ClinVar Miner

Variants studied for autosomal recessive early-onset Parkinson disease 6

Included ClinVar conditions (2):
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 risk factor not provided total
32 7 170 99 30 3 3 316

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
PINK1 31 7 158 94 20 1 3 288
MIR6084, PINK1 1 0 11 4 1 0 0 16
DDOST, PINK1 0 0 0 1 9 0 0 9
AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALPL, C1QA, C1QB, C1QC, CAMK2N1, CAPZB, CDA, CDC42, CELA3A, CELA3B, DDOST, ECE1, EIF4G3, EMC1, EPHA8, FAM43B, HP1BP3, HSPG2, HTR6, IFFO2, KIF17, LDLRAD2, MICOS10, MICOS10-NBL1, MRTO4, MUL1, NBL1, NBPF3, OTUD3, PINK1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, RAP1GAP, RNF186, SH2D5, SLC66A1, TMCO4, UBR4, UBXN10, USP48, VWA5B1, WNT4, ZBTB40 0 0 1 0 0 0 0 1
MT-ND5 0 0 0 0 0 1 0 1
MT-ND6 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 22 5 107 91 22 0 0 247
Illumina Laboratory Services, Illumina 1 0 62 7 15 0 0 85
Fulgent Genetics, Fulgent Genetics 1 0 22 5 2 0 0 30
OMIM 12 0 0 0 0 3 0 15
Baylor Genetics 1 0 3 0 0 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 0 0 3
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 0 2
GeneReviews 0 0 0 0 0 0 2 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 0 1
Centre for Genetic Disorders, Banaras Hindu University 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 1 0 0 0 0 1

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