ClinVar Miner

Variants in gene F9

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
173 40 45 49 36 1 1 322

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Hereditary factor IX deficiency disease 104 8 18 11 10 0 1 149
Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor IX defect 24 7 9 32 24 0 0 96
not specified 39 10 3 1 6 0 0 59
not provided 0 3 8 7 4 0 0 22
Hereditary factor VIII deficiency disease 10 10 1 0 0 0 0 21
none provided 12 2 1 1 2 0 0 18
Hemophilia B Leyden 7 0 0 0 0 0 0 7
Hemophilia B, Factor IX Deficiency 0 0 2 3 0 0 0 5
Abnormality of coagulation 1 2 1 0 0 0 0 4
FACTOR IX POLYMORPHISM 0 0 0 0 3 0 0 3
Hemophilia b(m) 2 0 0 0 0 0 0 2
Inborn genetic diseases 0 1 1 0 0 0 0 2
Thrombophilia, X-linked, due to factor IX defect 1 0 1 0 0 0 0 2
Warfarin sensitivity, x-linked 2 0 0 0 0 0 0 2
Deep venous thrombosis, protection against 0 0 0 0 0 1 0 1
FACTOR IX, DNA POLYMORPHISM 0 0 0 0 1 0 0 1
Hemophilia B Brandenburg 1 0 0 0 0 0 0 1
Reduced factor IX activity 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
OMIM 107 0 0 0 4 1 0 112
Invitae 24 7 9 35 28 0 0 103
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 51 15 6 1 4 0 0 77
Illumina Clinical Services Laboratory,Illumina 0 0 15 11 8 0 0 34
NIHR Bioresource Rare Diseases, University of Cambridge 13 13 2 0 0 0 0 26
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 13 3 0 0 0 0 0 16
Natera, Inc. 1 0 3 3 4 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 1 0 0 0 6
PreventionGenetics, PreventionGenetics 0 0 0 1 2 0 0 3
Institute of Basic Medical Sciences,Khyber Medical University, Peshawar 0 3 0 0 0 0 0 3
Ambry Genetics 0 1 1 0 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 2 0 0 2
GeneReviews 2 0 0 0 0 0 0 2
GeneDx 0 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 0 1
SNPedia 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 0 1

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