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
40 14 726 611 71 10 1456

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 30 11 632 542 44 1 1253
DNAJC6 9 3 89 69 27 9 197
CFAP298, SYNJ1 0 0 2 0 0 0 2
ATP5PO, CFAP298, CLIC6, CRYZL1, DNAJC28, DONSON, EPCIP, 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 0 0 1 0 0 0 1
SPG11 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 31 9 720 606 69 0 1435
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
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
3billion 0 0 0 2 0 0 2
ICM, Inserm 0 1 1 0 0 0 2
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
Human Genetics Laboratory, State University of Rio de Janeiro 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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