ClinVar Miner

Variants in gene IFT140

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Minimum submission review status: Collection method:
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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
33 18 307 168 71 1 532

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Saldino-Mainzer syndrome 21 4 280 152 46 0 467
not provided 7 4 29 27 27 0 92
not specified 0 0 0 8 21 0 24
Retinal dystrophy 2 6 10 0 0 0 18
Retinitis pigmentosa 80 6 3 1 0 8 0 18
Saldino-Mainzer syndrome; Joubert syndrome with Jeune asphyxiating thoracic dystrophy 3 0 0 0 0 0 3
Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2 0 0 0 0 1 3
Leber congenital amaurosis 0 0 2 0 0 0 2
Microcephaly 0 0 2 0 0 0 2
Retinitis pigmentosa 1 0 1 0 0 0 2
Saldino-Mainzer syndrome; Cranioectodermal dysplasia 2 0 0 0 0 0 2
Jeune thoracic dystrophy 1 1 0 0 0 0 1
Nephronophthisis 0 0 1 0 0 0 1
Orofacial-digital syndrome III; Short-rib thoracic dysplasia 1 with or without polydactyly 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: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 3 210 151 42 0 419
Illumina Clinical Services Laboratory,Illumina 0 0 95 14 20 0 129
GeneDx 3 3 6 1 32 0 45
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 19 3 5 0 28
Blueprint Genetics 2 6 10 0 0 0 18
Clinical Genetics,Academic Medical Center 0 0 1 3 13 0 17
OMIM 9 0 0 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 4 0 8
Nilou-Genome Lab 0 0 0 0 8 0 8
Laboratory of Medical Genetics, INSERM 7 0 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 0 0 0 4 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 2 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 1 1 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Mendelics 1 0 0 0 1 0 2
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 0 2
Human Genetics - Radboudumc,Radboudumc 0 0 1 0 1 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 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
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
DBGen Ocular Genomics 0 0 2 0 0 0 2
Genomics England Pilot Project,Genomics England 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Developmental Genetics Unit,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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Dan Cohn Lab,University Of California Los Angeles 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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