ClinVar Miner

Variants in gene NIPA1

See also:
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
4 1 146 85 63 2 284

Condition and significance breakdown #

Total conditions: 11
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary spastic paraplegia 6 4 1 112 58 48 0 218
not provided 1 0 15 25 26 0 64
Spastic paraplegia, autosomal dominant 0 0 6 6 3 0 15
Inborn genetic diseases 0 0 12 0 0 0 12
not specified 0 0 4 5 1 0 9
Hereditary spastic paraplegia 1 0 5 1 1 0 8
NIPA1-related disorder 0 0 1 7 0 0 8
Preeclampsia 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1
Small for gestational age 0 0 0 0 0 1 1
Spastic paraplegia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 84 13 47 0 144
Labcorp Genetics (formerly Invitae), Labcorp 3 0 35 57 6 0 101
GeneDx 0 0 8 12 14 0 34
Breakthrough Genomics, Breakthrough Genomics 0 0 1 0 19 0 20
CeGaT Center for Human Genetics Tuebingen 1 0 1 12 1 0 15
Ambry Genetics 0 0 12 0 0 0 12
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 0 5 1 1 0 8
PreventionGenetics, part of Exact Sciences 0 0 1 7 0 0 8
Athena Diagnostics 1 0 3 1 1 0 6
Mayo Clinic Laboratories, Mayo Clinic 1 0 3 0 0 0 4
OMIM 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 0 2
Clinical Genetics, Academic Medical Center 0 0 0 1 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 2
Eurofins Ntd Llc (ga) 1 0 1 0 0 0 2
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 2 2
Paris Brain Institute, Inserm - ICM 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 1 0 1
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.