ClinVar Miner

Variants studied for atypical juvenile parkinsonism

Included ClinVar conditions (4):
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
39 14 723 609 71 10 1452

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SYNJ1 29 11 631 540 44 1 1251
DNAJC6 9 3 87 69 27 9 195
CFAP298, SYNJ1 0 0 2 0 0 0 2
ATP5PO, C21orf62, CFAP298, CLIC6, CRYZL1, DNAJC28, DONSON, EVA1C, GART, HUNK, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE1, KCNE2, MIS18A, MRAP, MRPS6, OLIG1, OLIG2, PAXBP1, RCAN1, RUNX1, SCAF4, SLC5A3, SMIM11, SOD1, SON, SYNJ1, TCP10L, TIAM1, TMEM50B, URB1 0 0 1 0 0 0 1
CFAP298, CFAP298-TCP10L, LOC125418061, LOC130066544, LOC130066545, SYNJ1 0 0 1 0 0 0 1
POLG, POLGARF 0 0 1 0 0 0 1
SPG11 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 30 9 718 606 69 0 1432
Genome-Nilou Lab 1 0 13 5 17 0 36
GeneReviews 0 0 0 0 0 9 9
OMIM 7 0 0 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 0 3 0 0 3
Institute for Human Genetics, University Medical Center Freiburg 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
ICM, Inserm 0 1 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1

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