ClinVar Miner

Variants in gene PHOX2B

See also:
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 risk factor not provided total
6 3 101 56 11 2 3 174

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Congenital central hypoventilation 4 1 98 48 11 0 0 161
Neuroblastoma 0 0 14 16 6 0 0 36
Hereditary cancer-predisposing syndrome 0 0 6 9 3 0 0 18
not specified 0 0 0 4 4 0 3 10
not provided 0 0 1 1 4 0 0 6
Congenital central hypoventilation; Neuroblastoma 2 0 0 2 0 0 0 0 2
Hirschsprung disease ganglioneuroblastoma 2 0 0 0 0 0 0 2
Neuroblastoma 2 0 0 0 0 0 2 0 2
Central hypoventilation syndrome, late-onset 1 0 0 0 0 0 0 1
Craniopharyngioma 0 0 1 0 0 0 0 1
Haddad syndrome 1 0 0 0 0 0 0 1
Hirschsprung disease 0 1 0 0 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1 1 83 33 6 0 0 124
Illumina Clinical Services Laboratory,Illumina 0 0 14 16 6 0 0 36
Ambry Genetics 0 1 6 9 3 0 0 19
OMIM 5 0 0 0 0 2 0 7
PreventionGenetics 0 0 0 2 4 0 0 6
GeneDx 0 0 0 3 2 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 4 0 0 4
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 4 0 0 4
ITMI 0 0 0 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 1 0 0 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 1 0 0 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 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.