ClinVar Miner

Variants studied for SLC35A2-congenital disorder of glycosylation

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 not provided total
31 13 77 93 47 1 260

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
SLC35A2 30 13 73 93 47 1 255
AKAP4, ARAF, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CDK16, CFP, CLCN5, DGKK, EBP, ELK1, ERAS, FOXP3, FTSJ1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, INE1, KCND1, LINC01560, MAGIX, MIR502, MIR532, NDUFB11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM10, RBM3, SHROOM4, SLC35A2, SLC38A5, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SUV39H1, SYN1, SYP, TBC1D25, TFE3, TIMM17B, TIMP1, UBA1, USP11, USP27X, UXT, WAS, WDR13, WDR45, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81 0 0 1 0 0 0 1
CACNA1F, CCDC120, CCDC22, CLCN5, EBP, ERAS, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, KCND1, MAGIX, MIR502, MIR532, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM3, SLC35A2, SUV39H1, SYP, TBC1D25, TFE3, TIMM17B, USP27X, WAS, WDR13, WDR45 0 0 1 0 0 0 1
CCDC120, GRIPAP1, KCND1, OTUD5, PIM2, PQBP1, PRAF2, SLC35A2, TFE3, WDR45 0 0 1 0 0 0 1
ERAS, GATA1, GLOD5, HDAC6, PCSK1N, PQBP1, SLC35A2, SUV39H1, TIMM17B, WAS 0 0 1 0 0 0 1
LOC130068257, LOC130068258, SLC35A2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 15 3 71 93 47 0 229
OMIM 8 0 0 0 0 0 8
Baylor Genetics 2 1 1 0 0 0 4
Mendelics 1 3 0 0 0 0 4
Department of Hepatology, Children's Hospital of Fudan University 4 0 0 0 0 0 4
University of Washington Center for Mendelian Genomics, University of Washington 3 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 1
Unidade de Bioquimica Genetica, Centro Hospitalar do Porto 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1

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