ClinVar Miner

Variants in gene ATP13A2

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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 not provided total
51 31 527 467 76 3 1017

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 31 17 369 368 44 0 817
not provided 5 4 101 93 47 0 225
Inborn genetic diseases 4 2 110 77 18 0 211
Kufor-Rakeb syndrome 12 7 87 16 23 2 140
not specified 0 0 13 8 20 0 38
Autosomal recessive spastic paraplegia type 78 10 2 7 0 8 0 27
ATP13A2-related condition 1 0 4 20 1 0 26
Neurodegeneration with brain iron accumulation 2 3 0 0 0 0 5
ATP13A2-related disorders 0 0 2 0 0 0 2
See cases 0 0 2 0 0 0 2
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; Parkinsonism due to ATP13A2 deficiency 0 0 0 0 0 1 1
Spastic tetraparesis 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 13 357 367 44 0 812
Ambry Genetics 4 2 110 77 18 0 211
GeneDx 2 1 36 58 32 0 129
Illumina Laboratory Services, Illumina 0 1 80 11 21 0 113
CeGaT Center for Human Genetics Tuebingen 0 2 32 29 2 0 65
PreventionGenetics, part of Exact Sciences 1 0 4 21 14 0 40
Mayo Clinic Laboratories, Mayo Clinic 0 0 17 8 14 0 39
Fulgent Genetics, Fulgent Genetics 1 3 25 7 1 0 37
Athena Diagnostics Inc 0 1 7 1 22 0 31
Genetic Services Laboratory, University of Chicago 0 0 7 4 10 0 21
Eurofins Ntd Llc (ga) 1 0 12 2 5 0 20
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 11 9 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 6 3 2 0 16
Baylor Genetics 4 3 7 0 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 9 5 0 14
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 5 9 0 14
OMIM 13 0 0 0 0 0 13
Revvity Omics, Revvity 1 1 8 0 0 0 10
Genome-Nilou Lab 0 0 0 0 8 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 7 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
AiLife Diagnostics, AiLife Diagnostics 1 2 1 0 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 3 0 0 0 4
Mendelics 1 0 2 0 0 0 3
Undiagnosed Diseases Network, NIH 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
3billion 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 1 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 0 1 0 0 0 1

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