ClinVar Miner

Variants from Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 other total
1084 777 139 74 43 3 2032

Gene and significance breakdown #

Total genes and gene combinations: 418
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
TP53 137 38 7 1 0 0 172
NF1 65 34 6 0 0 0 102
DICER1 33 33 6 0 0 0 72
DDX3X 38 12 1 0 0 0 48
SMARCA4 28 25 1 0 0 0 47
PDGFRA 38 7 1 0 0 0 46
PIK3CA 37 16 0 0 0 0 43
CTNNB1, LOC126806658 36 6 0 0 0 0 36
BRCA2 20 6 7 2 0 0 35
PTPN11 19 16 3 0 0 0 31
APC 14 7 7 2 0 0 30
ELP1 2 21 6 0 0 0 29
PIK3R1 21 7 0 0 0 0 28
BRAF 15 13 1 0 0 0 27
PTEN 15 9 2 0 0 0 26
FBXW7 11 17 0 0 0 0 23
FGFR1 16 8 2 0 0 1 23
KIT 20 3 0 0 0 0 23
PTCH1 11 7 6 0 0 0 23
ATRX 11 11 0 0 0 0 22
CHEK2 9 9 4 0 0 0 22
SMARCB1 14 7 0 0 0 0 21
ATM 18 2 0 0 0 0 20
LZTR1 3 10 7 0 0 0 20
RB1 15 4 0 0 0 0 19
ARID1A 5 12 0 1 0 0 18
ATM, C11orf65 9 6 2 0 0 0 17
CREBBP 4 14 0 0 0 0 17
KRAS 15 6 0 0 0 0 17
SUFU 4 10 3 0 0 0 17
ALK 11 2 3 0 0 0 16
MSH6 7 7 2 0 0 0 16
BRCA1 13 2 0 0 0 0 15
EGFR 14 1 0 0 0 0 15
FGFR4 8 7 0 0 0 0 15
PALB2 9 4 2 0 0 0 15
VHL 11 3 1 0 0 0 15
NF2 9 4 1 0 0 0 14
NRAS 13 7 0 0 0 0 14
CDKN2A 9 4 0 0 0 0 13
KMT2D 6 7 0 0 0 0 13
LOC107303340, VHL 7 4 2 0 0 0 13
SMARCE1 4 8 1 0 0 0 13
BCOR 5 5 0 1 0 0 11
KBTBD4 11 1 0 0 0 0 11
MLH1 5 5 1 0 0 0 11
NOTCH1 1 10 0 0 0 0 11
BRIP1 2 7 1 0 0 0 10
HRAS, LRRC56 9 3 0 0 0 0 10
KDM6A 6 4 0 0 0 0 10
POLE 3 2 4 0 0 0 9
SDHA 2 6 1 0 0 0 9
SDHB 6 1 2 0 0 0 9
TSC2 4 4 0 1 0 0 9
CHD7 1 3 0 3 1 0 8
LOC130005368, RRAS2 2 5 1 0 0 0 8
RAD51C 5 3 0 0 0 0 8
SETD2 1 7 0 0 0 0 8
BARD1 3 3 1 0 0 0 7
CBL 3 5 0 0 0 0 7
CSNK2B 7 0 0 0 0 0 7
DDX41 3 4 0 0 0 0 7
KMT2C 3 4 0 0 0 0 7
MED12 0 5 1 1 0 0 7
POT1 4 3 0 0 0 0 7
RET 5 1 1 0 0 0 7
AKT1 5 2 0 0 0 0 6
MBD4 1 5 0 0 0 0 6
MSH2 3 2 1 0 0 0 6
RAF1 0 5 1 0 0 0 6
ACVR1 4 4 0 0 0 0 5
CTNNB1 3 2 0 0 0 0 5
DNMT3A 1 4 0 0 0 0 5
GPS2 0 5 0 0 0 0 5
IDH1 4 2 0 0 0 0 5
IQSEC2 2 2 1 0 0 0 5
MAP2K1 2 4 0 0 0 0 5
PHOX2B 2 2 1 0 0 0 5
SMAD4 5 0 0 0 0 0 5
ANKRD11 3 0 0 1 0 0 4
ARID1B 1 3 0 0 0 0 4
ASXL1 1 4 0 0 0 0 4
BCORL1 0 4 0 0 0 0 4
CDH1 0 3 1 0 0 0 4
CIC 4 1 0 0 0 0 4
CTDNEP1 1 3 0 0 0 0 4
DROSHA 0 0 4 0 0 0 4
FH 2 1 1 0 0 0 4
LOC100507346, PTCH1 3 1 0 0 0 0 4
LOC110806263, TERT 4 3 0 0 0 0 4
MEN1 2 1 1 0 0 0 4
MET 0 4 0 0 0 0 4
MYC 0 4 0 0 0 0 4
NSD2 3 1 0 0 0 0 4
RAD51D, RAD51L3-RFFL 3 0 1 0 0 0 4
SDHD 1 3 0 0 0 0 4
SOS1 0 3 1 0 0 0 4
TSC1 2 2 0 0 0 0 4
AMER1 1 2 0 0 0 0 3
ARID2 1 2 0 0 0 0 3
ATR 0 3 0 0 0 0 3
BRCA1, LOC126862571 1 0 0 2 0 0 3
CCDST, FLG 2 0 0 1 0 0 3
DIS3 0 2 1 0 0 0 3
EHMT1 1 1 0 0 1 0 3
EIF1AX 1 2 0 0 0 0 3
EZHIP 1 2 0 0 0 0 3
GLI2 0 2 0 1 0 0 3
GPR161 0 2 1 0 0 0 3
GRIN2A 0 2 0 1 0 0 3
H3-3A 3 0 0 0 0 0 3
KDM5C 1 1 0 1 0 0 3
MTOR 1 2 0 0 0 0 3
MUTYH 3 0 0 0 0 0 3
PKP2 0 0 0 3 0 0 3
POLD1 0 1 1 0 1 0 3
RECQL4 1 0 2 0 0 0 3
RYR1 2 1 0 0 0 0 3
SMO 0 2 1 0 0 0 3
SRCAP 0 0 0 0 3 0 3
SUZ12 0 3 0 0 0 0 3
ABCC9 1 1 0 0 0 0 2
AP4M1 1 1 0 0 0 0 2
ATN1, LOC109461484 0 0 0 0 2 0 2
ATXN7 0 0 0 2 0 0 2
BCOR, LOC126863239 0 2 0 0 0 0 2
C2CD3 0 0 0 0 2 0 2
CEP55 1 0 1 0 0 0 2
CSNK2A1 2 0 0 0 0 0 2
CTNNA1 0 1 1 0 0 0 2
DGCR8 2 0 0 0 0 0 2
EED 0 1 1 0 0 0 2
EP300 0 2 0 0 0 0 2
ERBB3 0 2 0 0 0 0 2
EXT2 1 1 0 0 0 0 2
EZH2 0 2 0 0 0 0 2
FGFR2 0 2 0 0 0 0 2
FGFR3 1 0 0 1 0 0 2
FLCN 2 0 0 0 0 0 2
FOXP1 1 0 0 1 0 0 2
GNAQ 2 1 0 0 0 0 2
GNAS 1 1 0 0 0 0 2
HOXB13 1 1 0 0 0 0 2
JAK1, LOC126805749 0 2 0 0 0 0 2
KCNQ1 1 0 0 1 0 0 2
LOC108663996, TBP 0 0 0 0 2 0 2
LOC130004614, SUFU 2 0 0 0 0 0 2
MAX 1 1 0 0 0 0 2
MED25 0 2 0 0 0 0 2
MYH7 0 0 0 1 1 0 2
MYOG, MYOPARR 0 2 0 0 0 0 2
MYT1L 2 0 0 0 0 0 2
NOTCH2 0 2 0 0 0 0 2
OPA1 1 0 1 0 0 0 2
PBRM1 0 2 0 0 0 0 2
PDGFRB 0 2 0 0 0 0 2
PIGA 0 2 0 0 0 0 2
PRKACA 1 1 0 0 0 0 2
PUF60 1 0 0 0 1 0 2
RAC1 0 2 0 0 0 0 2
RAD21 0 2 0 0 0 0 2
RAD51B 0 1 1 0 0 0 2
RAI1 1 0 0 0 1 0 2
RPS6KA3 1 1 0 0 0 0 2
RTEL1, RTEL1-TNFRSF6B 0 1 0 0 1 0 2
SAMHD1 1 1 0 0 0 0 2
SATB2 1 1 0 0 0 0 2
SDHAF2 0 2 0 0 0 0 2
SDHC 2 0 0 0 0 0 2
SEC23B 0 0 1 1 0 0 2
SLC17A5 2 0 0 0 0 0 2
SLC22A5 1 1 0 0 0 0 2
SLC2A1 2 0 0 0 0 0 2
SLC6A3 0 0 2 0 0 0 2
SMC1A 1 1 0 0 0 0 2
SRD5A2 1 1 0 0 0 0 2
STXBP1 2 0 0 0 0 0 2
TBCD 0 0 2 0 0 0 2
TCF4 1 1 0 0 0 0 2
TET2 0 2 0 0 0 0 2
TRNT1 0 2 0 0 0 0 2
XPC 1 1 0 0 0 0 2
ZEB2 2 0 0 0 0 0 2
AARS1 0 0 0 1 0 0 1
ACP5 0 0 0 0 1 0 1
ACTB 0 1 0 0 0 0 1
ACVR2A 1 0 0 0 0 0 1
ADAT3, SCAMP4 0 0 0 0 1 0 1
AHDC1 0 0 0 0 1 0 1
AIP, LOC130006206 1 0 0 0 0 0 1
AKT3 0 1 0 0 0 0 1
ALDH18A1 0 0 0 1 0 0 1
ALK, PRRC2B 0 0 0 0 0 1 1
AMPD2 0 0 1 0 0 0 1
ANO5 0 0 0 1 0 0 1
AP4S1 1 0 0 0 0 0 1
APTX 0 0 0 0 1 0 1
ARMC5 0 0 1 0 0 0 1
ARX 0 1 0 0 0 0 1
ASIC4, GMPPA 0 0 0 1 0 0 1
ASMT 0 0 0 1 0 0 1
ATP6V1A 1 0 0 0 0 0 1
ATXN1 0 0 0 1 0 0 1
ATXN3, LOC108663987 0 0 0 0 1 0 1
AUTS2 0 0 0 1 0 0 1
AXIN2 0 1 0 0 0 0 1
B2M 0 1 0 0 0 0 1
B3GLCT 0 0 0 0 1 0 1
BAP1 1 0 0 0 0 0 1
BCAP31 0 0 0 1 0 0 1
BLM 1 0 0 0 0 0 1
BRAF, LOC126860202 0 1 0 0 0 0 1
CACNA1B 0 0 0 1 0 0 1
CACNA1C 0 1 0 0 0 0 1
CACNA1S 0 0 0 1 0 0 1
CAMTA1, LOC126805603 1 0 0 0 0 0 1
CARD11 0 1 0 0 0 0 1
CAV3, OXTR 0 1 0 0 0 0 1
CCND2 1 0 0 0 0 0 1
CCNH, RASA1 0 1 0 0 0 0 1
CDH23 0 1 0 0 0 0 1
CDKL5 1 0 0 0 0 0 1
CDKN1B 0 0 1 0 0 0 1
CDKN1C 0 1 0 0 0 0 1
CEBPA 1 0 0 0 0 0 1
CEBPA, LOC130064183 0 0 1 0 0 0 1
CFHR5 0 0 0 1 0 0 1
CFI 0 0 0 1 0 0 1
CFTR, LOC111674477 0 0 0 1 0 0 1
CHD2 0 1 0 0 0 0 1
CHRNB2 0 0 0 1 0 0 1
COL11A1 0 1 0 0 0 0 1
COL3A1 0 1 0 0 0 0 1
COL5A1 0 0 0 0 1 0 1
COL6A3 0 0 0 1 0 0 1
COL6A3, LOC126806573 0 0 0 1 0 0 1
COL7A1 0 1 0 0 0 0 1
CSF3R 0 0 0 1 0 0 1
CTCF 0 1 0 0 0 0 1
CTLA4 1 0 0 0 0 0 1
CTNNB1, LOC126806659 0 1 0 0 0 0 1
CYLD 1 0 0 0 0 0 1
D2HGDH 0 0 0 1 0 0 1
DCHS1 0 0 0 1 0 0 1
DDX25, HYLS1, PUS3 1 0 0 0 0 0 1
DHCR7, NADSYN1 0 0 0 1 0 0 1
DMXL2 0 0 0 1 0 0 1
DNAI2 0 0 0 1 0 0 1
DROSHA, LOC123493282 1 0 0 0 0 0 1
DUOX2 0 0 0 1 0 0 1
DVL1 0 0 0 0 1 0 1
DYRK1A 0 1 0 0 0 0 1
EFTUD2 1 0 0 0 0 0 1
EPAS1 1 0 0 0 0 0 1
EPG5 0 0 0 0 1 0 1
ERBB2 0 1 0 0 0 0 1
ERCC2 0 1 0 0 0 0 1
EXT2, LOC126861201 0 0 1 0 0 0 1
FAT1 0 1 0 0 0 0 1
FBN1 0 0 0 1 0 0 1
FLT3 1 0 0 0 0 0 1
FOXG1 0 1 0 0 0 0 1
FRG1 0 1 0 0 0 0 1
GABRB2 0 0 1 0 0 0 1
GABRB3 0 1 0 0 0 0 1
GABRG2 1 0 0 0 0 0 1
GLIS3 0 0 0 1 0 0 1
GNA14 1 0 0 0 0 0 1
GRM3 0 1 0 0 0 0 1
H3C11 1 0 0 0 0 0 1
H3C2 1 0 0 0 0 0 1
H3C3, LOC129996012 1 1 0 0 0 0 1
H3C4 0 1 0 0 0 0 1
HBB, LOC106099062, LOC107133510 1 0 0 0 0 0 1
HBB, LOC107133510, LOC110006319 0 1 0 0 0 0 1
HDAC8 0 0 0 0 1 0 1
HNRNPK 1 0 0 0 0 0 1
HTT, LOC129929027 0 0 0 0 1 0 1
IDH2 1 0 0 0 0 0 1
IDUA 1 0 0 0 0 0 1
IFT140, LOC105371046 1 0 0 0 0 0 1
IGFALS 0 0 0 1 0 0 1
IL10RA 0 0 0 1 0 0 1
INSL6, JAK2 1 0 0 0 0 0 1
IRF4 0 1 0 0 0 0 1
ITGB3 0 0 0 0 1 0 1
JAK2, ZBTB20 0 1 0 0 0 0 1
KANSL1 1 0 0 0 0 0 1
KAT6B 0 0 0 0 1 0 1
KATNIP 0 0 0 0 1 0 1
KCNT1 0 0 0 1 0 0 1
KDM3B 0 1 0 0 0 0 1
KDM6A, LOC130068183 0 1 0 0 0 0 1
KDR 0 1 0 0 0 0 1
KEAP1 0 1 0 0 0 0 1
KERA 1 0 0 0 0 0 1
KMT2A 0 1 0 0 0 0 1
KMT2C, LOC123956272 0 1 0 0 0 0 1
KRT85 0 0 0 0 1 0 1
LAMA2 0 0 0 0 1 0 1
LDLR 0 0 0 1 0 0 1
LHCGR, STON1-GTF2A1L 1 0 0 0 0 0 1
LOC102724058, SCN1A 1 0 0 0 0 0 1
LOC111811965, MIR4733HG, NF1 1 0 0 0 0 0 1
LOC126860794, NOTCH1 0 1 0 0 0 0 1
LOC126861339, SDHD 1 0 0 0 0 0 1
LOC126863252, RBM10 0 1 0 0 0 0 1
LOC129929542, SDHB 1 0 0 0 0 0 1
LOC129937585, NPHP3-ACAD11, UBA5 1 0 0 0 0 0 1
LOC130058479, SOCS1 1 0 0 0 0 0 1
LOC130067016, LZTR1 1 0 0 0 0 0 1
LONP1 0 0 0 0 1 0 1
LRP1B 0 1 0 0 0 0 1
MAK 0 0 0 1 0 0 1
MAP3K3 0 1 0 0 0 0 1
MECP2 1 0 0 0 0 0 1
MED13L 1 0 0 0 0 0 1
MET, RBPMS 0 0 0 0 0 1 1
MFSD11, SRSF2 0 1 0 0 0 0 1
MITF 0 1 0 0 0 0 1
MSH3 0 0 1 0 0 0 1
MYCN, MYCNOS 1 1 0 0 0 0 1
MYH11 0 1 0 0 0 0 1
MYOD1 1 0 0 0 0 0 1
NAA10 1 0 0 0 0 0 1
NBEA 0 0 1 0 0 0 1
NBN 0 1 0 0 0 0 1
NCOR1, TTC19 0 1 0 0 0 0 1
NEB 0 0 0 1 0 0 1
NEDD4L 0 0 1 0 0 0 1
NLGN4X 0 0 0 1 0 0 1
NLRP12 0 0 0 1 0 0 1
NPAT 0 0 1 0 0 0 1
NPHP3-ACAD11, UBA5 0 1 0 0 0 0 1
NPM1 1 0 0 0 0 0 1
NSD1 0 1 0 0 0 0 1
NUBPL 0 1 0 0 0 0 1
PALD1, PRF1 0 0 0 1 0 0 1
PARN 0 1 0 0 0 0 1
PIK3CB 0 1 0 0 0 0 1
PIK3R2 1 0 0 0 0 0 1
PKD1, TSC2 0 1 0 0 0 0 1
PLCB4 1 0 0 0 0 0 1
POLR1C, XPO5 0 1 0 0 0 0 1
POLR3B 0 1 0 0 0 0 1
PPM1D 0 1 0 0 0 0 1
PPP2R1A 0 1 0 0 0 0 1
PPP2R5D 1 0 0 0 0 0 1
PREX2 0 1 0 0 0 0 1
PRKAG2 0 0 0 1 0 0 1
PRKAR1A 1 0 0 0 0 0 1
PRODH 0 0 0 1 0 0 1
PTCH2 0 0 1 0 0 0 1
PTPRS 0 1 0 0 0 0 1
PTPRT 0 1 0 0 0 0 1
PYCR1 0 0 1 0 0 0 1
RAD50 0 1 0 0 0 0 1
RAP1B 0 1 0 0 0 0 1
RBM10 0 1 0 0 0 0 1
RBM28 0 0 0 0 1 0 1
REST 0 1 0 0 0 0 1
RIT1 0 1 0 0 0 0 1
RNASEH2B 0 0 1 0 0 0 1
RNF43 0 1 0 0 0 0 1
ROBO1 0 1 0 0 0 0 1
ROBO2 0 1 0 0 0 0 1
RPL22 0 1 0 0 0 0 1
RPS24 0 0 0 1 0 0 1
RRAS2 0 1 0 0 0 0 1
RYR2 0 0 0 1 0 0 1
SALL1 1 0 0 0 0 0 1
SCN1B 0 0 0 1 0 0 1
SCN8A 1 0 0 0 0 0 1
SERPINC1 0 1 0 0 0 0 1
SETBP1 0 0 0 0 1 0 1
SETD1B 0 1 0 0 0 0 1
SETD5 0 1 0 0 0 0 1
SF3B1 1 0 0 0 0 0 1
SHANK3 1 0 0 0 0 0 1
SLC6A8 0 0 0 0 1 0 1
SLX4 0 0 0 1 0 0 1
SMARCA2 0 0 0 0 1 0 1
SMARCAL1 0 1 0 0 0 0 1
SMPD1 0 0 0 0 1 0 1
SON 1 0 0 0 0 0 1
SPOP 0 1 0 0 0 0 1
SPRED1 0 1 0 0 0 0 1
STAG2 0 1 0 0 0 0 1
STK11 1 0 0 0 0 0 1
SYNE1 0 0 0 1 0 0 1
SYNGAP1 0 1 0 0 0 0 1
TAOK1 0 1 0 0 0 0 1
TBL1XR1 0 1 0 0 0 0 1
TBR1 1 0 0 0 0 0 1
TBX1 0 1 0 0 0 0 1
TCF7L2 0 1 0 0 0 0 1
TCN2 0 0 0 0 1 0 1
TDP1 0 0 0 1 0 0 1
TECPR2 0 0 0 0 1 0 1
TEK 1 0 0 0 0 0 1
TERT 1 0 0 0 0 0 1
TGFBR1 0 0 0 0 1 0 1
TGFBR2 1 0 0 0 0 0 1
TGM6 0 0 0 1 0 0 1
TMEM127 0 1 0 0 0 0 1
TMIE 0 0 0 1 0 0 1
TRAF7 1 0 0 0 0 0 1
TRIP12 1 0 0 0 0 0 1
TUBB4A 1 0 0 0 0 0 1
U2AF1 0 1 0 0 0 0 1
USP9X 0 0 0 0 1 0 1
WT1 1 0 0 0 0 0 1
ZFHX3 0 1 0 0 0 0 1
ZIC1 0 1 0 0 0 0 1
ZNF469 0 0 0 1 0 0 1
ZNF687 1 0 0 0 0 0 1
ZNRF3 1 0 0 0 0 0 1
ZSWIM6 0 0 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 344
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
Embryonal rhabdomyosarcoma 123 47 0 0 0 0 170
Diffuse midline glioma, H3 K27M-mutant 111 35 0 0 0 0 146
Medulloblastoma WNT activated 91 40 0 0 0 0 131
not specified 0 0 0 72 43 0 115
Hereditary cancer-predisposing syndrome 59 32 15 0 0 0 106
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 69 22 0 0 0 0 91
Li-Fraumeni syndrome 29 19 7 1 0 0 56
Neuroblastoma 16 40 0 0 0 0 56
Diffuse glioma, H3 G34 mutant 38 16 0 0 0 0 54
Neurofibromatosis, type 1 26 18 6 0 0 0 50
DICER1-related tumor predisposition 12 31 6 0 0 0 49
Pilocytic astrocytoma 24 25 0 0 0 0 49
Medulloblastoma non-WNT/non-SHH group 3 16 22 0 0 0 0 38
Rhabdomyosarcoma 18 19 0 0 0 0 37
ATM-related cancer predisposition 23 6 2 0 0 0 31
ELP1-Associated Medulloblastoma 2 21 6 0 0 0 29
Germinoma 22 5 0 0 0 0 27
Astrocytoma IDH-mutant 19 3 0 0 0 0 22
CHEK2-related cancer predisposition 9 9 4 0 0 0 22
Familial adenomatous polyposis 1 8 6 7 1 0 0 22
Medulloblastoma non-WNT/non-SHH 10 12 0 0 0 0 22
IDH-wildtype glioblastoma 13 8 0 0 0 0 21
LZTR1-related schwannomatosis 4 10 7 0 0 0 21
Medulloblastoma SHH activated 11 10 0 0 0 0 21
Medulloblastoma non-WNT/non-SHH group 4 13 8 0 0 0 0 21
Adenocarcinoma of the large intestine 13 7 0 0 0 0 20
Melanoma 8 11 0 0 0 0 19
Primary intracranial sarcoma, DICER1-mutant 17 2 0 0 0 0 19
Von Hippel-Lindau syndrome 8 7 3 0 0 0 18
Adamantinous craniopharyngioma 16 1 0 0 0 0 17
Medulloblastoma SHH activated and TP53 wild-type 10 7 0 0 0 0 17
Rosette-forming glioneuronal tumor 14 3 0 0 0 0 17
Basal cell nevus syndrome 2 5 8 3 0 0 0 16
Dysembryoplastic neuroepithelial tumor 11 5 0 0 0 0 16
Basal cell nevus syndrome 1 4 5 6 0 0 0 15
PALB2-related cancer predisposition 9 4 2 0 0 0 15
Adrenal cortex carcinoma 12 2 0 0 0 0 14
Alveolar rhabdomyosarcoma 5 9 0 0 0 0 14
Pleuropulmonary blastoma 12 2 0 0 0 0 14
Atypical teratoid rhabdoid tumor 8 5 0 0 0 0 13
Malignant glioma 11 2 0 0 0 0 13
Hereditary retinoblastoma 10 2 0 0 0 0 12
Low grade glioma 8 4 0 0 0 0 12
Medulloblastoma 4 6 1 0 0 0 11
Noonan syndrome 1 7 1 3 0 0 0 11
Rhabdoid tumor predisposition syndrome 2 0 10 1 0 0 0 11
Sertoli-Leydig cell tumor 9 2 0 0 0 0 11
Juvenile type testicular granulosa cell tumor 6 4 0 0 0 0 10
Meningioma 5 5 0 0 0 0 10
Nasopharyngeal carcinoma 3 7 0 0 0 0 10
Pheochromocytoma/paraganglioma syndrome 4 7 1 2 0 0 0 10
Familial meningioma 2 6 1 0 0 0 9
Giant cell glioblastoma 9 0 0 0 0 0 9
Neurofibromatosis, type 2 5 3 1 0 0 0 9
Pheochromocytoma 9 0 0 0 0 0 9
Pheochromocytoma/paraganglioma syndrome 5 2 6 1 0 0 0 9
Pleomorphic xanthoastrocytoma 3 6 0 0 0 0 9
Vascular Malformations and Overgrowth 7 2 0 0 0 0 9
Colorectal cancer 6 2 0 0 0 0 8
Embryonal tumor with multilayered rosettes 7 1 0 0 0 0 8
Ependymoma 2 6 0 0 0 0 8
Medulloblastoma SHH activated and TP53 mutant 7 1 0 0 0 0 8
Papillary thyroid carcinoma 6 2 0 0 0 0 8
BARD1-related cancer predisposition 3 3 1 0 0 0 7
DDX41-related hematologic malignancy predisposition syndrome 3 4 0 0 0 0 7
Desmoid tumor 7 0 0 0 0 0 7
Ewing sarcoma 2 5 0 0 0 0 7
Ganglioglioma 6 1 0 0 0 0 7
PTEN hamartoma tumor syndrome 3 2 2 0 0 0 7
Posterior fossa group A ependymoma 2 5 0 0 0 0 7
RAD51C-related cancer predisposition 5 2 0 0 0 0 7
Tumor predisposition syndrome 3 4 3 0 0 0 0 7
Acute myeloid leukemia 2 3 1 0 0 0 6
Follicular thyroid carcinoma 6 0 0 0 0 0 6
Glioma 4 2 0 0 0 0 6
High-grade astrocytoma with piloid features 4 2 0 0 0 0 6
Malignant peripheral nerve sheath tumor 3 3 0 0 0 0 6
Ovarian mucinous adenocarcinoma 6 0 0 0 0 0 6
Solid pseudopapillary neoplasm of the pancreas 6 0 0 0 0 0 6
Spindle cell sarcoma 3 3 0 0 0 0 6
Tumor predisposition syndrome 2 1 5 0 0 0 0 6
Choroid plexus carcinoma 4 1 0 0 0 0 5
Intellectual disability, X-linked 1 2 2 1 0 0 0 5
Nephroblastoma 3 2 0 0 0 0 5
Pheochromocytoma/paraganglioma syndrome 1 2 3 0 0 0 0 5
Precursor B-cell acute lymphoblastic leukemia 4 1 0 0 0 0 5
Primary brain neoplasm 2 3 0 0 0 0 5
Acute myeloid leukemia with NPM1 somatic mutations 3 1 0 0 0 0 4
Central nervous system germ cell tumor 3 1 0 0 0 0 4
Colon adenocarcinoma 3 1 0 0 0 0 4
Colorectal cancer, susceptibility to, 12 0 0 4 0 0 0 4
Melanoma and neural system tumor syndrome 2 2 0 0 0 0 4
MicroRNA processor tumor predisposition syndrome 0 0 4 0 0 0 4
Multiple endocrine neoplasia, type 1 2 1 1 0 0 0 4
Osteosarcoma 3 1 0 0 0 0 4
Ovarian sex cord-stromal tumor 1 3 0 0 0 0 4
Pineoblastoma 3 1 0 0 0 0 4
RAD51D-related cancer predisposition 3 0 1 0 0 0 4
Subependymal giant-cell astrocytoma 4 0 0 0 0 0 4
Synovial sarcoma 0 4 0 0 0 0 4
Tuberous sclerosis 2 1 3 0 0 0 0 4
oligodendroglioma, 1p 19q codeleted 3 1 0 0 0 0 4
4p partial monosomy syndrome 3 0 0 0 0 0 3
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia 2 1 0 0 0 0 3
Exostoses, multiple, type 2 1 1 1 0 0 0 3
Familial adenomatous polyposis 2 3 0 0 0 0 0 3
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 0 3 0 0 0 0 3
Germinomatous germ cell tumor 1 2 0 0 0 0 3
Hemangioblastoma 2 1 0 0 0 0 3
Hereditary leiomyomatosis and renal cell cancer 1 1 1 0 0 0 3
Immature ovarian teratoma 0 3 0 0 0 0 3
Intellectual disability, X-linked 102 2 0 1 0 0 0 3
KBG syndrome 3 0 0 0 0 0 3
Kleefstra syndrome 1 1 2 0 0 0 0 3
Metastatic melanoma 3 0 0 0 0 0 3
Neuroblastoma, susceptibility to, 3 0 0 3 0 0 0 3
Neuroepithelial neoplasm 1 2 0 0 0 0 3
Oligodendroglioma 3 0 0 0 0 0 3
Pineal parenchymal tumor of intermediate differentiation 2 1 0 0 0 0 3
Retinoblastoma 3 0 0 0 0 0 3
Rothmund-Thomson syndrome type 2 1 0 2 0 0 0 3
Rubinstein-Taybi syndrome due to CREBBP mutations 1 2 0 0 0 0 3
Signet ring cell carcinoma 1 2 0 0 0 0 3
Tuberous sclerosis 1 2 1 0 0 0 0 3
Vascular malformation 3 0 0 0 0 0 3
Wolf-Hirschhorn like syndrome 3 0 0 0 0 0 3
not provided 0 1 2 0 0 0 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1 1 0 0 0 0 2
Abortive cerebellar ataxia; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form 1 0 1 0 0 0 2
Adrenal cortex neoplasm 2 0 0 0 0 0 2
Aicardi-Goutieres syndrome 5 1 1 0 0 0 0 2
Birt-Hogg-Dube syndrome 1 2 0 0 0 0 0 2
Breast phyllodes tumor 1 1 0 0 0 0 2
CDH1-related diffuse gastric and lobular breast cancer syndrome 0 1 1 0 0 0 2
CTNNA1-related diffuse gastric and lobular breast cancer syndrome 0 1 1 0 0 0 2
Calcifying nested epithelial stromal tumor of the liver 2 0 0 0 0 0 2
Capillary malformation 2 0 0 0 0 0 2
Central nervous system germinoma 2 0 0 0 0 0 2
Central nervous system mesenchymal non-meningothelial tumor 2 0 0 0 0 0 2
Charcot-Marie-Tooth disease type 2B2; Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 2 0 0 0 0 2
Chromosome 2q32-q33 deletion syndrome 1 1 0 0 0 0 2
Classic dopamine transporter deficiency syndrome 0 0 2 0 0 0 2
Clear cell meningioma 2 0 0 0 0 0 2
Cns neuroblastoma with FOXR2 activation 0 2 0 0 0 0 2
Coffin-Lowry syndrome 1 1 0 0 0 0 2
Cohen-Gibson syndrome 0 1 1 0 0 0 2
Congenital fibrosarcoma 0 1 0 0 0 1 2
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome; Retinitis pigmentosa and erythrocytic microcytosis 0 2 0 0 0 0 2
Dermatitis, atopic, 2; Ichthyosis vulgaris 2 0 0 0 0 0 2
Desmoplastic small round cell tumor 0 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 4 2 0 0 0 0 0 2
Developmental and epileptic encephalopathy, 44 1 1 0 0 0 0 2
Diffuse astrocytoma, MYB- or MYBL1-altered 0 2 0 0 0 0 2
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 0 2 0 0 0 2
Embryonal neoplasm 0 2 0 0 0 0 2
Hb SS disease 1 1 0 0 0 0 2
Hepatoblastoma 2 0 0 0 0 0 2
Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2 2 0 0 0 0 0 2
Hereditary spastic paraplegia 50 1 1 0 0 0 0 2
Inflammatory myofibroblastic tumor 0 2 0 0 0 0 2
Intellectual disability, autosomal dominant 14 2 0 0 0 0 0 2
Intellectual disability, autosomal dominant 39 2 0 0 0 0 0 2
Leydig cell tumor 1 1 0 0 0 0 2
Liver cancer 0 2 0 0 0 0 2
Malignant spindle cell neoplasm 1 1 0 0 0 0 2
Meningeal melanocytoma 1 1 0 0 0 0 2
Mowat-Wilson syndrome 2 0 0 0 0 0 2
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 1 0 1 0 0 0 2
Multiple Myeloma Predisposition 0 1 1 0 0 0 2
Myxoid glioneuronal tumor 1 1 0 0 0 0 2
Neuroblastoma, susceptibility to, 2 1 0 1 0 0 0 2
Nodular ganglioneuroblastoma 0 2 0 0 0 0 2
Noonan syndrome 12 1 0 1 0 0 0 2
Noonan syndrome 1; Metachondromatosis; LEOPARD syndrome 1 2 0 0 0 0 0 2
Okur-Chung neurodevelopmental syndrome 2 0 0 0 0 0 2
Ovarian Sertoli-Leydig cell tumor 0 2 0 0 0 0 2
Ovarian carcinoma 0 2 0 0 0 0 2
Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 2 0 0 0 0 2
Pheochromocytoma/paraganglioma syndrome 2 0 2 0 0 0 0 2
Pheochromocytoma/paraganglioma syndrome 3 2 0 0 0 0 0 2
Polymorphous low grade neuroepithelial tumor of the young 1 1 0 0 0 0 2
Prostate cancer, hereditary, 9 1 1 0 0 0 0 2
RAD51B-related cancer predisposition 0 1 1 0 0 0 2
RASopathy 0 2 0 0 0 0 2
Renal carnitine transport defect 1 1 0 0 0 0 2
Sarcoma 0 2 0 0 0 0 2
Schwannoma 2 0 0 0 0 0 2
Sialic acid storage disease, severe infantile type; Salla disease 2 0 0 0 0 0 2
Sialoblastoma 0 2 0 0 0 0 2
Solid tumor 1 1 0 0 0 0 2
Spitz Melanocytoma 1 1 0 0 0 0 2
Squamous cell carcinoma of the skin 1 1 0 0 0 0 2
Tatton-Brown-Rahman overgrowth syndrome 1 1 0 0 0 0 2
Undifferentiated embryonal sarcoma of the liver 2 0 0 0 0 0 2
Xeroderma pigmentosum, group C 1 1 0 0 0 0 2
serous cystadenoma/endometrioid carcinoma 1 1 0 0 0 0 2
8q24.3 microdeletion syndrome 1 0 0 0 0 0 1
ACTH-independent macronodular adrenal hyperplasia 2 0 0 1 0 0 0 1
Acral lentiginous melanoma 1 0 0 0 0 0 1
Adenoid cystic carcinoma 1 0 0 0 0 0 1
Aicardi-Goutieres syndrome 2 0 0 1 0 0 0 1
Alveolar soft part sarcoma 0 1 0 0 0 0 1
Aortic valve disease 1; Adams-Oliver syndrome 5 0 1 0 0 0 0 1
Astrocytoma, IDH-mutant, grade 3 1 0 0 0 0 0 1
Au-Kline syndrome 1 0 0 0 0 0 1
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 1 0 0 0 0 0 1
Autosomal recessive cutis laxa type 2B; PYCR1-related de Barsy syndrome 0 0 1 0 0 0 1
BAP1-related tumor predisposition syndrome 1 0 0 0 0 0 1
Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome 0 1 0 0 0 0 1
Basal cell carcinoma, susceptibility to, 1 0 0 1 0 0 0 1
Benign metanephric tumor 1 0 0 0 0 0 1
Bloom syndrome 1 0 0 0 0 0 1
Borderline Ovarian Mucinous Tumor 0 1 0 0 0 0 1
Brooke-Spiegler syndrome 1 0 0 0 0 0 1
CBL-related disorder 0 1 0 0 0 0 1
CHARGE syndrome 0 1 0 0 0 0 1
CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 1 0 0 0 0 0 1
Carcinoma of parotid gland 0 1 0 0 0 0 1
Cardiovascular phenotype 1 0 0 0 0 0 1
Cavernous lymphangioma 1 0 0 0 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 1 0 0 0 0 0 1
Cerebral cavernous malformation 1 0 0 0 0 0 1
Clark-Baraitser syndrome 1 0 0 0 0 0 1
Clear cell adenocarcinoma 0 1 0 0 0 0 1
Clear cell sarcoma 0 1 0 0 0 0 1
Coffin-Siris syndrome 1 1 0 0 0 0 0 1
Coffin-Siris syndrome 6 0 1 0 0 0 0 1
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 1 0 0 0 0 0 1
Colorectal cancer, susceptibility to, 10 0 0 1 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 1 0 0 0 0 0 1
Cornea plana 2 1 0 0 0 0 0 1
Costello syndrome 1 0 0 0 0 0 1
Cowden syndrome 7 0 0 1 0 0 0 1
Craniopharyngioma 1 0 0 0 0 0 1
DYRK1A-related intellectual disability syndrome 0 1 0 0 0 0 1
Desmoplastic infantile ganglioglioma 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy 92 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy 93 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy 94 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 1 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 2 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 43 0 1 0 0 0 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 1 0 0 0 0 1
Dextro-looped transposition of the great arteries; Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 0 0 0 0 0 1
Diffuse leptomeningeal glioneuronal tumor 1 0 0 0 0 0 1
Diffuse low-grade glioma, MAPK pathway–altered 1 0 0 0 0 0 1
Dyskeratosis congenita, autosomal recessive 6 0 1 0 0 0 0 1
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Developmental and epileptic encephalopathy, 74 1 0 0 0 0 0 1
Ectomesenchymoma 1 0 0 0 0 0 1
Ehlers-Danlos syndrome, type 4 0 1 0 0 0 0 1
Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type 0 1 0 0 0 0 1
Epithelial-myoepithelial carcinoma 0 1 0 0 0 0 1
FOXG1 disorder 0 1 0 0 0 0 1
Familial colorectal cancer type X 0 0 1 0 0 0 1
Familial medullary thyroid carcinoma 1 0 0 0 0 0 1
Gastric adenocarcinoma 0 1 0 0 0 0 1
Gastrointestinal stromal tumor 1 0 0 0 0 0 1
Generalized dominant dystrophic epidermolysis bullosa 0 1 0 0 0 0 1
Hemimegalencephaly 1 0 0 0 0 0 1
Hepatosplenic T-cell lymphoma 0 1 0 0 0 0 1
Hereditary antithrombin deficiency 0 1 0 0 0 0 1
Hereditary pheochromocytoma and paraganglioma 1 0 0 0 0 0 1
Hereditary spastic paraplegia 52 1 0 0 0 0 0 1
Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 0 0 1 0 0 0 1
High grade astrocytic tumor 1 0 0 0 0 0 1
High grade malignant neoplasm 0 1 0 0 0 0 1
Houge-Janssens syndrome 1 1 0 0 0 0 0 1
Houge-Janssens syndrome 2 0 1 0 0 0 0 1
Hydrolethalus syndrome 1 1 0 0 0 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 1 0 0 0 0 0 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 1 0 0 0 0 1
IDH-mutant and 1p/19q-codeleted oligodendroglioma 1 0 0 0 0 0 1
Imagawa-Matsumoto syndrome 0 1 0 0 0 0 1
Intellectual disability and seizures 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 5 0 1 0 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 1 0 0 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 0 0 0 1
Juvenile myelomonocytic leukemia; CBL-related disorder 1 0 0 0 0 0 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 1 0 0 0 0 0 1
Juvenile polyps 1 0 0 0 0 0 1
Kabuki syndrome 1 1 0 0 0 0 0 1
Koolen-de Vries syndrome 1 0 0 0 0 0 1
Legius syndrome 0 1 0 0 0 0 1
Leukemia, acute lymphocytic, susceptibility to, 1 0 1 0 0 0 0 1
Lymphatic malformation 1 0 0 0 0 0 1
Malignant germ cell tumor 0 1 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 1 0 0 0 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 0 0 0 1
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1 0 1 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 0 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 1 0 0 0 0 0 1
Microphthalmia, syndromic 1; Ogden syndrome 1 0 0 0 0 0 1
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 1 0 0 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 21 0 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 1 0 0 0 0 0 1
Muenke syndrome 1 0 0 0 0 0 1
Multiple endocrine neoplasia type 4 0 0 1 0 0 0 1
Myhre syndrome; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 1 0 0 0 0 0 1
Neurofibroma 1 0 0 0 0 0 1
Noonan syndrome 4 0 0 1 0 0 0 1
Noonan syndrome 5 0 0 1 0 0 0 1
Noonan syndrome 7 0 0 1 0 0 0 1
Ovarian gynandroblastoma 1 0 0 0 0 0 1
Paget disease of bone 6 1 0 0 0 0 0 1
Papillary renal cell carcinoma 1 0 0 0 0 0 1
Parasympathetic paraganglioma 0 1 0 0 0 0 1
Periventricular nodular heterotopia 7 0 0 1 0 0 0 1
Phelan-McDermid syndrome 1 0 0 0 0 0 1
Pierpont syndrome; Intellectual disability, autosomal dominant 41 0 1 0 0 0 0 1
Pilomyxoid astrocytoma 1 0 0 0 0 0 1
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 1 0 0 0 0 0 1
Pituitary adenoma 5, multiple types 0 1 0 0 0 0 1
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 0 0 1 0 0 0 1
Port-wine stain with oculocutaneous melanosis 1 0 0 0 0 0 1
Posterior fossa ependymoma 0 1 0 0 0 0 1
Posterior fossa group B ependymoma 0 1 0 0 0 0 1
Precursor B-cell acute lymphoblastic leukemia; Myeloproliferative disorder; Increased total eosinophil count 0 1 0 0 0 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 1 0 0 0 0 1
Saldino-Mainzer syndrome; Retinitis pigmentosa 80 1 0 0 0 0 0 1
Sclerosing pneumocytoma 1 0 0 0 0 0 1
Sertoli cell tumor 1 0 0 0 0 0 1
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 1 0 0 0 0 0 1
Sinus histiocytosis with massive lymphadenopathy 1 0 0 0 0 0 1
Smith-Magenis syndrome 1 0 0 0 0 0 1
Soft tissue sarcoma 1 0 0 0 0 0 1
Somatotroph adenoma 1 0 0 0 0 0 1
Sotos syndrome 0 1 0 0 0 0 1
Spinal cord ependymoma 1 0 0 0 0 0 1
Spitzoid melanoma 1 0 0 0 0 0 1
Supratentorial ependymoma, ZFTA fusion–positive 0 1 0 0 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 0 0 0 0 1
T-cell acute lymphoblastic leukemia 1 0 0 0 0 0 1
TMEM127-related tumor predisposition 0 1 0 0 0 0 1
Testicular Large Cell Calcifying Sertoli Cell Tumor 1 0 0 0 0 0 1
Timothy syndrome; Brugada syndrome 3 0 1 0 0 0 0 1
Torsion dystonia 4; Hypomyelinating leukodystrophy 6 1 0 0 0 0 0 1
Townes-Brocks syndrome 1 1 0 0 0 0 0 1
Undifferentiated (embryonal) sarcoma 0 1 0 0 0 0 1
Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 0 1 0 0 0 0 1
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 0 0 1 0 0 0 1
Yolk sac tumor 0 1 0 0 0 0 1
ZTTK syndrome 1 0 0 0 0 0 1
epithelioid tumor of the omentum 0 0 0 0 0 1 1
spinal cord mass 0 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.