ClinVar Miner

Variants studied for partial deletion of the long arm of chromosome 15

Included ClinVar conditions (9):
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
51 21 33 4 2 4 110

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 not provided total
SIN3A 21 18 26 3 2 2 69
STRC 3 1 1 1 0 0 6
CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 4 0 0 0 0 1 5
CYFIP1, NIPA1, NIPA2, TUBGCP5 4 0 0 0 0 1 5
ARHGAP11B, CHRNA7, FAN1, GOLGA8H, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 4 0 0 0 0 0 4
CYFIP1, GOLGA6L1, NIPA1, NIPA2, TUBGCP5 2 0 1 0 0 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 0 0 2
​intergenic 1 0 0 0 0 0 1
ACTC1, AQR, AVEN, CDIN1, CHRM5, DPH6, EMC4, EMC7, FAM98B, FSIP1, GJD2, GOLGA8A, GOLGA8B, KATNBL1, LINC02694, LINC02915, LPCAT4, MEIS2, NOP10, NUTM1, PGBD4, RASGRP1, RYR3, SLC12A6, SPRED1, THBS1, TMCO5A, ZNF770 1 0 0 0 0 0 1
ADAMTS17, ALDH1A3, ARRDC4, ASB7, CERS3, CHSY1, IGF1R, LINS1, LRRC28, LRRK1, LYSMD4, MEF2A, NR2F2, OR4F15, OR4F6, PCSK6, PGPEP1L, SELENOS, SNRPA1, SPATA8, SYNM, TARS3, TM2D3, TTC23 1 0 0 0 0 0 1
ADAMTS17, ALDH1A3, ASB7, CERS3, CHSY1, IGF1R, LINS1, LRRC28, LRRK1, LYSMD4, MEF2A, PGPEP1L, SYNM, TTC23 0 1 0 0 0 0 1
ADPGK, ARID3B, BBS4, C15orf39, CCDC33, CD276, CIMAP1C, CLK3, COMMD4, COX5A, CPLX3, CSK, CSPG4, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, HCN4, IMP3, INSYN1, ISLR, ISLR2, LMAN1L, LOXL1, MAN2C1, MPI, NEIL1, NEO1, NPTN, PML, PPCDC, PTPN9, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, SIN3A, SNUPN, SNX33, STOML1, STRA6, TBC1D21, UBL7, ULK3 1 0 0 0 0 0 1
ARHGAP11A, CHRNA7, FAN1, GOLGA8N, GOLGA8O, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 0 1
ARHGAP11B, CHRNA7, FAN1, GOLGA8H, GOLGA8N, GOLGA8O, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 0 1
ARHGAP11B, CHRNA7, FAN1, KLF13, LINC02352, LINC03034, LOC106736476, LOC106736477, LOC106736480, LOC106783506, LOC110121498, LOC112272582, LOC121847941, LOC125078053, LOC126862088, LOC126862089, LOC127829159, LOC128899998, LOC128899999, LOC129390679, LOC129390680, LOC130056726, LOC130056727, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 0 1
ARHGAP11B, CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 0 1
CATSPER2, CKMT1A, CKMT1B, PDIA3, PPIP5K1, STRC 1 0 0 0 0 0 1
CATSPER2, CKMT1B, STRC 1 0 0 0 0 0 1
CATSPER2, LOC130056949 1 0 0 0 0 0 1
CCDC92B, CLUH, LOC105371490, LOC105371592, LOC129390822, LOC130059967, LOC130059968, LOC130059969, MIR1253, MIR6776, PAFAH1B1, RAP1GAP2 0 1 0 0 0 0 1
CHRNA7 0 0 1 0 0 0 1
COMMD4, CSPG4, IMP3, MAN2C1, NEIL1, ODF3L1, PTPN9, SIN3A, SNUPN, SNX33 0 0 1 0 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 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 0 0 1
CYFIP1, LOC112272575, LOC126862074, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 1
CYFIP1, LOC112272575, LOC126862074, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 1
CYFIP1, LOC112272575, LOC126862074, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Revvity Omics, Revvity 0 1 10 0 0 0 11
New York Genome Center 3 0 8 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 8 0 1 0 0 0 9
Baylor Genetics 5 2 1 0 0 0 8
OMIM 6 0 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 1 1 1 3 0 0 6
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 4 0 0 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 3 0 0 0 4
MGZ Medical Genetics Center 1 0 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 0 0 3 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 0 0 0 0 0 3
3billion 0 2 0 1 0 0 3
GeneReviews 2 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Research Institute, National Research Institute for Child Health and Development 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Cytogenomics Laboratory, University of Sao Paulo 1 0 0 0 0 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 1 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Solve-RD Consortium 0 1 0 0 0 0 1
St James's Hospital, Trinity College Dublin 0 0 0 0 0 1 1

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