ClinVar Miner

Variants studied for glutamate pyruvate transaminase 2 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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
10 7 18 0 0 32

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
GPT2 10 6 16 29
GPT2, LOC130058930 0 1 2 3

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 9 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 6 6
Baylor Genetics 0 0 3 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 1 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1
Revvity Omics, Revvity 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 1
3billion 0 1 0 1
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 0 1 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 1

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