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  2. KDR

KDR

Analyte Export to PDF
Name:
kinase insert domain receptor
Symbol:
KDR
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
CD309
FLK1
VEGFR
VEGFR2
fetal liver kinase 1
vascular endothelial growth factor receptor 2
XREF(s):
Orphanet
Reactome
SwissProt
Ensembl
Genatlas
HGNC
OMIM
Created:
20 Aug 2021 - 01:08
Changed:
22 Jun 2023 - 16:14
  • Congenital structural heart defects - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AATK 99.98 1
    ABL1 100.00 1
    ACAN 91.51 1
    ACTA1 99.99 1
    ACTB 100.00 1
    ACTC1 98.57 1
    ACTG1 100.00 1
    ACTN2 99.99 1
    ACVR1 99.94 1
    ACVR1B 99.99 1
    ACVR2A 99.15 1
    ACVR2B 99.99 1
    ACVRL1 99.88 1
    ADAMTS10 99.99 1
    ADNP 100.00 1
    AKAP12 100.00 1
    AKT1 100.00 1
    AKT2 99.85 1
    ALDH1A2 99.97 1
    ALX3 99.74 1
    ANKRD1 99.57 1
    ANKRD11 99.85 1
    AP1B1 99.99 1
    APAF1 98.70 1
    AR 99.76 1
    ARHGAP31 100.00 1
    ARID4A 99.90 1
    ATP2A2 99.98 1
    ATRX 99.44 1
    AXIN1 100.00 1
    BCOR 99.97 1
    BMP10 99.96 1
    BMP2 99.79 1
    BMP4 100.00 1
    BMP6 100.00 1
    BMP7 100.00 1
    BMPR1A 99.58 1
    BMPR2 99.95 1
    BRAF 99.78 1
    BRIP1 99.39 1
    BVES 99.83 1
    CASQ2 94.39 1
    CAV1 99.97 1
    CAV3 100.00 1
    CBL 99.95 1
    CCDC103 99.68 1
    CCDC39 99.74 1
    CCDC40 100.00 1
    CCDC65 99.80 1
    CCN1 99.99 1
    CCNO 100.00 1
    CD96 99.91 1
    CDK13 99.83 1
    CDK4 100.00 1
    CDX2 100.00 1
    CENPF 99.97 1
    CFAP53 99.95 1
    CFC1 21.93 1
    CHAC2 99.68 1
    CHD4 99.99 1
    CHD7 99.99 1
    CHD8 99.96 1
    CITED2 100.00 1
    COL1A1 99.90 1
    COL1A2 99.34 1
    COL2A1 99.87 1
    COX7B 99.86 1
    CREBBP 99.97 1
    CRELD1 99.99 1
    CRIP2 99.99 1
    CRYAB 100.00 1
    CSNK1D 99.99 1
    CSRP1 99.75 1
    CSRP3 100.00 1
    CTNNB1 99.95 1
    DDX3X 99.01 1
    DES 100.00 1
    DIAPH3 99.85 1
    DICER1 99.96 1
    DLGAP5 99.83 1
    DLL1 99.99 1
    DLL4 100.00 1
    DNAAF1 99.99 1
    DNAAF11 99.80 1
    DNAAF2 99.91 1
    DNAAF3 99.99 1
    DNAAF4 99.78 1
    DNAAF5 99.99 1
    DNAH11 99.93 1
    DNAH5 99.98 1
    DNAI1 99.92 1
    DNAI2 99.86 1
    DNAJB13 99.91 1
    DNAH9 99.79 1
    DRC1 99.93 1
    DSCAM 99.99 1
    DVL1 100.00 1
    DYRK1A 99.98 1
    E2F1 99.99 1
    ECE1 99.92 1
    EDNRA 99.97 1
    EFEMP2 99.94 1
    EFNB1 99.95 1
    EFTUD2 99.93 1
    EGFR 99.68 1
    EGR1 99.99 1
    EHMT1 98.38 1
    ELN 99.86 1
    ENG 100.00 1
    EOGT 99.09 1
    EP300 99.97 1
    EPHB2 99.86 1
    EPHB4 99.82 1
    ERBB2 99.98 1
    ERCC4 99.92 1
    ESR2 99.96 1
    ETS1 99.99 1
    EVC 99.95 1
    EVC2 99.97 1
    EWSR1 99.94 1
    EZH2 99.89 1
    F2R 99.98 1
    FABP3 99.87 1
    FADD 99.97 1
    FANCA 100.00 1
    FANCB 99.24 1
    FANCC 99.98 1
    FANCD2 99.86 1
    FANCE 99.99 1
    FANCF 100.00 1
    FANCG 100.00 1
    FANCI 99.96 1
    FANCL 99.67 1
    FBLN1 98.69 1
    FBLN7 99.95 1
    FBN1 99.85 1
    FBN2 99.90 1
    FGF10 99.95 1
    FGF8 100.00 1
    FGFR1 100.00 1
    FGFR2 99.99 1
    FGFR3 100.00 1
    FHL2 100.00 1
    FIBP 99.83 1
    FLII 100.00 1
    FLNA 99.99 1
    FLNC 99.99 1
    FLT1 99.99 1
    FLT4 97.93 1
    FN1 99.95 1
    FOXC1 100.00 1
    FOXC2 100.00 1
    FOXH1 100.00 1
    FOXK2 99.76 1
    FOXL1 100.00 1
    FOXL2 99.97 1
    FOXO1 100.00 1
    FOXP1 99.98 1
    FSCN2 100.00 1
    G6PC3 99.98 1
    GAS8 100.00 1
    GATA2 99.99 1
    GATA4 99.99 1
    GATA5 100.00 1
    GATA6 99.90 1
    GATAD2B 99.44 1
    GDF1 100.00 1
    GDF11 99.97 1
    GDF5 100.00 1
    GDNF 99.99 1
    GJA1 100.00 1
    GJA5 100.00 1
    GJD2 99.99 1
    GLB1 100.00 1
    GLI2 99.93 1
    GLI3 100.00 1
    GPC3 99.60 1
    GPC5 99.96 1
    GPC6 99.98 1
    GRK5 99.97 1
    GTF2I 47.18 1
    GTF2IRD1 99.77 1
    HAND1 99.99 1
    HAND2 99.97 1
    HDAC8 99.74 1
    HES4 100.00 1
    HEY2 99.75 1
    HIF1A 99.87 1
    HMGB2 99.99 1
    HNF1A 100.00 1
    HNF4A 100.00 1
    HOXA1 100.00 1
    HOXB2 99.99 1
    HRAS 100.00 1
    HSPB1 99.97 1
    HSPB8 100.00 1
    HSPG2 99.87 1
    HYDIN 81.28 1
    ID2 100.00 1
    IGF1R 100.00 1
    IGFBP4 99.85 1
    IKBKB 99.93 1
    ILK 100.00 1
    INHBA 99.98 1
    INHBC 99.99 1
    INPP5D 99.98 1
    INSR 99.99 1
    IRS1 100.00 1
    IRX4 99.99 1
    ISL1 99.99 1
    ITGAV 99.40 1
    ITGB1 99.96 1
    ITGB3 99.83 1
    ITGB4 99.99 1
    JAG1 100.00 1
    JAM3 100.00 1
    JUN 100.00 1
    KANSL1 99.85 1
    KAT6A 99.93 1
    KAT6B 99.79 1
    KDM3B 99.98 1
    KDM5A 99.90 1
    KDM5B 97.15 1
    KDM6A 99.74 1
    KDR 99.86 1
    KIT 99.86 1
    KMT2D 99.98 1
    KRAS 99.13 1
    KREMEN1 99.88 1
    LAMA2 99.95 1
    LAMA5 99.99 1
    LAMC1 99.55 1
    LBR 99.66 1
    LEFTY1 99.98 1
    LEFTY2 100.00 1
    LHX3 99.99 1
    LMNA 99.96 1
    LMX1B 100.00 1
    LRP2 99.86 1
    LTBP1 99.95 1
    LTBP3 99.96 1
    LZTR1 99.46 1
    MAFG 100.00 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MAPK14 99.95 1
    MCTP2 99.99 1
    MECOM 99.97 1
    MED13L 99.99 1
    MEF2C 99.57 1
    MEGF8 99.90 1
    MESP1 100.00 1
    MET 99.97 1
    METTL3 99.98 1
    MGP 99.95 1
    MID1 99.90 1
    MITF 99.98 1
    MMP2 99.96 1
    MMP21 99.99 1
    MSX1 100.00 1
    MTHFD1 100.00 1
    MTHFR 99.97 1
    MTRR 99.98 1
    MYBPC3 99.98 1
    MYC 100.00 1
    MYH10 99.91 1
    MYH11 99.16 1
    MYH6 100.00 1
    MYH7 99.99 1
    MYH9 99.95 1
    MYL2 99.99 1
    MYL3 99.99 1
    MYL7 99.95 1
    MYOCD 99.99 1
    MYOM1 99.98 1
    MYOZ2 99.99 1
    NF1 99.88 1
    NFATC1 100.00 1
    NFIX 99.99 1
    NFKB1 99.80 1
    NID2 99.97 1
    NIPBL 99.34 1
    NKX2-1 100.00 1
    NKX2-5 99.75 1
    NKX2-6 100.00 1
    NME8 99.83 1
    NNMT 100.00 1
    NODAL 99.98 1
    NONO 99.94 1
    NOS3 93.73 1
    NOTCH1 99.98 1
    NOTCH2 99.03 1
    NOTCH3 99.99 1
    NPHP3 99.89 1
    NPHP4 99.98 1
    NPPA 100.00 1
    NR2F2 100.00 1
    NR4A2 99.97 1
    NRAS 99.66 1
    NRP1 99.99 1
    NRP2 99.98 1
    NSD1 99.98 1
    ODAD1 96.04 1
    ODAD2 98.19 1
    ODAD3 99.96 1
    ODAD4 99.85 1
    OTX2 100.00 1
    PACS1 99.96 1
    PAX3 100.00 1
    PCSK5 99.97 1
    PDGFC 99.97 1
    PDGFRA 99.94 1
    PDGFRB 99.99 1
    PDHX 100.00 1
    PIGA 99.81 1
    PIGL 99.98 1
    PIGN 99.91 1
    PIGT 99.95 1
    PITX2 99.98 1
    PKD1L1 99.84 1
    PLAGL1 99.96 1
    PLAT 99.99 1
    POU5F1 100.00 1
    PPARG 99.96 1
    PPARGC1A 99.82 1
    PPP3CA 99.84 1
    PRKACA 99.95 1
    PRKD1 99.96 1
    PROX1 99.98 1
    PRRX1 99.56 1
    PSEN1 100.00 1
    PSEN2 99.97 1
    PTEN 99.89 1
    PTK2 99.97 1
    PTP4A3 99.99 1
    PTPN11 99.98 1
    PUF60 100.00 1
    RAB23 99.97 1
    RAD21 99.91 1
    RAD51C 99.02 1
    RAF1 99.97 1
    RAI1 99.22 1
    RAI2 99.98 1
    RARB 99.99 1
    RARG 99.98 1
    RB1 99.84 1
    RBBP7 99.87 1
    RBL2 99.44 1
    RBM10 99.98 1
    RBM8A 99.37 1
    RELA 99.99 1
    RERE 99.94 1
    RET 99.97 1
    RGS19 99.88 1
    RIT1 99.78 1
    RNF20 99.93 1
    ROR2 99.99 1
    RPGR 94.45 1
    RPL11 99.81 1
    RPL15 31.77 1
    RPL26 30.55 1
    RPL35A 97.55 1
    RPL5 28.81 1
    RPS10 0.00 1
    RPS17 100.00 1
    RPS19 100.00 1
    RPS24 91.48 1
    RPS26 8.99 1
    RPS28 100.00 1
    RPS29 99.96 1
    RPS7 88.50 1
    RSPH1 99.87 1
    RSPH3 99.94 1
    RSPH4A 99.95 1
    RSPH9 99.99 1
    RYR2 99.94 1
    SALL1 100.00 1
    SALL4 100.00 1
    SCN5A 100.00 1
    SESN1 99.95 1
    SF3B4 99.65 1
    SGCA 100.00 1
    SH3PXD2B 100.00 1
    SHH 100.00 1
    SHOC2 99.96 1
    HHAT 99.98 1
    SLC19A1 99.99 1
    SLC25A4 100.00 1
    SLC2A10 100.00 1
    SLX4 100.00 1
    SMAD2 99.92 1
    SMAD3 99.99 1
    SMAD4 99.97 1
    SMAD6 100.00 1
    SMARCE1 99.87 1
    SMC1A 99.98 1
    SMC3 99.91 1
    SMG9 99.99 1
    SOS1 99.68 1
    SOS2 99.39 1
    SOX2 100.00 1
    SOX4 99.36 1
    SP1 99.98 1
    SPAG1 99.78 1
    SPATC1L 99.99 1
    SPECC1L 99.98 1
    SRCAP 99.99 1
    SRF 99.99 1
    STAT3 99.97 1
    STRA6 99.95 1
    SUZ12 98.58 1
    TAB2 99.75 1
    TBX1 99.95 1
    TBX2 99.97 1
    TBX20 99.99 1
    TBX3 100.00 1
    TBX5 99.98 1
    TBX6 99.99 1
    TCAP 100.00 1
    TCF21 100.00 1
    TCF3 100.00 1
    TCN2 100.00 1
    CRIPTO 99.82 1
    TEAD1 99.97 1
    TEK 99.98 1
    TFAP2A 100.00 1
    TFAP2B 99.98 1
    TFAP2C 100.00 1
    TGFB1 100.00 1
    TGFB2 99.87 1
    TGFB3 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    TGIF1 100.00 1
    THBS1 100.00 1
    THBS4 100.00 1
    THOC5 99.90 1
    THRB 99.82 1
    DDR2 97.39 1
    TLL1 99.94 1
    TNFRSF11A 100.00 1
    TNFRSF1A 100.00 1
    TNNI3 100.00 1
    TNNT2 99.87 1
    TNR 99.80 1
    TP53 99.98 1
    TP73 100.00 1
    TPM1 99.92 1
    TRPM2 99.99 1
    TSR2 99.96 1
    TTN 99.15 1
    TWIST1 100.00 1
    UBE2B 99.94 1
    UBE2T 99.89 1
    USP44 99.86 1
    USP9X 99.84 1
    VCAN 99.99 1
    VDR 99.86 1
    VEGFA 99.99 1
    VEGFC 99.96 1
    WASHC5 99.98 1
    WDR5 100.00 1
    WNT11 100.00 1
    WT1 99.99 1
    YY1 100.00 1
    ZEB2 99.97 1
    ZFHX3 99.96 1
    ZFPM2 100.00 1
    ZIC3 99.90 1
    ZMYND10 99.99 1
  • Maffucci syndrome (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 0.00 0 Only hotspots in the gene
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    APC 0.00 0 Only hotspots in the gene
    ATM 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    BRCA1 0.00 0 Only hotspots in the gene
    BRCA2 0.00 0 Only hotspots in the gene
    CDH1 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CSF1R 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    DNMT3A 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB3 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    EZH2 0.00 0 Only hotspots in the gene
    FBXW7 0.00 0 Only hotspots in the gene
    FGFR1 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    FLT3 0.00 0 Only hotspots in the gene
    FOXL2 0.00 0 Only hotspots in the gene
    GNA11 0.00 0 Only hotspots in the gene
    GNAQ 0.00 0 Only hotspots in the gene
    GNAS 0.00 0 Only hotspots in the gene
    HNF1A 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    JAK2 0.00 0 Only hotspots in the gene
    JAK3 0.00 0 Only hotspots in the gene
    KDR 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    MLH1 0.00 0 Only hotspots in the gene
    MPL 0.00 0 Only hotspots in the gene
    MSH6 0.00 0 Only hotspots in the gene
    MTOR 0.00 0 Only hotspots in the gene
    NF1 0.00 0 Only hotspots in the gene
    NF2 0.00 0 Only hotspots in the gene
    NOTCH1 0.00 0 Only hotspots in the gene
    NPM1 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTCH1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    PTPN11 0.00 0 Only hotspots in the gene
    RB1 0.00 0 Only hotspots in the gene
    RET 0.00 0 Only hotspots in the gene
    SMAD4 0.00 0 Only hotspots in the gene
    SMARCB1 0.00 0 Only hotspots in the gene
    SMO 0.00 0 Only hotspots in the gene
    SRC 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene
    TERT 0.00 0 Only hotspots in the gene
    TP53 0.00 0 Only hotspots in the gene
    TSC1 0.00 0 Only hotspots in the gene
    VHL 0.00 0 Only hotspots in the gene
  • Overgrowth & vascular anomalies (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 0.00 0 Only hotspots in the gene
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    APC 0.00 0 Only hotspots in the gene
    ATM 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    BRCA1 0.00 0 Only hotspots in the gene
    BRCA2 0.00 0 Only hotspots in the gene
    CDH1 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CSF1R 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    DNMT3A 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB3 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    EZH2 0.00 0 Only hotspots in the gene
    FBXW7 0.00 0 Only hotspots in the gene
    FGFR1 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    FLT3 0.00 0 Only hotspots in the gene
    FOXL2 0.00 0 Only hotspots in the gene
    GNA11 0.00 0 Only hotspots in the gene
    GNAQ 0.00 0 Only hotspots in the gene
    GNAS 0.00 0 Only hotspots in the gene
    HNF1A 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    JAK2 0.00 0 Only hotspots in the gene
    JAK3 0.00 0 Only hotspots in the gene
    KDR 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    MLH1 0.00 0 Only hotspots in the gene
    MPL 0.00 0 Only hotspots in the gene
    MSH6 0.00 0 Only hotspots in the gene
    MTOR 0.00 0 Only hotspots in the gene
    NF1 0.00 0 Only hotspots in the gene
    NF2 0.00 0 Only hotspots in the gene
    NOTCH1 0.00 0 Only hotspots in the gene
    NPM1 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTCH1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    PTPN11 0.00 0 Only hotspots in the gene
    RB1 0.00 0 Only hotspots in the gene
    RET 0.00 0 Only hotspots in the gene
    SMAD4 0.00 0 Only hotspots in the gene
    SMARCB1 0.00 0 Only hotspots in the gene
    SMO 0.00 0 Only hotspots in the gene
    SRC 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene
    TERT 0.00 0 Only hotspots in the gene
    TP53 0.00 0 Only hotspots in the gene
    TSC1 0.00 0 Only hotspots in the gene
    VHL 0.00 0 Only hotspots in the gene
  • Primary Arterial Hypertension (19 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACVRL1 100.00 0 NM_000020.2
    AQP1 100.00 0 NM_198098.3
    ATP13A3 100.00 0 NM_024524.3
    BMPR1B 100.00 0 NM_001203.2
    BMPR2 100.00 0 NM_001204.6
    CAV1 100.00 0 NM_001753.4
    EIF2AK4 100.00 0 NM_001013703.3
    ENG 100.00 0 NM_000118.3
    EPHB4 100.00 0 NM_004444.4
    GDF2 100.00 0 NM_016204.3
    KCNA5 100.00 0 NM_002234.3
    KCNK3 100.00 0 NM_002246.2
    KDR 100.00 0 NM_002253.3
    RASA1 100.00 0 NM_002890.3
    SMAD4 100.00 0 NM_005359.5
    SMAD9 100.00 0 NM_001127217.2
    SOX17 100.00 0 NM_022454.3
    TBX4 100.00 0 NM_018488.3
    SMAD1 100.00 0 NM_005900.3
  • Respiratory Disorders panel (137 genes) - Ugent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA3 99.96 1
    ABCC8 99.98 1
    ACVRL1 99.88 1
    AP3B1 99.89 1
    AQP1 99.99 1
    ARHGEF1 99.97 1
    ASAH1 99.90 1
    ASCL1 99.82 1
    ATP13A3 99.84 1
    ATP6AP1 100.00 1
    BDNF 100.00 1
    BLOC1S3 100.00 1
    BLOC1S6 99.98 1
    BMP10 99.96 1
    BMPR1B 99.61 1
    BMPR2 99.95 1
    CARD11 99.97 1
    CAV1 99.97 1
    CCDC39 99.74 1
    CCDC40 100.00 1
    CD19 99.98 1
    CD81 99.97 1
    CIITA 99.99 1
    CLEC1A 99.97 1
    CLEC7A 99.98 1
    COPA 99.61 1
    CR2 99.97 1
    CSF2RA 93.86 1
    CSF2RB 100.00 1
    CTLA4 99.99 1
    CTNNBL1 100.00 1
    DKC1 99.59 1
    DNAAF1 99.99 1
    DNAAF2 99.91 1
    DNAH11 99.93 1
    DNAH5 99.98 1
    DNAI1 99.92 1
    DNAI2 99.86 1
    DNAH9 99.79 1
    DOCK8 99.86 1
    DTNBP1 99.89 1
    EFEMP2 99.94 1
    EIF2AK4 99.97 1
    ELMOD2 99.80 1
    ELN 99.86 1
    ENG 100.00 1
    ERBIN 99.69 1
    FAM111B 99.98 1
    FARSA 100.00 1
    FARSB 99.64 1
    FBLN5 100.00 1
    FLNA 99.99 1
    FNIP1 99.87 1
    FOXF1 99.99 1
    FOXP3 99.93 1
    GARS1 99.93 1
    GATA2 99.99 1
    GBA1 96.92 1
    GDF2 100.00 1
    HPS1 100.00 1
    HPS3 99.91 1
    HPS4 99.98 1
    HPS5 99.91 1
    HPS6 100.00 1
    IKZF1 99.92 1
    IL6R 92.46 1
    IL6ST 99.88 1
    IRF2BP2 100.00 1
    ITCH 95.57 1
    ITGA3 99.86 1
    KCNA5 100.00 1
    KCNK3 100.00 1
    KDR 99.86 1
    LRBA 99.76 1
    LTBP4 99.99 1
    MARS1 99.97 1
    MOGS 100.00 1
    MS4A1 99.60 1
    MUC5B 99.94 1
    NFKB1 99.80 1
    NFKB2 99.98 1
    NKX2-1 100.00 1
    NME8 99.83 1
    NOD2 99.98 1
    NOTCH3 99.99 1
    NSMCE3 100.00 1
    OAS1 99.96 1
    PARN 99.75 1
    PGM3 99.94 1
    PIK3CD 99.99 1
    PIK3CG 99.72 1
    PIK3R1 99.86 1
    POU2AF1 99.43 1
    PTEN 99.89 1
    RAC2 99.99 1
    RFX5 99.88 1
    RFXANK 100.00 1
    RFXAP 99.98 1
    RGPD4 71.96 1
    RSPH4A 99.95 1
    RSPH9 99.99 1
    RTEL1 100.00 1
    SCNN1A 100.00 1
    SCNN1B 99.38 1
    SCNN1G 99.94 1
    SEC61A1 99.99 1
    SERPINA1 100.00 1
    SFTPA1 99.99 1
    SFTPA2 99.81 1
    SFTPB 99.99 1
    SFTPC 99.99 1
    SFTPD 99.62 1
    SH3KBP1 99.95 1
    SLC34A2 99.99 1
    SLC7A7 99.99 1
    SMAD4 99.97 1
    SMAD9 99.99 1
    SMPD1 100.00 1
    SOX17 100.00 1
    SPINK5 99.91 1
    STAT3 99.97 1
    STAT5B 99.50 1
    STING1 99.87 1
    TBX4 99.96 1
    TERC 98.59 1
    TERT 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    TINF2 100.00 1
    TNFRSF13B 99.43 1
    TNFRSF13C 99.99 1
    TNFSF12 100.00 1
    TNFSF13 100.00 1
    TRNT1 99.97 1
    TSC1 99.99 1
    TSC2 99.98 1
    ZNF341 100.00 1
  • Sturge-Weber syndrome (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 0.00 0 Only hotspots in the gene
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    APC 0.00 0 Only hotspots in the gene
    ATM 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    BRCA1 0.00 0 Only hotspots in the gene
    BRCA2 0.00 0 Only hotspots in the gene
    CDH1 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CSF1R 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    DNMT3A 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB3 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    EZH2 0.00 0 Only hotspots in the gene
    FBXW7 0.00 0 Only hotspots in the gene
    FGFR1 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    FLT3 0.00 0 Only hotspots in the gene
    FOXL2 0.00 0 Only hotspots in the gene
    GNA11 0.00 0 Only hotspots in the gene
    GNAQ 0.00 0 Only hotspots in the gene
    GNAS 0.00 0 Only hotspots in the gene
    HNF1A 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    JAK2 0.00 0 Only hotspots in the gene
    JAK3 0.00 0 Only hotspots in the gene
    KDR 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    MLH1 0.00 0 Only hotspots in the gene
    MPL 0.00 0 Only hotspots in the gene
    MSH6 0.00 0 Only hotspots in the gene
    MTOR 0.00 0 Only hotspots in the gene
    NF1 0.00 0 Only hotspots in the gene
    NF2 0.00 0 Only hotspots in the gene
    NOTCH1 0.00 0 Only hotspots in the gene
    NPM1 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTCH1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    PTPN11 0.00 0 Only hotspots in the gene
    RB1 0.00 0 Only hotspots in the gene
    RET 0.00 0 Only hotspots in the gene
    SMAD4 0.00 0 Only hotspots in the gene
    SMARCB1 0.00 0 Only hotspots in the gene
    SMO 0.00 0 Only hotspots in the gene
    SRC 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene
    TERT 0.00 0 Only hotspots in the gene
    TP53 0.00 0 Only hotspots in the gene
    TSC1 0.00 0 Only hotspots in the gene
    VHL 0.00 0 Only hotspots in the gene