ClinVar Miner

Variants studied for isolated cerebellar hypoplasia/agenesis

Included ClinVar conditions (19):
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 total
10 44 58 9 8 125

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
VLDLR 0 0 45 6 6 55
OXR1 4 1 4 0 1 9
CASK 0 6 0 0 0 6
PMM2 2 3 0 0 0 4
WDR37 0 4 0 0 0 4
LOC130001468, VLDLR 0 0 1 1 1 3
BCL11A 0 2 0 0 0 2
DDX3X 0 2 0 0 0 2
FOXP1 0 2 0 0 0 2
KIAA0586 0 2 0 0 0 2
OPHN1 0 2 0 0 0 2
RARS2 0 2 0 0 0 2
STXBP1 0 2 0 0 0 2
USH2A 0 0 2 0 0 2
​intergenic 0 0 1 0 0 1
ADGRG2, MAP3K15, PDHA1, SH3KBP1 0 0 1 0 0 1
AHDC1 0 1 0 0 0 1
ARID1A 0 1 0 0 0 1
ARID1B 0 1 0 0 0 1
ATAD3A 1 0 0 0 0 1
AUTS2 0 1 0 0 0 1
BCOR 0 0 1 0 0 1
CCDST, FLG 1 0 0 0 0 1
DKC1 0 1 0 0 0 1
DYNC1H1 0 0 0 1 0 1
FGFR1 0 1 0 0 0 1
FZD3 0 1 0 0 0 1
KCTD3 0 1 0 0 0 1
KIF4A 0 1 0 0 0 1
L1CAM 0 1 0 0 0 1
LOC130000962, OXR1 0 0 1 0 0 1
LOC130001471, VLDLR 0 0 0 1 0 1
MACF1 0 0 1 0 0 1
PLA2G6 1 0 0 0 0 1
SEMA6B 0 0 1 0 0 1
SEPSECS 0 1 0 0 0 1
SETD2 0 1 0 0 0 1
SPTAN1 0 1 0 0 0 1
TMLHE 0 1 0 0 0 1
TSEN54 1 0 0 0 0 1
TUBA1A 0 1 0 0 0 1
TUBB2A 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 46 8 7 59
University of Washington Center for Mendelian Genomics, University of Washington 0 30 2 0 0 32
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 4 4 1 0 11
NIHR Bioresource Rare Diseases, University of Cambridge 3 5 0 0 0 7
OMIM 4 0 0 0 0 4
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 0 4 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 1 0 0 3
Baylor Genetics 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 1
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre 1 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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