ClinVar Miner

Variants in gene ITPR1

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
28 25 213 128 127 1 452

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal dominant cerebellar ataxia 0 0 103 34 80 0 217
not provided 8 14 68 84 61 0 215
not specified 0 1 14 14 63 0 87
Spinocerebellar ataxia type 29 8 5 7 7 2 0 28
Gillespie syndrome 14 2 9 0 0 0 24
Inborn genetic diseases 5 3 7 0 0 0 15
Intellectual disability 0 1 1 7 1 0 10
Spinocerebellar Ataxia Type 15 2 1 6 0 0 0 9
Spinocerebellar ataxia type 29; Spinocerebellar Ataxia Type 15; Gillespie syndrome 0 1 2 0 0 0 3
ITPR1-related syndromic and non-syndromic hereditary ataxias 0 0 2 0 0 0 2
Anterior segment dysgenesis 0 1 0 0 0 0 1
Behavioral abnormality; Slurred speech; Progressive gait ataxia; Movement disorder 0 0 1 0 0 0 1
Cerebellar ataxia 0 0 1 0 0 0 1
ITPR1-associated cerebellar ataxia spectrum disorder 1 0 0 0 0 0 1
Spinocerebellar ataxia type 15/16 0 1 0 0 0 0 1
Spinocerebellar ataxia type 29; Gillespie syndrome 0 0 1 0 0 0 1
Spinocerebellar ataxia type 29; Gillespie syndrome; Spinocerebellar ataxia type 15/16 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 105 34 80 0 219
Athena Diagnostics Inc 0 1 45 13 86 0 145
Invitae 3 1 5 70 39 0 118
CeGaT Praxis fuer Humangenetik Tuebingen 3 3 20 3 0 0 29
Ambry Genetics 5 3 7 0 0 0 15
Baylor Genetics 0 2 12 0 0 0 14
OMIM 13 0 0 0 0 0 13
GeneDx 2 6 4 1 0 0 13
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 5 4 3 0 13
Schule lab,Hertie Institute for Clinical Brain Research 6 0 0 7 0 0 13
Genetic Services Laboratory, University of Chicago 0 1 2 7 0 0 10
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 7 1 0 9
Mendelics 0 0 1 0 2 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 3 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Lineagen, Inc 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Eye Genetics Research Group,Children's Medical Research Institute 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 0 1
Research Group Niklas Dahl,Uppsala University 1 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 0 1
Laboratory of Molecular Pathology,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 1

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