ClinVar Miner

Variants studied for inborn disorder of lysosomal amino acid transport

Included ClinVar conditions (15):
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
349 279 738 1022 136 20 2336

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GNE 118 53 320 399 34 4 885
CTNS 135 112 228 340 61 14 788
SLC17A5 78 96 148 242 29 2 540
LOC129996727, SLC17A5 5 9 20 30 3 0 61
LOC132089454, SLC17A5 3 7 3 10 1 0 22
CTNS, LOC130059980 0 0 6 1 3 0 10
CTNS, P2RX5-TAX1BP3, TAX1BP3 0 0 7 0 3 0 10
CTNS, LOC130059980, LOC130059981 3 0 0 0 0 0 3
GNE, LOC130001749 0 0 1 0 1 0 2
ASPA, CTNS, SHPK, TAX1BP3, TRPV1, TRPV3 1 0 0 0 0 0 1
ASPA, CTNS, SHPK, TRPV1, TRPV3 1 0 0 0 0 0 1
CGAS, DDX43, DPPA5, EEF1A1, KCNQ5, KHDC1, KHDC1L, KHDC3L, MTO1, OOEP, RIMS1, SLC17A5 1 0 0 0 0 0 1
CTNS, LOC126862464, LOC130059979, LOC130059980, LOC130059981, SHPK, TRPV1 1 0 0 0 0 0 1
CTNS, LOC130059981 0 0 1 0 0 0 1
CTNS, SHPK 1 0 0 0 0 0 1
CTNS, SHPK, TAX1BP3 0 0 1 0 0 0 1
CTNS, SHPK, TRPV1 1 0 0 0 0 0 1
CTNS, TAX1BP3 0 1 0 0 0 0 1
CTNS, TRPV1 0 0 0 0 1 0 1
EEF1A1, MTO1, SLC17A5 0 0 1 0 0 0 1
LOC129996727, LOC132089448, LOC132089449, LOC132089450, LOC132089451, LOC132089452, LOC132089453, LOC132089454, LOC132089455, LOC132089456, LOC132089457, LOC132089458, SLC17A5 0 0 1 0 0 0 1
LOC132089454, LOC132089455, LOC132089456, LOC132089457, SLC17A5 1 0 0 0 0 0 1
RAG2 0 1 0 0 0 0 1
SLC66A1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 296 65 436 985 41 0 1823
Illumina Laboratory Services, Illumina 0 0 212 29 83 0 320
Fulgent Genetics, Fulgent Genetics 42 74 103 19 0 0 236
Baylor Genetics 65 70 1 0 0 0 136
Natera, Inc. 23 4 44 15 20 0 106
Counsyl 12 66 22 3 1 0 104
Genome-Nilou Lab 11 7 10 6 29 0 63
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 30 17 0 0 0 0 47
OMIM 30 0 0 0 0 0 30
GeneReviews 2 0 0 0 0 19 21
Myriad Genetics, Inc. 2 19 0 0 0 0 21
Neuberg Centre For Genomic Medicine, NCGM 4 3 4 0 0 0 11
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 10 0 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 4 2 0 0 0 9
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 3 0 1 0 4 0 8
3billion, Medical Genetics 5 1 0 0 0 0 6
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 5 0 0 0 0 0 5
Mendelics 3 0 0 1 0 0 4
Undiagnosed Diseases Network, NIH 3 1 0 0 0 0 4
New York Genome Center 2 0 2 0 0 0 4
Institute of Human Genetics, Cologne University 0 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 1 0 0 0 3
Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir 3 0 0 0 0 0 3
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 2 0 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 2 0 0 0 0 0 2
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Molecular Diagnostic Laboratory, Diagnostic Services, Shared Health Manitoba 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
MyeliNeuroGene Lab, McGill University Health Center Research Institute 1 0 0 0 0 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Congenital and Hereditary Diseases, Charles Nicolle Hospital 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Medical Genetics Department, Charles Nicolle Hospital Tunis 0 1 0 0 0 0 1

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