ClinVar Miner

Variants studied for Alkaptonuria

Coded as:
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
236 80 71 176 22 11 514

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
HGD 235 79 71 176 22 11 512
ABTB1, ACAD11, ACAD9, ACKR4, ACP3, ADCY5, ALDH1L1, ALG1L2, ARGFX, ASTE1, ATP2C1, BFSP2, C3orf22, CASR, CCDC14, CD86, CDV3, CFAP100, CFAP92, CHCHD6, CHST13, CNBP, COL6A5, COL6A6, COPG1, CPNE4, CSTA, DNAJB8, DNAJC13, DTX3L, EAF2, EEFSEC, EFCAB12, EFCC1, FAM162A, FBXO40, GATA2, GOLGB1, GP9, GTF2E1, H1-10, H1-8, HACD2, HCLS1, HEG1, HGD, HMCES, HSPBAP1, IFT122, ILDR1, IQCB1, ISY1, ISY1-RAB43, ITGB5, KALRN, KBTBD12, KLF15, KPNA1, LINC01565, MBD4, MCM2, MGLL, MIX23, MRPL3, MUC13, MYLK, NEK11, NPHP3, NUDT16, OSBPL11, PARP14, PARP15, PARP9, PDIA5, PIK3R4, PLXNA1, PLXND1, PODXL2, POLQ, PRR23E, RAB43, RAB7A, RABL3, RHO, ROPN1, ROPN1B, RPN1, RUVBL1, SEC22A, SEC61A1, SEMA5B, SLC12A8, SLC15A2, SLC41A3, SLC49A4, SNX4, STXBP5L, TF, TMCC1, TMEM108, TOPBP1, TPRA1, TRH, TXNRD3, TXNRD3NB, UBA5, UMPS, UROC1, WDR5B, ZNF148, ZXDC 1 0 0 0 0 0 1
HGD, LOC126806786 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 71 20 24 168 21 0 304
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 205 3 0 0 4 0 212
Illumina Laboratory Services, Illumina 3 0 40 6 9 0 58
Counsyl 10 28 8 0 0 0 46
Fulgent Genetics, Fulgent Genetics 14 2 5 14 1 0 36
GeneReviews 0 0 0 0 0 11 11
OMIM 10 0 0 0 0 0 10
Myriad Genetics, Inc. 0 9 0 0 0 0 9
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 7 0 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 2 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 0 0 0 0 5
Revvity Omics, Revvity 2 2 0 0 0 0 4
Biochemical Genetics Laboratory, National Taiwan University 1 3 0 0 0 0 4
NxGen MDx 0 3 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Chehab Lab, University of California, San Francisco 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1

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