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
30 8 140 105 12 1 294

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 23 7 111 96 12 1 248
LOC110008580, ZIC2 2 1 28 9 0 0 40
​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
Invitae 14 4 132 103 12 0 265
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
Fulgent Genetics, Fulgent Genetics 0 0 3 2 0 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
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
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
3billion 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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