ClinVar Miner

Variants studied for lobar holoprosencephaly

Included ClinVar conditions (4):
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
54 23 396 323 92 1 855

Gene and significance breakdown #

Total genes and gene combinations: 12
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GLI2 23 14 254 217 80 0 557
ZIC2 23 7 111 97 12 1 248
LOC110008580, ZIC2 2 1 28 9 0 0 40
DISP1 0 0 2 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ABCC4, CLDN10, CLYBL, DCT, DNAJC3, DOCK9, DZIP1, FARP1, FGF14, GGACT, GPC5, GPC6, GPR18, GPR180, GPR183, HS6ST3, IPO5, ITGBL1, MBNL2, METTL21C, MIR17, MIR17HG, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, NALCN, OXGR1, PCCA, RAP2A, RNF113B, SLC15A1, SOX21, STK24, TGDS, TM9SF2, TMTC4, TPP2, UBAC2, UGGT2, ZIC2, ZIC5 1 0 0 0 0 0 1
ABHD13, ANKRD10, ARGLU1, ARGLU1-DT, BIVM, BIVM-ERCC5, CARS2, CCDC168, CLYBL, COL4A1, COL4A2, DAOA, DOCK9, DOCK9-DT, EFNB2, ERCC5, FARP1, FGF14, FGF14-IT1, FKSG29, GGACT, GPR18, GPR183, ING1, IRS2, ITGBL1, LIG4, LINC00343, LINC00370, LINC00396, LINC00399, LINC00411, LINC00431, LINC00443, LINC00449, LINC00460, LINC00554, LINC00567, LINC00676, LINC01039, LINC01232, LINC01309, LINC03032, LINC03061, LINC03082, LOC105370349, LOC105370362, LOC107992391, LOC110008580, LOC110120930, LOC110121473, LOC112163637, LOC112163638, LOC112163639, LOC112163640, LOC112163643, LOC116268457, LOC121468004, LOC121468005, LOC121468006, LOC121468007, LOC121838582, LOC121838583, LOC124909516, LOC124909517, LOC124909518, LOC124909519, LOC124946325, LOC124946326, LOC124946327, LOC124946328, LOC124946329, LOC124946330, LOC124946331, LOC124946333, LOC124946334, LOC124946336, LOC124946337, LOC124946338, LOC124946339, LOC124946340, LOC126088081, LOC126861819, LOC126861820, LOC126861821, LOC126861822, LOC126861823, LOC126861824, LOC126861825, LOC126861826, LOC126861827, LOC126861828, LOC126861829, LOC126861830, LOC126861831, LOC126861832, LOC126861833, LOC126861834, LOC126861835, LOC126861836, LOC126861837, LOC126861838, LOC126861839, LOC126861840, LOC126861841, LOC126861842, LOC126861843, LOC126861844, LOC126861845, LOC126861846, LOC126861847, LOC126861848, LOC126861849, LOC126861850, LOC126861851, LOC126861852, LOC126861853, LOC126861854, LOC126861855, LOC126861856, LOC126861857, LOC126861858, LOC126861859, LOC126861860, LOC129390609, LOC130009997, LOC130009998, LOC130009999, LOC130010000, LOC130010001, LOC130010002, LOC130010003, LOC130010004, LOC130010005, LOC130010006, LOC130010007, LOC130010008, LOC130010009, LOC130010010, LOC130010011, LOC130010012, LOC130010013, LOC130010014, LOC130010015, LOC130010016, LOC130010017, LOC130010018, LOC130010019, LOC130010020, LOC130010021, LOC130010022, LOC130010023, LOC130010024, LOC130010025, LOC130010026, LOC130010027, LOC130010028, LOC130010029, LOC130010030, LOC130010031, LOC130010032, LOC130010033, LOC130010034, LOC130010035, LOC130010036, LOC130010037, LOC130010038, LOC130010039, LOC130010040, LOC130010041, LOC130010042, LOC130010043, LOC130010044, LOC130010045, LOC130010046, LOC130010047, LOC130010048, LOC130010049, LOC130010050, LOC130010051, LOC130010052, LOC130010053, LOC130010054, LOC130010055, LOC130010056, LOC130010057, LOC130010058, LOC130010059, LOC130010060, LOC130010061, LOC130010062, LOC130010063, LOC130010064, LOC130010065, LOC130010066, LOC130010067, LOC130010068, LOC130010069, LOC130010070, LOC130010071, LOC130010072, LOC130010073, LOC130010074, LOC130010075, LOC130010076, LOC130010077, LOC130010078, LOC130010079, LOC130010080, LOC130010081, LOC130010082, LOC130010083, LOC130010084, LOC130010085, LOC130010086, LOC130010087, LOC130010088, LOC130010089, LOC130010090, LOC130010091, LOC130010092, LOC130010093, LOC130010094, LOC130010095, LOC130010096, LOC130010097, LOC130010098, LOC130010099, LOC130010100, LOC130010101, LOC130010102, LOC130010103, LOC130010104, LOC130010105, LOC130010106, LOC130010107, LOC130010108, LOC130010109, LOC130010110, LOC130010111, LOC130010112, LOC130010113, LOC130010114, LOC130010115, LOC130010116, LOC130010117, LOC130010118, LOC130010119, LOC130010120, LOC130010121, LOC130010122, LOC130010123, LOC130010124, LOC130010125, LOC130010126, LOC130010127, LOC130010128, LOC130010129, LOC130010130, LOC130010131, LOC130010132, LOC130010133, LOC130010134, LOC130010135, LOC130010136, LOC130010137, LOC130010138, LOC130010139, LOC130010140, LOC130010141, LOC130010142, LOC130010143, LOC130010144, LOC130010145, LOC130010146, LOC130010147, LOC130494219, LOC132090155, LOC132090156, LOC132090157, LOC132090158, LOC132090159, LOC132090160, LOC132090161, LOC132090162, LOC132090163, LOC132090164, LOC132090165, LOC132090166, LOC132090167, LOC132090168, LOC132090169, LOC132090170, LOC132090171, LOC132090172, LOC132090173, LOC132090866, LOC132090867, METTL21C, MIR1267, MIR2681, MIR4306, MIR4705, MIR623, MIR8073, MYO16, NALCN, NALF1, NALF1-IT1, NAXD, PCCA, PCCA-DT, POGLUT2, PRECSIT, RAB20, SLC10A2, SLC15A1, SNORD31B, STK24, TEX30, TM9SF2, TMTC4, TNFSF13B, TPP2, UBAC2, ZIC2, ZIC5 1 0 0 0 0 0 1
BIVM, BIVM-ERCC5, CCDC168, CLYBL, ERCC5, FGF14, GGACT, ITGBL1, METTL21C, NALCN, PCCA, POGLUT2, SLC10A2, TEX30, TM9SF2, TMTC4, TPP2, UBAC2, ZIC2, ZIC5 0 0 1 0 0 0 1
CLYBL, DOCK9, FGF14, GGACT, GPR18, GPR183, ITGBL1, NALCN, PCCA, SLC15A1, TM9SF2, TMTC4, UBAC2, ZIC2, ZIC5 1 0 0 0 0 0 1
CLYBL, DOCK9, GGACT, GPR18, GPR183, PCCA, SLC15A1, STK24, TM9SF2, TMTC4, UBAC2, ZIC2, ZIC5 1 0 0 0 0 0 1
CLYBL, TM9SF2, UBAC2, ZIC2, ZIC5 1 0 0 0 0 0 1
FGFR1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 25 6 323 293 76 0 723
Illumina Laboratory Services, Illumina 0 0 59 40 41 0 140
Fulgent Genetics, Fulgent Genetics 0 1 7 5 2 0 15
OMIM 13 0 0 0 0 0 13
Genome-Nilou Lab 1 0 0 0 9 0 10
GeneReviews 7 0 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 6 1 0 0 7
New York Genome Center 0 0 7 0 0 0 7
Baylor Genetics 4 2 0 0 0 0 6
Muenke lab, National Institutes of Health 6 0 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 4 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 4 0 0 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
Laboratory of Molecular Genetics, CHU Rennes 0 1 2 0 0 0 3
3billion 0 1 1 1 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 1 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.