ClinVar Miner

Variants studied for Antley-Bixler syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
30 28 97 26 9 182

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FGFR2 13 3 81 23 1 119
POR 16 24 14 3 7 59
LOC126860075, POR 1 1 1 0 1 3
LOC129998680, POR 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 16 23 85 23 1 147
OMIM 13 0 0 0 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 7 1 1 11
Genome-Nilou Lab 0 0 0 0 6 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 2 0 0 4
3billion 0 1 0 1 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 1
Klinisk genetik och genomik Research, Gothenburg University 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Mendelics 0 0 0 0 1 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1

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