ClinVar Miner

Variants in gene NRXN1

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Gene type:

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
179 63 1438 966 190 30 2657

Condition and significance breakdown #

Total conditions: 42
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Pitt-Hopkins-like syndrome 2 61 30 1105 764 60 1 1982
not provided 50 34 372 214 115 2 742
Inborn genetic diseases 5 0 219 84 6 0 314
not specified 24 0 54 105 62 0 219
NRXN1-related disorder 0 1 16 36 7 1 61
See cases 27 1 7 15 5 0 55
Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome 1 0 31 7 0 1 39
Intellectual disability 1 0 4 4 0 0 9
History of neurodevelopmental disorder 0 0 0 7 1 0 8
Autism spectrum disorder 3 0 3 1 0 0 7
Chromosome 2p16.3 deletion syndrome 2 0 2 0 0 0 4
Lung cancer 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Complex neurodevelopmental disorder 0 1 1 0 0 1 3
Melanoma 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Autism; Hyperopia, high; Mild intellectual disability; Moderate global developmental delay; Mild microcephaly 1 0 0 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Delayed speech and language development 1 0 0 0 0 0 1
Gestational diabetes mellitus uncontrolled 0 0 0 0 0 1 1
Global developmental delay; Atypical behavior 1 0 0 0 0 0 1
Motor delay; Functional abnormality of the bladder 1 0 0 0 0 0 1
Motor development delay 1 0 0 0 0 0 1
NRXN-related disorder 0 0 0 0 0 1 1
NRXN1-related Complex neurodevelopmental disorder 0 0 1 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
Obesity 0 1 0 0 0 0 1
Ovarian dysgenesis 3 0 0 0 1 0 0 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 1 1
Paediatric disorders 1 0 0 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
Schizophrenia 1 0 0 0 0 0 1
Schizophrenia 17 1 0 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1
Undefined NRXN1-related disorders 1 0 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
del2p16.3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 79
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 51 21 971 753 43 0 1839
GeneDx 10 17 251 239 154 0 671
Ambry Genetics 5 0 219 91 7 0 322
Illumina Laboratory Services, Illumina 2 1 134 15 27 0 179
CeGaT Center for Human Genetics Tuebingen 1 2 33 54 1 0 91
Eurofins Ntd Llc (ga) 1 0 66 5 12 0 84
Quest Diagnostics Nichols Institute San Juan Capistrano 41 9 25 0 0 0 75
Breakthrough Genomics, Breakthrough Genomics 0 0 7 19 42 0 68
Genetic Services Laboratory, University of Chicago 0 0 42 22 2 0 66
PreventionGenetics, part of Exact Sciences 0 1 16 36 11 0 64
Fulgent Genetics, Fulgent Genetics 0 0 23 6 0 0 29
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 24 0 3 0 0 0 27
Athena Diagnostics 0 0 6 6 14 0 26
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 22 22
Mayo Clinic Laboratories, Mayo Clinic 0 0 11 3 7 0 21
ISCA site 1 15 1 3 0 0 0 19
Revvity Omics, Revvity 0 4 13 0 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 3 6 0 14
ISCA Site 6 4 0 0 4 2 0 10
Baylor Genetics 0 0 9 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 1 7 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 4 1 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 1 0 0 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 5 0 0 7
ISCA site 4 0 0 1 6 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 4 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 4 0 0 5
OMIM 5 0 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 1 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 1 1 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 3 0 0 0 4
MVZ Martinsried, Medicover Genetics 1 1 2 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
Cytogenetics, Genetics Associates, Inc. 2 0 1 0 0 0 3
Medical Genetics Laboratory, CHRU Nancy 3 0 0 0 0 0 3
Bionano Laboratories 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 1 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Cytogenetics Laboratory, University of Washington 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Dash Lab, University Health Network 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Department of Psychiatry, Nagoya University 1 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Geschwind lab, University of California Los Angeles 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital 1 0 0 0 0 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Prenatal Diagnosis Center, Urumqi Maternal and Child Health Care Hospital 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 1 0 0 0 1

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