ClinVar Miner

Variants in gene PTS

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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
64 56 70 124 16 274

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 61 53 54 107 7 235
not provided 7 5 8 14 12 45
PTS-related disorder 2 2 1 6 2 13
not specified 0 0 10 1 1 12
Inborn genetic diseases 0 0 7 1 0 8
GTP cyclohydrolase I deficiency with hyperphenylalaninemia 1 1 1 0 0 3
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency 3 0 0 0 0 3
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 1 0 0 0 0 1
Metabolic disease 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 53 16 21 104 6 200
Baylor Genetics 24 21 0 0 0 45
GeneDx 6 5 8 9 11 39
Counsyl 5 16 16 0 0 37
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 9 10 1 0 28
Natera, Inc. 10 3 6 3 1 23
Genome-Nilou Lab 10 6 3 2 2 23
Fulgent Genetics, Fulgent Genetics 6 13 3 0 0 22
PreventionGenetics, part of Exact Sciences 2 2 1 6 2 13
Illumina Laboratory Services, Illumina 0 0 7 2 3 12
OMIM 9 0 0 0 0 9
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 5 9
Ambry Genetics 0 0 7 1 0 8
CeGaT Center for Human Genetics Tuebingen 3 0 0 3 1 7
Juno Genomics, Hangzhou Juno Genomics, Inc 5 1 1 0 0 7
Revvity Omics, Revvity 2 3 1 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 3
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 1 1 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 2
SingHealth Duke-NUS Institute of Precision Medicine 1 0 1 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 1
Myriad Genetics, Inc. 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
3billion 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 1

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