ClinVar Miner

Variants studied for Holoprosencephaly 5

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
31 8 168 139 12 1 356

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ZIC2 24 7 134 128 12 1 303
LOC110008580, ZIC2 2 1 33 11 0 0 47
​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, TM9SF2, UBAC2, ZIC2, ZIC5 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 15 4 159 136 12 0 326
Fulgent Genetics, Fulgent Genetics 0 0 6 2 0 0 8
GeneReviews 7 0 0 0 0 0 7
OMIM 6 0 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
Revvity Omics, Revvity 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Baylor Genetics 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
3billion, Medical Genetics 0 0 1 1 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 1 0 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

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