ClinVar Miner

Variants studied for Adrenoleukodystrophy

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
114 52 156 34 50 383

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 total
ABCD1 112 52 156 34 50 381
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, TAZ, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 1
ABCD1, BCAP31, SLC6A8 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 79 19 101 21 35 255
Illumina Clinical Services Laboratory,Illumina 0 1 39 13 18 71
Johns Hopkins Genomics,Johns Hopkins University 15 7 6 0 0 28
OMIM 24 0 0 0 0 24
Mendelics 6 4 1 3 3 17
Molecular Diagnostics Laboratory, M Health: University of Minnesota 4 9 0 0 0 13
Integrated Genetics/Laboratory Corporation of America 5 4 2 1 0 12
Institute of Human Genetics, University of Leipzig Medical Center 8 4 0 0 0 12
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
Mayo Clinic Genetic Testing 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
Athena Diagnostics Inc 0 0 0 0 1 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 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
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
Pediatrics Genetics,Post Graduate Institute of Medical Education and Research 0 1 0 0 0 1

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