ClinVar Miner

Variants studied for cobblestone lissencephaly

Included ClinVar conditions (34):
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
162 146 753 168 115 3 1311

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FKTN 12 23 143 20 11 0 197
FKRP 22 6 83 25 12 0 146
POMT1 18 6 63 18 21 0 124
POMT2 17 4 77 11 14 3 124
DAG1 4 1 71 19 9 0 104
POMGNT1, TSPAN1 7 67 23 2 0 0 94
POMGNT2 4 1 63 14 10 0 92
CRPPA 24 6 34 6 12 0 82
LARGE1 5 1 49 16 2 0 73
B3GALNT2 12 9 32 10 4 0 60
GMPPB 12 5 33 8 3 0 60
RXYLT1 9 5 23 5 7 0 46
POMK 7 0 21 11 6 0 44
B4GAT1 2 1 25 2 4 0 33
POMGNT1 0 8 2 1 0 0 11
B3GALNT2, TBCE 1 1 7 0 0 0 9
LAMB1 4 2 3 0 0 0 9
ANKMY2, BZW2, CRPPA, LRRC72, SOSTDC1 1 0 0 0 0 0 1
FKTN, FSD1L 1 0 0 0 0 0 1
FNTA, HOOK3, MIR4469, POMK, RNF170, THAP1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 80 30 599 144 108 0 961
Illumina Clinical Services Laboratory,Illumina 0 0 102 21 2 0 125
Counsyl 7 67 29 3 0 0 106
OMIM 68 0 1 0 0 0 69
Fulgent Genetics,Fulgent Genetics 7 4 33 0 0 0 44
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 36 0 0 0 0 37
Athena Diagnostics Inc 0 0 0 0 10 0 10
Baylor Miraca Genetics Laboratories, 3 0 6 0 0 0 9
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 4 2 0 0 0 7
Integrated Genetics/Laboratory Corporation of America 2 3 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 4 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 0 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1

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