ClinVar Miner

Variants studied for Chromosome 15q11.2 deletion syndrome

Coded as:
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
10 1 5 0 0 1 16

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
CYFIP1, NIPA1, NIPA2, TUBGCP5 4 0 0 1 5
CYFIP1, GOLGA6L1, NIPA1, NIPA2, TUBGCP5 2 0 1 0 3
CYFIP1, LOC112272575, LOC112272576, LOC126862074, LOC130056707, LOC130056708, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC283683, NIPA1, NIPA2, TUBGCP5 2 0 1 0 2
CCDC92B, CLUH, LOC105371490, LOC105371592, LOC129390822, LOC130059967, LOC130059968, LOC130059969, MIR1253, MIR6776, PAFAH1B1, RAP1GAP2 0 1 0 0 1
CYFIP1, GOLGA6L1, GOLGA6L22, GOLGA6L26, GOLGA8S, LOC112272575, LOC112272576, LOC126862074, LOC130056707, LOC130056708, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC130056719, LOC283683, MIR4509-1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 1
CYFIP1, GOLGA6L1, GOLGA6L26, GOLGA8S, LOC112272575, LOC112272576, LOC126862074, LOC130056708, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC130056719, LOC283683, MIR4509-1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 1
CYFIP1, LOC112272575, LOC126862074, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, NIPA1, NIPA2, TUBGCP5 0 0 1 0 1
CYFIP1, LOC112272575, LOC126862074, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, NIPA1, NIPA2, TUBGCP5 0 0 1 0 1
CYFIP1, LOC112272575, LOC126862074, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, NIPA1, NIPA2, TUBGCP5 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Daryl Scott Lab, Baylor College of Medicine 0 0 3 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 3
New York Genome Center 3 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 1

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