ClinVar Miner

Variants studied for Adrenoleukodystrophy

Coded as:
Minimum submission review status: Collection method:
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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
141 77 187 175 74 2 609

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ABCD1 139 77 187 175 74 2 607
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, F8, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, MPP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 1
ABCD1, BCAP31, SLC6A8 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 105 27 118 158 62 0 470
Illumina Clinical Services Laboratory,Illumina 1 1 39 13 18 0 72
Johns Hopkins Genomics, Johns Hopkins University 15 9 6 0 0 0 30
OMIM 24 0 0 0 0 0 24
Natera, Inc. 0 0 7 7 6 0 20
Mendelics 6 4 1 3 3 0 17
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 13 0 0 0 0 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 6 2 1 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 9 7 0 0 0 0 16
Baylor Genetics 1 0 4 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 2 0 0 0 5
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 5 0 0 0 5
Nilou-Genome Lab 0 0 3 0 2 0 5
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 4 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 0 3
Counsyl 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 1 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit,IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Athena Diagnostics Inc 0 0 0 0 1 0 1
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 0 1
Faculty of Medicine, Iran University of Medical Sciences (IUMS) 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Kangwon National University Hospital 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Diagnostics Services, CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1

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