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  2. EGFR

EGFR

Analyte Export to PDF
Name:
epidermal growth factor receptor
Symbol:
EGFR
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
ERBB1
ERRP
erb-b2 receptor tyrosine kinase 1
erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
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
  • Nephropathy panel - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 99.98 1
    ACTG2 99.99 1
    ACTN4 100.00 1
    ADAMTS13 100.00 1
    ADAMTS9 99.94 1
    ADCY10 99.77 1
    AGXT 100.00 1
    AGTR1 99.97 1
    AHI1 99.86 1
    ALDOB 100.00 1
    ALG1 86.66 1
    ALG8 95.49 1
    ALG9 99.73 1
    ALMS1 99.90 1
    ALPL 99.88 1
    ABCD1 100.00 1
    ANKS6 100.00 1
    ANLN 99.85 1
    ANOS1 99.96 1
    AP2S1 99.98 1
    APOA1 100.00 1
    APOA2 99.84 1
    APOL1 99.99 1
    APRT 100.00 1
    AQP2 100.00 1
    ARHGAP24 99.86 1
    ARHGDIA 100.00 1
    ARL13B 99.53 1
    ARL6 99.90 1
    ARSA 99.99 1
    ATP6V0A4 99.93 1
    ATP6V1B1 99.98 1
    ATP7B 100.00 1
    NLRP3 100.00 1
    AVPR2 100.00 1
    B9D1 99.80 1
    B9D2 99.88 1
    BBIP1 99.99 1
    BBS1 100.00 1
    BBS10 99.98 1
    BBS12 100.00 1
    BBS2 99.90 1
    BBS4 99.88 1
    BBS5 99.00 1
    BBS7 99.42 1
    BBS9 99.75 1
    BICC1 99.76 1
    BMP4 100.00 1
    BMP7 100.00 1
    BSND 99.92 1
    C3 100.00 1
    C5 99.92 1
    CA2 99.62 1
    CACNA1S 99.96 1
    CASR 99.99 1
    CC2D2A 99.95 1
    CCDC39 99.74 1
    CCNQ 99.98 1
    CD151 100.00 1
    CD2AP 99.69 1
    CD46 99.86 1
    CDC5L 99.83 1
    CDKN1C 100.00 1
    CEP104 99.99 1
    CEP120 99.90 1
    CEP164 99.99 1
    CEP290 98.10 1
    CEP41 99.99 1
    CEP83 98.68 1
    CFAP418 100.00 1
    CFB 99.97 1
    CFH 99.12 1
    CFHR1 84.44 1
    CFHR2 90.26 1
    CFHR3 91.62 1
    CFHR4 99.86 1
    CFHR5 99.68 1
    CFI 99.87 1
    CHD1L 98.53 1
    CHD7 99.99 1
    CHRM3 100.00 1
    CHRNA3 99.95 1
    CLCN5 99.67 1
    CLCN7 99.99 1
    CLCNKA 99.98 1
    CLCNKB 99.98 1
    CLDN10 99.97 1
    CLDN16 99.98 1
    CLDN19 99.02 1
    CNNM2 99.94 1
    COL4A1 99.99 1
    COL4A3 99.94 1
    COL4A4 99.95 1
    COL4A5 99.64 1
    COQ2 99.90 1
    COQ6 99.94 1
    COQ7 100.00 1
    COQ8A 100.00 1
    COQ8B 99.94 1
    COQ9 99.62 1
    CPLANE1 99.81 1
    CPT2 99.65 1
    CRB2 99.95 1
    CSPP1 98.31 1
    CTNS 100.00 1
    CUBN 99.99 1
    CUL3 99.76 1
    CYP11B2 100.00 1
    CYP24A1 100.00 1
    DAAM2 99.99 1
    DCDC2 99.96 1
    DGKE 99.10 1
    DMP1 99.99 1
    DNAJB11 99.97 1
    DSTYK 99.83 1
    DYNC2H1 99.66 1
    DYNC2I1 99.99 1
    DZIP1L 98.46 1
    EGF 99.96 1
    EGFR 99.68 1
    EHHADH 99.99 1
    EMP2 100.00 1
    ENPP1 99.88 1
    EVC 99.95 1
    EVC2 99.97 1
    EYA1 99.81 1
    FANCA 99.98 1
    FAHD2A 100.00 1
    FAM186B 99.99 1
    FAM20A 100.00 1
    FAN1 99.73 1
    FAT1 99.99 1
    FGA 99.98 1
    FGF20 99.71 1
    FGF23 100.00 1
    FGFR1 100.00 1
    FH 99.95 1
    FLCN 99.51 1
    FN1 99.95 1
    FRAS1 99.97 1
    FREM1 99.98 1
    FREM2 99.97 1
    FXYD2 100.00 1
    G6PC1 99.93 1
    GALNT3 99.52 1
    GALT 100.00 1
    GANAB 99.97 1
    GATA3 99.96 1
    GATM 99.92 1
    GDNF 99.99 1
    GLA 99.90 1
    GLI3 100.00 1
    GLIS2 100.00 1
    GNA11 99.99 1
    GON7 99.92 1
    GPC3 99.60 1
    GRHPR 99.93 1
    GRIP1 99.83 1
    GSN 99.93 1
    HNF1B 100.00 1
    HNF4A 100.00 1
    HOGA1 100.00 1
    HPRT1 97.80 1
    HPSE2 100.00 1
    HSD11B2 99.99 1
    IFT122 99.98 1
    IFT140 100.00 1
    IFT172 99.98 1
    IFT27 100.00 1
    IFT43 99.97 1
    IFT80 99.69 1
    IFT81 94.64 1
    INCENP 99.99 1
    INF2 99.99 1
    INPP5E 99.85 1
    INVS 99.94 1
    IQCB1 99.72 1
    ITGA3 99.86 1
    ITGA8 99.95 1
    ITGB4 99.99 1
    JAG1 100.00 1
    KANK1 99.99 1
    KANK2 99.99 1
    KANK4 99.70 1
    KCNA1 100.00 1
    KCNJ1 100.00 1
    KCNJ10 99.98 1
    KIAA0586 95.75 1
    KIF14 97.80 1
    KIF7 100.00 1
    KL 99.98 1
    KLHL3 99.97 1
    LAGE3 99.99 1
    LAMB2 99.99 1
    LMNA 99.96 1
    LMX1B 100.00 1
    LRIG2 97.97 1
    LRP2 99.86 1
    LRP5 99.95 1
    LRP6 99.91 1
    LYZ 99.86 1
    LZTFL1 100.00 1
    MAGED2 99.98 1
    MAGI2 99.89 1
    MAPKBP1 99.98 1
    MET 99.97 1
    MKKS 100.00 1
    MKS1 99.92 1
    MMACHC 99.98 1
    MUC1 99.98 1
    MYH9 99.95 1
    MYO1E 99.94 1
    NEIL1 99.99 1
    NEK1 99.83 1
    NEK9 99.99 1
    NOTCH2 99.03 1
    NPHP1 99.05 1
    NPHP3 99.89 1
    NPHP4 99.98 1
    NPHS1 99.97 1
    NPHS2 99.87 1
    NR3C2 100.00 1
    NUP107 97.46 1
    NUP133 99.45 1
    NUP205 99.92 1
    NUP93 99.87 1
    NXF5 96.29 1
    OCRL 99.89 1
    OFD1 99.68 1
    PAX2 99.99 1
    PAX8 99.99 1
    PBX1 99.88 1
    PCBD1 99.84 1
    PDE6D 99.94 1
    PDSS1 95.70 1
    PDSS2 99.87 1
    PHEX 99.83 1
    PKD1 99.98 1
    PKD2 99.91 1
    PKHD1 99.95 1
    PLCE1 99.98 1
    PLG 99.89 1
    PMM2 99.93 1
    PRKCSH 99.99 1
    PSAP 99.94 1
    PTEN 99.89 1
    PTPRO 99.91 1
    PYGM 99.96 1
    RBM48 99.09 1
    RCOR1 99.97 1
    REN 99.85 1
    RET 99.97 1
    ROBO2 99.80 1
    RPGRIP1 99.95 1
    RPGRIP1L 96.35 1
    RRM2B 99.97 1
    SALL1 100.00 1
    SALL4 100.00 1
    SARS2 99.99 1
    SCARB2 99.99 1
    SCNN1A 100.00 1
    SCNN1B 99.38 1
    SCNN1G 99.94 1
    SDCCAG8 100.00 1
    SDHB 97.32 1
    SDHD 82.93 1
    SEC61A1 99.99 1
    SEC63 99.84 1
    SGPL1 99.95 1
    SIX1 100.00 1
    SIX2 100.00 1
    SIX5 100.00 1
    SLC12A1 99.90 1
    SLC12A3 99.84 1
    SLC22A12 99.99 1
    SLC26A1 100.00 1
    SLC26A3 99.97 1
    SLC2A2 99.96 1
    SLC2A9 99.98 1
    SLC34A1 99.99 1
    SLC34A3 100.00 1
    SLC37A4 99.90 1
    SLC3A1 99.98 1
    SLC41A1 99.98 1
    SLC4A1 99.94 1
    SLC4A4 99.97 1
    SLC7A9 99.97 1
    NHERF1 100.00 1
    SMARCAL1 99.97 1
    SOX17 100.00 1
    SRGAP1 99.68 1
    STRADA 99.98 1
    STX16 100.00 1
    SYNPO 100.00 1
    TBC1D1 99.96 1
    TBC1D8B 99.31 1
    TBX18 99.50 1
    TCTN1 99.92 1
    TCTN2 99.99 1
    TCTN3 99.92 1
    THBD 100.00 1
    TMEM107 100.00 1
    TMEM138 100.00 1
    TMEM216 99.98 1
    TMEM231 88.88 1
    TMEM237 99.30 1
    TMEM67 99.69 1
    TNFRSF25 99.98 1
    TNXB 90.86 1
    TP53RK 81.09 1
    TRAP1 100.00 1
    TRIM32 100.00 1
    TRPC6 99.99 1
    TRPM6 99.93 1
    TSC1 99.99 1
    TSC2 99.98 1
    TTC21B 99.50 1
    TTC8 99.67 1
    UMOD 99.98 1
    UPK3A 100.00 1
    UPK3B 99.62 1
    VDR 99.86 1
    VHL 100.00 1
    VIPAS39 99.87 1
    VPS33B 99.95 1
    WDPCP 99.87 1
    WDR19 99.80 1
    WDR35 99.92 1
    WDR4 99.95 1
    WDR73 99.92 1
    WNK1 99.98 1
    WNK4 99.98 1
    WNT4 99.94 1
    WT1 99.99 1
    XDH 99.97 1
    XPNPEP3 99.99 1
    XPO5 99.89 1
    YRDC 99.85 1
    ZMPSTE24 98.70 1
    ZMYM2 99.88 1
    ZNF423 98.94 1
  • 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
  • Panel Nephro-ULG-V1
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 97.24 0 ,
    ACTG2 100.00 0 ,
    ACTN4 100.00 0 ,
    ADAMTS13 96.63 0 ,
    ADAMTS9 100.00 0 ,
    ADCY10 100.00 0 ,
    AGT 100.00 0 ,
    AGTR1 100.00 0 ,
    AGXT 100.00 0 ,
    ALDOB 100.00 0 ,
    ALG5 100.00 0 ,
    ALG8 100.00 0 ,
    ALG9 99.28 0 ,
    ALMS1 100.00 0 ,
    ALPL 100.00 0 ,
    AMN 86.23 0 ,
    ANKS6 91.46 0 ,
    ANLN 100.00 0 ,
    ANOS1 94.70 0 ,
    AP2S1 100.00 0 ,
    APOA1 100.00 0 ,
    APOL1 100.00 0 ,
    APRT 100.00 0 ,
    AQP2 100.00 0 ,
    ARHGAP24 99.80 0 ,
    ARHGDIA 100.00 0 ,
    ARL6 100.00 0 ,
    ATP6V0A4 100.00 0 ,
    ATP6V1B1 100.00 0 ,
    ATP7B 100.00 0 ,
    ATXN10 99.92 0 ,
    AVIL 100.00 0 ,
    AVPR2 100.00 0 ,
    B2M 100.00 0 ,
    B9D1 100.00 0 ,
    B9D2 100.00 0 ,
    BBIP1 100.00 0 ,
    BBS1 100.00 0 ,
    BBS10 100.00 0 ,
    BBS12 100.00 0 ,
    BBS2 100.00 0 ,
    BBS4 100.00 0 ,
    BBS5 100.00 0 ,
    BBS7 100.00 0 ,
    BBS9 100.00 0 ,
    BICC1 99.81 0 ,
    BMP4 100.00 0 ,
    BMP7 100.00 0 ,
    BNC2 100.00 0 ,
    BSND 100.00 0 ,
    C3 100.00 0 ,
    CA2 100.00 0 ,
    CASR 100.00 0 ,
    CC2D2A 100.00 0 ,
    CD151 100.00 0 ,
    CD2AP 100.00 0 ,
    CD46 100.00 0 ,
    CDC5L 100.00 0 ,
    CDC73 100.00 0 ,
    CENPF 100.00 0 ,
    CEP164 100.00 0 ,
    CEP290 99.95 0 ,
    CEP41 100.00 0 ,
    CEP55 100.00 0 ,
    CEP83 100.00 0 ,
    CFB 100.00 0 ,
    CFH 100.00 0 ,
    CFHR1 95.06 0 ,
    CFHR3 99.44 0 ,
    CFHR5 100.00 0 ,
    CFI 100.00 0 ,
    CHD1L 99.95 0 ,
    CHD7 100.00 0 ,
    CHRM3 100.00 0 ,
    CHRNA3 99.35 0 ,
    CLCN5 100.00 0 ,
    CLCNKA 100.00 0 ,
    CLCNKB 100.00 0 ,
    CLDN10 100.00 0 ,
    CLDN16 100.00 0 ,
    CLDN19 100.00 0 ,
    CNNM2 99.42 0 ,
    COL4A1 99.52 0 ,
    COL4A3 99.47 0 ,
    COL4A4 100.00 0 ,
    COL4A5 99.90 0 ,
    COL4A6 99.82 0 ,
    COQ2 95.50 0 ,
    COQ6 100.00 0 ,
    COQ8A 100.00 0 ,
    COQ8B 100.00 0 ,
    CRB2 94.59 0 ,
    CSPP1 100.00 0 ,
    CTNS 100.00 0 ,
    CTU2 98.44 0 ,
    CUBN 100.00 0 ,
    CUL3 100.00 0 ,
    CYP24A1 100.00 0 ,
    DAAM2 100.00 0 ,
    DCDC2 100.00 0 ,
    DGKE 100.00 0 ,
    DHCR7 99.99 0 ,
    DIS3L2 100.00 0 ,
    DMP1 100.00 0 ,
    DNAJB11 100.00 0 ,
    DSTYK 100.00 0 ,
    DYNC2H1 99.97 0 ,
    DZIP1L 100.00 0 ,
    EGF 100.00 0 ,
    EGFR 99.63 0 ,
    EHHADH 100.00 0 ,
    EMP2 100.00 0 ,
    EYA1 100.00 0 ,
    FAH 100.00 0 ,
    FAM20A 99.78 0 ,
    CCNQ 82.12 0 ,
    FAN1 100.00 0 ,
    FAT1 100.00 0 ,
    FGA 100.00 0 ,
    FGF20 99.13 0 ,
    FGF23 100.00 0 ,
    FH 100.00 0 ,
    FLCN 100.00 0 ,
    FN1 99.98 0 ,
    FRAS1 100.00 0 ,
    FREM1 100.00 0 ,
    FREM2 100.00 0 ,
    FXYD2 100.00 0 ,
    G6PC1 100.00 0 ,
    GALT 100.00 0 ,
    GANAB 100.00 0 ,
    GATA3 100.00 0 ,
    GATM 100.00 0 ,
    GLA 100.00 0 ,
    GLI3 100.00 0 ,
    GLIS2 100.00 0 ,
    GNA11 99.87 0 ,
    GPC3 99.84 0 ,
    GREB1L 100.00 0 ,
    GRHPR 100.00 0 ,
    GRIP1 100.00 0 ,
    GSN 100.00 0 ,
    HAAO 100.00 0 ,
    HNF1B 100.00 0 ,
    HNF4A 100.00 0 ,
    HOGA1 100.00 0 ,
    HOXA13 71.26 0 ,
    HPRT1 97.10 0 ,
    HPSE2 100.00 0 ,
    HSD11B2 78.40 0 ,
    IFT122 100.00 0 ,
    IFT140 99.96 0 ,
    IFT172 100.00 0 ,
    IFT27 100.00 0 ,
    IFT80 100.00 0 ,
    INF2 99.98 0 ,
    INVS 100.00 0 ,
    IQCB1 100.00 0 ,
    ITGA3 99.70 0 ,
    ITGA8 99.76 0 ,
    JAG1 99.83 0 ,
    KANK1 100.00 0 ,
    KANK2 100.00 0 ,
    KANK4 100.00 0 ,
    KCNA1 100.00 0 ,
    KCNJ1 100.00 0 ,
    KCNJ10 100.00 0 ,
    KCNJ16 100.00 0 ,
    KDM6A 99.90 0 ,
    KL 95.50 0 ,
    KLHL3 100.00 0 ,
    KMT2D 100.00 0 ,
    KYNU 99.98 0 ,
    LAMA5 98.59 0 ,
    LAMB2 100.00 0 ,
    LIFR 100.00 0 ,
    LMX1B 100.00 0 ,
    LRIG2 99.95 0 ,
    LRP2 100.00 0 ,
    LRP4 99.14 0 ,
    LRP5 97.83 0 ,
    LRP6 100.00 0 ,
    LYZ 100.00 0 ,
    LZTFL1 100.00 0 ,
    MAGED2 99.94 0 ,
    MAGI2 93.63 0 ,
    MAPKBP1 100.00 0 ,
    MET 100.00 0 ,
    MKKS 100.00 0 ,
    MKS1 100.00 0 ,
    MMACHC 100.00 0 ,
    MUC1 100.00 0 ,
    MYH9 100.00 0 ,
    MYO1E 100.00 0 ,
    MYOCD 100.00 0 ,
    NADSYN1 100.00 0 ,
    NEK8 100.00 0 ,
    NIPBL 100.00 0 ,
    NOTCH2 100.00 0 ,
    NPHP1 100.00 0 ,
    NPHP3 99.73 0 ,
    NPHP4 100.00 0 ,
    NPHS1 100.00 0 ,
    NPHS2 100.00 0 ,
    NR3C2 100.00 0 ,
    NRIP1 100.00 0 ,
    NUP107 100.00 0 ,
    NUP133 100.00 0 ,
    NUP160 100.00 0 ,
    NUP205 100.00 0 ,
    NUP85 100.00 0 ,
    NUP93 100.00 0 ,
    NXF5 0.00 0 ,
    OCRL 99.96 0 ,
    OFD1 100.00 0 ,
    PAX2 100.00 0 ,
    PBX1 100.00 0 ,
    PCBD1 92.70 0 ,
    PDE6D 100.00 0 ,
    PDSS2 100.00 0 ,
    PHEX 98.98 0 ,
    PKD1 96.86 0 ,
    PKD2 92.32 0 ,
    PKHD1 100.00 0 ,
    PLCE1 100.00 0 ,
    PLG 100.00 0 ,
    PLVAP 100.00 0 ,
    PMM2 100.00 0 ,
    PODXL 90.59 0 ,
    PRKCSH 100.00 0 ,
    PTPRO 100.00 0 ,
    REN 100.00 0 ,
    RET 99.35 0 ,
    ROBO1 100.00 0 ,
    ROBO2 100.00 0 ,
    ROR2 98.01 0 ,
    RPGRIP1L 99.18 0 ,
    RRAGD 99.90 0 ,
    RRM2B 100.00 0 ,
    SALL1 100.00 0 ,
    SARS2 100.00 0 ,
    SCARB2 100.00 0 ,
    SCNN1A 100.00 0 ,
    SCNN1B 100.00 0 ,
    SCNN1G 100.00 0 ,
    SDCCAG8 100.00 0 ,
    SDHB 100.00 0 ,
    SDHD 100.00 0 ,
    SEC61A1 100.00 0 ,
    SEC63 99.95 0 ,
    SGPL1 99.92 0 ,
    SIX1 100.00 0 ,
    SIX2 100.00 0 ,
    SIX5 93.51 0 ,
    SLC12A1 100.00 0 ,
    SLC12A3 100.00 0 ,
    SLC1A1 100.00 0 ,
    SLC22A12 100.00 0 ,
    SLC26A1 100.00 0 ,
    SLC26A3 100.00 0 ,
    SLC2A2 100.00 0 ,
    SLC2A9 100.00 0 ,
    SLC34A1 100.00 0 ,
    SLC34A3 100.00 0 ,
    SLC3A1 100.00 0 ,
    SLC41A1 100.00 0 ,
    SLC4A1 100.00 0 ,
    SLC4A4 100.00 0 ,
    SLC5A2 100.00 0 ,
    SLC6A19 100.00 0 ,
    SLC7A7 100.00 0 ,
    SLC7A9 100.00 0 ,
    NHERF1 100.00 0 ,
    SLIT2 99.95 0 ,
    SMARCAL1 100.00 0 ,
    SOX17 99.26 0 ,
    STRA6 100.00 0 ,
    STX16 100.00 0 ,
    TBC1D1 100.00 0 ,
    TBC1D8B 100.00 0 ,
    TBX18 99.84 0 ,
    TCTN2 100.00 0 ,
    TCTN3 100.00 0 ,
    TFAP2A 100.00 0 ,
    THBD 100.00 0 ,
    TMEM138 100.00 0 ,
    TMEM216 100.00 0 ,
    TMEM231 100.00 0 ,
    TMEM237 100.00 0 ,
    TMEM260 97.92 0 ,
    TMEM67 100.00 0 ,
    TRAP1 95.57 0 ,
    TRIM32 100.00 0 ,
    TRIM8 100.00 0 ,
    TRPC6 100.00 0 ,
    TRPM6 100.00 0 ,
    TSC1 100.00 0 ,
    TSC2 100.00 0 ,
    TTC21B 50.00 0 ,
    TTC8 100.00 0 ,
    TTR 100.00 0 ,
    TULP3 100.00 0 ,
    UMOD 100.00 0 ,
    UPK3A 100.00 0 ,
    VHL 100.00 0 ,
    VIPAS39 100.00 0 ,
    VPS33B 100.00 0 ,
    WBP11 100.00 0 ,
    WDPCP 100.00 0 ,
    WDR19 100.00 0 ,
    WDR35 100.00 0 ,
    WDR73 100.00 0 ,
    WNK1 100.00 0 ,
    WNK4 100.00 0 ,
    WNT4 93.15 0 ,
    WNT5A 88.79 0 ,
    WT1 95.16 0 ,
    XDH 100.00 0 ,
    XPNPEP3 100.00 0 ,
    XPO5 99.80 0 ,
    ZIC3 100.00 0 ,
    ZMYM2 99.97 0 ,
    ZNF423 100.00 0 ,
  • 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
  • Tubulopathy/Nephrolithiasis (106 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY10 100.00 1 NM_018417.6
    AGXT 100.00 1 NM_000030.3
    ALDOB 100.00 1 NM_000035.4
    ALPL 100.00 1 NM_000478.6
    AP2S1 100.00 1 NM_004069.6
    AQP2 100.00 1 NM_000486.6
    ATP6V0A4 100.00 1 NM_020632.3
    ATP6V1B1 100.00 1 NM_001692.4
    ATP7B 100.00 1 NM_000053.4
    AVPR2 100.00 1 NM_000054.7
    BSND 100.00 1 NM_057176.3
    CASR 100.00 1 NM_000388.4
    CLCN5 100.00 1 NM_001127898.4
    CLCNKB 100.00 1 NM_000085.5
    CLDN10 100.00 1 NM_006984.5
    CLDN16 100.00 1 NM_006580.4
    CLDN19 100.00 1 NM_148960.3
    CNNM2 100.00 1 NM_017649.5
    CTNS 100.00 1 NM_004937.3
    CUL3 100.00 1 NM_003590.5
    CYP24A1 100.00 1 NM_000782.5
    EGF 100.00 1 NM_001963.6
    EGFR 100.00 1 NM_005228.5
    EHHADH 100.00 1 NM_001966.4
    FAH 100.00 1 NM_000137.4
    FAN1 100.00 1 NM_014967.5
    FGF23 100.00 1 NM_020638.3
    FXYD2 100.00 1 NM_001680.5
    G6PC1 100.00 1 NM_000151.4
    GALT 100.00 1 NM_000155.4
    GATM 100.00 1 NM_001482.3
    GNA11 100.00 1 NM_002067.5
    GRHPR 100.00 1 NM_012203.2
    HNF1B 100.00 1 NM_000458.4
    HOGA1 100.00 1 NM_138413.4
    HSD11B2 100.00 1 NM_000196.4
    KCNJ1 100.00 1 NM_153766.3
    KCNJ10 100.00 1 NM_002241.5
    KLHL3 100.00 1 NM_017415.3
    MAGED2 100.00 1 NM_177433.3
    NR3C2 100.00 1 NM_000901.5
    OCRL 100.00 1 NM_000276.4
    PCBD1 100.00 1 NM_000281.4
    PHEX 100.00 1 NM_000444.6
    REN 100.00 1 NM_000537.4
    SCNN1A 100.00 1 NM_001038.6
    SCNN1B 100.00 1 NM_000336.3
    SCNN1G 100.00 1 NM_001039.4
    SEC61A1 100.00 1 NM_013336.4
    SLC12A1 100.00 1 NM_000338.3
    SLC12A3 100.00 1 NM_001126108.2
    SLC2A2 100.00 1 NM_000340.2
    SLC34A1 100.00 1 NM_003052.5
    SLC34A3 100.00 1 NM_001177316.2
    SLC3A1 100.00 1 NM_000341.4
    SLC4A1 100.00 1 NM_000342.4
    SLC4A4 100.00 1 NM_001098484.3
    SLC5A2 100.00 1 NM_003041.4
    SLC7A9 100.00 1 NM_014270.5
    NHERF1 100.00 1 NM_004252.5
    TRPM6 100.00 1 NM_017662.5
    UMOD 100.00 1 NM_003361.4
    VDR 100.00 1 NM_000376.3
    VIPAS39 100.00 1 NM_001193315.2
    VPS33B 100.00 1 NM_018668.5
    WNK1 100.00 1 NM_018979.4
    WNK4 100.00 1 NM_032387.5
    AGTR1 100.00 1 NM_000685.5
    APRT 100.00 1 NM_000485.3
    CA2 100.00 1 NM_000067.3
    CACNA1H 100.00 1 NM_021098.3
    CLCN2 100.00 1 NM_004366.6
    CLCNKA 100.00 1 NM_004070.4
    CYP11B1 100.00 1 NM_000497.4
    CYP17A1 100.00 1 NM_000102.4
    DMP1 100.00 1 NM_004407.4
    ENPP1 100.00 1 NM_006208.3
    FANCA 100.00 1 no
    FAM20A 100.00 1 NM_017565.4
    FOXI1 100.00 1 NM_012188.5
    HNF1A 100.00 1 NM_000545.8
    HNF4A 100.00 1 NM_175914.5
    HPRT1 100.00 1 NM_000194.3
    KCNJ16 100.00 1 NM_170741.4
    KCNJ5 100.00 1 NM_000890.5
    KL 100.00 1 NM_004795.4
    LAGE3 100.00 1 NM_006014.5
    LDHD 100.00 1 NM_194436.3
    LRP2 100.00 1 NM_004525.3
    MEN1 100.00 1 NM_001370259.2
    MOCOS 100.00 1 NM_017947.4
    PRPS1 100.00 1 NM_002764.4
    SLC16A12 100.00 1 NM_213606.4
    SLC22A12 100.00 1 NM_144585.4
    SLC2A9 100.00 1 NM_020041.3
    SLC36A2 100.00 1 NM_181776.3
    SLC5A1 100.00 1 NM_000343.4
    SLC6A19 100.00 1 NM_001003841.3
    SLC6A20 100.00 1 NM_020208.4
    WDR72 100.00 1 NM_182758.4
    WFS1 100.00 1 NM_006005.3
    XDH 100.00 1 NM_000379.4
    AGT 100.00 1 NM_001384479.1
    CDC73 100.00 1 NM_024529.5
    RRAGD 100.00 1 NM_021244.5
    SLC26A1 100.00 1 NM_022042.4
    SLC41A1 100.00 1 NM_173854.6
  • epidermal nevus syndrome (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    CDKN2A 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
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB4 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
    H3-3A 0.00 0 Only hotspots in the gene
    H3C2 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
    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
    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
    PTEN 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene