ClinVar Miner

Variants studied for B3GALT6-congenital disorder of glycosylation

Included ClinVar conditions (6):
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 total
28 7 158 103 8 292

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
B3GALT6 28 7 154 103 8 288
ACAP3, ACTRT2, AGRN, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 0 0 1 0 0 1
ACAP3, AGRN, B3GALT6, C1QTNF12, C1orf159, CPTP, DVL1, INTS11, ISG15, MIR200A, MIR200B, MIR429, PUSL1, RNF223, SCNN1D, SDF4, TAS1R3, TNFRSF18, TNFRSF4, TTLL10, UBE2J2 0 0 1 0 0 1
ACAP3, AGRN, B3GALT6, C1QTNF12, C1orf159, INTS11, ISG15, MIR200A, MIR200B, MIR429, PUSL1, RNF223, SCNN1D, SDF4, TNFRSF18, TNFRSF4, TTLL10, UBE2J2 0 0 1 0 0 1
B3GALT6, SDF4, TNFRSF4 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 10 3 147 103 8 271
OMIM 16 0 0 0 0 16
Baylor Genetics 0 0 7 0 0 7
Fulgent Genetics, Fulgent Genetics 0 1 3 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 2
Division of Biology and Genetics, University of Brescia 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 1 0 0 0 0 1
3billion, Medical Genetics 0 0 1 0 0 1
DASA 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 1
Department of Pediatrics, Division of Pediatric Genetics, Necmettin Erbakan University Faculty of Medicine 0 0 1 0 0 1

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