ClinVar Miner

Variants in gene PHOX2B

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Minimum submission review status: Collection method:
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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
16 4 247 115 23 2 3 394

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Haddad syndrome 3 0 154 48 0 0 0 205
Congenital central hypoventilation 9 1 74 33 23 0 0 138
Hereditary cancer-predisposing syndrome 0 0 45 39 4 0 0 88
Neuroblastoma 2 1 0 28 2 19 2 0 52
not provided 4 0 2 27 4 0 0 37
not specified 0 0 0 4 4 0 3 10
Neuroblastoma 0 0 1 2 1 0 0 4
none provided 0 0 0 1 2 0 0 3
Congenital central hypoventilation; Neuroblastoma 2 0 0 2 0 0 0 0 2
Neuroblastoma with Hirschsprung disease 2 0 0 0 0 0 0 2
Central hypoventilation syndrome, late-onset 1 0 0 0 0 0 0 1
Congenital central hypoventilation syndrome, with or without Hirschsprung disease 0 1 0 0 0 0 0 1
Craniopharyngioma 0 0 1 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: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 2 1 198 92 6 0 0 299
Ambry Genetics 0 1 45 39 4 0 0 89
Illumina Clinical Services Laboratory,Illumina 0 0 29 7 21 0 0 53
OMIM 8 0 0 0 0 2 0 10
GeneDx 1 0 0 3 2 0 0 6
PreventionGenetics, PreventionGenetics 0 0 0 2 4 0 0 6
Baylor Genetics 2 0 3 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 4 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 2 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
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 1 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 1 0 0 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 0 0 0 0 1

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