ClinVar Miner

Variants studied for canthal anomaly

Included ClinVar conditions (57):
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
525 291 1014 437 187 22 2293

Gene and significance breakdown #

Total genes and gene combinations: 59
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DHCR7 77 97 153 100 29 2 372
SOS1 23 13 159 41 19 2 250
PTPN11 69 37 97 22 20 6 225
SOS2 6 6 116 64 23 1 209
TCOF1 67 7 25 42 45 1 182
RAF1 17 26 65 21 6 2 122
KRAS 15 13 51 36 2 2 116
FOXL2 75 23 15 1 3 0 114
NRAS 7 2 61 20 7 1 97
BRAF 15 17 46 14 2 3 91
SIL1 14 2 48 14 13 0 84
RRAS 0 0 42 26 4 0 72
RIT1 25 8 29 8 1 1 62
LZTR1 20 7 24 0 0 1 49
POLR1C 6 4 27 1 3 0 40
MID1 17 8 5 0 1 0 30
SF3B4 24 0 1 0 0 0 25
MAP2K2 0 2 8 5 0 0 15
MAP2K1 2 4 3 4 0 0 13
SHOC2 1 0 7 3 0 0 11
HRAS, LRRC56 1 2 3 3 0 0 9
POLR1D 7 0 1 0 0 0 8
SPRED1 0 0 4 4 0 0 8
CBL 3 3 1 0 0 0 7
ELN 1 0 5 1 0 0 7
SPECC1L, SPECC1L-ADORA2A 2 2 3 0 0 0 7
CTDP1 1 0 0 1 4 0 6
​intergenic 2 2 1 0 0 0 5
MAP2K1, SNAPC5 0 0 4 1 1 0 5
RRAS2 5 0 0 0 0 0 5
MAPK1 4 0 0 0 0 0 4
PPP1CB 1 2 0 1 0 0 4
PTPN11, RPL6 0 0 2 1 1 0 4
A2ML1 0 0 2 1 0 0 3
MRAS 3 0 0 0 0 0 3
POLR1B 3 0 0 0 0 0 3
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 2 0 0 0 0 0 2
DHCR7, NADSYN1 0 0 1 1 1 0 2
LDLR 0 0 0 0 2 0 2
MKRN2, RAF1 0 0 2 0 0 0 2
ABHD11, BAZ1B, BCL7B, BUD23, CALN1, CLDN3, CLDN4, DNAJC30, FKBP6, FZD9, METTL27, MLXIPL, NSUN5, POM121, STX1A, TBL2, TMEM270, TRIM50, TRIM74, TYW1B, VPS37D 0 1 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CASTOR2, CCL24, CCL26, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, GTF2IRD2, GTF2IRD2B, HIP1, HSPB1, LAT2, LIMK1, MDH2, METTL27, MIR590, MLXIPL, NCF1, POM121C, POR, RCC1L, RFC2, RHBDD2, SPDYE5, SRRM3, SSC4D, STX1A, STYXL1, TBL2, TMEM120A, TMEM270, TRIM73, VPS37D, YWHAG, ZP3 1 0 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, GTF2IRD2, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NCF1, RFC2, STX1A, TBL2, TMEM270, VPS37D 1 0 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, RFC2, STX1A, TBL2, TMEM270, VPS37D 1 0 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 0 0 0 0 0 1
ACOD1, ALG11, ARL11, ATP7B, ATXN8OS, BORA, C13orf42, CAB39L, CCDC70, CDADC1, CKAP2, CLN5, CNMD, COMMD6, CYSLTR2, DACH1, DHRS12, DIAPH3, DIS3, DLEU1, DLEU2, DLEU7, EBPL, EDNRB, FAM124A, FBXL3, FNDC3A, HNRNPA1L2, INTS6, ITM2B, KCNRG, KCTD12, KLF12, KLF5, KLHL1, KPNA3, LINC00331, LINC00333, LINC00345, LINC00347, LINC00348, LINC00351, LINC00355, LINC00358, LINC00364, LINC00374, LINC00375, LINC00376, LINC00377, LINC00378, LINC00381, LINC00382, LINC00383, LINC00392, LINC00393, LINC00395, LINC00402, LINC00430, LINC00434, LINC00444, LINC00446, LINC00448, LINC00458, LINC00459, LINC00462, LINC00550, LINC00558, LINC00561, LINC00562, LINC00564, LINC01038, LINC01052, LINC01065, LINC01068, LINC01069, LINC01074, LINC01075, LINC01077, LINC01078, LINC01080, LINC01442, LINC02333, LINC02338, LINC02339, LMO7, LMO7DN, LMO7DN-IT1, LOC100129307, LOC100288208, LOC101929657, LOC102723968, LOC105370203, LOC105370268, LOC107457599, LOC107882127, LOC107882129, LOC109461478, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120891, LOC110120897, LOC110120909, LOC110120945, LOC110120946, LOC110120950, LOC110121360, LOC110121375, LOC111365190, LOC112163662, LOC112163663, LOC112163664, LOC112163665, LOC112163666, LOC112163667, LOC112163668, LOC112163669, LOC112163670, LOC112163671, LOC112163672, LOC113939939, LOC647264, LOC780529, LPAR6, MED4, MIR1297, MIR15A, MIR16-1, MIR3169, MIR3613, MIR3665, MIR4703, MIR4704, MIR5007, MIR548X2, MIR5693, MIR759, MLNR, MYCBP2, MZT1, NDFIP2, NEK3, NEK5, NUDT15, OBI1, OLFM4, PCDH17, PCDH20, PCDH8, PCDH9, PHF11, PIBF1, POU4F1, PRR20A, PRR20B, PRR20C, PRR20D, PRR20E, RB1, RB1-DT, RBM26, RCBTB1, RCBTB2, RNASEH2B, SCEL, SERPINE3, SETDB2, SETDB2-PHF11, SLAIN1, SLITRK1, SLITRK6, SNORA107, SPRY2, SPRYD7, SUCLA2, SUGT1, SUGT1-DT, TBC1D4, TDRD3, THSD1, TMEM272, TRIM13, UCHL3, UTP14C, VPS36, WDFY2 1 0 0 0 0 0 1
ADAMTS16, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH9, CEP72, CLPTM1L, CMBL, CTNND2, DAP, DNAH5, EXOC3, FASTKD3, FBXL7, ICE1, IRX1, IRX2, IRX4, LINC01194, LINC02899, LPCAT1, LRRC14B, MARCHF11, MARCHF6, MED10, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PLEKHG4B, PRDM9, RETREG1, ROPN1L, SDHA, SEMA5A, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622 1 0 0 0 0 0 1
ADAMTS16, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH12, CDH18, CEP72, CLPTM1L, CMBL, CTNND2, DAP, DNAH5, EXOC3, FASTKD3, FBXL7, ICE1, IRX1, IRX2, IRX4, LINC01194, LPCAT1, LRRC14B, MARCHF11, MARCHF6, MED10, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PLEKHG4B, RETREG1, ROPN1L, SDHA, SEMA5A, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622 1 0 0 0 0 0 1
ADAMTS16, ADCY2, AHRR, BRD9, C5orf38, C5orf49, CCDC127, CEP72, CLPTM1L, EXOC3, FASTKD3, ICE1, IRX1, IRX2, IRX4, LPCAT1, LRRC14B, MED10, MRPL36, MTRR, NDUFS6, NKD2, NSUN2, PDCD6, PLEKHG4B, SDHA, SEMA5A, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B 1 0 0 0 0 0 1
ARF6, DNAAF2, KLHDC1, KLHDC2, LINC01588, LINC01599, LOC100506499, MIR6076, NEMF, POLE2, RN7SL2, RN7SL3, SOS2, VCPKMT 0 0 1 0 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, MEX3A, RAB25, RIT1, RXFP4, SSR2, UBQLN4 0 0 1 0 0 0 1
CLTC 1 0 0 0 0 0 1
COL11A1 0 1 0 0 0 0 1
COL5A2 0 1 0 0 0 0 1
COPB2, MRPS22 1 0 0 0 0 0 1
DMPK 0 0 1 0 0 0 1
GJB2 1 0 0 0 0 0 1
KAT6B 0 1 0 0 0 0 1
MAP2K1, TIPIN 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 114
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 8 6 505 146 53 0 718
Invitae 129 27 224 207 91 0 678
Service de Génétique Moléculaire,Hôpital Robert Debré 14 37 86 50 0 0 187
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 118 51 0 0 0 0 169
OMIM 139 0 0 0 0 0 139
Baylor Genetics 69 17 31 0 0 0 117
Counsyl 3 57 41 0 0 0 101
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 27 2 9 10 44 0 92
Fulgent Genetics,Fulgent Genetics 45 8 29 1 0 0 83
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 38 8 13 1 2 0 62
Integrated Genetics/Laboratory Corporation of America 37 16 1 0 2 0 56
Wessex Regional Genetics Laboratory,Salisbury District Hospital 34 15 1 0 0 0 50
Natera, Inc. 1 3 29 8 8 0 49
GeneReviews 36 0 0 0 1 0 37
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 0 0 2 19 5 0 26
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 25 0 0 0 0 0 25
Center for Human Genetics, Inc,Center for Human Genetics, Inc 16 5 2 1 0 0 24
ClinGen RASopathy Variant Curation Expert Panel 23 1 0 0 0 0 24
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 13 3 4 0 20
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 9 5 4 1 0 0 19
Clinical Genetics Research Group, University of Calgary 18 0 0 0 0 0 18
Mendelics 3 2 5 4 3 0 17
Institute of Human Genetics, Klinikum rechts der Isar 13 4 0 0 0 0 17
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 10 1 5 0 0 0 16
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 3 3 2 1 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 13 1 2 0 0 0 16
Myriad Women's Health, Inc. 7 9 0 0 0 0 16
Blueprint Genetics 11 2 2 0 0 0 15
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 9 2 4 0 0 0 15
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 9 4 0 0 0 0 13
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 11 11
Institute of Human Genetics, University of Leipzig Medical Center 6 1 4 0 0 0 11
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 7 4 0 0 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 4 2 0 0 0 10
Center of Genomic medicine, Geneva,University Hospital of Geneva 9 1 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 8 0 1 0 0 0 9
Department of Human Genetics, University Hospital Magdeburg 6 2 1 0 0 0 9
Database of Curated Mutations (DoCM) 0 8 0 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 0 5 0 7
Johns Hopkins Genomics, Johns Hopkins University 4 0 2 1 0 0 7
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 7 0 0 0 0 0 7
Athena Diagnostics Inc 0 0 0 0 6 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 1 3 0 0 0 6
Phosphorus, Inc. 0 0 6 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 3 0 3 0 0 0 6
Genomic Medicine Lab, University of California San Francisco 3 2 1 0 0 0 6
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 4 1 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 3 0 0 0 0 5
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 5 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 3 1 0 0 0 0 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 4 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 0 1 1 0 4
Broad Institute Rare Disease Group, Broad Institute 3 1 0 0 0 0 4
Genetics Molecular Biology Lab, Hospital Juan P Garrahan 1 0 3 0 0 0 4
GenomeConnect - CFC International 0 0 0 0 0 4 4
Autoinflammatory diseases unit,CHU de Montpellier 2 2 0 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 0 0 1 0 3
UCLA Clinical Genomics Center, UCLA 2 1 0 0 0 0 3
Center for Medical Genetics Ghent,University of Ghent 3 0 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 2 1 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 2 0 0 0 3
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 2 1 0 0 0 3
Undiagnosed Diseases Network,NIH 2 0 1 0 0 0 3
Yale Center for Mendelian Genomics,Yale University 0 3 0 0 0 0 3
New York Genome Center 1 0 2 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 1 1 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 2 0 0 0 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 1 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 1 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 2 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 1 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 1 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 1
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
Genetics Laboratory,Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Medical Genetics Laboratory,CHRU Nancy 0 1 0 0 0 0 1
Pediatric Endocrinology Clinic,Ege University School of Medicine 1 0 0 0 0 0 1

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