ClinVar Miner

Variants studied for partial deletion of chromosome 11

Included ClinVar conditions (11):
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
78 13 802 558 77 1 1516

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
WT1 47 9 359 334 21 1 764
LOC107982234, WT1 16 1 404 214 12 0 642
ELP4, PAX6 2 0 29 5 37 0 73
PAX6 1 1 6 5 6 0 19
LOC106014249, PAX6 0 0 4 0 1 0 5
FLI1 0 2 0 0 0 0 2
LOC106707172, LOC107982234, LOC130005479, WT1 2 0 0 0 0 0 2
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, BLID, BSX, CCDC15, CDON, CHEK1, CLMP, CRTAM, DCPS, DDX25, EI24, ESAM, ETS1, FAM118B, FEZ1, FLI1, FOXRED1, GLB1L2, GLB1L3, GRAMD1B, GRIK4, HEPACAM, HEPN1, HSPA8, HYLS1, IGSF9B, JAM3, JHY, KCNJ1, KCNJ5, KIRREL3, LINC02743, LINC02873, LOC101929473, MIR100, MIR125B1, MIRLET7A2, MSANTD2, NCAPD3, NFRKB, NRGN, NTM, OPCML, OR10G4, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, PANX3, PATE1, PATE2, PATE3, PATE4, PKNOX2, PRDM10, PUS3, ROBO3, ROBO4, RPUSD4, SC5D, SCN3B, SIAE, SLC37A2, SNX19, SORL1, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, TBCEL, TBRG1, TECTA, THYN1, TIRAP, TMEM218, TMEM225, TMEM45B, TP53AIP1, UBASH3B, VPS26B, VSIG2, VWA5A, ZBTB44, ZNF202 1 0 0 0 0 0 1
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, CCDC15, CDON, CHEK1, DCPS, DDX25, EI24, ESAM, ETS1, FAM118B, FEZ1, FLI1, FOXRED1, GLB1L2, GLB1L3, HEPACAM, HEPN1, HYLS1, IGSF9B, JAM3, KCNJ1, KCNJ5, KIRREL3, LINC02714, LINC02743, LINC02873, LOC101929473, MSANTD2, NCAPD3, NFRKB, NRGN, NTM, OPCML, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, PANX3, PATE1, PATE2, PATE3, PATE4, PKNOX2, PRDM10, PUS3, ROBO3, ROBO4, RPUSD4, SIAE, SLC37A2, SNX19, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, TBRG1, THYN1, TIRAP, TMEM218, TMEM45B, TP53AIP1, VPS26B, VSIG2, ZBTB44 1 0 0 0 0 0 1
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, CDON, CHEK1, DCPS, DDX25, EI24, ETS1, FAM118B, FLI1, FOXRED1, GLB1L2, GLB1L3, HYLS1, IGSF9B, JAM3, KCNJ1, KCNJ5, KIRREL3, LINC02714, LINC02743, LINC02873, LOC101929473, NCAPD3, NFRKB, NTM, OPCML, PATE1, PATE2, PATE3, PATE4, PRDM10, PUS3, RPUSD4, SNX19, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, THYN1, TIRAP, TMEM45B, TP53AIP1, VPS26B, ZBTB44 1 0 0 0 0 0 1
ACAD8, GLB1L3, IGSF9B, JAM3, LINC02743, NCAPD3, OPCML, SPATA19, THYN1, VPS26B 1 0 0 0 0 0 1
ACCS, ACCSL, ALKBH3, ALX4, C11orf96, CD82, EXT2, HSD17B12, TSPAN18 1 0 0 0 0 0 1
ANO3, ANO5, ARL14EP, BBOX1, BDNF, CCDC179, CCDC34, CCDC73, CSTF3, DCDC1, DEPDC7, DNAJC24, EIF3M, ELP4, FANCF, FIBIN, FSHB, GAS2, IMMP1L, KCNA4, KIF18A, LGR4, LIN7C, LINC00294, LUZP2, METTL15, MIR610, MPPED2, MUC15, NELL1, PAX6, PRRG4, QSER1, RCN1, SLC17A6, SLC5A12, SVIP, TCP11L1, WT1 1 0 0 0 0 0 1
ANO9, B4GALNT4, CDHR5, DEAF1, DRD4, EPS8L2, HRAS, IFITM1, IFITM2, IFITM3, IFITM5, IRF7, LMNTD2, LRRC56, MIR210, MIR210HG, NLRP6, PGGHG, PHRF1, PKP3, PTDSS2, RASSF7, RNH1, SCT, SIGIRR, TALDO1, TMEM80 1 0 0 0 0 0 1
ARL14EP, CCDC73, DCDC1, DNAJC24, EIF3M, ELP4, FSHB, IMMP1L, KCNA4, MPPED2, PAX6, RCN1, WT1 1 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 1
ETS1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 65 10 732 541 33 0 1381
Illumina Laboratory Services, Illumina 0 0 61 12 44 0 117
Fulgent Genetics, Fulgent Genetics 6 0 36 16 0 0 58
Baylor Genetics 3 0 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 2 0 0 0 0 2
Department of Genetics, Fundacion Jimenez Diaz University Hospital 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
UCSD Department of Pediatrics, University of California, San Diego 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1

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