ClinVar Miner

Variants studied for Tetralogy of Fallot

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
32 10 21 0 8 70

Gene and significance breakdown #

Total genes and gene combinations: 23
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
JAG1 4 1 5 5 15
GATA4 4 0 3 1 7
NKX2-5 4 1 1 0 6
ZFPM2 3 0 2 1 6
MT-CO1 4 1 0 0 5
TBX1 1 2 2 0 5
GATA6 3 0 1 0 4
LOC126860469, ZFPM2 0 0 3 0 3
MT-CO3 3 0 0 0 3
ROBO1 0 3 0 0 3
ACTN2 0 0 1 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 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 1
BMP7 0 0 0 1 1
CERS1, GDF1 1 0 0 0 1
CRELD1 0 0 1 0 1
EPHB4 0 1 0 0 1
FLNC 1 0 0 0 1
IRX4 0 0 1 0 1
LIMS3, LIMS4, MALL, NPHP1, RGPD5, RGPD6 0 0 1 0 1
MT-CO2 1 0 0 0 1
NOTCH1 1 0 0 0 1
TPM1 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 15 0 1 0 16
Molecular Biology Laboratory, University of Basrah 8 1 0 0 9
Baylor Genetics 3 1 4 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 6 0 8
Genome-Nilou Lab 0 0 0 6 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 4 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 2
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine 1 1 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 1
Cytogenetics- Mohapatra Lab, Banaras Hindu University 0 0 0 1 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 0 1 0 0 1
Phosphorus, Inc. 0 0 1 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 1
New York Genome Center 0 0 1 0 1
Dept of Reproduction and Endocrinology, The Sixth Affiliated Hospital of Sun Yat-sen University 1 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 1 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.