ClinVar Miner

Variants studied for X-linked adrenoleukodystrophy

Included ClinVar conditions (3):
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 total
141 71 185 104 50 513

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ABCD1 138 71 185 104 50 510
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 1
ABCD1, BCAP31, PLXNB3 1 0 0 0 0 1
ABCD1, BCAP31, SLC6A8 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 105 27 118 87 35 372
Illumina Clinical Services Laboratory,Illumina 1 1 39 13 18 72
Johns Hopkins Genomics, Johns Hopkins University 15 9 6 0 0 30
OMIM 24 0 0 0 0 24
Natera, Inc. 0 0 7 7 6 20
Mendelics 6 4 1 3 3 17
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 11 0 0 0 15
Integrated Genetics/Laboratory Corporation of America 6 5 2 1 0 14
Institute of Human Genetics, University of Leipzig Medical Center 8 5 0 0 0 13
Baylor Genetics 2 0 4 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 2 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 5
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 4 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 3
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 2 3
Counsyl 1 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 1
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 1
Faculty of Medicine, Iran University of Medical Sciences (IUMS) 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Kangwon National University Hospital 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 1

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