ClinVar Miner

Variants studied for Barth syndrome

Included ClinVar conditions (2):
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
52 53 164 164 12 415

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TAFAZZIN 45 47 142 141 10 358
DNASE1L1, LOC130068869, TAFAZZIN 2 4 16 17 1 38
DNASE1L1, TAFAZZIN 3 2 5 6 1 16
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 1
G6PD 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 26 10 131 158 8 333
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 10 31 17 0 0 58
Illumina Laboratory Services, Illumina 0 0 10 6 5 21
OMIM 14 0 0 0 0 14
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 7 0 0 0 10
Revvity Omics, Revvity 1 0 4 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 1 0 0 3
Baylor Genetics 0 0 2 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 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.