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 |
total |
|
51
|
8
|
647
|
15
|
26
|
746
|
Gene and significance breakdown #
Total genes and gene combinations: 463
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
SPOP
|
0 |
1
|
162
|
0 |
0 |
162
|
|
CDH1
|
0 |
0 |
2
|
10
|
23
|
35
|
|
POLK
|
21
|
0 |
0 |
0 |
0 |
21
|
|
AR
|
12
|
1
|
2
|
0 |
0 |
15
|
|
BRCA2
|
8
|
1
|
3
|
0 |
0 |
12
|
|
CHEK2
|
5
|
1
|
5
|
0 |
0 |
11
|
|
TP53
|
1
|
0 |
5
|
0 |
0 |
6
|
|
HOXB13
|
0 |
0 |
3
|
2
|
0 |
5
|
|
MAPT
|
0 |
0 |
3
|
0 |
0 |
3
|
|
MXI1
|
3
|
0 |
0 |
0 |
0 |
3
|
|
NBN
|
0 |
0 |
2
|
1
|
0 |
3
|
|
PARD3
|
0 |
0 |
3
|
0 |
0 |
3
|
|
WDFY3
|
0 |
1
|
2
|
0 |
0 |
3
|
|
ABCC4
|
0 |
0 |
2
|
0 |
0 |
2
|
|
AR, LOC109504725
|
1
|
0 |
1
|
0 |
0 |
2
|
|
ATM
|
0 |
1
|
1
|
0 |
0 |
2
|
|
BRCA1
|
0 |
0 |
1
|
1
|
0 |
2
|
|
COG1
|
0 |
0 |
2
|
0 |
0 |
2
|
|
KDM6A
|
0 |
0 |
2
|
0 |
0 |
2
|
|
KIF16B
|
0 |
0 |
2
|
0 |
0 |
2
|
|
KPRP
|
0 |
0 |
2
|
0 |
0 |
2
|
|
LRP1B
|
0 |
0 |
2
|
0 |
0 |
2
|
|
MACF1
|
0 |
0 |
2
|
0 |
0 |
2
|
|
MSR1
|
0 |
0 |
2
|
0 |
0 |
2
|
|
SCRN1
|
0 |
0 |
2
|
0 |
0 |
2
|
|
SEZ6L
|
0 |
0 |
2
|
0 |
0 |
2
|
|
VCAN
|
0 |
0 |
2
|
0 |
0 |
2
|
|
ABCA3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ABCE1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ABCF3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ABCG4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ABTB3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ACRV1, CHEK1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ADAMTS3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ADAT1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ADRM1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
AGBL4, BEND5
|
0 |
0 |
1
|
0 |
0 |
1
|
|
AGPAT2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
AHRR, PDCD6-AHRR
|
0 |
0 |
1
|
0 |
0 |
1
|
|
AIFM1, RAB33A
|
0 |
0 |
1
|
0 |
0 |
1
|
|
AKAP1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
AKR1C3, LOC121366038
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ALDH5A1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ALDH9A1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ANKRD12
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ANO9
|
0 |
0 |
1
|
0 |
0 |
1
|
|
AP3B1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ARAP3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ARFGEF1-DT, CPA6
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ARHGAP20
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ARHGAP44, MYOCD
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ARHGEF15
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ARHGEF25
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ARHGEF40
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ARMC12
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ARPP21
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ASIC2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ASPRV1, LOC122757966
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ATG13
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ATL3, LOC126861231
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ATP1A1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ATP2B4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ATP6V0A1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
B3GALT1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
BABAM2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
BICRAL
|
0 |
0 |
1
|
0 |
0 |
1
|
|
BLTP2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
BNIP5
|
0 |
0 |
1
|
0 |
0 |
1
|
|
BRF2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
BTBD16
|
0 |
0 |
1
|
0 |
0 |
1
|
|
C10orf12, LCOR
|
0 |
0 |
1
|
0 |
0 |
1
|
|
C2CD6
|
0 |
0 |
1
|
0 |
0 |
1
|
|
C3AR1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
C5
|
0 |
0 |
1
|
0 |
0 |
1
|
|
C8orf44-SGK3, SGK3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CABIN1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CACNA1D, LOC129936904
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CADM3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CADPS
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CAND1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CAPN6, LOC126863302
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CASK, GPR82
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CASR
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CBX7
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CBY1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CCDC171
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CCNO-DT, DHX29
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CD2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CD244
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CD2AP
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CDH1, LOC130059290
|
0 |
0 |
0 |
0 |
1
|
1
|
|
CDH3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CDKN2AIP
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CERS3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CFAP43
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CFAP65
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CHAC1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CHAF1B, LOC126653361
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CHD2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CHGB
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CHIC1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CKAP5
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CLPTM1L
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CNGA1, LOC101927157
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CNTFR
|
0 |
0 |
1
|
0 |
0 |
1
|
|
COL1A1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
COL24A1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
COL5A1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
COPS6
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CORIN
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CPSF7
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CRTC3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CRX
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CSMD2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CTNNB1, LOC126806658
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CTRB1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CTSE
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CTTNBP2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CYSLTR1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DCHS2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DDX50
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DDX60
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DDX60L
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DEAF1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DGAT2L6
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DGCR6L
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DHDH
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DIS3L
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DLAT
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DLL1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DNAH3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DNAH8
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DNAH9, LOC126862505
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DNAJC3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DNAJC6
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DOCK2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DOCK5
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DPH7
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DPPA4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DPYD
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DSCAML1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DYM
|
0 |
0 |
1
|
0 |
0 |
1
|
|
E2F1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
EFCAB6
|
0 |
0 |
1
|
0 |
0 |
1
|
|
EIF4G3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ELOA2, KATNAL2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
EMILIN1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ENOX1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ENPP7
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ENTPD3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ENTREP1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
EPSTI1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ERBB2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ERBB3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ERBIN
|
0 |
0 |
1
|
0 |
0 |
1
|
|
EXOC2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
EYA1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
F2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
F5
|
0 |
0 |
1
|
0 |
0 |
1
|
|
FAM13C
|
0 |
0 |
1
|
0 |
0 |
1
|
|
FAM83C
|
0 |
0 |
1
|
0 |
0 |
1
|
|
FANCA
|
0 |
0 |
1
|
0 |
0 |
1
|
|
FAXC
|
0 |
0 |
1
|
0 |
0 |
1
|
|
FBH1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
FBN2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
FBXL5
|
0 |
0 |
1
|
0 |
0 |
1
|
|
FGD2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
FHIP1B
|
0 |
0 |
1
|
0 |
0 |
1
|
|
FPR1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
FREM2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GABRB2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GABRG1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GAPDHS, TMEM147
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GDF10
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GET3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GFRA3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GLI1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GNGT1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GNPAT
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GPHN, PIGH
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GPR26
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GPR55
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GRID1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GRIN1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GRM8
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GRWD1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GUSB
|
0 |
0 |
1
|
0 |
0 |
1
|
|
HEBP2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
HEPACAM2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
HHIPL1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
HIF1A
|
0 |
0 |
1
|
0 |
0 |
1
|
|
HIPK4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
HIRA
|
0 |
0 |
1
|
0 |
0 |
1
|
|
HLF
|
0 |
0 |
1
|
0 |
0 |
1
|
|
HMCN1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
HPS3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
HTR2C
|
0 |
0 |
1
|
0 |
0 |
1
|
|
HTR5A
|
0 |
0 |
1
|
0 |
0 |
1
|
|
IBTK
|
0 |
0 |
1
|
0 |
0 |
1
|
|
IFIH1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
IFT43
|
0 |
0 |
1
|
0 |
0 |
1
|
|
IGF2R
|
0 |
0 |
1
|
0 |
0 |
1
|
|
IL33
|
0 |
0 |
1
|
0 |
0 |
1
|
|
IMPG2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ING4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
INMT, INMT-MINDY4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
INTS3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
INTS8
|
0 |
0 |
1
|
0 |
0 |
1
|
|
IRGQ
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ITGAD
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ITGB6
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ITIH5
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ITPRIPL1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KAT7
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KCNF1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KCNJ1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KCNJ4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KCNN3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KCNQ3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KCNQ5
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KDM3A, LOC126806265
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KDR
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KIAA1755
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KIF12
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KIF5A
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KIR2DL3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KIR3DL1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KIR3DL1, NLRP7
|
0 |
0 |
0 |
0 |
1
|
1
|
|
KLHL20
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KMT5A
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KNTC1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KRT1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KRT33A
|
0 |
0 |
1
|
0 |
0 |
1
|
|
KRT9
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LAMA5
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LARP1B
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LMAN1L
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LMLN
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LMTK2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LOC101928034, S100A3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LOC108021846, SOX9
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LOC126861022, PPRC1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LOC126862945, ZNF772
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LOC130005185, TRIM34, TRIM5
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LONP2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LRP1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LRP6
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LRPAP1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LRRC37A3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MAD1L1
|
0 |
0 |
0 |
0 |
1
|
1
|
|
MAGI2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MAMDC2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MAML1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MAMLD1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MAPK10
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MCC
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MDP1, NEDD8-MDP1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MED1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MRPL46
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MSH6
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MTBP
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MTHFR
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MTNAP1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MUC17
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MUC6
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MXRA5
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MYCBP2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MYH3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MYH8, MYHAS
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MYLK
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MYO16
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MYO18A
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MYO1A
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MYOT, PKD2L2-DT
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MYRF
|
0 |
0 |
1
|
0 |
0 |
1
|
|
NAPB
|
0 |
0 |
1
|
0 |
0 |
1
|
|
NECAP2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
NEK9
|
0 |
0 |
1
|
0 |
0 |
1
|
|
NELL1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
NEMF
|
0 |
0 |
1
|
0 |
0 |
1
|
|
NETO2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
NFKBIA
|
0 |
0 |
0 |
1
|
0 |
1
|
|
NHS
|
0 |
0 |
1
|
0 |
0 |
1
|
|
NLRP1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
NMD3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
NOTCH3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
NR3C1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
NTN4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
NWD1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
OIT3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
OLA1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
OLFML3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
OR14A16
|
0 |
0 |
1
|
0 |
0 |
1
|
|
OR1S2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
OR2T1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
OR2Z1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
OR4C12
|
0 |
0 |
1
|
0 |
0 |
1
|
|
OR5AC2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
OR5L1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
OR6K2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
OR8K3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
OXA1L
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PAK4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PALM2AKAP2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PCDHB1, PCDHB@
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PCNX1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PDE1C
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PDE3A
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PDE6B
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PDE7B
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PDK4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PDP2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PGPEP1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PHF2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PIK3CA
|
0 |
1
|
0 |
0 |
0 |
1
|
|
PIK3CG
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PIK3R1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PITX2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PKD2L1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PKHD1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PLB1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PLCB4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PLEKHA4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PLEKHG1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PLEKHG4B
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PODN
|
0 |
0 |
1
|
0 |
0 |
1
|
|
POLN
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PPIP5K2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PPP1R3C
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PPP2CA
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PPP2R5C
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PPP6R2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PREX2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PRH1, PRH1-PRR4, PRH1-TAS2R14, TAS2R20
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PRKD1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PRPH2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PRSS22
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PSMC1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PTPN21
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PTPN3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PTPRD
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PTPRN2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PYCR3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
PYHIN1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RAB11FIP4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RAC2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RAD50
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RAPGEFL1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RAPH1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RASAL2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RBAK, RBAK-RBAKDN
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RCC2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RERGL
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RHOBTB2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RIPOR3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RLIM
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RNASEL
|
0 |
1
|
0 |
0 |
0 |
1
|
|
RPL10L
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RPS6KC1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RPUSD1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RUBCNL
|
0 |
0 |
1
|
0 |
0 |
1
|
|
RUNDC1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SAFB2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SBNO1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SCNN1A
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SCUBE3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SDK1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SERPINB13
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SERPINB4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SF3B3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SGSM2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SHCBP1L
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SI
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SIGLEC6
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SKIC3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SKIL
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SLC13A3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SLC16A2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SLC25A22
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SLC25A32
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SLC25A47
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SLC2A4RG
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SLC30A2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SLC34A1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SLC35C1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SLC35G1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SLC46A3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SLC5A2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SLC5A7
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SLC6A9
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SLC8A3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SMARCC2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SMUG1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SORBS1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SORCS1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SPATA18
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SPECC1L, SPECC1L-ADORA2A
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SSBP2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ST8SIA6
|
0 |
0 |
1
|
0 |
0 |
1
|
|
STX8
|
0 |
0 |
1
|
0 |
0 |
1
|
|
STXBP1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SUFU
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SV2B
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SYCP2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SYNGR1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TAOK3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TEX14
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TF
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TG
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TGFBR3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
THBS3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TMCO5A
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TMEM183A
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TMEM230
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TMEM94
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TMPRSS2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TNFRSF8
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TOPORS
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TP63
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TRIM28
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TRIML1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TRIP12
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TRPC1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TRPC4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TRPM3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TRRAP
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TSHZ3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TSNAXIP1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TSPAN5
|
0 |
0 |
1
|
0 |
0 |
1
|
|
TUBB3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ULK2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
UMODL1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
UNC79
|
0 |
0 |
1
|
0 |
0 |
1
|
|
URB2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
USF2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
USH2A
|
0 |
0 |
1
|
0 |
0 |
1
|
|
USP28
|
0 |
0 |
1
|
0 |
0 |
1
|
|
USP48
|
0 |
0 |
1
|
0 |
0 |
1
|
|
UVRAG
|
0 |
0 |
1
|
0 |
0 |
1
|
|
VKORC1L1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
VNN2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
WDR49
|
0 |
0 |
1
|
0 |
0 |
1
|
|
WWC3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
YTHDC2
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZDHHC8
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZKSCAN1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZMAT3
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZNF100
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZNF136
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZNF184
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZNF224, ZNF225
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZNF287
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZNF304
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZNF419
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZNF431
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZNF48
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZNF534
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZNF560
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZNF717
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZNF776
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZP4
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ZSCAN2
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Science for Life laboratory, Karolinska Institutet
|
0 |
0 |
407
|
0 |
0 |
407
|
|
Laboratory of Virology, Microbiology, Quality and Medical Biotechnologies, Faculty of Sciences and Techniques - Mohammedia, Hassan II University of Casablanca
|
0 |
0 |
160
|
0 |
0 |
160
|
|
Prostate Cancer Research Center, Institute of Biosciences and Medical Technology, University of Tampere
|
0 |
3
|
58
|
0 |
0 |
61
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
2
|
10
|
23
|
35
|
|
Tulane Cancer Center, Tulane University
|
21
|
0 |
0 |
0 |
0 |
21
|
|
Mendelics
|
13
|
1
|
3
|
0 |
2
|
19
|
|
OMIM
|
6
|
0 |
5
|
0 |
0 |
11
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
3
|
2
|
0 |
5
|
|
MGZ Medical Genetics Center
|
2
|
1
|
1
|
0 |
0 |
4
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
1
|
1
|
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Anoual Laboratory of Radio-Immuno Analysis
|
1
|
0 |
0 |
0 |
0 |
1
|
|
3DMed Clinical Laboratory Inc
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ACT Genomics,
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
1
|
0 |
0 |
0 |
1
|
|
University Health Network, Princess Margaret Cancer Centre
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Lotan Lab, Johns Hopkins University
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
1
|
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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. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.