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 |
| 0 |
0 |
407
|
0 |
0 |
407
|
Gene and significance breakdown #
Total genes and gene combinations: 389
| Gene or gene combination |
uncertain significance |
total |
|
TP53
|
5
|
5
|
|
MAPT
|
3
|
3
|
|
PARD3
|
3
|
3
|
|
COG1
|
2
|
2
|
|
KDM6A
|
2
|
2
|
|
KIF16B
|
2
|
2
|
|
KPRP
|
2
|
2
|
|
LRP1B
|
2
|
2
|
|
MACF1
|
2
|
2
|
|
SEZ6L
|
2
|
2
|
|
SPOP
|
2
|
2
|
|
VCAN
|
2
|
2
|
|
WDFY3
|
2
|
2
|
|
ABCA3
|
1
|
1
|
|
ABCC4
|
1
|
1
|
|
ABCE1
|
1
|
1
|
|
ABCF3
|
1
|
1
|
|
ABCG4
|
1
|
1
|
|
ACRV1, CHEK1
|
1
|
1
|
|
ADAMTS3
|
1
|
1
|
|
ADAT1
|
1
|
1
|
|
ADRM1
|
1
|
1
|
|
AGBL4, BEND5
|
1
|
1
|
|
AGPAT2
|
1
|
1
|
|
AIFM1, RAB33A
|
1
|
1
|
|
AKAP1
|
1
|
1
|
|
AKR1C3, LOC121366038
|
1
|
1
|
|
ALDH5A1
|
1
|
1
|
|
ANO9
|
1
|
1
|
|
AP3B1
|
1
|
1
|
|
ARAP3
|
1
|
1
|
|
ARFGEF1-DT, CPA6
|
1
|
1
|
|
ARHGAP20
|
1
|
1
|
|
ARHGAP44, MYOCD
|
1
|
1
|
|
ARHGEF15
|
1
|
1
|
|
ARHGEF25
|
1
|
1
|
|
ARMC12
|
1
|
1
|
|
ARPP21
|
1
|
1
|
|
ASIC2
|
1
|
1
|
|
ASPRV1, LOC122757966
|
1
|
1
|
|
ATG13
|
1
|
1
|
|
ATP1A1
|
1
|
1
|
|
ATP2B4
|
1
|
1
|
|
ATP6V0A1
|
1
|
1
|
|
B3GALT1
|
1
|
1
|
|
BABAM2
|
1
|
1
|
|
BICRAL
|
1
|
1
|
|
BLTP2
|
1
|
1
|
|
BNIP5
|
1
|
1
|
|
BRF2
|
1
|
1
|
|
BTBD16
|
1
|
1
|
|
C3AR1
|
1
|
1
|
|
C5
|
1
|
1
|
|
C8orf44-SGK3, SGK3
|
1
|
1
|
|
CABIN1
|
1
|
1
|
|
CACNA1D, LOC129936904
|
1
|
1
|
|
CADM3
|
1
|
1
|
|
CADPS
|
1
|
1
|
|
CAND1
|
1
|
1
|
|
CAPN6, LOC126863302
|
1
|
1
|
|
CASK, GPR82
|
1
|
1
|
|
CASR
|
1
|
1
|
|
CATSPERT
|
1
|
1
|
|
CBX7
|
1
|
1
|
|
CBY1
|
1
|
1
|
|
CCDC171
|
1
|
1
|
|
CCNO-DT, DHX29
|
1
|
1
|
|
CD244
|
1
|
1
|
|
CDH3
|
1
|
1
|
|
CDKN2AIP
|
1
|
1
|
|
CERS3
|
1
|
1
|
|
CFAP43
|
1
|
1
|
|
CFAP65
|
1
|
1
|
|
CHAC1
|
1
|
1
|
|
CHAF1B, LOC126653361
|
1
|
1
|
|
CHD2
|
1
|
1
|
|
CHGB
|
1
|
1
|
|
CKAP5
|
1
|
1
|
|
CLPTM1L
|
1
|
1
|
|
CNTFR
|
1
|
1
|
|
COL1A1
|
1
|
1
|
|
COL5A1
|
1
|
1
|
|
COPS6
|
1
|
1
|
|
CORIN
|
1
|
1
|
|
CPSF7
|
1
|
1
|
|
CRTC3
|
1
|
1
|
|
CRX
|
1
|
1
|
|
CSMD2
|
1
|
1
|
|
CTNNB1, LOC126806658
|
1
|
1
|
|
CTRB1
|
1
|
1
|
|
CTSE
|
1
|
1
|
|
CYSLTR1
|
1
|
1
|
|
DCHS2
|
1
|
1
|
|
DEAF1
|
1
|
1
|
|
DGAT2L6
|
1
|
1
|
|
DGCR6L
|
1
|
1
|
|
DIS3L
|
1
|
1
|
|
DLAT
|
1
|
1
|
|
DLL1
|
1
|
1
|
|
DNAH3
|
1
|
1
|
|
DNAH8
|
1
|
1
|
|
DNAH9, LOC126862505
|
1
|
1
|
|
DPH7
|
1
|
1
|
|
DPPA4
|
1
|
1
|
|
DPYD
|
1
|
1
|
|
DSCAML1
|
1
|
1
|
|
DYM
|
1
|
1
|
|
EFCAB6
|
1
|
1
|
|
EIF4G3
|
1
|
1
|
|
ELOA2, KATNAL2
|
1
|
1
|
|
ENOX1
|
1
|
1
|
|
ENPP7
|
1
|
1
|
|
ENTPD3
|
1
|
1
|
|
ENTREP1
|
1
|
1
|
|
ERBB2
|
1
|
1
|
|
ERBB3
|
1
|
1
|
|
ERBIN
|
1
|
1
|
|
EXOC2
|
1
|
1
|
|
EYA1
|
1
|
1
|
|
F2
|
1
|
1
|
|
F5
|
1
|
1
|
|
FAM13C
|
1
|
1
|
|
FAM83C
|
1
|
1
|
|
FAXC
|
1
|
1
|
|
FBH1
|
1
|
1
|
|
FBN2
|
1
|
1
|
|
FGD2
|
1
|
1
|
|
FPR1
|
1
|
1
|
|
FREM2
|
1
|
1
|
|
GABRB2
|
1
|
1
|
|
GABRG1
|
1
|
1
|
|
GAPDHS, TMEM147
|
1
|
1
|
|
GDF10
|
1
|
1
|
|
GFRA3
|
1
|
1
|
|
GLI1
|
1
|
1
|
|
GNGT1
|
1
|
1
|
|
GNPAT
|
1
|
1
|
|
GPHN, PIGH
|
1
|
1
|
|
GPR26
|
1
|
1
|
|
GPR55
|
1
|
1
|
|
GRIN1
|
1
|
1
|
|
GRM8
|
1
|
1
|
|
GRWD1
|
1
|
1
|
|
GUSB
|
1
|
1
|
|
HEBP2
|
1
|
1
|
|
HEPACAM2
|
1
|
1
|
|
HHIPL1
|
1
|
1
|
|
HIF1A
|
1
|
1
|
|
HIPK4
|
1
|
1
|
|
HIRA
|
1
|
1
|
|
HLF
|
1
|
1
|
|
HMCN1
|
1
|
1
|
|
HPS3
|
1
|
1
|
|
HTR2C
|
1
|
1
|
|
HTR5A
|
1
|
1
|
|
IBTK
|
1
|
1
|
|
IFIH1
|
1
|
1
|
|
IFT43
|
1
|
1
|
|
IGF2R
|
1
|
1
|
|
IL33
|
1
|
1
|
|
IMPG2
|
1
|
1
|
|
ING4
|
1
|
1
|
|
INMT, INMT-MINDY4
|
1
|
1
|
|
INTS3
|
1
|
1
|
|
INTS8
|
1
|
1
|
|
IRGQ
|
1
|
1
|
|
ITGAD
|
1
|
1
|
|
ITGB6
|
1
|
1
|
|
ITIH5
|
1
|
1
|
|
ITPRIPL1
|
1
|
1
|
|
KAT7
|
1
|
1
|
|
KCNF1
|
1
|
1
|
|
KCNJ1
|
1
|
1
|
|
KCNJ4
|
1
|
1
|
|
KCNN3
|
1
|
1
|
|
KCNQ3
|
1
|
1
|
|
KCNQ5
|
1
|
1
|
|
KDM3A, LOC126806265
|
1
|
1
|
|
KDR
|
1
|
1
|
|
KIAA1755
|
1
|
1
|
|
KIF12
|
1
|
1
|
|
KIF5A
|
1
|
1
|
|
KIR2DL3
|
1
|
1
|
|
KIR3DL1
|
1
|
1
|
|
KLHL20
|
1
|
1
|
|
KMT5A
|
1
|
1
|
|
KRT1
|
1
|
1
|
|
KRT33A
|
1
|
1
|
|
KRT9
|
1
|
1
|
|
LAMA5
|
1
|
1
|
|
LARP1B
|
1
|
1
|
|
LMAN1L
|
1
|
1
|
|
LMLN
|
1
|
1
|
|
LOC101928034, S100A3
|
1
|
1
|
|
LOC108021846, SOX9
|
1
|
1
|
|
LOC126861022, PPRC1
|
1
|
1
|
|
LOC126862945, ZNF772
|
1
|
1
|
|
LOC130005185, TRIM34, TRIM5
|
1
|
1
|
|
LONP2
|
1
|
1
|
|
LRP6
|
1
|
1
|
|
LRPAP1
|
1
|
1
|
|
LRRC37A3
|
1
|
1
|
|
MAGI2
|
1
|
1
|
|
MAMDC2
|
1
|
1
|
|
MAML1
|
1
|
1
|
|
MAMLD1
|
1
|
1
|
|
MAPK10
|
1
|
1
|
|
MDP1, NEDD8-MDP1
|
1
|
1
|
|
MED1
|
1
|
1
|
|
MRPL46
|
1
|
1
|
|
MTBP
|
1
|
1
|
|
MTHFR
|
1
|
1
|
|
MUC17
|
1
|
1
|
|
MUC6
|
1
|
1
|
|
MXRA5
|
1
|
1
|
|
MYCBP2
|
1
|
1
|
|
MYH3
|
1
|
1
|
|
MYH8, MYHAS
|
1
|
1
|
|
MYLK
|
1
|
1
|
|
MYO16
|
1
|
1
|
|
MYO1A
|
1
|
1
|
|
MYOT, PKD2L2-DT
|
1
|
1
|
|
MYRF
|
1
|
1
|
|
NAPB
|
1
|
1
|
|
NBN
|
1
|
1
|
|
NECAP2
|
1
|
1
|
|
NEK9
|
1
|
1
|
|
NELL1
|
1
|
1
|
|
NETO2
|
1
|
1
|
|
NHS
|
1
|
1
|
|
NLRP1
|
1
|
1
|
|
NMD3
|
1
|
1
|
|
NOTCH3
|
1
|
1
|
|
NR3C1
|
1
|
1
|
|
NTN4
|
1
|
1
|
|
NWD1
|
1
|
1
|
|
OLA1
|
1
|
1
|
|
OLFML3
|
1
|
1
|
|
OR14A16
|
1
|
1
|
|
OR1S2
|
1
|
1
|
|
OR2T1
|
1
|
1
|
|
OR2Z1
|
1
|
1
|
|
OR4C12
|
1
|
1
|
|
OR5AC2
|
1
|
1
|
|
OR5L1
|
1
|
1
|
|
OR6K2
|
1
|
1
|
|
OR8K3
|
1
|
1
|
|
OXA1L
|
1
|
1
|
|
PAK4
|
1
|
1
|
|
PALM2AKAP2
|
1
|
1
|
|
PCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@
|
1
|
1
|
|
PCDHB1, PCDHB@
|
1
|
1
|
|
PCNX1
|
1
|
1
|
|
PDE1C
|
1
|
1
|
|
PDE6B
|
1
|
1
|
|
PDE7B
|
1
|
1
|
|
PDP2
|
1
|
1
|
|
PGPEP1
|
1
|
1
|
|
PHF2
|
1
|
1
|
|
PIK3R1
|
1
|
1
|
|
PITX2
|
1
|
1
|
|
PKD2L1
|
1
|
1
|
|
PKHD1
|
1
|
1
|
|
PLB1
|
1
|
1
|
|
PLCB4
|
1
|
1
|
|
PLEKHA4
|
1
|
1
|
|
PLEKHG1
|
1
|
1
|
|
PLEKHG4B
|
1
|
1
|
|
PODN
|
1
|
1
|
|
POLN
|
1
|
1
|
|
PPP1R3C
|
1
|
1
|
|
PPP2R5C
|
1
|
1
|
|
PPP6R2
|
1
|
1
|
|
PREX2
|
1
|
1
|
|
PRH1, PRH1-PRR4, PRH1-TAS2R14, TAS2R20
|
1
|
1
|
|
PRKD1
|
1
|
1
|
|
PRPH2
|
1
|
1
|
|
PRSS22
|
1
|
1
|
|
PSMC1
|
1
|
1
|
|
PTPN21
|
1
|
1
|
|
PTPN3
|
1
|
1
|
|
PTPRD
|
1
|
1
|
|
PTPRN2
|
1
|
1
|
|
PYCR3
|
1
|
1
|
|
PYHIN1
|
1
|
1
|
|
RAB11FIP4
|
1
|
1
|
|
RAC2
|
1
|
1
|
|
RAD50
|
1
|
1
|
|
RAPH1
|
1
|
1
|
|
RASAL2
|
1
|
1
|
|
RBAK, RBAK-RBAKDN
|
1
|
1
|
|
RERGL
|
1
|
1
|
|
RHOBTB2
|
1
|
1
|
|
RIPOR3
|
1
|
1
|
|
RLIM
|
1
|
1
|
|
RPL10L
|
1
|
1
|
|
RPS6KC1
|
1
|
1
|
|
RPUSD1
|
1
|
1
|
|
RUBCNL
|
1
|
1
|
|
SAFB2
|
1
|
1
|
|
SBNO1
|
1
|
1
|
|
SCNN1A
|
1
|
1
|
|
SCRN1
|
1
|
1
|
|
SCUBE3
|
1
|
1
|
|
SDK1
|
1
|
1
|
|
SERPINB4
|
1
|
1
|
|
SF3B3
|
1
|
1
|
|
SHCBP1L
|
1
|
1
|
|
SI
|
1
|
1
|
|
SKIC3
|
1
|
1
|
|
SKIL
|
1
|
1
|
|
SLC13A3
|
1
|
1
|
|
SLC16A2
|
1
|
1
|
|
SLC25A22
|
1
|
1
|
|
SLC25A47
|
1
|
1
|
|
SLC2A4RG
|
1
|
1
|
|
SLC34A1
|
1
|
1
|
|
SLC35C1
|
1
|
1
|
|
SLC35G1
|
1
|
1
|
|
SLC46A3
|
1
|
1
|
|
SLC5A2
|
1
|
1
|
|
SLC5A7
|
1
|
1
|
|
SLC6A9
|
1
|
1
|
|
SLC8A3
|
1
|
1
|
|
SMUG1
|
1
|
1
|
|
SORBS1
|
1
|
1
|
|
SORCS1
|
1
|
1
|
|
SPATA18
|
1
|
1
|
|
SPECC1L, SPECC1L-ADORA2A
|
1
|
1
|
|
SSBP2
|
1
|
1
|
|
ST8SIA6
|
1
|
1
|
|
STX8
|
1
|
1
|
|
STXBP1
|
1
|
1
|
|
SUFU
|
1
|
1
|
|
SV2B
|
1
|
1
|
|
SYCP2
|
1
|
1
|
|
SYNGR1
|
1
|
1
|
|
TEX14
|
1
|
1
|
|
TF
|
1
|
1
|
|
TG
|
1
|
1
|
|
TGFBR3
|
1
|
1
|
|
THBS3
|
1
|
1
|
|
TMCO5A
|
1
|
1
|
|
TMEM183A
|
1
|
1
|
|
TMEM230
|
1
|
1
|
|
TMEM94
|
1
|
1
|
|
TMPRSS2
|
1
|
1
|
|
TNFRSF8
|
1
|
1
|
|
TOPORS
|
1
|
1
|
|
TP63
|
1
|
1
|
|
TRIM28
|
1
|
1
|
|
TRIML1
|
1
|
1
|
|
TRIP12
|
1
|
1
|
|
TRPC1
|
1
|
1
|
|
TRPC4
|
1
|
1
|
|
TRPM3
|
1
|
1
|
|
TRRAP
|
1
|
1
|
|
TSHZ3
|
1
|
1
|
|
TSNAXIP1
|
1
|
1
|
|
TSPAN5
|
1
|
1
|
|
ULK2
|
1
|
1
|
|
UNC79
|
1
|
1
|
|
URB2
|
1
|
1
|
|
USF2
|
1
|
1
|
|
USH2A
|
1
|
1
|
|
USP28
|
1
|
1
|
|
USP48
|
1
|
1
|
|
VKORC1L1
|
1
|
1
|
|
WDR49
|
1
|
1
|
|
WWC3
|
1
|
1
|
|
YTHDC2
|
1
|
1
|
|
ZDHHC8
|
1
|
1
|
|
ZKSCAN1
|
1
|
1
|
|
ZMAT3
|
1
|
1
|
|
ZNF100
|
1
|
1
|
|
ZNF136
|
1
|
1
|
|
ZNF184
|
1
|
1
|
|
ZNF224, ZNF225
|
1
|
1
|
|
ZNF287
|
1
|
1
|
|
ZNF304
|
1
|
1
|
|
ZNF419
|
1
|
1
|
|
ZNF431
|
1
|
1
|
|
ZNF48
|
1
|
1
|
|
ZNF534
|
1
|
1
|
|
ZNF560
|
1
|
1
|
|
ZNF717
|
1
|
1
|
|
ZNF776
|
1
|
1
|
|
ZP4
|
1
|
1
|
|
ZSCAN2
|
1
|
1
|
Condition and significance breakdown #
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.