1. Analytes
  2. SDHAF2

SDHAF2

Analyte Export to PDF
Name:
succinate dehydrogenase complex assembly factor 2
Symbol:
SDHAF2
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
FLJ20487
SDH5
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
SwissProt
Created:
Changed:
  • Hereditary cancer predisposition - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABRAXAS1 100.00 0
    ACD 100.00 0
    AIP 100.00 0
    AMER1 100.00 0
    APC 100.00 0
    ATM 100.00 0
    AXIN2 100.00 0
    BAP1 100.00 0
    BARD1 100.00 0
    BLM 100.00 0
    BMPR1A 100.00 0
    BRCA1 100.00 0
    BRCA2 100.00 0
    BRIP1 100.00 0
    BUB1B 100.00 0
    BUB3 100.00 0
    CDH1 100.00 0
    CDK12 100.00 0
    CDK4 100.00 0
    CDKN1B 100.00 0
    CDKN2A 100.00 0
    CHEK1 100.00 0
    CHEK2 100.00 0
    CTNNA1 100.00 0
    CTNNB1 100.00 0
    DICER1 100.00 0
    EDN3 100.00 0
    EDNRB 100.00 0
    EPCAM 100.00 0
    ERCC4 100.00 0
    FANCA 100.00 0
    FANCB 100.00 0
    FANCC 100.00 0
    FANCD2 100.00 0
    FANCE 100.00 0
    FANCF 100.00 0
    FANCG 100.00 0
    FANCI 100.00 0
    FANCL 100.00 0
    FANCM 100.00 0
    FH 100.00 0
    FLCN 100.00 0
    GDNF 100.00 0
    GREM1 100.00 0
    HNF1B 100.00 0
    HOXB13 100.00 0
    MAD2L2 100.00 0
    MAX 100.00 0
    MEN1 100.00 0
    MET 100.00 0
    MITF 100.00 0
    MLH1 100.00 0
    MRE11 100.00 0
    MSH2 100.00 0
    MSH3 100.00 0
    MSH6 100.00 0
    MUTYH 100.00 0
    NBN 100.00 0
    NRG3 100.00 0
    NRTN 100.00 0
    NTHL1 100.00 0
    PALB2 100.00 0
    PALLD 100.00 0
    PBRM1 100.00 0
    PMS2 100.00 0
    POLD1 100.00 0
    POLE 100.00 0
    POT1 100.00 0
    PPP2R2A 100.00 0
    PTEN 100.00 0
    RABL3 100.00 0
    RAD50 100.00 0
    RAD51 100.00 0
    RAD51B 100.00 0
    RAD51C 100.00 0
    RAD51D 100.00 0
    RAD54L 100.00 0
    RECQL 100.00 0
    RET 100.00 0
    RFWD3 100.00 0
    RNF43 100.00 0
    SDHA 100.00 0
    SDHAF2 100.00 0
    SDHB 100.00 0
    SDHC 100.00 0
    SDHD 100.00 0
    SEMA3C 100.00 0
    SEMA3D 100.00 0
    SLX4 100.00 0
    SMAD4 100.00 0
    SMARCA4 100.00 0
    SOX10 100.00 0
    SPINK1 100.00 0
    STK11 100.00 0
    SUCLG2 100.00 0
    TERF2IP 100.00 0
    TERT 100.00 0
    TMEM127 100.00 0
    TP53 100.00 0
    TSC1 100.00 0
    TSC2 100.00 0
    UBE2T 100.00 0
    VHL 100.00 0
    WT1 100.00 0
    XRCC2 100.00 0
    MBD4 100.00 0
    NRG1 100.00 0
  • Kidney cancer (Renal Cell Carcinoma (RCC)) (14 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BAP1 100.00 1
    FH 100.00 1
    FLCN 100.00 1
    MET 100.00 1
    SDHB 100.00 1
    SDHD 100.00 1
    SDHC 100.00 1
    SDHA 100.00 1
    SDHAF2 100.00 1
    VHL 100.00 1
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    PMS2 100.00 1
  • Kidney cancer (Transitional Cell Carcinoma (TCC)) (14 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BAP1 100.00 1
    FH 100.00 1
    FLCN 100.00 1
    MET 100.00 1
    SDHB 100.00 1
    SDHD 100.00 1
    SDHC 100.00 1
    SDHA 100.00 1
    SDHAF2 100.00 1
    VHL 100.00 1
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    PMS2 100.00 1
  • Leukodystrophy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS2 99.98 1
    ABAT 99.98 1
    ABCD1 99.98 1
    ACBD5 99.97 1
    ACER3 99.76 1
    ACOX1 99.98 1
    ACP5 100.00 1
    ACTL6B 99.90 1
    ADAR 99.84 1
    ADGRG1 99.90 1
    ADSL 99.93 1
    AGA 99.92 1
    AIFM1 99.92 1
    AIMP1 99.97 1
    AIMP2 99.99 1
    ALDH3A2 99.95 1
    ALDH5A1 96.19 1
    APP 99.92 1
    ARSA 99.99 1
    ASAH1 99.90 1
    ASPA 99.98 1
    ATAD3A 99.62 1
    ATP7A 99.87 1
    ATP7B 100.00 1
    AUH 99.95 1
    B3GALNT2 92.79 1
    BCAP31 99.95 1
    BCS1L 99.99 1
    BOLA3 99.22 1
    BTD 100.00 1
    CBS 17.79 1
    CIC 98.32 1
    CLCN2 100.00 1
    CLN3 99.92 1
    CLN5 100.00 1
    CLN6 100.00 1
    CLN8 100.00 1
    CNP 99.98 1
    CNTNAP1 99.98 1
    COA8 99.94 1
    COL4A1 99.99 1
    COL4A2 99.98 1
    COX10 99.99 1
    COX15 100.00 1
    CYP21A2 99.91 1
    CSF1R 99.92 1
    CTC1 100.00 1
    CTSA 99.98 1
    CTSD 100.00 1
    CTSF 99.96 1
    CYP27A1 100.00 1
    DAG1 100.00 1
    DARS1 98.85 1
    DARS2 98.31 1
    DCAF17 99.84 1
    DDHD2 99.97 1
    DEGS1 99.99 1
    DGUOK 99.93 1
    DLAT 99.65 1
    DLD 99.89 1
    DMXL2 99.86 1
    DNAJC5 99.99 1
    EARS2 99.96 1
    ECHS1 100.00 1
    EIF2AK1 99.90 1
    EIF2AK2 99.70 1
    EIF2B1 99.98 1
    EIF2B2 99.90 1
    EIF2B3 97.26 1
    EIF2B4 99.96 1
    EIF2B5 99.98 1
    EPRS1 99.53 1
    ERCC2 99.98 1
    ERCC3 99.90 1
    ERCC6 99.60 1
    ERCC8 99.79 1
    FA2H 99.98 1
    HYCC1 99.81 1
    FAR1 99.82 1
    FARS2 100.00 1
    FASTKD2 99.93 1
    FBXL4 100.00 1
    FDX2 99.99 1
    CFH 99.97 1
    FIG4 99.83 1
    FKTN 99.94 1
    FLVCR2 100.00 1
    FOLR1 100.00 1
    FUCA1 98.72 1
    GALC 99.92 1
    GALT 100.00 1
    GAN 99.98 1
    GBE1 99.73 1
    GFAP 99.99 1
    GFM1 99.95 1
    GFM2 99.87 1
    GJA1 100.00 1
    GJB1 100.00 1
    GJC2 100.00 1
    GLA 99.90 1
    GLB1 100.00 1
    GM2A 100.00 1
    GNAS 100.00 1
    GPHN 99.94 1
    GRN 100.00 1
    GTF2H5 100.00 1
    HEPACAM 100.00 1
    HEXA 99.99 1
    HEXB 99.91 1
    HIKESHI 99.78 1
    HLCS 99.97 1
    HMGCL 99.31 1
    HSD17B4 99.71 1
    HSPD1 83.42 1
    HTRA1 100.00 1
    IBA57 100.00 1
    IFIH1 99.84 1
    IKBKG 57.34 1
    ISCA2 100.00 1
    IVD 100.00 1
    JAM3 100.00 1
    KARS1 99.98 1
    L2HGDH 99.92 1
    LAMA2 99.95 1
    LARGE1 100.00 1
    LARS2 99.96 1
    LIPT1 99.89 1
    LIPT2 99.99 1
    LMNB1 99.73 1
    LYRM7 99.98 1
    MAN2B1 99.99 1
    MANBA 99.81 1
    MARS2 100.00 1
    MCOLN1 100.00 1
    MFSD8 99.70 1
    MLC1 99.99 1
    MMUT 99.68 1
    MOCS1 99.95 1
    MOCS2 99.96 1
    MPLKIP 99.99 1
    MPV17 99.98 1
    MRPS34 100.00 1
    MTFMT 99.98 1
    MTHFR 99.97 1
    MTO1 90.25 1
    NAXD 99.99 1
    NAXE 99.99 1
    NDUFA2 99.95 1
    NDUFA9 100.00 1
    NDUFAF1 100.00 1
    NDUFAF3 100.00 1
    NDUFAF4 99.95 1
    NDUFAF6 99.86 1
    NDUFS1 99.79 1
    NDUFS2 99.66 1
    NDUFS4 99.99 1
    NDUFS7 99.99 1
    NDUFS8 100.00 1
    NDUFV1 99.99 1
    NEU1 99.98 1
    NKX6-2 100.00 1
    NOTCH3 99.99 1
    NPC1 99.99 1
    NPC2 100.00 1
    NTNG2 99.98 1
    NUBPL 99.62 1
    OCLN 82.91 1
    OCRL 99.89 1
    PAH 99.96 1
    PARS2 99.99 1
    PCCA 99.90 1
    PCCB 99.97 1
    PDGFB 99.99 1
    PDGFRB 99.99 1
    PDHA1 99.04 1
    PDHB 99.94 1
    PDHX 99.64 1
    PDP1 100.00 1
    PEX1 98.80 1
    PEX10 100.00 1
    PEX11B 99.62 1
    PEX12 100.00 1
    PEX13 99.36 1
    PEX14 100.00 1
    PEX16 99.94 1
    PEX19 99.25 1
    PEX2 100.00 1
    PEX26 100.00 1
    PEX3 99.85 1
    PEX5 99.89 1
    PEX6 99.99 1
    PEX7 99.72 1
    PLEKHG2 99.99 1
    PLP1 99.98 1
    PLPBP 99.99 1
    PMPCB 99.94 1
    PNPT1 99.56 1
    POLG 100.00 1
    POLR1C 100.00 1
    POLR3A 99.97 1
    POLR3B 99.94 1
    POLR3K 100.00 1
    POMGNT1 99.69 1
    POMT1 99.96 1
    POMT2 99.98 1
    PPT1 97.48 1
    PRF1 100.00 1
    PSAP 99.94 1
    PSAT1 99.98 1
    PSPH 99.09 1
    PYCR2 99.95 1
    QDPR 99.92 1
    RARS1 99.76 1
    RNASEH2A 99.95 1
    RNASEH2B 99.94 1
    RNASEH2C 99.99 1
    RNASET2 99.99 1
    SAMHD1 99.98 1
    SCP2 94.94 1
    SDHA 99.98 1
    SDHAF1 99.99 1
    SDHAF2 99.96 1
    SDHB 97.32 1
    SDHD 82.93 1
    SEPSECS 99.78 1
    SGO1 99.90 1
    SHANK3 98.45 1
    SLC13A3 99.98 1
    SLC16A2 99.97 1
    SLC17A5 99.71 1
    SLC20A2 99.95 1
    SLC25A12 99.72 1
    SLC44A1 99.90 1
    SLC7A2 99.97 1
    SNAP29 99.85 1
    SNORD118 100.00 1
    SOX10 100.00 1
    SPG11 99.89 1
    STN1 99.88 1
    STX11 100.00 1
    STXBP2 100.00 1
    SUCLA2 99.96 1
    SUMF1 99.95 1
    SUOX 100.00 1
    SURF1 100.00 1
    TACO1 100.00 1
    TMEM106B 99.92 1
    TMEM63A 99.91 1
    ACD 99.99 1
    TREM2 100.00 1
    TREX1 100.00 1
    TSEN54 100.00 1
    TTR 100.00 1
    TUBB4A 100.00 1
    TWNK 100.00 1
    TYMP 99.87 1
    TYROBP 99.95 1
    UBTF 99.99 1
    UFM1 99.25 1
    UNC13D 100.00 1
    VPS11 99.99 1
    WARS2 97.72 1
    WT1 99.99 1
    XPR1 99.13 1
    ZFYVE26 100.00 1
  • Neuroendocrine tumor (NET) (9 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MEN1 100.00 1
    CDKN1B 10.00 1
    RET 100.00 1
    SDHB 100.00 1
    SDHD 100.00 1
    SDHC 100.00 1
    SDHA 100.00 1
    SDHAF2 100.00 1
    VHL 100.00 1
  • Onco-endocine pathologies (50 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AIP 100.00 1 Part of Custom Onco-endocrino panel
    ALK 100.00 1 Part of Custom Onco-endocrino panel
    ARMC5 100.00 1 Part of Custom Onco-endocrino panel
    AXIN2 100.00 1 Part of Custom Onco-endocrino panel
    BAP1 100.00 1 Part of Custom Onco-endocrino panel
    CDK4 100.00 1 Part of Custom Onco-endocrino panel
    CDKN1B 100.00 1 Part of Custom Onco-endocrino panel
    CDKN2A 100.00 1 Part of Custom Onco-endocrino panel
    CYLD 100.00 1 Part of Custom Onco-endocrino panel
    DNMT3A 100.00 1 Part of Custom Onco-endocrino panel
    EGLN1 100.00 1 Part of Custom Onco-endocrino panel
    EGLN2 100.00 1 Part of Custom Onco-endocrino panel
    EGLN3 100.00 1 Part of Custom Onco-endocrino panel
    EPAS1 100.00 1 Part of Custom Onco-endocrino panel
    FH 100.00 1 Part of Custom Onco-endocrino panel
    FLCN 100.00 1 Part of Custom Onco-endocrino panel
    GOT2 100.00 1 Part of Custom Onco-endocrino panel
    HIF1A 100.00 1 Part of Custom Onco-endocrino panel
    HOXB13 100.00 1 Part of Custom Onco-endocrino panel
    IDH3B 100.00 1 Part of Custom Onco-endocrino panel
    KIF1B 100.00 1 Part of Custom Onco-endocrino panel
    KIT 100.00 1 Part of Custom Onco-endocrino panel
    KMT2D 100.00 1 Part of Custom Onco-endocrino panel
    MAX 100.00 1 Part of Custom Onco-endocrino panel
    MC1R 100.00 1 Part of Custom Onco-endocrino panel
    MDH1 100.00 1 Part of Custom Onco-endocrino panel
    MDH2 100.00 1 Part of Custom Onco-endocrino panel
    MEN1 100.00 1 Part of Custom Onco-endocrino panel
    MERTK 100.00 1 Part of Custom Onco-endocrino panel
    MET 100.00 1 Part of Custom Onco-endocrino panel
    MITF 100.00 1 Part of Custom Onco-endocrino panel
    NF1 100.00 1 Part of Custom Onco-endocrino panel
    PDGFRA 100.00 1 Part of Custom Onco-endocrino panel
    PHOX2B 100.00 1 Part of Custom Onco-endocrino panel
    POT1 100.00 1 Part of Custom Onco-endocrino panel
    PRKAR1A 100.00 1 Part of Custom Onco-endocrino panel
    PTCH1 100.00 1 Part of Custom Onco-endocrino panel
    PTCH2 100.00 1 Part of Custom Onco-endocrino panel
    RB1 100.00 1 Part of Custom Onco-endocrino panel
    RET 100.00 1 Part of Custom Onco-endocrino panel
    SDHA 100.00 1 Part of Custom Onco-endocrino panel
    SDHAF1 100.00 1 Part of Custom Onco-endocrino panel
    SDHAF2 100.00 1 Part of Custom Onco-endocrino panel
    SDHAF3 100.00 1 Part of Custom Onco-endocrino panel
    SDHB 100.00 1 Part of Custom Onco-endocrino panel
    SDHC 100.00 1 Part of Custom Onco-endocrino panel
    SDHD 100.00 1 Part of Custom Onco-endocrino panel
    SUFU 100.00 1 Part of Custom Onco-endocrino panel
    TMEM127 100.00 1 Part of Custom Onco-endocrino panel
    VHL 100.00 1 Part of Custom Onco-endocrino panel
  • Paraganglioma and pheochromocytoma (29 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    DNMT3A 100.00 1 Part of custom Onco-endocrino panel
    EGLN1 100.00 1 Part of custom Onco-endocrino panel
    EGLN2 100.00 1 Part of custom Onco-endocrino panel
    EGLN3 100.00 1 Part of custom Onco-endocrino panel
    EPAS1 100.00 1 Part of custom Onco-endocrino panel
    FH 100.00 1 Part of custom Onco-endocrino panel
    GOT2 100.00 1 Part of custom Onco-endocrino panel
    HIF1A 100.00 1 Part of custom Onco-endocrino panel
    IDH3B 100.00 1 Part of custom Onco-endocrino panel
    KIF1B 100.00 1 Part of custom Onco-endocrino panel
    KMT2D 100.00 1 Part of custom Onco-endocrino panel
    MAX 100.00 1 Part of custom Onco-endocrino panel
    MDH1 100.00 1 Part of custom Onco-endocrino panel
    MDH2 100.00 1 Part of custom Onco-endocrino panel
    MEN1 100.00 1 Part of custom Onco-endocrino panel
    MERTK 100.00 1 Part of custom Onco-endocrino panel
    MET 100.00 1 Part of custom Onco-endocrino panel
    NF1 100.00 1 Part of custom Onco-endocrino panel
    PRKAR1A 100.00 1 Part of custom Onco-endocrino panel
    RET 100.00 1 Part of custom Onco-endocrino panel
    SDHA 100.00 1 Part of custom Onco-endocrino panel
    SDHAF1 100.00 1 Part of custom Onco-endocrino panel
    SDHAF2 100.00 1 Part of custom Onco-endocrino panel
    SDHAF3 100.00 1 Part of custom Onco-endocrino panel
    SDHB 100.00 1 Part of custom Onco-endocrino panel
    SDHC 100.00 1 Part of custom Onco-endocrino panel
    SDHD 100.00 1 Part of custom Onco-endocrino panel
    TMEM127 100.00 1 Part of custom Onco-endocrino panel
    VHL 100.00 1 Part of custom Onco-endocrino panel
  • Paraganglioma-pheochromocytoma (10 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    SDHA
    SDHB
    SDHC
    SDHD
    MAX
    TMEM127
    SDHAF2
    VHL
    RET
    MET
  • Paraganglioma-pheochromocytoma (8 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    SDHA 100.00 1
    SDHB 100.00 1
    SDHC 100.00 1
    SDHD 100.00 1
    SDHAF2 100.00 1
    RET 100.00 1
    VHL 100.00 1
    NF1 100.00 1
  • Pediatric oncopredisposition - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 99.97 1
    ABCB11 99.86 1
    ACD 100.00 1
    AIP 99.99 1
    ALK 99.93 1
    APC 99.97 1
    ASXL1 100.00 1
    ATM 99.83 1
    RNF2 99.99 1
    BLM 99.80 1
    BMPR1A 99.58 1
    BRAF 99.78 1
    BRCA1 98.33 1
    BRCA2 99.99 1
    BRIP1 99.39 1
    BUB1B 100.00 1
    CBL 99.95 1
    CD27 99.95 1
    CD70 99.99 1
    CDC73 99.60 1
    CDH1 99.98 1
    CDK4 100.00 1
    CDKN1B 100.00 1
    CDKN1C 100.00 1
    CDKN2A 100.00 1
    CEBPA 100.00 1
    CEP57 99.92 1
    CREBBP 99.97 1
    CTC1 100.00 1
    CTLA4 99.99 1
    CTR9 99.98 1
    DDB2 100.00 1
    DICER1 99.96 1
    DIS3L2 99.90 1
    DKC1 99.59 1
    DNAJC21 99.67 1
    EFL1 99.83 1
    EGLN1 99.86 1
    EGLN2 99.97 1
    ELP1 99.96 1
    EPAS1 99.99 1
    EPCAM 99.89 1
    ERCC2 99.98 1
    ERCC3 99.90 1
    ERCC4 99.92 1
    ERCC5 99.99 1
    ERCC6L2 99.94 1
    ETV6 99.99 1
    EZH2 99.89 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
    FAS 99.99 1
    FBXW7 99.90 1
    FH 99.95 1
    GATA1 99.97 1
    GATA2 99.99 1
    GPC3 99.60 1
    GPC4 99.89 1
    GPR161 99.92 1
    HAVCR2 99.93 1
    HRAS 100.00 1
    IKZF1 99.92 1
    ITK 99.91 1
    KRAS 99.13 1
    L2HGDH 99.92 1
    LIG4 100.00 1
    LZTR1 99.46 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MAX 99.96 1
    MDH2 99.54 1
    MDM4 99.43 1
    MEN1 99.98 1
    MLH1 99.64 1
    MRAS 99.97 1
    MSH2 99.23 1
    MSH6 99.97 1
    MYSM1 94.16 1
    NBN 99.93 1
    NF1 99.88 1
    NF2 100.00 1
    NHP2 99.96 1
    NOP10 99.99 1
    NRAS 99.66 1
    NSD1 99.98 1
    PALB2 99.71 1
    PARN 99.75 1
    PAX5 99.82 1
    PHOX2B 99.98 1
    PIK3CA 99.74 1
    PMS2 70.47 1
    POLD1 99.96 1
    POLE 99.99 1
    POLH 99.85 1
    POT1 99.91 1
    PPP1CB 99.89 1
    PRF1 100.00 1
    PRKAR1A 100.00 1
    PTCH1 99.99 1
    PTEN 99.89 1
    PTPN11 99.98 1
    RAF1 99.97 1
    RB1 99.84 1
    RECQL4 100.00 1
    REST 99.99 1
    RET 99.97 1
    RIT1 99.78 1
    RMRP 100.00 1
    RPL11 99.81 1
    RPL15 31.77 1
    RPL18 100.00 1
    RPL26 30.55 1
    RPL27 99.83 1
    RPL35 99.99 1
    RPL35A 97.55 1
    RPL5 28.81 1
    RPS10 0.00 1
    RPS15A 22.14 1
    RPS17 100.00 1
    RPS19 100.00 1
    RPS24 91.48 1
    RPS26 8.99 1
    RPS27 27.45 1
    RPS28 100.00 1
    RPS29 99.96 1
    RPS7 88.50 1
    RRAS 99.98 1
    RRAS2 99.94 1
    RTEL1 100.00 1
    RUNX1 100.00 1
    SAMD9 99.93 1
    SAMD9L 99.95 1
    SBDS 99.93 1
    SDHA 99.98 1
    SDHAF2 99.96 1
    SDHB 97.32 1
    SDHC 99.67 1
    SDHD 82.93 1
    SETBP1 100.00 1
    SH2D1A 98.98 1
    SHOC2 99.96 1
    SLX4 100.00 1
    SMARCA4 99.99 1
    SMARCB1 99.99 1
    SMARCE1 99.87 1
    SOS1 99.68 1
    SOS2 99.39 1
    SRP72 99.91 1
    STK11 100.00 1
    SUFU 100.00 1
    TERC 98.59 1
    TERT 100.00 1
    TINF2 100.00 1
    TMEM127 99.99 1
    TP53 99.98 1
    TRIM28 100.00 1
    TRIM37 98.19 1
    TRIP13 100.00 1
    TSC1 99.99 1
    TSC2 99.98 1
    TSR2 99.96 1
    UBE2T 99.89 1
    USB1 89.62 1
    VHL 100.00 1
    WAS 99.90 1
    WRAP53 100.00 1
    WT1 99.99 1
    XPA 99.68 1
    XPC 99.98 1
    SRP54 99.90 1
  • Pheochromocytoma - paraganglioma syndrome - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MAX 100.00 1
    RET 100.00 0
    SDHA 100.00 1
    SDHAF2 100.00 1
    SDHB 100.00 1
    SDHC 100.00 1
    SDHD 100.00 1
    TMEM127 100.00 1
    VHL 100.00 1
    SUCLG2 100.00 0