ClinVar Miner

Variants studied for Gorlin 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
443 84 2043 1927 420 4 4829

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTCH1 344 63 1166 1297 277 3 3090
PTCH2 3 1 514 304 51 1 866
LOC100507346, PTCH1 85 17 241 239 62 0 628
LOC130002133, PTCH1 2 1 111 73 27 0 206
LOC130002132, PTCH1 1 0 1 13 0 0 15
SUFU 2 2 8 0 3 0 15
LOC130004614, SUFU 0 0 2 1 0 0 3
AOPEP, FANCC, LOC100507346, LOC105376156, LOC110121043, LOC124310595, LOC124310596, LOC124310597, LOC124310598, LOC124310599, LOC124310600, LOC130002126, LOC130002127, LOC130002128, LOC130002129, LOC130002130, LOC130002131, LOC130002132, LOC130002133, LOC132089731, LOC132089732, LOC132089733, PTCH1 2 0 0 0 0 0 2
LOC100507346, LOC110121043, LOC130002130, LOC130002131, LOC130002132, LOC130002133, PTCH1 2 0 0 0 0 0 2
ALDOB, ALG2, ANKS6, ANP32B, AOPEP, ASPN, AUH, BAAT, BARX1, BICD2, CARD19, CAVIN4, CCDC180, CDC14B, CENPP, COL15A1, CORO2A, CTSV, CYLC2, ECM2, ERCC6L2, ERP44, FAM120A, FAM120AOS, FANCC, FBP1, FBP2, FGD3, FOXE1, GABBR2, GALNT12, GRIN3A, HABP4, HEMGN, HSD17B3, IARS1, INVS, IPPK, MFSD14B, MIR23B, MIR24-1, MIR27B, MIRLET7A1, MIRLET7D, MIRLET7F1, MRPL50, MSANTD3, MSANTD3-TMEFF1, NANS, NCBP1, NFIL3, NINJ1, NOL8, NR4A3, NUTM2F, NUTM2G, OGN, OMD, PGAP4, PHF2, PPP3R2, PRSS47, PRXL2C, PTCH1, PTPDC1, RNF20, ROR2, SEC61B, SLC35D2, SPTLC1, STX17, SUSD3, TBC1D2, TDRD7, TEX10, TGFBR1, TMEFF1, TMOD1, TRIM14, TRMO, TSTD2, WNK2, XPA, ZNF169, ZNF189, ZNF367, ZNF484, ZNF510, ZNF782 1 0 0 0 0 0 1
AOPEP, CDC14B, ERCC6L2, FANCC, HABP4, HSD17B3, LINC00092, LOC100507346, LOC101928119, LOC105376156, LOC105376159, LOC110121043, LOC110121093, LOC113839574, LOC121331335, LOC121331336, LOC124310592, LOC124310593, LOC124310594, LOC124310595, LOC124310596, LOC124310597, LOC124310598, LOC124310599, LOC124310600, LOC124310601, LOC124310602, LOC124310603, LOC126860686, LOC126860687, LOC126860688, LOC126860689, LOC126860690, LOC130002119, LOC130002120, LOC130002121, LOC130002122, LOC130002123, LOC130002124, LOC130002125, LOC130002126, LOC130002127, LOC130002128, LOC130002129, LOC130002130, LOC130002131, LOC130002132, LOC130002133, LOC130002134, LOC130002135, LOC130002136, LOC130002137, LOC130002138, LOC130002139, LOC130002140, LOC130002141, LOC130002142, LOC130002143, LOC130002144, LOC130002145, LOC130002146, LOC130002147, LOC130002148, LOC130002149, LOC130002150, LOC130002151, LOC130002152, LOC130002153, LOC130002154, LOC130002155, LOC132089729, LOC132089730, LOC132089731, LOC132089732, LOC132089733, LOC132089734, LOC132089735, LOC132089736, LOC132089737, LOC132089738, LOC132089739, LOC132089740, LOC132090794, LOC158434, LOC158435, MIR23B, MIR24-1, MIR27B, MIR3074, MIR6081, PTCH1, SLC35D2, SLC35D2-HSD17B3, ZNF367 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 408 48 1913 1900 380 0 4649
Illumina Laboratory Services, Illumina 0 0 78 36 78 0 192
KCCC/NGS Laboratory, Kuwait Cancer Control Center 2 1 0 13 36 0 52
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 36 1 0 0 38
Mendelics 8 1 9 3 1 0 22
Baylor Genetics 2 0 16 0 0 0 18
Institute of Human Genetics, University of Leipzig Medical Center 5 7 2 0 0 0 14
OMIM 10 0 2 0 0 0 12
Genome-Nilou Lab 0 0 0 0 9 0 9
MGZ Medical Genetics Center 0 6 1 0 0 0 7
CSER _CC_NCGL, University of Washington 0 1 5 1 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 4 0 0 0 6
Oral and Maxillofacial Surgery, Tokyo Medical and Dental University 4 0 0 0 2 0 6
3billion 1 5 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 3 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 0 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Genetic Diagnostic Laboratory, University of Szeged 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 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 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 0 1
Genetics, Children's Hospital New Orleans 0 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1 0 0 0 0 0 1

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