ClinVar Miner

Variants studied for Tetralogy of Fallot

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
35 12 25 1 8 80

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
JAG1 6 1 5 0 5 17
NKX2-5 4 2 3 1 0 10
GATA4 4 0 4 0 1 8
TBX1 1 2 3 0 0 6
ZFPM2 3 0 2 0 1 6
MT-CO1 4 1 0 0 0 5
GATA6 3 0 1 0 0 4
LOC126860469, ZFPM2 0 0 3 0 0 3
MT-CO3 3 0 0 0 0 3
ROBO1 0 3 0 0 0 3
ACTN2 0 0 1 0 0 1
AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, SPAG11A, SPAG11B, TDRP, USP17L1, USP17L4, XKR5, ZNF596, ZNF705B, ZNF705G 1 0 0 0 0 1
BLK, C8orf74, CLDN23, CTSB, ERI1, FAM167A, FDFT1, GATA4, MFHAS1, MIR124-1, MSRA, MTMR9, NEIL2, PINX1, PPP1R3B, PRSS51, PRSS55, RP1L1, SLC35G5, SOX7, TNKS, XKR6 1 0 0 0 0 1
BMP7 0 0 0 0 1 1
CERS1, GDF1 1 0 0 0 0 1
CRELD1 0 0 1 0 0 1
EPHB4 0 1 0 0 0 1
FLNC 1 0 0 0 0 1
HEY2 1 0 0 0 0 1
IRX4 0 0 1 0 0 1
KDR 0 1 0 0 0 1
LIMS3, LIMS4, MALL, NPHP1, RGPD5, RGPD6 0 0 1 0 0 1
MT-CO2 1 0 0 0 0 1
NOTCH1 1 0 0 0 0 1
TPM1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 15 0 1 0 0 16
Molecular Biology Laboratory, University of Basrah 8 1 0 0 0 9
Baylor Genetics 3 1 4 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 6 0 0 8
Genome-Nilou Lab 0 0 0 0 6 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 4 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 1 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Cytogenetics- Mohapatra Lab, Banaras Hindu University 0 0 0 0 1 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Dept of Reproduction and Endocrinology, The Sixth Affiliated Hospital of Sun Yat-sen University 1 0 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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