ClinVar Miner

Variants studied for partial trisomy of the long arm of chromosome 5

Included ClinVar conditions (3):
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
5 0 25 3 23 55

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic uncertain significance likely benign benign total
LMNB1 1 25 3 23 51
ADAMTS2, ARL10, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C5orf47, C5orf60, CANX, CBY3, CDHR2, CLK4, CLTB, CNOT6, COL23A1, CPEB4, CPLX2, CREBRF, DBN1, DDX41, DOK3, DRD1, DUSP1, EFCAB9, EIF4E1B, ERGIC1, F12, FAF2, FAM153A, FAM153B, FAM193B, FBXW11, FGF18, FGFR4, FLT4, GFPT2, GPRIN1, GRK6, GRM6, HIGD2A, HK3, HNRNPAB, HNRNPH1, HRH2, KIAA1191, LMAN2, LOC100288254, LTC4S, MAML1, MAPK9, MGAT1, MGAT4B, MRNIP, MSX2, MXD3, N4BP3, NEURL1B, NHP2, NKX2-5, NOP16, NPM1, NSD1, OR2V1, OR2V2, OR2Y1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, RAB24, RACK1, RASGEF1C, RGS14, RMND5B, RNF130, RNF44, RPL26L1, RUFY1, SCGB3A1, SFXN1, SH3PXD2B, SIMC1, SLC34A1, SMIM23, SNCB, SNORA74B, SQSTM1, STC2, STK10, TBC1D9B, THOC3, TMED9, TRIM41, TRIM52, TRIM7, TRK-CTT2-3, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSPAN17, UBTD2, UIMC1, UNC5A, ZFP2, ZFP62, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 1 0 0 0 1
ALDH7A1, LMNB1, LMNB1-DT, LOC112997555, LOC129389358, LOC129389359, LOC129994503, LOC129994504, LOC129994505, PHAX, SPMIP10 1 0 0 0 1
CDHR2, EIF4E1B, FAF2, FGFR4, GPRIN1, HK3, LINC01574, LMAN2, LOC109279841, LOC110121241, LOC114004391, LOC121099715, LOC121099716, LOC121740633, LOC123575630, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC129389417, LOC129389418, LOC129389419, LOC129995341, LOC129995342, LOC129995343, LOC129995344, LOC129995345, LOC129995346, LOC129995347, LOC129995348, LOC129995349, LOC129995350, LOC129995351, LOC129995352, LOC129995353, LOC129995354, LOC129995355, LOC129995356, LOC129995357, LOC129995358, LOC129995359, LOC129995360, LOC129995361, LOC129995362, LOC129995363, LOC129995364, LOC129995365, LOC129995366, LOC129995367, LOC129995368, LOC129995369, LOC129995370, LOC129995371, LOC129995372, LOC129995373, LOC129995374, LOC129995375, LOC129995376, LOC129995377, LOC129995378, MIR4281, MXD3, NSD1, PRELID1, RAB24, RGS14, RNF44, SNCB, TSPAN17, UIMC1, UNC5A, ZNF346 1 0 0 0 1
FGFR4, LMAN2, MXD3, NSD1, PRELID1, RAB24 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 18 2 23 43
Baylor Genetics 0 2 0 0 2
OMIM 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1

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