ClinVar Miner

Variants in gene NPHS1

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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 drug response total
81 171 208 213 54 3 603

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response total
not provided 57 27 36 186 45 0 342
Finnish congenital nephrotic syndrome 46 153 84 24 26 0 292
Congenital nephrotic syndrome 1 2 103 11 12 0 129
not specified 0 0 4 10 21 0 33
Nephrotic syndrome 6 3 2 1 0 0 12
Proteinuria 0 0 4 1 0 0 5
Corticosteroid response 0 0 0 0 0 3 3
Familial idiopathic steroid-resistant nephrotic syndrome 0 1 1 0 0 0 2
Focal segmental glomerulosclerosis 1 0 1 0 0 0 2
Congenital nephrotic syndrome; Steroid-resistant nephrotic syndrome; Nephrotic range proteinuria 0 1 0 0 0 0 1
Glomerulonephritis (disease) 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response total
Invitae 53 21 13 184 38 0 309
Illumina Clinical Services Laboratory,Illumina 4 0 111 11 12 0 138
Counsyl 11 60 32 6 1 0 110
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 106 0 0 0 0 107
Natera, Inc. 13 2 39 18 25 0 97
Integrated Genetics/Laboratory Corporation of America 22 6 3 1 7 0 39
Athena Diagnostics Inc 6 1 12 3 14 0 36
PreventionGenetics, PreventionGenetics 0 0 0 9 18 0 27
Blueprint Genetics 2 2 6 1 0 0 11
OMIM 10 0 0 0 0 0 10
Sydney Genome Diagnostics,Children's Hospital Westmead 6 3 1 0 0 0 10
Baylor Genetics 6 1 2 0 0 0 9
GeneDx 3 1 3 0 2 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 2 0 6 0 9
Gharavi Laboratory,Columbia University 2 2 5 0 0 0 9
Broad Institute Rare Disease Group, Broad Institute 1 1 4 0 1 0 7
Mendelics 1 2 1 1 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 2 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 1 0 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 4 0 4
Fulgent Genetics,Fulgent Genetics 1 2 1 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 2 1 0 0 4
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences 0 0 0 0 0 3 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
Myriad Women's Health, Inc. 3 0 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Precision Medicine Center,Zhengzhou University 0 1 0 0 0 0 1

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