ClinVar Miner

Variants in gene NRXN1

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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 risk factor not provided total
83 30 664 346 138 1 2 1151

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Pitt-Hopkins-like syndrome 2 16 8 478 179 42 0 0 693
not provided 25 21 179 72 59 0 0 348
not specified 0 0 49 138 60 0 0 219
History of neurodevelopmental disorder 0 0 35 44 6 0 0 85
See cases 36 1 5 15 5 0 0 62
Pitt-Hopkins-like syndrome 0 0 30 1 1 0 0 32
Pitt-Hopkins-like syndrome 2; Schizophrenia 17 0 0 19 0 0 0 0 19
Intellectual disability 1 0 4 4 0 0 0 9
Inborn genetic diseases 0 0 3 0 0 0 0 3
Schizophrenia 17 1 0 0 0 0 1 0 2
Autism spectrum disorder 0 0 1 0 0 0 0 1
Delayed speech and language development 1 0 0 0 0 0 0 1
Gestational diabetes mellitus uncontrolled 0 0 0 0 0 0 1 1
Global developmental delay; Behavioral abnormality 1 0 0 0 0 0 0 1
Motor delay; Functional abnormality of the bladder 1 0 0 0 0 0 0 1
NRXN-Related Disorder 0 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 0 1 0 0 0 0 1
Obesity 0 1 0 0 0 0 0 1
Ovarian dysgenesis 3 0 0 0 1 0 0 0 1
Schizophrenia 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 11 6 342 188 25 0 0 572
GeneDx 9 10 107 145 97 0 0 368
Illumina Clinical Services Laboratory,Illumina 0 0 165 16 28 0 0 209
Ambry Genetics 0 0 38 44 6 0 0 88
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 66 5 12 0 0 84
Genetic Services Laboratory, University of Chicago 0 0 41 20 2 0 0 63
Quest Diagnostics Nichols Institute San Juan Capistrano 21 8 14 0 0 0 0 43
Athena Diagnostics Inc 0 0 4 4 11 0 0 19
ISCA site 1 15 1 3 0 0 0 0 19
Fulgent Genetics,Fulgent Genetics 0 0 16 0 0 0 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 12 2 0 0 0 15
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 1 2 0 11 0 0 14
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 10 0 1 0 0 0 0 11
ISCA site 6 4 0 0 4 2 0 0 10
Baylor Genetics 0 0 9 0 0 0 0 9
ISCA site 4 0 0 1 6 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 5 0 0 0 7
OMIM 4 0 0 0 0 1 0 5
PreventionGenetics, PreventionGenetics 0 0 0 1 4 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 1 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 2 0 0 0 0 3
Medical Genetics Laboratory,CHRU Nancy 3 0 0 0 0 0 0 3
Lineagen, Inc 0 0 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 1 0 0 0 0 0 2
New York Genome Center 0 1 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 0 1
Department of Psychiatry,Nagoya University 1 0 0 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 0 1 1
Cytogenetics and Genomics Laboratory,University of Washington 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 0 1
Geschwind lab,University of California Los Angeles 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 0 0 1
Dash Lab,University Health Network 0 1 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 0 1

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