ClinVar Miner

Variants studied for cobblestone lissencephaly

Included ClinVar conditions (32):
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
251 176 1532 528 162 2 2587

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FKTN 33 25 243 77 24 0 380
FKRP 41 12 190 86 11 0 337
POMT1 31 14 136 51 28 0 256
POMT2 24 8 154 52 15 2 251
DAG1 8 1 155 44 10 0 217
POMGNT2 8 2 136 57 11 0 214
CRPPA 30 8 84 25 13 0 159
POMGNT1, TSPAN1 10 72 51 12 7 0 140
B3GALNT2 16 11 83 29 4 0 135
GMPPB 15 8 67 30 4 0 123
LARGE1 5 1 77 9 21 0 113
POMK 11 0 59 28 7 0 101
B4GAT1 2 1 41 21 5 0 69
RXYLT1 8 4 18 2 2 0 31
POMGNT1 1 8 11 1 0 0 21
B3GALNT2, TBCE 1 1 11 3 0 0 16
LAMB1 4 0 10 1 0 0 15
CELSR1 0 0 2 0 0 0 2
ABL1, AIF1L, EXOSC2, FAM78A, FIBCD1, LAMC3, NUP214, PLPP7, POMT1, PRDM12, PRRC2B, QRFP 0 0 1 0 0 0 1
AMT, C3orf62, C3orf84, CCDC71, DAG1, GPX1, IHO1, KLHDC8B, LAMB2, NICN1, RHOA, TCTA, USP4 1 0 0 0 0 0 1
ANKMY2, BZW2, CRPPA, LRRC72, SOSTDC1 1 0 0 0 0 0 1
CALM3, DACT3, FKRP, GNG8, PRKD2, PTGIR, STRN4 0 0 1 0 0 0 1
FKRP, STRN4 0 0 1 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: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 158 52 1261 487 115 0 2073
Illumina Clinical Services Laboratory,Illumina 0 0 157 25 36 0 218
Counsyl 5 70 30 3 0 0 108
OMIM 69 0 1 0 0 0 70
Baylor Genetics 11 3 41 1 0 0 56
Natera, Inc. 5 1 34 9 6 0 55
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
Mendelics 0 3 2 3 2 0 10
Athena Diagnostics Inc 0 0 0 0 9 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 5 0 1 0 8
Integrated Genetics/Laboratory Corporation of America 5 2 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 2 0 0 0 5
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 3 0 0 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 4 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 1 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 0 3 0 0 0 3
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 2 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 0 0 0 0 2
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 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
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1

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