ClinVar Miner

Variants in gene IFT140

See also:
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
61 39 538 478 71 1 1035

Condition and significance breakdown #

Total conditions: 19
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Saldino-Mainzer syndrome 51 12 437 447 48 0 941
Saldino-Mainzer syndrome; Retinitis pigmentosa 80 1 11 107 38 1 1 158
not provided 9 8 48 28 24 0 111
Retinal dystrophy 3 9 39 14 6 0 69
Inborn genetic diseases 0 0 43 5 0 0 48
IFT140-related condition 6 2 8 26 3 0 45
not specified 0 0 7 9 19 0 30
Retinitis pigmentosa 80 4 5 3 0 6 0 18
Retinitis pigmentosa 2 3 1 0 0 0 6
Microcephaly 0 0 2 0 0 0 2
Saldino-Mainzer syndrome; Cranioectodermal dysplasia 2 0 0 0 0 0 2
Saldino-Mainzer syndrome; Joubert syndrome with Jeune asphyxiating thoracic dystrophy 2 0 0 0 0 0 2
See cases 0 2 0 0 0 0 2
Jeune thoracic dystrophy 1 1 0 0 0 0 1
Leber congenital amaurosis 0 0 1 0 0 0 1
Nephronophthisis 0 0 1 0 0 0 1
Orofacial-digital syndrome III; Asphyxiating thoracic dystrophy 1 0 1 0 0 0 0 1
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 1 0 0 0 0 0 1
Short-rib thoracic dysplasia without polydactyly 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 43 9 366 439 44 0 901
Fulgent Genetics, Fulgent Genetics 1 11 106 38 1 0 157
Illumina Laboratory Services, Illumina 0 0 88 13 18 0 119
GeneDx 4 5 19 3 29 0 60
Dept Of Ophthalmology, Nagoya University 1 4 31 14 6 0 56
Ambry Genetics 0 0 43 5 0 0 48
PreventionGenetics, part of Exact Sciences 6 2 8 26 3 0 45
Eurofins Ntd Llc (ga) 1 0 16 3 5 0 25
CeGaT Center for Human Genetics Tuebingen 0 0 8 17 0 0 25
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 12 4 0 19
Clinical Genetics, Academic Medical Center 0 0 3 2 11 0 16
Blueprint Genetics 2 5 8 0 0 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 5 1 1 0 11
OMIM 8 0 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 1 0 1 5 0 0 7
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 6 0 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 1 2 0 0 4
Revvity Omics, Revvity 1 0 2 0 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 2 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 2 0 0 0 3
MGZ Medical Genetics Center 1 0 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Mendelics 1 0 0 0 1 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 1 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Dan Cohn Lab, University Of California Los Angeles 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DBGen Ocular Genomics 0 0 1 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.