ClinVar Miner

Variants studied for male reproductive system neoplasm

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
202 230 2163 81 67 8 2 6 2741

Gene and significance breakdown #

Total genes and gene combinations: 500
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
HOXB13 1 1 769 2 5 0 0 0 775
BRCA2 86 16 73 26 17 0 0 2 220
TP53 1 75 115 0 0 0 0 0 191
PTEN 10 11 154 2 1 0 0 0 178
SPOP 0 15 162 0 0 0 0 0 173
BRAF 0 9 126 0 0 0 0 0 135
CHEK2 19 8 52 1 0 0 0 1 76
RNASEL 2 1 75 0 0 0 0 0 76
KRAS 0 0 72 0 0 0 0 0 72
CDH1 6 2 19 19 24 0 0 1 70
ELAC2 8 2 8 4 15 0 0 0 35
FGFR3 12 0 12 5 1 0 0 0 30
PIK3CA 0 28 0 0 0 0 0 0 28
CTNNB1, LOC126806658 0 24 1 0 0 0 0 0 25
AR 14 1 4 2 0 0 0 1 22
POLK 21 0 0 0 0 0 0 0 21
KIT 1 0 15 3 0 0 0 0 19
STK11 3 1 8 6 0 0 0 0 18
HRAS, LRRC56 1 5 6 0 0 0 0 0 12
AR, LOC109504725 2 0 3 4 1 0 0 0 10
VEGFA 0 0 10 0 0 0 0 0 10
KLLN, PTEN 0 0 6 0 0 0 0 0 6
BCL10 4 0 1 0 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 0 5
SMAD4 0 5 0 0 0 0 0 0 5
ATM 0 3 1 0 0 0 0 0 4
ATM, C11orf65 3 0 0 0 0 0 0 1 4
EPHB2 3 0 0 1 0 0 1 0 4
LOC130004273, PTEN 0 0 3 1 0 0 0 0 4
BRCA1 1 0 1 1 0 0 0 0 3
KLLN, LOC130004273, PTEN 0 0 2 1 0 0 0 0 3
MAPT 0 0 3 0 0 0 0 0 3
MXI1 3 0 0 0 0 0 0 0 3
NBN 0 0 2 1 0 0 0 0 3
PARD3 0 0 3 0 0 0 0 0 3
PPP2R1A 0 3 0 0 0 0 0 0 3
WDFY3 0 1 2 0 0 0 0 0 3
XPO1 0 3 0 0 0 0 0 0 3
ABCC4 0 0 2 0 0 0 0 0 2
CASC19 0 0 0 0 0 2 0 0 2
CNOT9 0 2 0 0 0 0 0 0 2
COG1 0 0 2 0 0 0 0 0 2
ERBB2 0 1 1 0 0 0 0 0 2
KDM6A 0 0 2 0 0 0 0 0 2
KIF16B 0 0 2 0 0 0 0 0 2
KPRP 0 0 2 0 0 0 0 0 2
LOC130062899, STK11 0 0 1 1 0 0 0 0 2
LRP1B 0 0 2 0 0 0 0 0 2
MACF1 0 0 2 0 0 0 0 0 2
MAP2K1 0 2 0 0 0 0 0 0 2
MED12 0 2 0 0 0 0 0 0 2
MSH6 0 1 1 0 0 0 0 0 2
MSR1 0 0 2 0 0 0 0 0 2
NRAS 0 0 2 0 0 0 0 0 2
SCRN1 0 0 2 0 0 0 0 0 2
SEZ6L 0 0 2 0 0 0 0 0 2
VCAN 0 0 2 0 0 0 0 0 2
​intergenic 0 0 0 0 0 1 0 0 1
ABCA3 0 0 1 0 0 0 0 0 1
ABCE1 0 0 1 0 0 0 0 0 1
ABCF3 0 0 1 0 0 0 0 0 1
ABCG4 0 0 1 0 0 0 0 0 1
ABTB3 0 0 1 0 0 0 0 0 1
ACRV1, CHEK1 0 0 1 0 0 0 0 0 1
ADAMTS3 0 0 1 0 0 0 0 0 1
ADAT1 0 0 1 0 0 0 0 0 1
ADRM1 0 0 1 0 0 0 0 0 1
AGBL4, BEND5 0 0 1 0 0 0 0 0 1
AGPAT2 0 0 1 0 0 0 0 0 1
AHRR, PDCD6-AHRR 0 0 1 0 0 0 0 0 1
AIFM1, RAB33A 0 0 1 0 0 0 0 0 1
AKAP1 0 0 1 0 0 0 0 0 1
AKR1C3, LOC121366038 0 0 1 0 0 0 0 0 1
AKT1 0 1 0 0 0 0 0 0 1
ALDH5A1 0 0 1 0 0 0 0 0 1
ALDH9A1 0 0 1 0 0 0 0 0 1
ANKRD12 0 0 1 0 0 0 0 0 1
ANO9 0 0 1 0 0 0 0 0 1
AP3B1 0 0 1 0 0 0 0 0 1
ARAP3 0 0 1 0 0 0 0 0 1
ARFGEF1-DT, CPA6 0 0 1 0 0 0 0 0 1
ARHGAP20 0 0 1 0 0 0 0 0 1
ARHGAP44, MYOCD 0 0 1 0 0 0 0 0 1
ARHGEF15 0 0 1 0 0 0 0 0 1
ARHGEF25 0 0 1 0 0 0 0 0 1
ARHGEF40 0 0 1 0 0 0 0 0 1
ARMC12 0 0 1 0 0 0 0 0 1
ARPP21 0 0 1 0 0 0 0 0 1
ASIC2 0 0 1 0 0 0 0 0 1
ASPRV1, LOC122757966 0 0 1 0 0 0 0 0 1
ATG13 0 0 1 0 0 0 0 0 1
ATL3, LOC126861231 0 0 1 0 0 0 0 0 1
ATP1A1 0 0 1 0 0 0 0 0 1
ATP2B4 0 0 1 0 0 0 0 0 1
ATP6V0A1 0 0 1 0 0 0 0 0 1
B3GALT1 0 0 1 0 0 0 0 0 1
BABAM2 0 0 1 0 0 0 0 0 1
BICRAL 0 0 1 0 0 0 0 0 1
BLTP2 0 0 1 0 0 0 0 0 1
BNIP5 0 0 1 0 0 0 0 0 1
BRF2 0 0 1 0 0 0 0 0 1
BTBD16 0 0 1 0 0 0 0 0 1
C10orf12, LCOR 0 0 1 0 0 0 0 0 1
C2CD6 0 0 1 0 0 0 0 0 1
C3AR1 0 0 1 0 0 0 0 0 1
C5 0 0 1 0 0 0 0 0 1
C8orf44-SGK3, SGK3 0 0 1 0 0 0 0 0 1
CABIN1 0 0 1 0 0 0 0 0 1
CACNA1D, LOC129936904 0 0 1 0 0 0 0 0 1
CADM3 0 0 1 0 0 0 0 0 1
CADPS 0 0 1 0 0 0 0 0 1
CAND1 0 0 1 0 0 0 0 0 1
CAPN6, LOC126863302 0 0 1 0 0 0 0 0 1
CASC21 0 0 0 0 0 1 0 0 1
CASC21, CASC8 0 0 0 0 0 1 0 0 1
CASC8 0 0 0 0 0 1 0 0 1
CASK, GPR82 0 0 1 0 0 0 0 0 1
CASR 0 0 1 0 0 0 0 0 1
CBX7 0 0 1 0 0 0 0 0 1
CBY1 0 0 1 0 0 0 0 0 1
CCDC171 0 0 1 0 0 0 0 0 1
CCNO-DT, DHX29 0 0 1 0 0 0 0 0 1
CD2 0 0 1 0 0 0 0 0 1
CD244 0 0 1 0 0 0 0 0 1
CD2AP 0 0 1 0 0 0 0 0 1
CDH1, LOC130059290 0 0 0 0 1 0 0 0 1
CDH3 0 0 1 0 0 0 0 0 1
CDKN2A 0 1 0 0 0 0 0 0 1
CDKN2AIP 0 0 1 0 0 0 0 0 1
CERS3 0 0 1 0 0 0 0 0 1
CFAP43 0 0 1 0 0 0 0 0 1
CFAP65 0 0 1 0 0 0 0 0 1
CHAC1 0 0 1 0 0 0 0 0 1
CHAF1B, LOC126653361 0 0 1 0 0 0 0 0 1
CHD2 0 0 1 0 0 0 0 0 1
CHGB 0 0 1 0 0 0 0 0 1
CHIC1 0 0 1 0 0 0 0 0 1
CKAP5 0 0 1 0 0 0 0 0 1
CLPTM1L 0 0 1 0 0 0 0 0 1
CNGA1, LOC101927157 0 0 1 0 0 0 0 0 1
CNTFR 0 0 1 0 0 0 0 0 1
COL1A1 0 0 1 0 0 0 0 0 1
COL24A1 0 0 1 0 0 0 0 0 1
COL5A1 0 0 1 0 0 0 0 0 1
COPS6 0 0 1 0 0 0 0 0 1
CORIN 0 0 1 0 0 0 0 0 1
CPSF7 0 0 1 0 0 0 0 0 1
CRTC3 0 0 1 0 0 0 0 0 1
CRX 0 0 1 0 0 0 0 0 1
CSMD2 0 0 1 0 0 0 0 0 1
CTRB1 0 0 1 0 0 0 0 0 1
CTSE 0 0 1 0 0 0 0 0 1
CTTNBP2 0 0 1 0 0 0 0 0 1
CYSLTR1 0 0 1 0 0 0 0 0 1
DCHS2 0 0 1 0 0 0 0 0 1
DDX50 0 0 1 0 0 0 0 0 1
DDX60 0 0 1 0 0 0 0 0 1
DDX60L 0 0 1 0 0 0 0 0 1
DEAF1 0 0 1 0 0 0 0 0 1
DGAT2L6 0 0 1 0 0 0 0 0 1
DGCR6L 0 0 1 0 0 0 0 0 1
DHDH 0 0 1 0 0 0 0 0 1
DIS3L 0 0 1 0 0 0 0 0 1
DLAT 0 0 1 0 0 0 0 0 1
DLL1 0 0 1 0 0 0 0 0 1
DNAH3 0 0 1 0 0 0 0 0 1
DNAH8 0 0 1 0 0 0 0 0 1
DNAH9, LOC126862505 0 0 1 0 0 0 0 0 1
DNAJC3 0 0 1 0 0 0 0 0 1
DNAJC6 0 0 1 0 0 0 0 0 1
DOCK2 0 0 1 0 0 0 0 0 1
DOCK5 0 0 1 0 0 0 0 0 1
DPH7 0 0 1 0 0 0 0 0 1
DPPA4 0 0 1 0 0 0 0 0 1
DPYD 0 0 1 0 0 0 0 0 1
DSCAML1 0 0 1 0 0 0 0 0 1
DYM 0 0 1 0 0 0 0 0 1
E2F1 0 0 1 0 0 0 0 0 1
EFCAB6 0 0 1 0 0 0 0 0 1
EGFR 0 1 0 0 0 0 0 0 1
EHBP1 1 0 0 0 0 0 0 0 1
EIF4G3 0 0 1 0 0 0 0 0 1
ELOA2, KATNAL2 0 0 1 0 0 0 0 0 1
EMILIN1 0 0 1 0 0 0 0 0 1
ENOX1 0 0 1 0 0 0 0 0 1
ENPP7 0 0 1 0 0 0 0 0 1
ENTPD3 0 0 1 0 0 0 0 0 1
ENTREP1 0 0 1 0 0 0 0 0 1
EPSTI1 0 0 1 0 0 0 0 0 1
ERBB3 0 0 1 0 0 0 0 0 1
ERBIN 0 0 1 0 0 0 0 0 1
EXOC2 0 0 1 0 0 0 0 0 1
EYA1 0 0 1 0 0 0 0 0 1
F2 0 0 1 0 0 0 0 0 1
F5 0 0 1 0 0 0 0 0 1
FAM13C 0 0 1 0 0 0 0 0 1
FAM83C 0 0 1 0 0 0 0 0 1
FANCA 0 0 1 0 0 0 0 0 1
FAXC 0 0 1 0 0 0 0 0 1
FBH1 0 0 1 0 0 0 0 0 1
FBN2 0 0 1 0 0 0 0 0 1
FBXL5 0 0 1 0 0 0 0 0 1
FGD2 0 0 1 0 0 0 0 0 1
FHIP1B 0 0 1 0 0 0 0 0 1
FPR1 0 0 1 0 0 0 0 0 1
FREM2 0 0 1 0 0 0 0 0 1
GABRB2 0 0 1 0 0 0 0 0 1
GABRG1 0 0 1 0 0 0 0 0 1
GAPDHS, TMEM147 0 0 1 0 0 0 0 0 1
GDF10 0 0 1 0 0 0 0 0 1
GET3 0 0 1 0 0 0 0 0 1
GFRA3 0 0 1 0 0 0 0 0 1
GLI1 0 0 1 0 0 0 0 0 1
GNGT1 0 0 1 0 0 0 0 0 1
GNPAT 0 0 1 0 0 0 0 0 1
GPHN, PIGH 0 0 1 0 0 0 0 0 1
GPR26 0 0 1 0 0 0 0 0 1
GPR55 0 0 1 0 0 0 0 0 1
GRID1 0 0 1 0 0 0 0 0 1
GRIN1 0 0 1 0 0 0 0 0 1
GRM8 0 0 1 0 0 0 0 0 1
GRWD1 0 0 1 0 0 0 0 0 1
GUSB 0 0 1 0 0 0 0 0 1
HEBP2 0 0 1 0 0 0 0 0 1
HEPACAM2 0 0 1 0 0 0 0 0 1
HHIPL1 0 0 1 0 0 0 0 0 1
HIF1A 0 0 1 0 0 0 0 0 1
HIPK4 0 0 1 0 0 0 0 0 1
HIRA 0 0 1 0 0 0 0 0 1
HLF 0 0 1 0 0 0 0 0 1
HMCN1 0 0 1 0 0 0 0 0 1
HPS3 0 0 1 0 0 0 0 0 1
HTR2C 0 0 1 0 0 0 0 0 1
HTR5A 0 0 1 0 0 0 0 0 1
IBTK 0 0 1 0 0 0 0 0 1
IFIH1 0 0 1 0 0 0 0 0 1
IFT43 0 0 1 0 0 0 0 0 1
IGF2R 0 0 1 0 0 0 0 0 1
IL33 0 0 1 0 0 0 0 0 1
IMPG2 0 0 1 0 0 0 0 0 1
ING4 0 0 1 0 0 0 0 0 1
INMT, INMT-MINDY4 0 0 1 0 0 0 0 0 1
INTS3 0 0 1 0 0 0 0 0 1
INTS8 0 0 1 0 0 0 0 0 1
IRGQ 0 0 1 0 0 0 0 0 1
ITGAD 0 0 1 0 0 0 0 0 1
ITGB6 0 0 1 0 0 0 0 0 1
ITIH5 0 0 1 0 0 0 0 0 1
ITPRIPL1 0 0 1 0 0 0 0 0 1
KAT7 0 0 1 0 0 0 0 0 1
KCNF1 0 0 1 0 0 0 0 0 1
KCNJ1 0 0 1 0 0 0 0 0 1
KCNJ4 0 0 1 0 0 0 0 0 1
KCNN3 0 0 1 0 0 0 0 0 1
KCNQ3 0 0 1 0 0 0 0 0 1
KCNQ5 0 0 1 0 0 0 0 0 1
KDM3A, LOC126806265 0 0 1 0 0 0 0 0 1
KDR 0 0 1 0 0 0 0 0 1
KIAA1755 0 0 1 0 0 0 0 0 1
KIF12 0 0 1 0 0 0 0 0 1
KIF5A 0 0 1 0 0 0 0 0 1
KIR2DL3 0 0 1 0 0 0 0 0 1
KIR3DL1 0 0 1 0 0 0 0 0 1
KIR3DL1, NLRP7 0 0 0 0 1 0 0 0 1
KLHL20 0 0 1 0 0 0 0 0 1
KMT5A 0 0 1 0 0 0 0 0 1
KNTC1 0 0 1 0 0 0 0 0 1
KRT1 0 0 1 0 0 0 0 0 1
KRT33A 0 0 1 0 0 0 0 0 1
KRT9 0 0 1 0 0 0 0 0 1
LAMA5 0 0 1 0 0 0 0 0 1
LARP1B 0 0 1 0 0 0 0 0 1
LMAN1L 0 0 1 0 0 0 0 0 1
LMLN 0 0 1 0 0 0 0 0 1
LMTK2 0 0 1 0 0 0 0 0 1
LOC101928034, S100A3 0 0 1 0 0 0 0 0 1
LOC105375751 0 0 0 0 0 1 0 0 1
LOC108021846, SOX9 0 0 1 0 0 0 0 0 1
LOC126861022, PPRC1 0 0 1 0 0 0 0 0 1
LOC126862945, ZNF772 0 0 1 0 0 0 0 0 1
LOC130004274, PTEN 0 0 1 0 0 0 0 0 1
LOC130005185, TRIM34, TRIM5 0 0 1 0 0 0 0 0 1
LONP2 0 0 1 0 0 0 0 0 1
LRP1 0 0 1 0 0 0 0 0 1
LRP6 0 0 1 0 0 0 0 0 1
LRPAP1 0 0 1 0 0 0 0 0 1
LRRC37A3 0 0 1 0 0 0 0 0 1
MAD1L1 0 0 0 0 1 0 0 0 1
MAGI2 0 0 1 0 0 0 0 0 1
MAMDC2 0 0 1 0 0 0 0 0 1
MAML1 0 0 1 0 0 0 0 0 1
MAMLD1 0 0 1 0 0 0 0 0 1
MAPK10 0 0 1 0 0 0 0 0 1
MCC 0 0 1 0 0 0 0 0 1
MDP1, NEDD8-MDP1 0 0 1 0 0 0 0 0 1
MED1 0 0 1 0 0 0 0 0 1
MRPL46 0 0 1 0 0 0 0 0 1
MSMB 0 0 0 0 0 0 1 0 1
MTBP 0 0 1 0 0 0 0 0 1
MTHFR 0 0 1 0 0 0 0 0 1
MTNAP1 0 0 1 0 0 0 0 0 1
MUC17 0 0 1 0 0 0 0 0 1
MUC6 0 0 1 0 0 0 0 0 1
MXRA5 0 0 1 0 0 0 0 0 1
MYCBP2 0 0 1 0 0 0 0 0 1
MYH3 0 0 1 0 0 0 0 0 1
MYH8, MYHAS 0 0 1 0 0 0 0 0 1
MYLK 0 0 1 0 0 0 0 0 1
MYO16 0 0 1 0 0 0 0 0 1
MYO18A 0 0 1 0 0 0 0 0 1
MYO1A 0 0 1 0 0 0 0 0 1
MYOT, PKD2L2-DT 0 0 1 0 0 0 0 0 1
MYRF 0 0 1 0 0 0 0 0 1
NAPB 0 0 1 0 0 0 0 0 1
NECAP2 0 0 1 0 0 0 0 0 1
NEK9 0 0 1 0 0 0 0 0 1
NELL1 0 0 1 0 0 0 0 0 1
NEMF 0 0 1 0 0 0 0 0 1
NETO2 0 0 1 0 0 0 0 0 1
NFKBIA 0 0 0 1 0 0 0 0 1
NHS 0 0 1 0 0 0 0 0 1
NLRP1 0 0 1 0 0 0 0 0 1
NMD3 0 0 1 0 0 0 0 0 1
NOTCH3 0 0 1 0 0 0 0 0 1
NR3C1 0 0 1 0 0 0 0 0 1
NTN4 0 0 1 0 0 0 0 0 1
NWD1 0 0 1 0 0 0 0 0 1
OIT3 0 0 1 0 0 0 0 0 1
OLA1 0 0 1 0 0 0 0 0 1
OLFML3 0 0 1 0 0 0 0 0 1
OR14A16 0 0 1 0 0 0 0 0 1
OR1S2 0 0 1 0 0 0 0 0 1
OR2T1 0 0 1 0 0 0 0 0 1
OR2Z1 0 0 1 0 0 0 0 0 1
OR4C12 0 0 1 0 0 0 0 0 1
OR5AC2 0 0 1 0 0 0 0 0 1
OR5L1 0 0 1 0 0 0 0 0 1
OR6K2 0 0 1 0 0 0 0 0 1
OR8K3 0 0 1 0 0 0 0 0 1
OXA1L 0 0 1 0 0 0 0 0 1
PAK4 0 0 1 0 0 0 0 0 1
PALM2AKAP2 0 0 1 0 0 0 0 0 1
PCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@ 0 0 1 0 0 0 0 0 1
PCDHB1, PCDHB@ 0 0 1 0 0 0 0 0 1
PCNX1 0 0 1 0 0 0 0 0 1
PDE1C 0 0 1 0 0 0 0 0 1
PDE3A 0 0 1 0 0 0 0 0 1
PDE6B 0 0 1 0 0 0 0 0 1
PDE7B 0 0 1 0 0 0 0 0 1
PDK4 0 0 1 0 0 0 0 0 1
PDP2 0 0 1 0 0 0 0 0 1
PGPEP1 0 0 1 0 0 0 0 0 1
PHF2 0 0 1 0 0 0 0 0 1
PIK3CG 0 0 1 0 0 0 0 0 1
PIK3R1 0 0 1 0 0 0 0 0 1
PITX2 0 0 1 0 0 0 0 0 1
PKD2L1 0 0 1 0 0 0 0 0 1
PKHD1 0 0 1 0 0 0 0 0 1
PLB1 0 0 1 0 0 0 0 0 1
PLCB4 0 0 1 0 0 0 0 0 1
PLEKHA4 0 0 1 0 0 0 0 0 1
PLEKHG1 0 0 1 0 0 0 0 0 1
PLEKHG4B 0 0 1 0 0 0 0 0 1
PODN 0 0 1 0 0 0 0 0 1
POLN 0 0 1 0 0 0 0 0 1
PPIP5K2 0 0 1 0 0 0 0 0 1
PPP1R3C 0 0 1 0 0 0 0 0 1
PPP2CA 0 0 1 0 0 0 0 0 1
PPP2R5C 0 0 1 0 0 0 0 0 1
PPP6R2 0 0 1 0 0 0 0 0 1
PREX2 0 0 1 0 0 0 0 0 1
PRH1, PRH1-PRR4, PRH1-TAS2R14, TAS2R20 0 0 1 0 0 0 0 0 1
PRKD1 0 0 1 0 0 0 0 0 1
PRNCR1 0 0 0 0 0 1 0 0 1
PRPH2 0 0 1 0 0 0 0 0 1
PRSS22 0 0 1 0 0 0 0 0 1
PSMC1 0 0 1 0 0 0 0 0 1
PTPN21 0 0 1 0 0 0 0 0 1
PTPN3 0 0 1 0 0 0 0 0 1
PTPRD 0 0 1 0 0 0 0 0 1
PTPRN2 0 0 1 0 0 0 0 0 1
PYCR3 0 0 1 0 0 0 0 0 1
PYHIN1 0 0 1 0 0 0 0 0 1
RAB11FIP4 0 0 1 0 0 0 0 0 1
RAC2 0 0 1 0 0 0 0 0 1
RAD50 0 0 1 0 0 0 0 0 1
RAPGEFL1 0 0 1 0 0 0 0 0 1
RAPH1 0 0 1 0 0 0 0 0 1
RASAL2 0 0 1 0 0 0 0 0 1
RBAK, RBAK-RBAKDN 0 0 1 0 0 0 0 0 1
RCC2 0 0 1 0 0 0 0 0 1
RERGL 0 0 1 0 0 0 0 0 1
RHOBTB2 0 0 1 0 0 0 0 0 1
RIPOR3 0 0 1 0 0 0 0 0 1
RLIM 0 0 1 0 0 0 0 0 1
RPL10L 0 0 1 0 0 0 0 0 1
RPS6KC1 0 0 1 0 0 0 0 0 1
RPUSD1 0 0 1 0 0 0 0 0 1
RUBCNL 0 0 1 0 0 0 0 0 1
RUNDC1 0 0 1 0 0 0 0 0 1
SAFB2 0 0 1 0 0 0 0 0 1
SBNO1 0 0 1 0 0 0 0 0 1
SCNN1A 0 0 1 0 0 0 0 0 1
SCUBE3 0 0 1 0 0 0 0 0 1
SDK1 0 0 1 0 0 0 0 0 1
SERPINB13 0 0 1 0 0 0 0 0 1
SERPINB4 0 0 1 0 0 0 0 0 1
SF3B3 0 0 1 0 0 0 0 0 1
SGSM2 0 0 1 0 0 0 0 0 1
SHCBP1L 0 0 1 0 0 0 0 0 1
SI 0 0 1 0 0 0 0 0 1
SIGLEC6 0 0 1 0 0 0 0 0 1
SKIC3 0 0 1 0 0 0 0 0 1
SKIL 0 0 1 0 0 0 0 0 1
SLC13A3 0 0 1 0 0 0 0 0 1
SLC16A2 0 0 1 0 0 0 0 0 1
SLC25A22 0 0 1 0 0 0 0 0 1
SLC25A32 0 0 1 0 0 0 0 0 1
SLC25A47 0 0 1 0 0 0 0 0 1
SLC2A4RG 0 0 1 0 0 0 0 0 1
SLC30A2 0 0 1 0 0 0 0 0 1
SLC34A1 0 0 1 0 0 0 0 0 1
SLC35C1 0 0 1 0 0 0 0 0 1
SLC35G1 0 0 1 0 0 0 0 0 1
SLC46A3 0 0 1 0 0 0 0 0 1
SLC5A2 0 0 1 0 0 0 0 0 1
SLC5A7 0 0 1 0 0 0 0 0 1
SLC6A9 0 0 1 0 0 0 0 0 1
SLC8A3 0 0 1 0 0 0 0 0 1
SMARCC2 0 0 1 0 0 0 0 0 1
SMUG1 0 0 1 0 0 0 0 0 1
SORBS1 0 0 1 0 0 0 0 0 1
SORCS1 0 0 1 0 0 0 0 0 1
SPATA18 0 0 1 0 0 0 0 0 1
SPECC1L, SPECC1L-ADORA2A 0 0 1 0 0 0 0 0 1
SSBP2 0 0 1 0 0 0 0 0 1
ST8SIA6 0 0 1 0 0 0 0 0 1
STX8 0 0 1 0 0 0 0 0 1
STXBP1 0 0 1 0 0 0 0 0 1
SUFU 0 0 1 0 0 0 0 0 1
SV2B 0 0 1 0 0 0 0 0 1
SYCP2 0 0 1 0 0 0 0 0 1
SYNGR1 0 0 1 0 0 0 0 0 1
TAOK3 0 0 1 0 0 0 0 0 1
TEX14 0 0 1 0 0 0 0 0 1
TF 0 0 1 0 0 0 0 0 1
TG 0 0 1 0 0 0 0 0 1
TGFBR3 0 0 1 0 0 0 0 0 1
THBS3 0 0 1 0 0 0 0 0 1
TMCO5A 0 0 1 0 0 0 0 0 1
TMEM183A 0 0 1 0 0 0 0 0 1
TMEM230 0 0 1 0 0 0 0 0 1
TMEM94 0 0 1 0 0 0 0 0 1
TMPRSS2 0 0 1 0 0 0 0 0 1
TNFRSF8 0 0 1 0 0 0 0 0 1
TOPORS 0 0 1 0 0 0 0 0 1
TP63 0 0 1 0 0 0 0 0 1
TRIM28 0 0 1 0 0 0 0 0 1
TRIML1 0 0 1 0 0 0 0 0 1
TRIP12 0 0 1 0 0 0 0 0 1
TRPC1 0 0 1 0 0 0 0 0 1
TRPC4 0 0 1 0 0 0 0 0 1
TRPM3 0 0 1 0 0 0 0 0 1
TRRAP 0 0 1 0 0 0 0 0 1
TSHZ3 0 0 1 0 0 0 0 0 1
TSNAXIP1 0 0 1 0 0 0 0 0 1
TSPAN5 0 0 1 0 0 0 0 0 1
TUBB3 0 0 1 0 0 0 0 0 1
ULK2 0 0 1 0 0 0 0 0 1
UMODL1 0 0 1 0 0 0 0 0 1
UNC79 0 0 1 0 0 0 0 0 1
URB2 0 0 1 0 0 0 0 0 1
USF2 0 0 1 0 0 0 0 0 1
USH2A 0 0 1 0 0 0 0 0 1
USP28 0 0 1 0 0 0 0 0 1
USP48 0 0 1 0 0 0 0 0 1
UVRAG 0 0 1 0 0 0 0 0 1
VKORC1L1 0 0 1 0 0 0 0 0 1
VNN2 0 0 1 0 0 0 0 0 1
WDR49 0 0 1 0 0 0 0 0 1
WWC3 0 0 1 0 0 0 0 0 1
YTHDC2 0 0 1 0 0 0 0 0 1
ZDHHC8 0 0 1 0 0 0 0 0 1
ZKSCAN1 0 0 1 0 0 0 0 0 1
ZMAT3 0 0 1 0 0 0 0 0 1
ZNF100 0 0 1 0 0 0 0 0 1
ZNF136 0 0 1 0 0 0 0 0 1
ZNF184 0 0 1 0 0 0 0 0 1
ZNF224, ZNF225 0 0 1 0 0 0 0 0 1
ZNF287 0 0 1 0 0 0 0 0 1
ZNF304 0 0 1 0 0 0 0 0 1
ZNF419 0 0 1 0 0 0 0 0 1
ZNF431 0 0 1 0 0 0 0 0 1
ZNF48 0 0 1 0 0 0 0 0 1
ZNF534 0 0 1 0 0 0 0 0 1
ZNF560 0 0 1 0 0 0 0 0 1
ZNF717 0 0 1 0 0 0 0 0 1
ZNF776 0 0 1 0 0 0 0 0 1
ZP4 0 0 1 0 0 0 0 0 1
ZSCAN2 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Laboratory of Virology, Microbiology, Quality and Medical Biotechnologies, Faculty of Sciences and Techniques - Mohammedia, Hassan II University of Casablanca 0 0 922 0 0 0 0 0 922
Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca 0 0 535 0 0 0 0 0 535
Fulgent Genetics, Fulgent Genetics 100 14 206 63 24 0 0 0 407
Science for Life laboratory, Karolinska Institutet 0 0 407 0 0 0 0 0 407
Database of Curated Mutations (DoCM) 0 187 0 0 0 0 0 2 189
Prostate Cancer Research Center, Institute of Biosciences and Medical Technology, University of Tampere 0 3 58 0 0 0 0 0 61
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 3 15 40 0 0 0 58
Juno Genomics, Hangzhou Juno Genomics, Inc 25 15 4 0 0 0 0 0 44
OMIM 28 0 3 0 0 0 2 0 33
Mendelics 17 1 3 0 2 0 0 0 23
Tulane Cancer Center, Tulane University 21 0 0 0 0 0 0 0 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 3 0 0 0 0 0 0 9
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 0 8 0 0 8
MGZ Medical Genetics Center 2 2 1 0 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 4 0 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 2 0 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 1 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 0 0 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 3 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 0 0 0 0 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 0 0 1
Department of Molecular and Medical Genetics, Osaka Medical Center for Cancer and Cardiovascular Diseases 0 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Anoual Laboratory of Radio-Immuno Analysis 1 0 0 0 0 0 0 0 1
3DMed Clinical Laboratory Inc 0 0 1 0 0 0 0 0 1
ACT Genomics, 0 0 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 0 0 0 1
Myriad Genetics, Inc. 0 0 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 0 0 1
Rudy L. Ruggles Biomedical Research Institute, Danbury Hospital 1 0 0 0 0 0 0 0 1
Lotan Lab, Johns Hopkins University 0 0 0 1 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 1 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 1

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