ClinVar Miner

Variants in gene TP63

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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
55 17 96 48 57 228

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
TP63-Related Spectrum Disorders 16 3 61 11 43 132
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12 2 43 7 39 103
Orofacial cleft 8 2 0 59 20 8 89
not provided 15 11 15 16 5 61
not specified 0 0 0 5 12 17
ADULT syndrome 10 0 0 0 0 10
Cleft Lip +/- Cleft Palate, Autosomal Dominant 0 0 5 2 3 10
Ectrodactyly 0 0 5 2 3 10
Rapp-Hodgkin ectodermal dysplasia syndrome 8 0 0 0 0 8
Hay-Wells syndrome of ectodermal dysplasia 3 0 0 0 0 3
Split-hand/foot malformation 4 3 0 0 0 0 3
Inborn genetic diseases 0 1 1 0 0 2
Limb-mammary syndrome 2 0 0 0 0 2
Premature ovarian insufficiency 2 0 0 0 0 2
Ankyloblepharon-ectodermal defects, cleft lip/palate 1 0 0 0 0 1
Failure to thrive; Feeding difficulties; Generalized hypotonia; Myopathic facies; Poor speech; Severe global developmental delay 0 0 1 0 0 1
Malignant tumor of prostate 0 0 1 0 0 1
Muscular dystrophy 0 0 1 0 0 1
See cases 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 64 27 42 97
Invitae 16 3 14 18 8 59
OMIM 29 0 0 0 0 29
GeneDx 14 10 3 2 0 29
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 9 1 2 14
PreventionGenetics,PreventionGenetics 0 0 0 3 10 13
GeneReviews 7 0 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 3 0 0 4
Ambry Genetics 0 1 1 0 0 2
Mendelics 0 0 1 1 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 2
Reproductive Development, Murdoch Childrens Research Institute 2 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
ISCA site 6 0 0 0 0 1 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 1
Laboratory of Human Genetics,Universidade de São Paulo 1 0 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 1
Gharavi Laboratory,Columbia University 1 0 0 0 0 1

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