ClinVar Miner

Variants studied for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

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
180 194 141 275 18 9 684

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GALT 158 174 126 253 18 9 616
GALT, LOC130001683 18 20 14 22 0 0 63
GALT, LOC130001682, LOC130001683 2 0 0 0 0 0 2
ANKRD18B, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CHMP5, CIMIP2B, CLTA, CNTFR, CREB3, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, EXOSC3, FAM219A, FAM221B, FANCG, FBXO10, FRMPD1, GALT, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, IL11RA, KIF24, MELK, MSMP, MYORG, NDUFB6, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PHF24, PIGO, POLR1E, PRSS3, RECK, RGP1, RIGI, RMRP, RNF38, RPP25L, RUSC2, SIGMAR1, SIT1, SMU1, SPAG8, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, STOML2, TAF1L, TESK1, TLN1, TMEM215, TMEM8B, TOMM5, TOPORS, TPM2, TRMT10B, UBAP1, UBAP2, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7 0 0 1 0 0 0 1
GALT, IL11RA 1 0 0 0 0 0 1
GALT, IL11RA, LOC121331325, LOC130001682, LOC130001683, LOC130001684 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 148 57 65 268 13 0 551
Baylor Genetics 55 39 2 0 0 0 96
Counsyl 5 49 38 3 1 0 96
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 39 21 1 0 7 0 68
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 12 8 5 2 9 0 36
Illumina Laboratory Services, Illumina 3 1 25 3 3 0 35
Myriad Genetics, Inc. 5 26 2 0 0 0 33
Fulgent Genetics, Fulgent Genetics 9 3 4 2 2 0 20
Revvity Omics, Revvity 7 5 4 0 0 0 16
Mendelics 6 5 1 0 3 0 15
GeneReviews 2 0 0 0 3 9 14
OMIM 13 0 0 0 0 0 13
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 3 1 0 0 0 10
Genome-Nilou Lab 0 0 2 1 4 0 7
Istanbul Faculty of Medicine, Istanbul University 3 1 1 0 0 0 5
Lifecell International Pvt. Ltd 3 0 0 0 1 0 4
3billion 3 0 1 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 0 0 0 0 3
DASA 3 0 0 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 1 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
Pars Genome Lab 0 1 0 0 0 0 1
Neonatal Research Center, Shiraz University of Medical Science 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 0 0 1 0 1

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