ClinVar Miner

Variants studied for Prader-Willi syndrome

Included ClinVar conditions (7):
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 not provided total
33 20 86 7 1 5 149

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MAGEL2 24 20 70 3 1 5 120
HERC2 1 0 8 2 0 0 11
NDN 0 0 4 0 0 0 4
SIM1 0 0 4 0 0 0 4
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 2 0 0 0 0 0 2
ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 2 0 0 0 0 0 2
NPAP1 0 0 0 2 0 0 2
APBA2, ARHGAP11A, ARHGAP11B, ATP10A, CHRFAM7A, CHRNA7, CYFIP1, ENTREP2, FAN1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8N, GOLGA8O, HERC2, IPW, KLF13, MAGEL2, MIR211, MKRN3, MTMR10, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, OR4M2, OR4N4, OTUD7A, POTEB, POTEB2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TRPM1, TUBGCP5, UBE3A 1 0 0 0 0 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 0 1
SNHG14, SNRPN, SNURF 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Revvity Omics, Revvity 2 2 32 0 0 0 36
Baylor Genetics 9 0 10 0 0 0 19
Fulgent Genetics, Fulgent Genetics 1 0 9 7 0 0 17
New York Genome Center 0 1 13 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 9 0 1 0 12
OMIM 10 0 0 0 0 0 10
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 6 0 0 0 0 8
Illumina Laboratory Services, Illumina 0 0 6 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 1 0 0 0 5
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences 4 0 0 0 0 0 4
3billion 2 2 0 0 0 0 4
Mendelics 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
MGZ Medical Genetics Center 1 0 1 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Medical Genetics, Keio University School of Medicine 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1

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