ClinVar Miner

Variants studied for Cerebellar ataxia

Coded as:
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 total
12 6 21 4 3 46

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SYNE1 0 0 7 3 1 11
CACNA1A 2 0 2 0 0 4
ESR1, SYNE1 0 0 2 0 1 3
CACNA1G 0 0 2 0 0 2
GRM1 1 0 1 0 0 2
LOC126859836, SYNE1 0 0 1 1 0 2
PMM2 0 2 0 0 0 2
ADORA2A, C22orf15, CABIN1, CHCHD10, DDT, DDTL, DERL3, DRICH1, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GUCD1, IGLL1, LRRC75B, MIF, MMP11, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SUSD2, UPB1, VPREB3, ZNF70 0 0 1 0 0 1
ATM 1 0 0 0 0 1
CAPRIN1 0 0 1 0 0 1
COQ8A 0 1 0 0 0 1
CSMD1, LOC105377785 1 0 0 0 0 1
FGF14 1 0 0 0 0 1
GACAT2, MTCL1 0 0 0 0 1 1
GJB1 0 0 1 0 0 1
ITPR1 0 0 1 0 0 1
KIF1C 1 0 0 0 0 1
LOC126806462, SATB2 1 0 0 0 0 1
MFN2 0 1 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 0 1
MTCL1 1 0 0 0 0 1
PMPCA 0 0 1 0 0 1
PRKCG 0 1 0 0 0 1
SETX 1 0 0 0 0 1
SPTBN2 0 1 0 0 0 1
TDP2 1 0 0 0 0 1
VPS39 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 10 4 2 16
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 5 0 0 6
Institute of Human Genetics, University of Wuerzburg 0 2 2 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 2 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 2 0 1 0 0 3
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 2
Baylor Genetics 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Neurogenetics Research; Murdoch Childrens Research Institute 1 0 0 0 0 1
Department Of Medical Genetics, Faculty Of Medicine, Ege University 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 0 1 0 0 0 1
Molecular Medicine, University of Pavia 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1

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