ClinVar Miner

Variants in gene AHI1

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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
189 88 603 693 99 1 1525

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial aplasia of the vermis 150 34 426 580 53 0 1243
Joubert syndrome 3 58 28 173 40 20 0 304
not provided 23 12 87 106 59 1 269
not specified 0 1 16 46 33 0 80
Inborn genetic diseases 1 0 51 8 0 0 60
AHI1-related condition 1 1 2 23 1 0 28
Retinal dystrophy 2 5 10 0 0 0 17
Joubert syndrome and related disorders 6 8 0 0 0 0 14
Retinitis pigmentosa 4 4 1 0 0 0 9
Joubert syndrome 1 2 2 2 0 1 0 7
See cases 1 1 4 0 0 0 6
Joubert syndrome with ocular defect 4 0 1 0 0 0 5
Intellectual disability 0 0 1 3 0 0 4
Rod-cone dystrophy 2 2 0 0 0 0 4
Leber congenital amaurosis 2 0 0 0 0 0 2
Nephronophthisis 2 0 0 0 0 0 2
Abnormality of the eye 0 1 0 0 0 0 1
Global developmental delay; Oculomotor apraxia; Generalized hypotonia; Cerebellar vermis hypoplasia; Relative macrocephaly; Congenital ptosis 0 0 1 0 0 0 1
Global developmental delay; Typical Joubert syndrome MRI findings 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 150 34 423 582 52 0 1241
GeneDx 14 10 57 87 65 0 233
Fulgent Genetics, Fulgent Genetics 10 9 77 27 0 0 123
Illumina Laboratory Services, Illumina 0 1 84 16 18 0 119
PreventionGenetics, part of Exact Sciences 1 1 2 47 23 0 74
Ambry Genetics 1 0 51 8 0 0 60
CeGaT Center for Human Genetics Tuebingen 3 1 9 20 4 0 37
UW Hindbrain Malformation Research Program, University of Washington 32 0 0 0 0 0 32
Eurofins Ntd Llc (ga) 1 0 13 5 11 0 30
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 8 9 4 1 0 28
Genetic Services Laboratory, University of Chicago 1 1 5 9 5 0 21
Blueprint Genetics 2 5 10 0 0 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 2 8 4 0 16
Revvity Omics, Revvity 6 2 6 0 0 0 14
Clinical Genetics, Academic Medical Center 2 0 0 1 9 0 12
OMIM 10 0 1 0 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 2 7 0 10
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 4 4 1 0 9
Mendelics 2 2 2 0 1 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 2 1 0 0 0 7
Bionano Laboratories 3 0 4 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 1 3 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 2 0 3 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 4 0 0 0 6
Baylor Genetics 1 1 3 0 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 0 5 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 1 2 0 5
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 1 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 2 2 0 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 1 1 2 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 2 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
3billion 3 0 0 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 1 1 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 2 0 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 2 0 0 0 0 0 2
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 2 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 1
ISCA Site 6 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Rui Chen Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Institute of Vision Research, Yonsei University College of Medicine 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1

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