ClinVar Miner

Variants in gene AHI1

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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 total
56 18 93 84 47 252

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Joubert syndrome 10 2 49 22 23 99
not provided 11 6 37 22 12 87
not specified 0 0 3 50 31 65
Joubert syndrome 3 43 6 7 1 3 56
Retinitis pigmentosa 1 4 1 0 0 6
See cases 0 0 4 0 0 4
Abnormality of the eye 0 1 0 0 0 1
Global developmental delay; Oculomotor apraxia; Generalized hypotonia; Cerebellar vermis hypoplasia; Relative macrocephaly; Congenital ptosis 0 0 1 0 0 1
Global developmental delay; Typical Joubert syndrome MRI findings 0 1 0 0 0 1
Leber congenital amaurosis 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 10 5 18 40 22 95
Invitae 10 2 12 13 18 55
Illumina Clinical Services Laboratory,Illumina 0 1 39 9 5 54
PreventionGenetics 0 0 0 25 22 47
UW Hindbrain Malformation Research Program,University of Washington 32 0 0 0 0 32
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 13 5 11 30
Genetic Services Laboratory, University of Chicago 1 1 2 6 2 12
OMIM 10 0 1 0 0 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 4 4 1 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 4 1 0 6
NIHR Bioresource Rare Diseases,University of Cambridge 0 5 0 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 2 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 2 0 0 2
Molecular Diagnostics Laboratory,Seoul National University Hospital 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
Human Genetics - Radboudumc,Radboudumc 1 0 1 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 2
Broad Institute Rare Disease Group,Broad Institute 0 0 2 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 1
Mendelics 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 1
ISCA site 6 0 0 1 0 0 1
Rui Chen Lab,Baylor College of Medicine 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 1

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