ClinVar Miner

Variants in gene ATP13A2

Minimum submission review status: Collection method:
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Gene type:
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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
27 9 245 118 50 2 384

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive 7 5 121 63 27 0 221
Kufor-Rakeb syndrome 12 3 88 17 21 2 136
not provided 3 1 50 50 28 0 120
History of neurodevelopmental disorder 0 1 21 22 15 0 59
not specified 0 0 5 7 16 0 25
Spastic paraplegia 78, autosomal recessive 7 1 3 0 0 0 11
Inborn genetic diseases 2 0 1 0 0 0 3
ATP13A2-related disorders 0 0 2 0 0 0 2
Neurodegeneration with brain iron accumulation 0 1 0 0 0 0 1
none provided 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 7 3 115 83 28 0 236
Illumina Clinical Services Laboratory,Illumina 0 1 83 12 21 0 117
Ambry Genetics 2 1 22 22 15 0 62
Athena Diagnostics Inc 0 1 6 2 22 0 31
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 22 8 0 0 31
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 8 14 0 25
Genetic Services Laboratory, University of Chicago 0 0 6 4 10 0 20
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 12 2 5 0 20
PreventionGenetics, PreventionGenetics 0 0 0 2 13 0 15
OMIM 13 0 0 0 0 0 13
Baylor Genetics 2 3 6 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 4 0 10
GeneDx 2 0 5 1 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
Undiagnosed Diseases Network,NIH 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Mendelics 0 0 1 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
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

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