EXP)

dioxygen (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

Ethyl icosapentate (ISO)

ethyl methanesulfonate (EXP)

fenvalerate (ISO)

fipronil (ISO)

formaldehyde (EXP)

fulvestrant (EXP)

furan (ISO)

genistein (ISO)

gentamycin (EXP)

gestodene (EXP)

glycine betaine (EXP)

glyphosate (ISO)

irinotecan (EXP)

levonorgestrel (EXP)

methapyrilene (EXP)

methimazole (ISO)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP)

norgestimate (EXP)

orphenadrine (ISO)

paracetamol (ISO)

phenobarbital (ISO)

quercetin (ISO)

raloxifene (EXP)

resveratrol (ISO)

SB 431542 (EXP)

sodium dodecyl sulfate (EXP)

tamoxifen (EXP,ISO)

thiram (EXP)

trichostatin A (EXP)

trimellitic anhydride (ISO)

triptonide (ISO)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

acute-phase response (IEA)

blood coagulation (IEA,TAS)

blood coagulation, intrinsic pathway (IBA,ISO)

Cellular Component

COPII-coated ER to Golgi transport vesicle (TAS)

endoplasmic reticulum lumen (TAS)

endoplasmic reticulum-Golgi intermediate compartment membrane (TAS)

extracellular region (IEA,NAS,TAS)

extracellular space (IBA,ISO)

Golgi lumen (TAS)

membrane (IEA)

plasma membrane (TAS)

platelet alpha granule lumen (TAS)

Molecular Function

copper ion binding (IEA)

metal ion binding (IEA)

oxidoreductase activity (IEA)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

acenocoumarol pharmacodynamics pathway (EXP)

alteplase pharmacodynamics pathway (EXP)

aminocaproic acid pharmacodynamics pathway (EXP)

anistreplase pharmacodynamics pathway (EXP)

aprotinin pharmacodynamics pathway (EXP)

argatroban pharmacodynamics pathway (EXP)

bivalirudin pharmacodynamics pathway (EXP)

coagulation cascade pathway (IDA,IEA,ISO,TAS)

complement system pathway (IEA)

dicoumarol pharmacodynamics pathway (EXP)

enoxaparin pharmacodynamics pathway (EXP)

fondaparinux pharmacodynamics pathway (EXP)

heparin pharmacodynamics pathway (EXP)

phenindione pharmacodynamics pathway (EXP)

reteplase pharmacodynamics pathway (EXP)

tranexamic acid pharmacodynamics pathway (EXP)

warfarin pharmacodynamics pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal bleeding (IAGP)

Abnormality of coagulation (IAGP)

Adult onset (IAGP)

Anemia (IAGP)

Arthralgia (IAGP)

Arthropathy (IAGP)

Autism (IAGP)

Autosomal dominant inheritance (IAGP)

Bleeding with minor or no trauma (IAGP)

Bruising susceptibility (IAGP)

Cartilage destruction (IAGP)

Cephalohematoma (IAGP)

Cerebral palsy (IAGP)

Decreased circulating antibody concentration (IAGP)

Deep venous thrombosis (IAGP)

Epidural hemorrhage (IAGP)

Epistaxis (IAGP)

Gastrointestinal hemorrhage (IAGP)

Gingival bleeding (IAGP)

Headache (IAGP)

Hematemesis (IAGP)

Hematuria (IAGP)

Hip contracture (IAGP)

Increased factor VIII activity (IAGP)

Intracranial hemorrhage (IAGP)

Intramuscular hematoma (IAGP)

Intraventricular hemorrhage (IAGP)

Joint hemorrhage (IAGP)

Joint swelling (IAGP)

Limb joint contracture (IAGP)

Limitation of joint mobility (IAGP)

Macroscopic hematuria (IAGP)

Melena (IAGP)

Menorrhagia (IAGP)

Microcephaly (IAGP)

Muscle hemorrhage (IAGP)

Oral cavity bleeding (IAGP)

Osteoarthritis (IAGP)

Persistent bleeding after trauma (IAGP)

Petechiae (IAGP)

Poor wound healing (IAGP)

Post-partum hemorrhage (IAGP)

Progressive joint destruction (IAGP)

Prolonged bleeding after dental extraction (IAGP)

Prolonged bleeding after surgery (IAGP)

Prolonged bleeding following circumcision (IAGP)

Prolonged bleeding following procedure (IAGP)

Prolonged partial thromboplastin time (IAGP)

Pulmonary embolism (IAGP)

Purpura (IAGP)

Reduced factor VIII activity (IAGP)

Reduced von Willebrand factor activity (IAGP)

Seizure (IAGP)

Spastic paraplegia (IAGP)

Splenomegaly (IAGP)

Spontaneous hematomas (IAGP)

Subcutaneous hemorrhage (IAGP)

Subdural hemorrhage (IAGP)

Synovitis (IAGP)

X-linked dominant inheritance (IAGP)

X-linked recessive inheritance (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Mutations of the factor VIII gene in thai hemophilia A patients.	Akkarapatumwong V, etal., Hum Mutat. 2000 Jan;15(1):117-8.
2.	Elevated levels of FVIII:C within families are associated with an increased risk for venous and arterial thrombosis.	Bank I, etal., J Thromb Haemost. 2005 Jan;3(1):79-84.
3.	WAG-F8(m1Ycb) rats harboring a factor VIII gene mutation provide a new animal model for hemophilia A.	Booth CJ, etal., J Thromb Haemost. 2010 Nov;8(11):2472-7. doi: 10.1111/j.1538-7836.2010.03978.x.
4.	Effect of factor VIIIc levels in pediatric stroke patients.	Cangoz E, etal., Pediatr Hematol Oncol. 2004 Apr-May;21(3):255-60.
5.	Folate deficiency-induced hyperhomocysteinemia attenuates, and folic acid supplementation restores, the functional activities of rat coagulation factors XII, X, and II.	Ebbesen LS and Ingerslev J, J Nutr. 2005 Aug;135(8):1836-40.
6.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
7.	Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution.	Guillet B, etal., Hum Mutat. 2006 Jul;27(7):676-85.
8.	Haemostatic abnormalities persist despite glycaemic improvement by insulin therapy in lean type 2 diabetic patients.	Knobl P, etal., Thromb Haemost. 1994 Jun;71(6):692-7.
9.	An association of candidate gene haplotypes and bleeding severity in von Willebrand disease type 2A, 2B, and 2M pedigrees.	Kunicki TJ, etal., J Thromb Haemost. 2006 Jan;4(1):137-47.
10.	A novel F8 -/- rat as a translational model of human hemophilia A.	Nielsen LN, etal., J Thromb Haemost. 2014 Aug;12(8):1274-82. doi: 10.1111/jth.12635.
11.	Effect of dienogest on bleeding time, coagulation, fibrinolysis, and platelet aggregation in female rats.	Nobukata H, etal., Toxicol Lett. 1999 Jan 11;104(1-2):93-101.
12.	Blood coagulation.	Norris LA, Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):369-83.
13.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
14.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
15.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
16.	Cleavage of factor VIII light chain is required for maximal generation of factor VIIIa activity.	Regan LM and Fay PJ, J Biol Chem. 1995 Apr 14;270(15):8546-52.
17.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
19.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
20.	The severe spontaneous bleeding phenotype in a novel hemophilia A rat model is rescued by platelet FVIII expression.	Shi Q, etal., Blood Adv. 2020 Jan 14;4(1):55-65. doi: 10.1182/bloodadvances.2019000944.
21.	How it all starts: Initiation of the clotting cascade.	Smith SA, etal., Crit Rev Biochem Mol Biol. 2015;50(4):326-36. doi: 10.3109/10409238.2015.1050550. Epub 2015 May 28.
22.	The F8(-/-) rat as a model of hemophilic arthropathy.	Sørensen KR, etal., J Thromb Haemost. 2016 Jun;14(6):1216-25. doi: 10.1111/jth.13328. Epub 2016 May 10.
23.	Long-term expression of human coagulation factor VIII and correction of hemophilia A after in vivo retroviral gene transfer in factor VIII-deficient mice.	VandenDriessche T, etal., Proc Natl Acad Sci U S A. 1999 Aug 31;96(18):10379-84.
24.	Preferential consumption of coagulation factors I, V, and VIII in rat endotoxemia.	Yamaguchi K, etal., Shock. 2000 Nov;14(5):535-43.
25.	[Study on changes of blood coagulation factors in rats with hemorrhagic shock].	Zhang YJ, etal., Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2005 Feb;13(1):110-3.

Additional References at PubMed

PMID:501196	PMID:1301194	PMID:1301932	PMID:1301960	PMID:1303178	PMID:1349567	PMID:1356412	PMID:1427887	PMID:1554716	PMID:1639429	PMID:1761551	PMID:1851341
PMID:1898735	PMID:1902642	PMID:1908096	PMID:1908817	PMID:1924291	PMID:1939075	PMID:1973901	PMID:2104766	PMID:2105106	PMID:2105906	PMID:2106480	PMID:2107542
PMID:2110473	PMID:2491949	PMID:2495245	PMID:2498882	PMID:2499363	PMID:2506948	PMID:2510835	PMID:2565080	PMID:2833855	PMID:2835904	PMID:2896159	PMID:2987704
PMID:3012775	PMID:3013509	PMID:3122181	PMID:3134349	PMID:3935400	PMID:6438526	PMID:6438528	PMID:7579394	PMID:7613471	PMID:7620160	PMID:7728145	PMID:7756647
PMID:7759074	PMID:7794769	PMID:7893714	PMID:8275087	PMID:8322269	PMID:8449505	PMID:8562925	PMID:8626656	PMID:8639447	PMID:8644728	PMID:8698347	PMID:8759905
PMID:9029040	PMID:9218428	PMID:9305856	PMID:9326186	PMID:9341862	PMID:9450898	PMID:9525969	PMID:9569180	PMID:9569189	PMID:9603440	PMID:9759621	PMID:9792405
PMID:9829908	PMID:9834200	PMID:9886318	PMID:10338101	PMID:10350471	PMID:10404764	PMID:10521497	PMID:10554831	PMID:10691849	PMID:10800171	PMID:10886198	PMID:10896236
PMID:10910910	PMID:10910913	PMID:11027931	PMID:11057857	PMID:11091190	PMID:11122386	PMID:11128113	PMID:11278963	PMID:11298607	PMID:11341489	PMID:11391716	PMID:11396323
PMID:11410838	PMID:11442643	PMID:11442647	PMID:11554935	PMID:11574539	PMID:11673296	PMID:11722428	PMID:11737010	PMID:11739969	PMID:11748850	PMID:11769673	PMID:11776297
PMID:11799130	PMID:11830468	PMID:11848448	PMID:11848452	PMID:11857744	PMID:11858487	PMID:11864712	PMID:12036878	PMID:12041568	PMID:12058364	PMID:12091341	PMID:12154809
PMID:12195713	PMID:12199686	PMID:12201837	PMID:12203998	PMID:12204009	PMID:12220193	PMID:12325022	PMID:12351418	PMID:12358922	PMID:12368162	PMID:12406074	PMID:12412575
PMID:12426309	PMID:12428094	PMID:12477932	PMID:12522143	PMID:12567191	PMID:12574801	PMID:12578706	PMID:12614369	PMID:12615788	PMID:12617176	PMID:12717434	PMID:12719774
PMID:12719775	PMID:12768323	PMID:12857556	PMID:12871415	PMID:12871600	PMID:12930394	PMID:12958606	PMID:12969981	PMID:14517489	PMID:14521595	PMID:14629468	PMID:14629470
PMID:14644079	PMID:14675089	PMID:14684146	PMID:14717992	PMID:14718574	PMID:14722121	PMID:14764590	PMID:14961153	PMID:15073030	PMID:15213843	PMID:15236327	PMID:15304045
PMID:15353485	PMID:15456493	PMID:15459008	PMID:15471879	PMID:15550021	PMID:15660987	PMID:15670040	PMID:15682412	PMID:15705787	PMID:15710596	PMID:15735794	PMID:15735796
PMID:15810915	PMID:15824541	PMID:15869621	PMID:15886209	PMID:15913649	PMID:15921397	PMID:15946216	PMID:15996947	PMID:16020776	PMID:16038719	PMID:16042406	PMID:16086318
PMID:16088320	PMID:16102111	PMID:16128892	PMID:16270627	PMID:16335952	PMID:16339403	PMID:16380445	PMID:16487577	PMID:16513639	PMID:16569771	PMID:16601827	PMID:16601852
PMID:16628729	PMID:16732372	PMID:16769589	PMID:16805874	PMID:16823491	PMID:16839343	PMID:16894461	PMID:16894464	PMID:16953269	PMID:16953272	PMID:16956829	PMID:17116206
PMID:17119108	PMID:17209060	PMID:17287628	PMID:17334514	PMID:17342157	PMID:17349154	PMID:17445092	PMID:17498081	PMID:17498085	PMID:17502612	PMID:17610549	PMID:17636198
PMID:17649711	PMID:17650078	PMID:17680530	PMID:17786534	PMID:17823971	PMID:17846507	PMID:17848617	PMID:17849066	PMID:17890957	PMID:17916745	PMID:17927806	PMID:17944985
PMID:17958741	PMID:17958750	PMID:17973851	PMID:18000608	PMID:18000609	PMID:18024377	PMID:18034822	PMID:18064310	PMID:18160577	PMID:18162457	PMID:18166789	PMID:18179574
PMID:18184865	PMID:18217133	PMID:18217134	PMID:18217193	PMID:18277139	PMID:18292408	PMID:18299331	PMID:18327416	PMID:18337255	PMID:18371163	PMID:18371166	PMID:18387975
PMID:18388497	PMID:18388498	PMID:18400180	PMID:18403393	PMID:18419741	PMID:18424440	PMID:18435924	PMID:18457169	PMID:18459951	PMID:18479430	PMID:18481121	PMID:18492805
PMID:18495957	PMID:18503540	PMID:18515885	PMID:18521513	PMID:18535282	PMID:18549909	PMID:18600086	PMID:18612535	PMID:18634839	PMID:18647227	PMID:18685438	PMID:18702107
PMID:18752533	PMID:18752578	PMID:18803625	PMID:18808737	PMID:18983499	PMID:18983511	PMID:19047063	PMID:19080683	PMID:19110358	PMID:19126539	PMID:19132238	PMID:19150994
PMID:19187187	PMID:19240027	PMID:19304336	PMID:19329212	PMID:19336741	PMID:19350126	PMID:19369668	PMID:19404520	PMID:19404535	PMID:19473408	PMID:19473423	PMID:19548904
PMID:19563499	PMID:19595998	PMID:19624762	PMID:19642360	PMID:19687511	PMID:19715469	PMID:19719548	PMID:19740093	PMID:19765210	PMID:19778283	PMID:19778945	PMID:19811836
PMID:19817879	PMID:19825912	PMID:19874476	PMID:19913121	PMID:20007547	PMID:20015216	PMID:20028422	PMID:20050928	PMID:20054547	PMID:20062922	PMID:20089867	PMID:20153025
PMID:20174619	PMID:20184747	PMID:20193250	PMID:20231535	PMID:20236351	PMID:20237496	PMID:20301578	PMID:20351306	PMID:20438774	PMID:20456758	PMID:20460344	PMID:20492463
PMID:20528906	PMID:20586921	PMID:20589311	PMID:20605782	PMID:20606161	PMID:20609463	PMID:20627205	PMID:20628086	PMID:20664893	PMID:20682599	PMID:20705334	PMID:20735721
PMID:20735723	PMID:20737444	PMID:20800587	PMID:21029358	PMID:21041718	PMID:21044367	PMID:21052611	PMID:21057709	PMID:21070499	PMID:21071930	PMID:21072517	PMID:21092465
PMID:21094987	PMID:21103668	PMID:21143378	PMID:21156843	PMID:21188793	PMID:21210768	PMID:21217077	PMID:21245142	PMID:21305775	PMID:21371196	PMID:21371201	PMID:21462120
PMID:21470668	PMID:21498909	PMID:21585650	PMID:21605333	PMID:21606503	PMID:21645180	PMID:21645226	PMID:21668738	PMID:21682900	PMID:21689372	PMID:21705497	PMID:21751985
PMID:21774968	PMID:21810271	PMID:21849206	PMID:21873635	PMID:21901233	PMID:21909423	PMID:21940821	PMID:21947241	PMID:21953409	PMID:21988832	PMID:21992898	PMID:22032085
PMID:22032801	PMID:22057150	PMID:22057218	PMID:22057311	PMID:22103590	PMID:22117735	PMID:22136525	PMID:22173226	PMID:22189067	PMID:22219226	PMID:22224589	PMID:22234396
PMID:22270795	PMID:22282501	PMID:22401796	PMID:22411993	PMID:22422337	PMID:22466813	PMID:22471307	PMID:22559004	PMID:22613792	PMID:22621702	PMID:22655063	PMID:22776136
PMID:22808956	PMID:22854959	PMID:22883072	PMID:22906111	PMID:22958177	PMID:22958194	PMID:23058466	PMID:23088352	PMID:23111982	PMID:23140572	PMID:23168412	PMID:23178924
PMID:23205847	PMID:23224054	PMID:23238545	PMID:23243272	PMID:23262994	PMID:23299923	PMID:23306409	PMID:23348756	PMID:23348798	PMID:23349389	PMID:23349392	PMID:23372167
PMID:23403259	PMID:23417672	PMID:23446634	PMID:23480827	PMID:23482934	PMID:23526393	PMID:23534532	PMID:23551875	PMID:23555096	PMID:23580639	PMID:23636243	PMID:23636463
PMID:23682841	PMID:23690449	PMID:23696725	PMID:23709226	PMID:23754288	PMID:23809411	PMID:23852824	PMID:23867815	PMID:23884417	PMID:23926300	PMID:23963097	PMID:24009077
PMID:24030831	PMID:24085769	PMID:24108539	PMID:24118514	PMID:24167566	PMID:24170271	PMID:24170290	PMID:24211824	PMID:24270469	PMID:24275667	PMID:24296544	PMID:24317041
PMID:24344794	PMID:24497117	PMID:24553346	PMID:24560376	PMID:24578500	PMID:24599523	PMID:24602271	PMID:24668665	PMID:24696066	PMID:24700780	PMID:24702151	PMID:24814520
PMID:24824129	PMID:24845853	PMID:24927536	PMID:24934295	PMID:25105915	PMID:25157807	PMID:25241761	PMID:25265377	PMID:25315236	PMID:25354263	PMID:25354705	PMID:25382774
PMID:25406352	PMID:25503412	PMID:25520269	PMID:25550078	PMID:25575413	PMID:25592075	PMID:25603934	PMID:25605439	PMID:25611311	PMID:25617427	PMID:25628142	PMID:25652415
PMID:25665657	PMID:25669199	PMID:25779970	PMID:25780857	PMID:25824987	PMID:25854144	PMID:25903134	PMID:25948085	PMID:25963793	PMID:26001809	PMID:26057490	PMID:26157780
PMID:26246214	PMID:26264493	PMID:26270389	PMID:26278069	PMID:26345748	PMID:26346528	PMID:26383047	PMID:26453193	PMID:26473492	PMID:26489971	PMID:26525229	PMID:26544073
PMID:26598467	PMID:26599105	PMID:26635035	PMID:26653368	PMID:26743572	PMID:26897466	PMID:26915717	PMID:27013611	PMID:27207787	PMID:27292088	PMID:27337956	PMID:27433848
PMID:27455009	PMID:27525858	PMID:27584569	PMID:27587878	PMID:27629384	PMID:27734074	PMID:27749002	PMID:27758819	PMID:27794518	PMID:27824209	PMID:27824213	PMID:27984605
PMID:28056565	PMID:28057741	PMID:28139814	PMID:28252515	PMID:28327546	PMID:28431990	PMID:28432221	PMID:28488800	PMID:28492696	PMID:28492697	PMID:28507083	PMID:28558995
PMID:28683085	PMID:28729433	PMID:28777843	PMID:28799202	PMID:28894750	PMID:29170251	PMID:29357978	PMID:29399993	PMID:29444815	PMID:29534251	PMID:29544691	PMID:29577605
PMID:29614522	PMID:29656491	PMID:29890521	PMID:29938987	PMID:30021884	PMID:30111575	PMID:30471183	PMID:30642920	PMID:30783064	PMID:30901531	PMID:30997536	PMID:31003771
PMID:31063249	PMID:31134694	PMID:31675465	PMID:31985870	PMID:31989767	PMID:32032127	PMID:32189311	PMID:32248973	PMID:32453842	PMID:32544272	PMID:32558078	PMID:32589464
PMID:32678887	PMID:32767930	PMID:32791533	PMID:32814053	PMID:32928254	PMID:32935414	PMID:33082527	PMID:33144078	PMID:33196677	PMID:33221577	PMID:33245802	PMID:33254277
PMID:33275657	PMID:33342086	PMID:33342805	PMID:33512707	PMID:33592631	PMID:33705963	PMID:33715149	PMID:34135429	PMID:34177966	PMID:34316702	PMID:34349018	PMID:34349063
PMID:34393174	PMID:34590394	PMID:34662354	PMID:34724570	PMID:34778454	PMID:34847278	PMID:35054807	PMID:35367915	PMID:35671883	PMID:35924581	PMID:35950488	PMID:36208262
PMID:36240294	PMID:36305765	PMID:36322904	PMID:37726033	PMID:37925034	PMID:37962303	PMID:38317480	PMID:38320121	PMID:38334954	PMID:38631156

Genomics

Comparative Map Data

F8
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	154,835,792 - 155,022,723 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	154,835,788 - 155,026,940 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	154,064,067 - 154,250,998 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	153,717,260 - 153,904,192 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	153,627,773 - 153,678,176	NCBI
Celera	X	154,222,608 - 154,409,733 (-)	NCBI		Celera
Cytogenetic Map	X	q28	NCBI
HuRef	X	142,607,715 - 142,796,096 (-)	NCBI		HuRef
CHM1_1	X	153,975,773 - 154,162,623 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	153,072,193 - 153,259,125 (-)	NCBI		T2T-CHM13v2.0

F8
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	74,213,950 - 74,426,342 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	74,216,321 - 74,426,221 (-)	Ensembl		GRCm39 Ensembl
GRCm38	X	75,170,344 - 75,382,738 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	75,172,715 - 75,382,615 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	72,418,054 - 72,625,380 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	71,425,450 - 71,632,761 (-)	NCBI		MGSCv36	mm8
Celera	X	66,576,966 - 66,780,957 (-)	NCBI		Celera
Cytogenetic Map	X	A7.3	NCBI
cM Map	X	38.17	NCBI

F8
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	18	155,237 - 187,186 (+)	NCBI		GRCr8
mRatBN7.2	18	140,848 - 172,330 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	18	140,955 - 171,857 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	18	158,788 - 190,293 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	18	946,627 - 978,133 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	18	160,695 - 192,201 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	18	367,862 - 399,242 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	18	367,862 - 399,242 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	18	413,447 - 444,491 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	18	121,134 - 162,008 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	18	121,133 - 162,008 (+)	NCBI
Celera	18	135,235 - 166,779 (+)	NCBI		Celera
Cytogenetic Map	18	p13	NCBI

F8
(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_004955594	658,523 - 802,865 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955594	658,686 - 800,101 (+)	NCBI	ChiLan1.0	ChiLan1.0

F8
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	X	154,815,145 - 155,000,578 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	154,820,124 - 155,004,186 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	144,316,192 - 144,505,773 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	154,156,864 - 154,345,635 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	154,156,873 - 154,341,317 (-)	Ensembl	panpan1.1		panPan2

F8
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	122,894,974 - 123,046,343 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	122,885,162 - 123,043,414 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	107,890,270 - 108,036,564 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	126,024,520 - 126,170,925 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	126,011,129 - 126,170,899 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	121,771,228 - 121,918,614 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	124,294,452 - 124,441,038 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	123,987,629 - 124,161,753 (-)	NCBI		UU_Cfam_GSD_1.0

F8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	X	119,830,886 - 119,943,339 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936927	190,111 - 301,609 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936927	189,359 - 301,791 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

F8
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	125,229,450 - 125,350,853 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	125,265,330 - 125,350,853 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	143,132,160 - 143,217,828 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

F8
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	129,090,140 - 129,315,343 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	129,088,611 - 129,312,909 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666065	67,072,999 - 67,292,423 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

F8
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624963	252,943 - 424,718 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in F8
771 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000132.4(F8):c.6115+103T>C	single nucleotide variant	not provided [RCV001665024]	ChrX:154901948 [GRCh38] ChrX:154130223 [GRCh37] ChrX:Xq28	benign
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000033892]\|not provided [RCV001705639]\|not specified [RCV000251553]	ChrX:154930010 [GRCh38] ChrX:154158285 [GRCh37] ChrX:Xq28	benign
NM_000132.4(F8):c.3864A>C (p.Ser1288=)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000033893]\|not provided [RCV001705640]\|not specified [RCV000243368]	ChrX:154929926 [GRCh38] ChrX:154158201 [GRCh37] ChrX:Xq28	benign
NM_000132.4(F8):c.6769A>G (p.Met2257Val)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000033894]\|Hereditary factor VIII deficiency disease [RCV002490452]\|not provided [RCV003103720]\|not specified [RCV000249262]	ChrX:154860563 [GRCh38] ChrX:154088838 [GRCh37] ChrX:Xq28	benign
NM_000132.4(F8):c.5113C>T (p.Gln1705Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010824]	ChrX:154928677 [GRCh38] ChrX:154156952 [GRCh37] ChrX:Xq28	pathogenic
NG_011403.2:g.(80027_96047)_(99154_121150)del	deletion	Hereditary factor VIII deficiency disease [RCV000010825]	ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys)	single nucleotide variant	FACTOR VIII (EAST HARTFORD) [RCV000010827]\|Hereditary factor VIII deficiency disease [RCV000010826]\|not provided [RCV001092277]	ChrX:154928668 [GRCh38] ChrX:154156943 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010828]\|not provided [RCV002508187]	ChrX:154928694 [GRCh38] ChrX:154156969 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5183A>G (p.Tyr1728Cys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010829]	ChrX:154928607 [GRCh38] ChrX:154156882 [GRCh37] ChrX:Xq28	pathogenic
F8, EX11-18DEL	deletion	Hereditary factor VIII deficiency disease [RCV000010830]	ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5878C>T (p.Arg1960Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010831]	ChrX:154904026 [GRCh38] ChrX:154132301 [GRCh37] ChrX:Xq28	pathogenic
NG_011403.2:g.(28246_30628)_(30752_34575)del	deletion	Hereditary factor VIII deficiency disease [RCV000010832]	ChrX:Xq28	pathogenic
NC_000023.11:g.(154999601_155022409)del	deletion	FACTOR VIII POLYMORPHISM [RCV000010833]	ChrX:Xq28	benign
NG_011403.2:g.(5000_5315)_(40488_42920)del	deletion	Hereditary factor VIII deficiency disease [RCV000010834]	ChrX:Xq28	pathogenic
NC_000023.11:g.(154863228_154896077)_(155022724_?)del	deletion	Hereditary factor VIII deficiency disease [RCV000010835]	ChrX:154896077..155022724 [GRCh38] ChrX:Xq28	pathogenic
NC_000023.11:g.(?_154835791)_(154837753_?)del	deletion	Hereditary factor VIII deficiency disease [RCV000010836]	ChrX:154835791..154837753 [GRCh38] ChrX:Xq28	pathogenic
NC_000023.11:g.(154805077_154806947)_(155030999_?)del	deletion	Hereditary factor VIII deficiency disease [RCV000010837]	ChrX:154806947..155030999 [GRCh38] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1171C>T (p.Arg391Cys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010838]	ChrX:154966526 [GRCh38] ChrX:154194801 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)	single nucleotide variant	Hereditary factor IX deficiency disease [RCV000851861]\|Hereditary factor VIII deficiency disease [RCV000010839]\|not provided [RCV001169905]	ChrX:154837676 [GRCh38] ChrX:154065951 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.6554T>C (p.Leu2185Ser)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010840]	ChrX:154863103 [GRCh38] ChrX:154091378 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6404G>C (p.Arg2135Pro)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010841]	ChrX:154896102 [GRCh38] ChrX:154124377 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.566C>T (p.Ser189Leu)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010842]\|not provided [RCV003480026]	ChrX:154992971 [GRCh38] ChrX:154221246 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NG_011403.2:g.(99154_121150)_(123819_125556)del	deletion	Hereditary factor VIII deficiency disease [RCV000010843]	ChrX:Xq28	pathogenic
NM_000132.3(F8):c.2114-?_5219+?del (p.?)	deletion	Hereditary factor VIII deficiency disease [RCV000010844]	ChrX:154928571..154931676 [GRCh38] ChrX:154156846..154159951 [GRCh37] ChrX:Xq28	pathogenic
F8, EX23-25DEL	deletion	Hereditary factor VIII deficiency disease [RCV000010845]	ChrX:Xq28	pathogenic
NG_011403.2:g.(80027_96047)_(99154_121150)del	deletion	Hereditary factor VIII deficiency disease [RCV000010846]	ChrX:Xq28	pathogenic
NG_011403.2:g.(43038_58171)_(61755_66555)del	deletion	Hereditary factor VIII deficiency disease [RCV000010847]	ChrX:Xq28	pathogenic
F8, EX5DEL	deletion	Hereditary factor VIII deficiency disease [RCV000010848]	ChrX:Xq28	pathogenic
F8, EX5DEL	deletion	Hereditary factor VIII deficiency disease [RCV000010849]	ChrX:Xq28	pathogenic
Exon 5 deletion, about 2 kb	deletion	Hereditary factor VIII deficiency disease [RCV000010850]	ChrX:Xq28	pathogenic
NG_011403.2:g.(34789_40418)_(43038_58171)del	deletion	Hereditary factor VIII deficiency disease [RCV000010851]	ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1063C>T (p.Arg355Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010852]	ChrX:154966634 [GRCh38] ChrX:154194909 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5821A>G (p.Asn1941Asp)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010853]	ChrX:154904083 [GRCh38] ChrX:154132358 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.985T>C (p.Cys329Arg)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010854]	ChrX:154969355 [GRCh38] ChrX:154197630 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1033G>T (p.Val345Leu)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010855]	ChrX:154966664 [GRCh38] ChrX:154194939 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1077_1080del (p.Asn359fs)	deletion	Hereditary factor VIII deficiency disease [RCV000010856]	ChrX:154966617..154966620 [GRCh38] ChrX:154194892..154194895 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1904-736_2113+2563dup	duplication	Hereditary factor VIII deficiency disease [RCV000010857]	ChrX:154945134..154945135 [GRCh38] ChrX:154173409..154173410 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1336C>T (p.Arg446Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010858]\|Thrombophilia, X-linked, due to factor 8 defect [RCV002247316]	ChrX:154966077 [GRCh38] ChrX:154194352 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5167G>A (p.Glu1723Lys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010859]	ChrX:154928623 [GRCh38] ChrX:154156898 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6955C>T (p.Pro2319Ser)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010860]\|not provided [RCV004700214]	ChrX:154837698 [GRCh38] ChrX:154065973 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.5372T>C (p.Met1791Thr)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010861]	ChrX:154906421 [GRCh38] ChrX:154134696 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1754T>C (p.Ile585Thr)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010862]	ChrX:154954041 [GRCh38] ChrX:154182316 [GRCh37] ChrX:Xq28	pathogenic
F8, IVS22 INV	inversion	Hereditary factor VIII deficiency disease [RCV000010863]	ChrX:Xq28	pathogenic
F8, IVS6DS, A-G, +3, 186-BP DEL, EX5-6 DEL	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010864]	ChrX:Xq28	pathogenic
NM_000132.4(F8):c.43C>T (p.Arg15Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010865]\|not provided [RCV003114181]	ChrX:155022510 [GRCh38] ChrX:154250785 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.77T>G (p.Leu26Arg)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010866]	ChrX:155022476 [GRCh38] ChrX:154250751 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.89A>T (p.Glu30Val)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010867]	ChrX:155022464 [GRCh38] ChrX:154250739 [GRCh37] ChrX:Xq28	pathogenic
F8, 89-BP DEL, FS	deletion	Hereditary factor VIII deficiency disease [RCV000010868]	ChrX:Xq28	pathogenic
NM_000132.4(F8):c.121G>T (p.Gly41Cys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010869]\|Thrombophilia, X-linked, due to factor 8 defect [RCV002247317]	ChrX:155022432 [GRCh38] ChrX:154250707 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.170_179dup (p.Thr61fs)	duplication	Hereditary factor VIII deficiency disease [RCV000010870]	ChrX:154999564..154999565 [GRCh38] ChrX:154227839..154227840 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.199_200del (p.Lys67fs)	deletion	Hereditary factor VIII deficiency disease [RCV000010871]	ChrX:154999544..154999545 [GRCh38] ChrX:154227819..154227820 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer)	deletion	Hereditary factor VIII deficiency disease [RCV000010872]	ChrX:154999532..154999535 [GRCh38] ChrX:154227807..154227810 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.364_365del (p.Val122fs)	microsatellite	Hereditary factor VIII deficiency disease [RCV000010873]	ChrX:154996996..154996997 [GRCh38] ChrX:154225271..154225272 [GRCh37] ChrX:Xq28	pathogenic
F8, 23-BP DEL, FS	deletion	Hereditary factor VIII deficiency disease [RCV000010874]	ChrX:Xq28	pathogenic
NM_000132.4(F8):c.602-2A>G	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010875]	ChrX:154987307 [GRCh38] ChrX:154215582 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.266G>A (p.Gly89Asp)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010876]	ChrX:154997095 [GRCh38] ChrX:154225370 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.275G>T (p.Gly92Val)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010877]	ChrX:154997086 [GRCh38] ChrX:154225361 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.296T>A (p.Val99Asp)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010878]	ChrX:154997065 [GRCh38] ChrX:154225340 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.311T>A (p.Val104Asp)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010879]	ChrX:154997050 [GRCh38] ChrX:154225325 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.323A>C (p.Lys108Thr)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010880]\|Thrombophilia, X-linked, due to factor 8 defect [RCV002247318]\|not specified [RCV000508582]	ChrX:154997038 [GRCh38] ChrX:154225313 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.328A>G (p.Met110Val)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010881]	ChrX:154997033 [GRCh38] ChrX:154225308 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.350T>G (p.Leu117Arg)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010882]	ChrX:154997011 [GRCh38] ChrX:154225286 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.388G>C (p.Gly130Arg)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010883]	ChrX:154996973 [GRCh38] ChrX:154225248 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.396A>C (p.Glu132Asp)	single nucleotide variant	F8-related disorder [RCV003952352]\|Hemorrhage [RCV002280860]\|Hereditary factor VIII deficiency disease [RCV000010884]\|Hereditary factor VIII deficiency disease [RCV002496321]\|Thrombophilia, X-linked, due to factor 8 defect [RCV002247319]\|not provided [RCV001529373]	ChrX:154993141 [GRCh38] ChrX:154221416 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000132.4(F8):c.398A>G (p.Tyr133Cys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010885]	ChrX:154993139 [GRCh38] ChrX:154221414 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.404A>G (p.Asp135Gly)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010886]	ChrX:154993133 [GRCh38] ChrX:154221408 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.410C>T (p.Thr137Ile)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010887]	ChrX:154993127 [GRCh38] ChrX:154221402 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.491G>T (p.Gly164Val)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010888]	ChrX:154993046 [GRCh38] ChrX:154221321 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.493C>T (p.Pro165Ser)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010889]\|not provided [RCV003657257]	ChrX:154993044 [GRCh38] ChrX:154221319 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.541G>A (p.Val181Met)	single nucleotide variant	F8-related disorder [RCV003398478]\|Hereditary factor IX deficiency disease [RCV000851946]\|Hereditary factor VIII deficiency disease [RCV000010890]\|not provided [RCV001701720]	ChrX:154992996 [GRCh38] ChrX:154221271 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.554A>C (p.Lys185Thr)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010891]	ChrX:154992983 [GRCh38] ChrX:154221258 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.665A>T (p.Asp222Val)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010892]	ChrX:154987242 [GRCh38] ChrX:154215517 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.670G>T (p.Gly224Trp)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010893]	ChrX:154987237 [GRCh38] ChrX:154215512 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.688_689del (p.Glu230fs)	deletion	Hereditary factor VIII deficiency disease [RCV000010894]	ChrX:154984785..154984786 [GRCh38] ChrX:154213060..154213061 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.671-2A>G	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010895]	ChrX:154984805 [GRCh38] ChrX:154213080 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.787+3A>G	single nucleotide variant	F8-related disorder [RCV003934820]\|Hereditary factor VIII deficiency disease [RCV000010896]	ChrX:154984684 [GRCh38] ChrX:154212959 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
F8, IVS6AS, G-C, -1	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010897]	ChrX:Xq28	pathogenic
NM_000132.4(F8):c.797G>A (p.Gly266Glu)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010898]	ChrX:154969543 [GRCh38] ChrX:154197818 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.822G>A (p.Trp274Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010899]	ChrX:154969518 [GRCh38] ChrX:154197793 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.832G>A (p.Gly278Arg)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010900]	ChrX:154969508 [GRCh38] ChrX:154197783 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.849del (p.Glu284fs)	deletion	Hereditary factor VIII deficiency disease [RCV000010901]	ChrX:154969491 [GRCh38] ChrX:154197766 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.854T>G (p.Val285Gly)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010902]	ChrX:154969486 [GRCh38] ChrX:154197761 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.881C>T (p.Thr294Ile)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010903]	ChrX:154969459 [GRCh38] ChrX:154197734 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.896A>T (p.Asn299Ile)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010904]	ChrX:154969444 [GRCh38] ChrX:154197719 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.902G>A (p.Arg301His)	single nucleotide variant	F8-related disorder [RCV004745151]\|Hereditary factor VIII deficiency disease [RCV000010905]\|not provided [RCV000255290]	ChrX:154969438 [GRCh38] ChrX:154197713 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.902G>T (p.Arg301Leu)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010906]	ChrX:154969438 [GRCh38] ChrX:154197713 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.907del (p.Ala303fs)	deletion	Hereditary factor VIII deficiency disease [RCV000010907]	ChrX:154969433 [GRCh38] ChrX:154197708 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.923C>T (p.Ser308Leu)	single nucleotide variant	F8-related disorder [RCV003415685]\|Hereditary factor VIII deficiency disease [RCV000010908]	ChrX:154969417 [GRCh38] ChrX:154197692 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.935T>C (p.Phe312Ser)	single nucleotide variant	Hereditary factor IX deficiency disease [RCV000852250]\|Hereditary factor VIII deficiency disease [RCV000010909]\|not provided [RCV003656098]	ChrX:154969405 [GRCh38] ChrX:154197680 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.940A>G (p.Thr314Ala)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010910]\|not provided [RCV004566717]	ChrX:154969400 [GRCh38] ChrX:154197675 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.943del (p.Ala315fs)	deletion	Hereditary factor VIII deficiency disease [RCV000010911]	ChrX:154969397 [GRCh38] ChrX:154197672 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.980T>C (p.Leu327Pro)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010912]	ChrX:154969360 [GRCh38] ChrX:154197635 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.1026T>A (p.Tyr342Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010913]	ChrX:154966671 [GRCh38] ChrX:154194946 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.986G>A (p.Cys329Tyr)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010914]	ChrX:154969354 [GRCh38] ChrX:154197629 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.1043G>C (p.Cys348Ser)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010915]	ChrX:154966654 [GRCh38] ChrX:154194929 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1078_1079del (p.Glu360fs)	deletion	Hereditary factor VIII deficiency disease [RCV000010916]	ChrX:154966618..154966619 [GRCh38] ChrX:154194893..154194894 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1175C>A (p.Ser392Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010917]	ChrX:154966522 [GRCh38] ChrX:154194797 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1175C>T (p.Ser392Leu)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010918]\|not provided [RCV003114182]	ChrX:154966522 [GRCh38] ChrX:154194797 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.1174T>C (p.Ser392Pro)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010919]	ChrX:154966523 [GRCh38] ChrX:154194798 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1197_1198del (p.Lys399fs)	deletion	Hereditary factor VIII deficiency disease [RCV000010920]	ChrX:154966499..154966500 [GRCh38] ChrX:154194774..154194775 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1214T>G (p.Ile405Ser)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010921]	ChrX:154966483 [GRCh38] ChrX:154194758 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.1226A>G (p.Glu409Gly)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010922]	ChrX:154966471 [GRCh38] ChrX:154194746 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1293G>T (p.Leu431Phe)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010923]	ChrX:154966120 [GRCh38] ChrX:154194395 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1293del (p.Asn432fs)	deletion	Hereditary factor VIII deficiency disease [RCV000010924]	ChrX:154966120 [GRCh38] ChrX:154194395 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1331A>G (p.Lys444Arg)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010925]	ChrX:154966082 [GRCh38] ChrX:154194357 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1348T>A (p.Tyr450Asn)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010926]	ChrX:154966065 [GRCh38] ChrX:154194340 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1417T>C (p.Tyr473His)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010927]	ChrX:154965996 [GRCh38] ChrX:154194271 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1418A>G (p.Tyr473Cys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010928]	ChrX:154965995 [GRCh38] ChrX:154194270 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1481T>C (p.Ile494Thr)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010929]	ChrX:154961131 [GRCh38] ChrX:154189406 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1492G>A (p.Gly498Arg)	single nucleotide variant	Hereditary factor IX deficiency disease [RCV000851700]\|Hereditary factor VIII deficiency disease [RCV000010930]	ChrX:154961120 [GRCh38] ChrX:154189395 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1506_1516del (p.Arg503fs)	deletion	Hereditary factor VIII deficiency disease [RCV000010931]	ChrX:154961096..154961106 [GRCh38] ChrX:154189371..154189381 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1538-1G>T	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010932]	ChrX:154957172 [GRCh38] ChrX:154185447 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1630G>A (p.Asp544Asn)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010934]	ChrX:154957079 [GRCh38] ChrX:154185354 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)	single nucleotide variant	Hereditary factor IX deficiency disease [RCV000852048]\|Hereditary factor VIII deficiency disease [RCV000010935]\|not provided [RCV003103711]	ChrX:154957073 [GRCh38] ChrX:154185348 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.1648C>T (p.Arg550Cys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010936]\|Mild hemophilia A [RCV004595878]	ChrX:154957061 [GRCh38] ChrX:154185336 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1648C>G (p.Arg550Gly)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010937]\|not provided [RCV000757245]	ChrX:154957061 [GRCh38] ChrX:154185336 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.1649G>A (p.Arg550His)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010938]\|not provided [RCV003656622]	ChrX:154957060 [GRCh38] ChrX:154185335 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1660A>G (p.Ser554Gly)	single nucleotide variant	F8-related disorder [RCV003934821]\|Hereditary factor VIII deficiency disease [RCV000010939]\|not provided [RCV000727106]	ChrX:154957049 [GRCh38] ChrX:154185324 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000132.4(F8):c.1682A>G (p.Asp561Gly)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010940]	ChrX:154957027 [GRCh38] ChrX:154185302 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1726G>T (p.Glu576Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010941]	ChrX:154956983 [GRCh38] ChrX:154185258 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1730C>T (p.Ser577Phe)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010942]	ChrX:154956979 [GRCh38] ChrX:154185254 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1750C>A (p.Gln584Lys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010943]	ChrX:154956959 [GRCh38] ChrX:154185234 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1729T>C (p.Ser577Pro)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010944]	ChrX:154956980 [GRCh38] ChrX:154185255 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1804C>T (p.Arg602Ter)	single nucleotide variant	Hereditary factor IX deficiency disease [RCV000852054]\|Hereditary factor VIII deficiency disease [RCV000010945]	ChrX:154953991 [GRCh38] ChrX:154182266 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1808G>T (p.Ser603Ile)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010946]	ChrX:154953987 [GRCh38] ChrX:154182262 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1812G>C (p.Trp604Cys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010947]	ChrX:154953983 [GRCh38] ChrX:154182258 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1814A>C (p.Tyr605Ser)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010948]	ChrX:154953981 [GRCh38] ChrX:154182256 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1834C>T (p.Arg612Cys)	single nucleotide variant	Familial aortopathy [RCV004540992]\|Hereditary factor IX deficiency disease [RCV000851933]\|Hereditary factor VIII deficiency disease [RCV000010949]\|Thrombophilia, X-linked, due to factor 8 defect [RCV002247320]\|not provided [RCV000413577]	ChrX:154953961 [GRCh38] ChrX:154182236 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1892A>G (p.Asn631Ser)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010950]	ChrX:154953903 [GRCh38] ChrX:154182178 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1903+5G>A	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010951]	ChrX:154953887 [GRCh38] ChrX:154182162 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1958T>C (p.Val653Ala)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010952]	ChrX:154947853 [GRCh38] ChrX:154176128 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1957G>A (p.Val653Met)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010953]	ChrX:154947854 [GRCh38] ChrX:154176129 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1965C>G (p.Tyr655Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010954]	ChrX:154947846 [GRCh38] ChrX:154176121 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1988C>T (p.Ala663Val)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010955]	ChrX:154947823 [GRCh38] ChrX:154176098 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.2009TCT[2] (p.Phe672del)	microsatellite	Hereditary factor VIII deficiency disease [RCV000010956]	ChrX:154947794..154947796 [GRCh38] ChrX:154176069..154176071 [GRCh37] ChrX:Xq28	pathogenic\|uncertain significance
NM_000132.4(F8):c.2029T>C (p.Phe677Leu)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010957]	ChrX:154947782 [GRCh38] ChrX:154176057 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)	single nucleotide variant	Abnormality of coagulation [RCV000851590]\|Hereditary factor IX deficiency disease [RCV000851937]\|Hereditary factor VIII deficiency disease [RCV000010958]\|Hereditary factor VIII deficiency disease [RCV002490350]\|Thrombophilia, X-linked, due to factor 8 defect [RCV002247321]\|not provided [RCV002281701]	ChrX:154931641 [GRCh38] ChrX:154159916 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000132.4(F8):c.2167G>A (p.Ala723Thr)	single nucleotide variant	Hereditary factor IX deficiency disease [RCV000852072]\|Hereditary factor VIII deficiency disease [RCV000010959]\|Hereditary factor VIII deficiency disease [RCV002490351]\|not provided [RCV001560529]	ChrX:154931623 [GRCh38] ChrX:154159898 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.2215G>A (p.Glu739Lys)	single nucleotide variant	F8-related disorder [RCV004745152]\|Hereditary factor VIII deficiency disease [RCV000010960]	ChrX:154931575 [GRCh38] ChrX:154159850 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.2383A>T (p.Arg795Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010961]	ChrX:154931407 [GRCh38] ChrX:154159682 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.2962_2963del (p.Ser988fs)	microsatellite	Hereditary factor VIII deficiency disease [RCV000010963]	ChrX:154930827..154930828 [GRCh38] ChrX:154159102..154159103 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010964]\|Thrombophilia, X-linked, due to factor 8 defect [RCV002247322]\|not specified [RCV000601703]	ChrX:154930621 [GRCh38] ChrX:154158896 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000132.4(F8):c.3548_3549del (p.Lys1183fs)	deletion	Hereditary factor VIII deficiency disease [RCV000010965]	ChrX:154930241..154930242 [GRCh38] ChrX:154158516..154158517 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.3637del (p.Ile1213fs)	deletion	Hereditary factor IX deficiency disease [RCV000851976]\|Hereditary factor VIII deficiency disease [RCV000010966]\|not provided [RCV004721244]	ChrX:154930153 [GRCh38] ChrX:154158428 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.3692del (p.Pro1231fs)	deletion	Hereditary factor VIII deficiency disease [RCV000010967]	ChrX:154930098 [GRCh38] ChrX:154158373 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.4029_4030dup (p.Thr1344fs)	duplication	Hereditary factor VIII deficiency disease [RCV000010968]	ChrX:154929759..154929760 [GRCh38] ChrX:154158034..154158035 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs)	deletion	Hereditary factor VIII deficiency disease [RCV000010969]\|Hereditary factor VIII deficiency disease [RCV002490352]	ChrX:154929666..154929669 [GRCh38] ChrX:154157941..154157944 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.4242dup (p.Phe1415fs)	duplication	Hereditary factor VIII deficiency disease [RCV000010970]	ChrX:154929547..154929548 [GRCh38] ChrX:154157822..154157823 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.4296_4300del (p.His1434fs)	deletion	Hereditary factor VIII deficiency disease [RCV000010971]	ChrX:154929490..154929494 [GRCh38] ChrX:154157765..154157769 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.4328_4331del (p.Lys1443fs)	microsatellite	Hereditary factor VIII deficiency disease [RCV000010972]	ChrX:154929459..154929462 [GRCh38] ChrX:154157734..154157737 [GRCh37] ChrX:Xq28	pathogenic
F8, 1-BP INS, A	insertion	Hereditary factor VIII deficiency disease [RCV000010973]	ChrX:Xq28	pathogenic
NM_000132.4(F8):c.4379del (p.Asn1460fs)	deletion	Hereditary factor VIII deficiency disease [RCV000010974]	ChrX:154929411 [GRCh38] ChrX:154157686 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.4662_4663del (p.Trp1554_Asn1555delinsTer)	deletion	Hereditary factor VIII deficiency disease [RCV000010975]	ChrX:154929127..154929128 [GRCh38] ChrX:154157402..154157403 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.4825dup (p.Thr1609fs)	duplication	Hereditary factor VIII deficiency disease [RCV000010976]\|not provided [RCV003103984]	ChrX:154928964..154928965 [GRCh38] ChrX:154157239..154157240 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.4858del (p.Ser1619_Leu1620insTer)	deletion	Hereditary factor VIII deficiency disease [RCV000010977]	ChrX:154928932 [GRCh38] ChrX:154157207 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.4900G>T (p.Glu1634Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010978]	ChrX:154928890 [GRCh38] ChrX:154157165 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5123G>A (p.Arg1708His)	single nucleotide variant	Abnormality of coagulation [RCV000851813]\|F8-related disorder [RCV003914826]\|Hereditary factor VIII deficiency disease [RCV000010979]\|not provided [RCV001091839]	ChrX:154928667 [GRCh38] ChrX:154156942 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.5143C>T (p.Arg1715Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010980]	ChrX:154928647 [GRCh38] ChrX:154156922 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5143C>G (p.Arg1715Gly)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010981]\|not provided [RCV003114183]	ChrX:154928647 [GRCh38] ChrX:154156922 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.5220-2A>G	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010982]	ChrX:154906575 [GRCh38] ChrX:154134850 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5305G>A (p.Gly1769Arg)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010983]	ChrX:154906488 [GRCh38] ChrX:154134763 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5323T>G (p.Leu1775Val)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010984]	ChrX:154906470 [GRCh38] ChrX:154134745 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5325G>C (p.Leu1775Phe)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010985]	ChrX:154906468 [GRCh38] ChrX:154134743 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5336G>A (p.Gly1779Glu)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010986]	ChrX:154906457 [GRCh38] ChrX:154134732 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5399G>A (p.Arg1800His)	single nucleotide variant	F8-related disorder [RCV003430635]\|Hereditary factor VIII deficiency disease [RCV000010987]\|not provided [RCV001552643]	ChrX:154904998 [GRCh38] ChrX:154133273 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5398C>T (p.Arg1800Cys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010988]	ChrX:154904999 [GRCh38] ChrX:154133274 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5398C>G (p.Arg1800Gly)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010989]	ChrX:154904999 [GRCh38] ChrX:154133274 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5408C>A (p.Ser1803Tyr)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010990]	ChrX:154904989 [GRCh38] ChrX:154133264 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010991]	ChrX:154904975 [GRCh38] ChrX:154133250 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.5443C>T (p.Gln1815Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010992]	ChrX:154904954 [GRCh38] ChrX:154133229 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5526G>A (p.Met1842Ile)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010993]	ChrX:154904871 [GRCh38] ChrX:154133146 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5530C>T (p.Pro1844Ser)	single nucleotide variant	Hereditary factor IX deficiency disease [RCV000851817]\|Hereditary factor VIII deficiency disease [RCV000010994]	ChrX:154904867 [GRCh38] ChrX:154133142 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.5533A>C (p.Thr1845Pro)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010995]	ChrX:154904864 [GRCh38] ChrX:154133139 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5479A>T (p.Lys1827Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010996]	ChrX:154904918 [GRCh38] ChrX:154133193 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5558C>T (p.Ala1853Val)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010997]	ChrX:154904839 [GRCh38] ChrX:154133114 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5586G>A (p.Leu1862=)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010998]	ChrX:154904811 [GRCh38] ChrX:154133086 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5593G>A (p.Asp1865Asn)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010999]	ChrX:154904518 [GRCh38] ChrX:154132793 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5593G>T (p.Asp1865Tyr)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011000]	ChrX:154904518 [GRCh38] ChrX:154132793 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5600A>G (p.His1867Arg)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011001]\|not provided [RCV003480027]	ChrX:154904511 [GRCh38] ChrX:154132786 [GRCh37] ChrX:Xq28	pathogenic\|uncertain significance
NM_000132.4(F8):c.5618C>G (p.Pro1873Arg)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011002]	ChrX:154904493 [GRCh38] ChrX:154132768 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5677C>T (p.Gln1893Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011004]	ChrX:154904434 [GRCh38] ChrX:154132709 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5710G>A (p.Glu1904Lys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011005]	ChrX:154904401 [GRCh38] ChrX:154132676 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5822A>G (p.Asn1941Ser)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011007]	ChrX:154904082 [GRCh38] ChrX:154132357 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5879G>T (p.Arg1960Leu)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011008]	ChrX:154904025 [GRCh38] ChrX:154132300 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5882G>A (p.Trp1961Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011009]	ChrX:154904022 [GRCh38] ChrX:154132297 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5900G>A (p.Gly1967Asp)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011010]	ChrX:154904004 [GRCh38] ChrX:154132279 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5936G>T (p.Gly1979Val)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011011]	ChrX:154903968 [GRCh38] ChrX:154132243 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5938C>T (p.His1980Tyr)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011012]	ChrX:154903966 [GRCh38] ChrX:154132241 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5953C>T (p.Arg1985Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011013]	ChrX:154903951 [GRCh38] ChrX:154132226 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5961del (p.Glu1988fs)	deletion	Hereditary factor VIII deficiency disease [RCV000011014]	ChrX:154903943 [GRCh38] ChrX:154132218 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6049del (p.Val2017fs)	deletion	Hereditary factor VIII deficiency disease [RCV000011015]	ChrX:154902117 [GRCh38] ChrX:154130392 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6016G>T (p.Glu2006Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011016]	ChrX:154902150 [GRCh38] ChrX:154130425 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011017]	ChrX:154902120 [GRCh38] ChrX:154130395 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6113A>G (p.Asn2038Ser)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011018]	ChrX:154902053 [GRCh38] ChrX:154130328 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6193T>C (p.Trp2065Arg)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011019]	ChrX:154899946 [GRCh38] ChrX:154128221 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6263C>T (p.Ser2088Phe)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011020]	ChrX:154899876 [GRCh38] ChrX:154128151 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6278A>G (p.Asp2093Gly)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011021]	ChrX:154896228 [GRCh38] ChrX:154124503 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6360T>G (p.Phe2120Leu)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011022]	ChrX:154896146 [GRCh38] ChrX:154124421 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011023]\|not provided [RCV001508071]	ChrX:154896135 [GRCh38] ChrX:154124410 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.6413C>A (p.Ser2138Tyr)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011024]	ChrX:154896093 [GRCh38] ChrX:154124368 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6412_6413del (p.Ser2138fs)	deletion	Hereditary factor VIII deficiency disease [RCV000011025]	ChrX:154896093..154896094 [GRCh38] ChrX:154124368..154124369 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6464_6465del (p.Lys2155fs)	deletion	Hereditary factor VIII deficiency disease [RCV000011026]	ChrX:154863192..154863193 [GRCh38] ChrX:154091467..154091468 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011027]	ChrX:154863124 [GRCh38] ChrX:154091399 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.6506G>A (p.Arg2169His)	single nucleotide variant	Hereditary factor IX deficiency disease [RCV000851846]\|Hereditary factor VIII deficiency disease [RCV000011028]\|not provided [RCV003147281]	ChrX:154863151 [GRCh38] ChrX:154091426 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6515C>A (p.Pro2172Gln)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011029]	ChrX:154863142 [GRCh38] ChrX:154091417 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6518C>T (p.Thr2173Ile)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011030]	ChrX:154863139 [GRCh38] ChrX:154091414 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011031]\|not provided [RCV003103985]	ChrX:154863125 [GRCh38] ChrX:154091400 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6533G>A (p.Arg2178His)	single nucleotide variant	Hereditary factor IX deficiency disease [RCV000852179]\|Hereditary factor VIII deficiency disease [RCV000011032]\|not provided [RCV003114184]	ChrX:154863124 [GRCh38] ChrX:154091399 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.6545G>A (p.Arg2182His)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011033]	ChrX:154863112 [GRCh38] ChrX:154091387 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011034]\|Thrombophilia, X-linked, due to factor 8 defect [RCV002247323]	ChrX:154863113 [GRCh38] ChrX:154091388 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6631G>C (p.Ala2211Pro)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011035]	ChrX:154861810 [GRCh38] ChrX:154090085 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6670_6672del (p.Pro2224del)	deletion	Hereditary factor VIII deficiency disease [RCV000011036]	ChrX:154861769..154861771 [GRCh38] ChrX:154090044..154090046 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6683G>T (p.Arg2228Leu)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011037]	ChrX:154861758 [GRCh38] ChrX:154090033 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6682C>G (p.Arg2228Gly)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011038]	ChrX:154861759 [GRCh38] ChrX:154090034 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6699del (p.Arg2234fs)	deletion	Hereditary factor VIII deficiency disease [RCV000011039]	ChrX:154861742 [GRCh38] ChrX:154090017 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys)	single nucleotide variant	Hereditary factor IX deficiency disease [RCV000851849]\|Hereditary factor VIII deficiency disease [RCV000011040]\|not provided [RCV003114185]	ChrX:154860588 [GRCh38] ChrX:154088863 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6794A>G (p.Gln2265Arg)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011041]\|not provided [RCV001701638]	ChrX:154860538 [GRCh38] ChrX:154088813 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6794_6795del (p.Gln2265fs)	deletion	Hereditary factor VIII deficiency disease [RCV000011042]	ChrX:154860537..154860538 [GRCh38] ChrX:154088812..154088813 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6865C>T (p.Gln2289Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011043]	ChrX:154860467 [GRCh38] ChrX:154088742 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6914_6918del (p.Asn2305fs)	deletion	Hereditary factor VIII deficiency disease [RCV000011044]	ChrX:154837735..154837739 [GRCh38] ChrX:154066010..154066014 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu)	single nucleotide variant	Hereditary factor IX deficiency disease [RCV000851613]\|Hereditary factor VIII deficiency disease [RCV000011045]\|not provided [RCV001701721]	ChrX:154837697 [GRCh38] ChrX:154065972 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011046]	ChrX:154837686 [GRCh38] ChrX:154065961 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.6968G>A (p.Arg2323His)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011047]	ChrX:154837685 [GRCh38] ChrX:154065960 [GRCh37] ChrX:Xq28	pathogenic
NC_000023.11:g.(154969553_154984686)_(155022724_?)del	deletion	Hereditary factor VIII deficiency disease [RCV000011048]	ChrX:154984686..155022724 [GRCh38] ChrX:Xq28	pathogenic
NG_011403.2:g.(5315_28123)_(34789_40418)del	deletion	Hereditary factor VIII deficiency disease [RCV000011049]	ChrX:Xq28	pathogenic
NC_000023.11:g.(154986438_154987103)_(154997096_154997956)del	deletion	Hereditary factor VIII deficiency disease [RCV000011050]	ChrX:154987103..154997096 [GRCh38] ChrX:Xq28	pathogenic
NG_011403.2:g.(30752_34575)_(66650_70552)del	deletion	Hereditary factor VIII deficiency disease [RCV000011051]	ChrX:Xq28	pathogenic
NC_000023.11:g.(?_154931495)_(154989517_154990580)del	deletion	Hereditary factor VIII deficiency disease [RCV000011052]	ChrX:154931495..154989517 [GRCh38] ChrX:Xq28	pathogenic
NC_000023.11:g.(154959165_?)_(?_154963500)del	deletion	Hereditary factor VIII deficiency disease [RCV000011053]	ChrX:154959165..154963500 [GRCh38] ChrX:Xq28	pathogenic
NG_011403.2:g.(80027_96047)_(127859_131491)del	deletion	Hereditary factor VIII deficiency disease [RCV000011054]	ChrX:Xq28	pathogenic
NG_011403.2:g.(80027_96047)_(131648_164496)del	deletion	Hereditary factor VIII deficiency disease [RCV000011055]	ChrX:Xq28	pathogenic
F8, EX15-22DEL	deletion	Hereditary factor VIII deficiency disease [RCV000011056]	ChrX:Xq28	pathogenic
NC_000023.11:g.(?_154835791_(154905024_154906419)del	deletion	Hereditary factor VIII deficiency disease [RCV000011057]	ChrX:Xq28	pathogenic
NG_011403.2:g.(123429_123635)_(125674_126281)del	deletion	Hereditary factor VIII deficiency disease [RCV000011058]	ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5374-224_5453delinsT	indel	Hereditary factor VIII deficiency disease [RCV000011059]	ChrX:154904944..154905247 [GRCh38] ChrX:154133219..154133522 [GRCh37] ChrX:Xq28	pathogenic
NG_011403.2:g.(123819_125556)_(127859_131491)del	deletion	Hereditary factor VIII deficiency disease [RCV000011060]	ChrX:Xq28	pathogenic
NM_000132.4:c.6430_6723del	deletion	Hereditary factor VIII deficiency disease [RCV000011061]	ChrX:Xq28	pathogenic
F8, EX23-26DEL	deletion	Hereditary factor VIII deficiency disease [RCV000011062]	ChrX:Xq28	pathogenic
NM_000132.4(F8):c.1750del (p.Gln584fs)	deletion	Hereditary factor VIII deficiency disease [RCV000011063]	ChrX:154956959 [GRCh38] ChrX:154185234 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.592T>G (p.Cys198Gly)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011064]	ChrX:154992945 [GRCh38] ChrX:154221220 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.104A>G (p.Tyr35Cys)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000011065]	ChrX:155022449 [GRCh38] ChrX:154250724 [GRCh37] ChrX:Xq28	pathogenic
NG_011403.2:g.97660_97662delinsAluYb8	insertion	Hereditary factor VIII deficiency disease [RCV000011066]	ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010797]	ChrX:154837677 [GRCh38] ChrX:154065952 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6682C>T (p.Arg2228Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010798]\|not provided [RCV003656621]	ChrX:154861759 [GRCh38] ChrX:154090034 [GRCh37] ChrX:Xq28	pathogenic
NC_000023.11:g.(?_154835791)_(154837753_154860431)del	deletion	Hereditary factor VIII deficiency disease [RCV000010799]	ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6403C>T (p.Arg2135Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010800]\|not provided [RCV002284167]	ChrX:154896103 [GRCh38] ChrX:154124378 [GRCh37] ChrX:Xq28	pathogenic
NC_000023.11:g.(154974508_154984686)_(154984804_154986431)del	deletion	Hereditary factor VIII deficiency disease [RCV000010801]	ChrX:154984686..154984804 [GRCh38] ChrX:Xq28	pathogenic
NC_000023.11:g.(154930804_?)_(?_154933516)del	deletion	Hereditary factor VIII deficiency disease [RCV000010802]	ChrX:154930804..154933516 [GRCh38] ChrX:Xq28	pathogenic
NG_011403.2:g.(164642_165857)_(167293_189971)del	deletion	Hereditary factor VIII deficiency disease [RCV000010803]	ChrX:Xq28	pathogenic
NG_011403.2:g.(131648_164496)_(167293_189971)del	deletion	Hereditary factor VIII deficiency disease [RCV000010804]	ChrX:Xq28	pathogenic
NG_011403.2:g.(127859_131491)_(131648_164496)del	deletion	Hereditary factor VIII deficiency disease [RCV000010805]	ChrX:Xq28	pathogenic
F8, EX26DEL	deletion	Hereditary factor VIII deficiency disease [RCV000010806]	ChrX:Xq28	pathogenic
NC_000023.11:g.(?_155022409)_(155022724_?)del	deletion	Hereditary factor VIII deficiency disease [RCV000010807]	ChrX:155022409..155022724 [GRCh38] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6496C>T (p.Arg2166Ter)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010808]	ChrX:154863161 [GRCh38] ChrX:154091436 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.601+1632G>A	single nucleotide variant	F8-related disorder [RCV003407314]\|Hereditary factor VIII deficiency disease [RCV000010809]	ChrX:154991304 [GRCh38] ChrX:154219579 [GRCh37] ChrX:Xq28	pathogenic\|uncertain significance
NM_000132.4(F8):c.6683G>A (p.Arg2228Gln)	single nucleotide variant	Hereditary factor IX deficiency disease [RCV000852189]\|Hereditary factor VIII deficiency disease [RCV000010810]	ChrX:154861758 [GRCh38] ChrX:154090033 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.872A>G (p.Glu291Gly)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010811]	ChrX:154969468 [GRCh38] ChrX:154197743 [GRCh37] ChrX:Xq28	pathogenic
NG_011403.2:g.(5315_28123)_(30752_30752)del	deletion	Hereditary factor VIII deficiency disease [RCV000010812]	ChrX:Xq28	pathogenic
NG_011403.2:g.(28246_30628)_(80027_96047)del	deletion	Hereditary factor VIII deficiency disease [RCV000010813]	ChrX:Xq28	pathogenic
NG_011403.2:g.(30752_34575)_(167293_189971)del	deletion	Hereditary factor VIII deficiency disease [RCV000010814]	ChrX:Xq28	pathogenic
NG_011403.2:g.(43038_58171)_(99154_121150)del	deletion	Hereditary factor VIII deficiency disease [RCV000010815]	ChrX:Xq28	pathogenic
NG_011403.2:g.70398_70399insL170382_70398dup	insertion	FACTOR VIII POLYMORPHISM [RCV000010816]	ChrX:Xq28	benign
F8, EX26DEL	deletion	Hereditary factor VIII deficiency disease [RCV000010817]	ChrX:Xq28	pathogenic
NM_000132.4:c.3065_3066insL13054_3065dup	insertion	Hereditary factor VIII deficiency disease [RCV000010818]	ChrX:Xq28	pathogenic
F8, EX15DEL	deletion	Hereditary factor VIII deficiency disease [RCV000010819]	ChrX:Xq28	pathogenic
F8, 2-BP DEL, EX8	deletion	Hereditary factor VIII deficiency disease [RCV000010820]	ChrX:Xq28	pathogenic
NM_000132.4(F8):c.6977G>T (p.Arg2326Leu)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010821]	ChrX:154837676 [GRCh38] ChrX:154065951 [GRCh37] ChrX:Xq28	pathogenic
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)	single nucleotide variant	Hereditary factor VIII deficiency disease [RCV000010822]\|not provided [RCV000756109]	ChrX:154904025 [GRCh38] ChrX:154132300 [GRCh37] ChrX:Xq28	pathogenic\|likely pathogenic
NM_000132.4(F8):c.1172G>A (p.Arg391His)	single nucleotide variant	FACTOR VIII (OKAYAMA) [RCV000010823]\|Hereditary factor IX deficiency disease [RCV000852002]\|Hereditary factor VIII deficiency disease [RCV000757254]	ChrX:154966525 [GRCh38] ChrX:154194800 [GRCh37] ChrX:Xq28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3	copy number gain	See cases [RCV000050946]	ChrX:150036146..156022206 [GRCh38] ChrX:149298619..155251871 [GRCh37] ChrX:148955035..154905065 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [

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

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

Send us a Message