Variants studied for childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
28	13	108	89	4	236

Gene and significance breakdown #

Total genes and gene combinations: 2

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
TPK1	27	13	106	89	4	233
NOBOX, TPK1	1	0	2	0	0	3

Submitter and significance breakdown #

Total submitters: 14

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	21	7	104	88	4	224
OMIM	8	0	0	0	0	8
Revvity Omics, Revvity	0	0	4	0	0	4
Fulgent Genetics, Fulgent Genetics	1	1	1	1	0	4
Baylor Genetics	2	0	1	0	0	3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	1	1	0	0	0	2
Laboratory of Metabolic Disorders, Peking University First Hospital	2	0	0	0	0	2
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University	0	2	0	0	0	2
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	0	1	0	0	1
Breda Genetics srl	1	0	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	1
Department of Human Genetics, Hannover Medical School	0	1	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.