ClinVar Miner

Variants studied for adenylosuccinate lyase deficiency

Included ClinVar conditions (1):
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 not provided total
55 29 504 181 31 3 775

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
ADSL 55 29 502 181 31 3 773
ACO2, ADSL, ANKRD54, APOBEC3A, APOBEC3B, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ATF4, BAIAP2L2, C1QTNF6, C22orf23, CACNA1I, CACNG2, CARD10, CBX6, CBX7, CBY1, CCDC134, CDC42EP1, CENPM, CHADL, CIMIP4, CSDC2, CSF2RB, CSNK1E, CYTH4, DDX17, DESI1, DMC1, DNAJB7, DNAL4, EIF3D, EIF3L, ELFN2, ENTHD1, EP300, FAM227A, FAM83F, FOXRED2, GALR3, GCAT, GGA1, GRAP2, GTPBP1, H1-0, HMOX1, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, L3MBTL2, LGALS1, LGALS2, MAFF, MB, MCHR1, MCM5, MEI1, MFNG, MGAT3, MICALL1, MIEF1, MIR33A, MIR659, MPST, MRTFA, MYH9, NAGA, NCF4, NDUFA6, NOL12, NPTXR, PDGFB, PDXP, PHETA2, PHF5A, PICK1, PLA2G6, PMM1, POLR2F, POLR3H, PVALB, RAC2, RANGAP1, RASD2, RBFOX2, RBX1, RPL3, RPS19BP1, SEPTIN3, SGSM3, SH3BP1, SHISA8, SLC16A8, SLC25A17, SMDT1, SNORD139, SNORD43, SNORD83A, SNORD83B, SNU13, SOX10, SREBF2, SSTR3, ST13, SUN2, SYNGR1, TAB1, TEF, TMEM184B, TMPRSS6, TNFRSF13C, TNRC6B, TOB2, TOMM22, TRIOBP, TST, TXN2, WBP2NL, XPNPEP3, XRCC6, ZC3H7B 0 0 1 0 0 0 1
ADSL, ATF4, CACNA1I, ENTHD1, FAM83F, GRAP2, MCHR1, MGAT3, MIEF1, MRTFA, PDGFB, RPL3, RPS19BP1, SGSM3, SNORD139, SNORD43, SNORD83A, SNORD83B, SYNGR1, TAB1, TNRC6B 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 46 16 477 181 31 0 751
Illumina Laboratory Services, Illumina 1 1 22 0 4 0 28
Fulgent Genetics, Fulgent Genetics 5 0 6 1 0 0 12
Revvity Omics, Revvity 4 4 3 0 0 0 11
Baylor Genetics 2 1 6 0 0 0 9
OMIM 8 0 0 0 0 0 8
Mendelics 3 3 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 3
MGZ Medical Genetics Center 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
3billion 0 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Edith Wolfson Medical Center 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
Genome-Nilou Lab 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 1

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