ClinVar Miner

Variants studied for 4p partial monosomy syndrome

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
10 1 11 4 1 1 28

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
NSD2 6 1 8 1 0 1 17
LETM1 0 0 1 2 1 0 4
FGFRL1 0 0 1 1 0 0 2
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, ATP5ME, BLOC1S4, C4orf50, CCDC96, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CYTL1, DGKQ, DOK7, EVC, EVC2, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HTRA3, HTT, IDUA, JAKMIP1, KIAA0232, LETM1, LINC01587, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NOP14, NSD2, NSG1, OTOP1, PCGF3, PDE6B, PIGG, POLN, PPP2R2C, PSAPL1, RGS12, RNF212, RNF4, S100P, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC49A3, SORCS2, SPON2, STK32B, STX18, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TNIP2, TRMT44, UVSSA, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732 1 0 0 0 0 0 1
ADGRA3, ANAPC4, ARAP2, BOD1L1, BST1, C1QTNF7, C4orf19, CC2D2A, CCDC149, CCKAR, CD38, CLRN2, CPEB2, CPEB2-DT, DCAF16, DHX15, DTHD1, FAM184B, FAM200B, FBXL5, FGFBP1, FGFBP2, GBA3, HS3ST1, KCNIP4, KCNIP4-IT1, LAP3, LCORL, LDB2, LGI2, LINC00504, LINC01085, LINC01096, LINC01097, LINC01182, LINC02261, LINC02270, LINC02353, LINC02360, LINC02364, LINC02472, LINC02473, LINC02484, LINC02493, LINC02497, LINC02501, LINC02505, LINC02506, LINC02616, LOC100505912, LOC101928622, LOC101928721, LOC101929161, LOC105374511, LOC105374516, LOC105374556, LOC105374557, LOC105377651, LOC107986178, LOC110120633, LOC110120784, LOC110121305, LOC111465013, LOC111721707, LOC111828517, LOC112939924, LOC112939928, LOC112939929, LOC112939931, LOC112939932, LOC114004385, LOC114827818, LOC121048739, LOC121048740, LOC121048741, LOC121048742, LOC121725169, LOC123477707, LOC123477708, LOC123477709, LOC123477710, LOC123477711, LOC123477712, LOC123477713, LOC123477714, LOC123477715, LOC123477716, LOC123477717, LOC123477718, LOC123477719, LOC123477720, LOC123477721, LOC123477723, LOC123477724, LOC123477725, LOC123477726, LOC123477727, LOC123477728, LOC126806976, LOC126806977, LOC126806978, LOC126806979, LOC126806980, LOC126806981, LOC126806982, LOC126806983, LOC126806984, LOC126806985, LOC126806986, LOC126806987, LOC126806988, LOC126806989, LOC126806990, LOC126806991, LOC126806992, LOC126806993, LOC126806994, LOC126806995, LOC126806996, LOC126806997, LOC126806998, LOC126806999, LOC126807000, LOC126807001, LOC126807002, LOC126807003, LOC126807004, LOC126807005, LOC126807006, LOC126807007, LOC126807008, LOC126807009, LOC126807010, LOC126807011, LOC126807012, LOC126807013, LOC126807014, LOC126807015, LOC126807016, LOC126807017, LOC126807018, LOC126807019, LOC126807020, LOC126807021, LOC126807022, LOC126807023, LOC126807024, LOC126807025, LOC126807026, LOC126807027, LOC126807028, LOC126807029, LOC126807030, LOC126807031, LOC126807032, LOC126807033, LOC126807034, LOC126807035, LOC129389202, LOC129389203, LOC129389204, LOC129389205, LOC129389206, LOC129389207, LOC129389208, LOC129992260, LOC129992261, LOC129992262, LOC129992263, LOC129992264, LOC129992265, LOC129992266, LOC129992267, LOC129992268, LOC129992269, LOC129992270, LOC129992271, LOC129992272, LOC129992273, LOC129992274, LOC129992275, LOC129992276, LOC129992277, LOC129992278, LOC129992279, LOC129992280, LOC129992281, LOC129992282, LOC129992283, LOC129992284, LOC129992285, LOC129992286, LOC129992287, LOC129992288, LOC129992289, LOC129992290, LOC129992291, LOC129992292, LOC129992293, LOC129992294, LOC129992295, LOC129992296, LOC129992297, LOC129992298, LOC129992299, LOC129992300, LOC129992301, LOC129992302, LOC129992303, LOC129992304, LOC129992305, LOC129992306, LOC129992307, LOC129992308, LOC129992309, LOC129992310, LOC129992311, LOC129992312, LOC129992313, LOC129992314, LOC129992315, LOC129992316, LOC129992317, LOC129992318, LOC129992319, LOC129992320, LOC129992321, LOC129992322, LOC129992323, LOC129992324, LOC129992325, LOC129992326, LOC129992327, LOC129992328, LOC129992329, LOC129992330, LOC129992331, LOC129992332, LOC129992333, LOC129992334, LOC129992335, LOC129992336, LOC129992337, LOC129992338, LOC129992339, LOC129992340, LOC129992341, LOC129992342, LOC129992343, LOC129992344, LOC129992345, LOC129992346, LOC129992347, LOC129992348, LOC129992349, LOC129992350, LOC129992351, LOC129992352, LOC129992353, LOC129992354, LOC129992355, LOC129992356, LOC129992357, LOC129992358, LOC129992359, LOC129992360, LOC129992361, LOC129992362, LOC129992363, LOC129992364, LOC129992365, LOC129992366, LOC129992367, LOC129992368, LOC129992369, LOC129992370, LOC129992371, LOC129992372, LOC129992373, LOC129992374, LOC129992375, LOC129992376, LOC129992377, LOC129992378, LOC129992379, LOC129992380, LOC129992381, LOC129992382, LOC129992383, LOC129992384, LOC129992385, LOC129992386, LOC129992387, LOC129992388, LOC129992389, LOC129992390, LOC129992391, LOC129992392, LOC129992393, LOC129992394, LOC129992395, LOC129992396, LOC129992397, LOC129992398, LOC129992399, LOC129992400, LOC129992401, LOC129992402, LOC129992403, LOC129992404, LOC129992405, LOC129992406, LOC129992407, LOC129992408, LOC129992409, LOC129992410, LOC129992411, LOC129992412, LOC129992413, LOC129992414, LOC129992415, LOC132089075, LOC132089111, LOC132089112, LOC132089113, LOC132089114, LOC132089115, LOC132089116, LOC132089117, LOC132089118, LOC132089119, LOC132089120, LOC132089121, LOC132089122, LOC132089123, LOC132089124, LOC132089125, LOC132089126, LOC132089127, LOC132089128, LOC132089129, LOC132089130, LOC132089131, LOC132089132, LOC132089133, LOC132089134, LOC132089135, LOC132089136, LOC132089137, LOC132089138, LOC132089139, LOC132090704, LOC439933, MED28, MED28-DT, MIR12113, MIR12115, MIR1255B1, MIR218-1, MIR4275, MIR4801, MIR5091, MIR573, MIR7978, NCAPG, NKX3-2, NWD2, PACRGL, PCDH7, PGM2, PI4K2B, PPARGC1A, PROM1, PTTG2, QDPR, RAB28, RBPJ, RELL1, SEL1L3, SEPSECS, SLC34A2, SLIT2, SLIT2-IT1, SMIM20, SNORA75B, SOD3, STIM2, TAPT1, TBC1D1, TBC1D19, ZCCHC4 1 0 0 0 0 0 1
ADGRA3, DHX15, GBA3, KCNIP4, PACRGL, PPARGC1A, SLIT2 1 0 0 0 0 0 1
CRIPAK, FAM53A, FGFR3, HAUS3, LETM1, MAEA, MXD4, NAT8L, NELFA, NICOL1, NKX1-1, NSD2, POLN, SLBP, TACC3, TMEM129, UVSSA, ZFYVE28 1 0 0 0 0 0 1
NUF2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 5 1 0 0 6
Baylor Genetics 4 0 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 0 3 1 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1

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