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 |
331
|
238
|
254
|
11
|
0 |
834
|
Gene and significance breakdown #
Total genes and gene combinations: 423
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
total |
SRRM2
|
19
|
0 |
0 |
0 |
19
|
CAMK2A
|
8
|
2
|
1
|
0 |
11
|
BAP1
|
10
|
0 |
0 |
0 |
10
|
ANKRD11
|
5
|
4
|
0 |
0 |
9
|
DDX3X
|
5
|
2
|
2
|
0 |
9
|
MED13L
|
8
|
0 |
1
|
0 |
9
|
ACSM3, THUMPD1
|
7
|
1
|
0 |
0 |
8
|
CAMK2B
|
5
|
2
|
1
|
0 |
8
|
CAMK2D
|
8
|
0 |
0 |
0 |
8
|
SCN8A
|
2
|
3
|
3
|
0 |
8
|
ACTB
|
1
|
5
|
1
|
0 |
7
|
CHD8
|
5
|
2
|
0 |
0 |
7
|
EHMT1
|
1
|
1
|
5
|
0 |
7
|
CSNK2A1
|
3
|
0 |
3
|
0 |
6
|
KMT2A
|
2
|
3
|
1
|
0 |
6
|
MECP2
|
5
|
1
|
0 |
0 |
6
|
MYT1L
|
2
|
3
|
1
|
0 |
6
|
POGZ
|
3
|
1
|
2
|
0 |
6
|
SETD5
|
4
|
1
|
1
|
0 |
6
|
WNK3
|
6
|
0 |
0 |
0 |
6
|
ZEB2
|
3
|
2
|
0 |
1
|
6
|
ARID1B
|
1
|
3
|
1
|
0 |
5
|
ASH1L
|
3
|
1
|
1
|
0 |
5
|
CC2D2A
|
4
|
0 |
1
|
0 |
5
|
CHD2
|
3
|
2
|
0 |
0 |
5
|
CREBBP
|
3
|
1
|
1
|
0 |
5
|
DNMT3A
|
3
|
1
|
1
|
0 |
5
|
GRIN2B
|
1
|
3
|
1
|
0 |
5
|
KDM6A
|
3
|
1
|
1
|
0 |
5
|
KMT2D
|
3
|
0 |
2
|
0 |
5
|
NAA15
|
1
|
3
|
1
|
0 |
5
|
SCN2A
|
1
|
1
|
3
|
0 |
5
|
SLC6A1
|
2
|
2
|
1
|
0 |
5
|
SYNGAP1
|
3
|
1
|
1
|
0 |
5
|
USP9X
|
1
|
1
|
2
|
1
|
5
|
ASXL3
|
3
|
0 |
1
|
0 |
4
|
CASK
|
3
|
0 |
1
|
0 |
4
|
DIP2C
|
0 |
0 |
4
|
0 |
4
|
GRIN2A
|
0 |
2
|
2
|
0 |
4
|
KMT2C
|
2
|
0 |
1
|
1
|
4
|
SETD1B
|
1
|
2
|
1
|
0 |
4
|
SHANK3
|
3
|
1
|
0 |
0 |
4
|
SMARCA4
|
1
|
0 |
2
|
1
|
4
|
SMARCB1
|
1
|
1
|
2
|
0 |
4
|
SPTAN1
|
0 |
1
|
3
|
0 |
4
|
SPTBN1
|
0 |
2
|
2
|
0 |
4
|
STAG1
|
1
|
2
|
1
|
0 |
4
|
TAOK1
|
2
|
1
|
1
|
0 |
4
|
TRIO
|
3
|
0 |
1
|
0 |
4
|
ZBTB20
|
0 |
2
|
1
|
1
|
4
|
ZMYM2
|
1
|
3
|
0 |
0 |
4
|
ADNP
|
2
|
1
|
0 |
0 |
3
|
AP4S1
|
2
|
1
|
0 |
0 |
3
|
ARID2
|
2
|
1
|
0 |
0 |
3
|
ASL
|
1
|
2
|
0 |
0 |
3
|
ATP2B1
|
0 |
1
|
2
|
0 |
3
|
CHD4
|
1
|
0 |
2
|
0 |
3
|
CHD7
|
1
|
0 |
2
|
0 |
3
|
CLCN4
|
0 |
0 |
3
|
0 |
3
|
CTNNB1, LOC126806659
|
2
|
0 |
1
|
0 |
3
|
CUL3
|
0 |
3
|
0 |
0 |
3
|
CUX1
|
2
|
1
|
0 |
0 |
3
|
DYNC1H1
|
0 |
2
|
1
|
0 |
3
|
DYRK1A
|
1
|
0 |
2
|
0 |
3
|
EBF3
|
1
|
1
|
1
|
0 |
3
|
EP300
|
1
|
0 |
2
|
0 |
3
|
FOXG1
|
3
|
0 |
0 |
0 |
3
|
GNB1
|
2
|
1
|
0 |
0 |
3
|
HUWE1
|
0 |
1
|
2
|
0 |
3
|
IGF1R
|
0 |
2
|
1
|
0 |
3
|
IQSEC2
|
0 |
1
|
1
|
1
|
3
|
ITPR1
|
2
|
1
|
0 |
0 |
3
|
KAT6A
|
2
|
1
|
0 |
0 |
3
|
KCNA2
|
2
|
1
|
0 |
0 |
3
|
NSD1
|
2
|
1
|
0 |
0 |
3
|
RERE
|
0 |
2
|
1
|
0 |
3
|
SATB2
|
1
|
2
|
0 |
0 |
3
|
SETD2
|
1
|
0 |
2
|
0 |
3
|
SLC6A8
|
1
|
1
|
1
|
0 |
3
|
TLK2
|
0 |
2
|
1
|
0 |
3
|
TRIP12
|
1
|
1
|
1
|
0 |
3
|
TUBB2A
|
0 |
2
|
1
|
0 |
3
|
WAC
|
1
|
1
|
1
|
0 |
3
|
AARS1
|
0 |
2
|
0 |
0 |
2
|
AFG2A
|
1
|
1
|
0 |
0 |
2
|
AGRN
|
1
|
1
|
0 |
0 |
2
|
AHDC1
|
2
|
0 |
0 |
0 |
2
|
ALG13
|
1
|
0 |
1
|
0 |
2
|
ALPK3
|
2
|
0 |
0 |
0 |
2
|
ARSA
|
1
|
1
|
0 |
0 |
2
|
ATRIP, ATRIP-TREX1, TREX1
|
1
|
1
|
0 |
0 |
2
|
ATRX
|
0 |
1
|
1
|
0 |
2
|
BCS1L
|
1
|
1
|
0 |
0 |
2
|
BPTF
|
0 |
1
|
1
|
0 |
2
|
BRPF1
|
0 |
1
|
1
|
0 |
2
|
CAMTA1
|
0 |
2
|
0 |
0 |
2
|
CDK13
|
1
|
1
|
0 |
0 |
2
|
CENPF
|
0 |
0 |
2
|
0 |
2
|
CIC
|
0 |
0 |
2
|
0 |
2
|
CLN6
|
0 |
2
|
0 |
0 |
2
|
CLPB
|
0 |
0 |
2
|
0 |
2
|
COG4
|
0 |
1
|
1
|
0 |
2
|
CSNK2B
|
2
|
0 |
0 |
0 |
2
|
CTSF
|
0 |
2
|
0 |
0 |
2
|
DCX
|
1
|
0 |
1
|
0 |
2
|
DEAF1
|
0 |
1
|
1
|
0 |
2
|
EFTUD2
|
1
|
1
|
0 |
0 |
2
|
EP400
|
0 |
0 |
2
|
0 |
2
|
FBXL4
|
1
|
1
|
0 |
0 |
2
|
FBXO11
|
0 |
1
|
1
|
0 |
2
|
FBXW7
|
0 |
2
|
0 |
0 |
2
|
FCSK
|
0 |
0 |
2
|
0 |
2
|
FOXP1
|
0 |
2
|
0 |
0 |
2
|
GBA2
|
0 |
2
|
0 |
0 |
2
|
H1-4
|
1
|
1
|
0 |
0 |
2
|
HERC1
|
0 |
0 |
2
|
0 |
2
|
IGHMBP2
|
1
|
1
|
0 |
0 |
2
|
JARID2
|
1
|
1
|
0 |
0 |
2
|
KAT6B
|
2
|
0 |
0 |
0 |
2
|
KCNH1
|
1
|
1
|
0 |
0 |
2
|
KCNQ2
|
1
|
1
|
0 |
0 |
2
|
KDM3B
|
1
|
0 |
1
|
0 |
2
|
KDM5C
|
1
|
0 |
1
|
0 |
2
|
KIAA0586
|
2
|
0 |
0 |
0 |
2
|
KMT2E
|
0 |
1
|
1
|
0 |
2
|
KMT5B
|
0 |
1
|
1
|
0 |
2
|
LMBRD2
|
0 |
2
|
0 |
0 |
2
|
LONP1
|
0 |
1
|
1
|
0 |
2
|
MAGEL2
|
1
|
0 |
1
|
0 |
2
|
MAN1B1
|
1
|
1
|
0 |
0 |
2
|
MED13
|
0 |
1
|
1
|
0 |
2
|
MED25
|
0 |
1
|
1
|
0 |
2
|
MEF2C
|
2
|
0 |
0 |
0 |
2
|
MICU1
|
2
|
0 |
0 |
0 |
2
|
NAA10
|
1
|
0 |
1
|
0 |
2
|
NBAS
|
1
|
0 |
1
|
0 |
2
|
NBEA
|
0 |
0 |
2
|
0 |
2
|
NEXMIF
|
2
|
0 |
0 |
0 |
2
|
NFIA
|
0 |
2
|
0 |
0 |
2
|
NFIB
|
0 |
0 |
2
|
0 |
2
|
NIPBL
|
0 |
1
|
1
|
0 |
2
|
NRAS
|
0 |
0 |
1
|
1
|
2
|
PACS1
|
1
|
0 |
1
|
0 |
2
|
PAK3
|
1
|
1
|
0 |
0 |
2
|
PEX6
|
2
|
0 |
0 |
0 |
2
|
PEX7
|
2
|
0 |
0 |
0 |
2
|
PGAP1
|
0 |
0 |
2
|
0 |
2
|
POMGNT1, TSPAN1
|
1
|
1
|
0 |
0 |
2
|
PPP2R1A
|
0 |
2
|
0 |
0 |
2
|
PQBP1
|
1
|
0 |
1
|
0 |
2
|
PSMD12
|
1
|
0 |
1
|
0 |
2
|
PTCHD1
|
0 |
0 |
2
|
0 |
2
|
PTPN11
|
2
|
0 |
0 |
0 |
2
|
RAI1
|
0 |
1
|
1
|
0 |
2
|
RFX3
|
0 |
1
|
1
|
0 |
2
|
RORA
|
0 |
2
|
0 |
0 |
2
|
SATB1
|
0 |
1
|
1
|
0 |
2
|
SETBP1
|
0 |
1
|
0 |
1
|
2
|
SGSH
|
0 |
0 |
2
|
0 |
2
|
SHMT2
|
0 |
2
|
0 |
0 |
2
|
SMARCC2
|
0 |
1
|
1
|
0 |
2
|
SNX14
|
0 |
1
|
1
|
0 |
2
|
SOX6
|
0 |
2
|
0 |
0 |
2
|
STAG2
|
0 |
1
|
1
|
0 |
2
|
STX1B
|
1
|
0 |
1
|
0 |
2
|
STXBP1
|
1
|
1
|
0 |
0 |
2
|
SYT1
|
0 |
1
|
1
|
0 |
2
|
TARS2
|
0 |
0 |
2
|
0 |
2
|
TBL1XR1
|
0 |
2
|
0 |
0 |
2
|
TBR1
|
0 |
1
|
1
|
0 |
2
|
THRA
|
0 |
1
|
1
|
0 |
2
|
TRAPPC9
|
0 |
0 |
2
|
0 |
2
|
TRRAP
|
0 |
0 |
2
|
0 |
2
|
TUBB
|
0 |
2
|
0 |
0 |
2
|
UPF3B
|
0 |
1
|
1
|
0 |
2
|
WDFY3
|
0 |
0 |
2
|
0 |
2
|
YY1
|
0 |
1
|
1
|
0 |
2
|
ZNF292
|
2
|
0 |
0 |
0 |
2
|
ZNF335
|
1
|
0 |
1
|
0 |
2
|
AAAS
|
1
|
0 |
0 |
0 |
1
|
ABHD16A
|
0 |
0 |
1
|
0 |
1
|
ACSM3, LOC130058602, THUMPD1
|
0 |
0 |
1
|
0 |
1
|
ACTG1
|
0 |
0 |
0 |
1
|
1
|
ADGRL1
|
0 |
0 |
1
|
0 |
1
|
AFF2
|
0 |
0 |
1
|
0 |
1
|
AGA
|
0 |
0 |
1
|
0 |
1
|
AGO2
|
0 |
1
|
0 |
0 |
1
|
AP1G1
|
0 |
1
|
0 |
0 |
1
|
AP2M1
|
0 |
0 |
1
|
0 |
1
|
AP2S1
|
0 |
1
|
0 |
0 |
1
|
ARHGEF9
|
0 |
0 |
1
|
0 |
1
|
ARID1A
|
0 |
0 |
1
|
0 |
1
|
ASNS, CZ1P-ASNS
|
0 |
1
|
0 |
0 |
1
|
ASXL2
|
0 |
0 |
1
|
0 |
1
|
ATP2B3
|
0 |
0 |
1
|
0 |
1
|
ATP6V1B2
|
0 |
0 |
1
|
0 |
1
|
ATXN7L3, LOC121587595, UBTF
|
0 |
0 |
1
|
0 |
1
|
AUTS2
|
1
|
0 |
0 |
0 |
1
|
AVPR2
|
1
|
0 |
0 |
0 |
1
|
BCL11B
|
1
|
0 |
0 |
0 |
1
|
BCOR
|
0 |
1
|
0 |
0 |
1
|
BCORL1
|
0 |
0 |
1
|
0 |
1
|
BRAF
|
1
|
0 |
0 |
0 |
1
|
BRD4
|
0 |
0 |
1
|
0 |
1
|
BRWD3
|
0 |
1
|
0 |
0 |
1
|
CACNA1A, LOC130063717
|
0 |
0 |
1
|
0 |
1
|
CACNA1F
|
1
|
0 |
0 |
0 |
1
|
CACNG2
|
0 |
0 |
1
|
0 |
1
|
CAMK2G
|
0 |
0 |
1
|
0 |
1
|
CASR
|
0 |
1
|
0 |
0 |
1
|
CBL
|
1
|
0 |
0 |
0 |
1
|
CCDC22
|
0 |
0 |
1
|
0 |
1
|
CDC42
|
1
|
0 |
0 |
0 |
1
|
CDK10
|
1
|
0 |
0 |
0 |
1
|
CDK19
|
0 |
0 |
1
|
0 |
1
|
CDKL5
|
1
|
0 |
0 |
0 |
1
|
CDKL5, RS1
|
0 |
0 |
1
|
0 |
1
|
CEP85L
|
1
|
0 |
0 |
0 |
1
|
CHAMP1
|
0 |
1
|
0 |
0 |
1
|
CHD1
|
0 |
0 |
1
|
0 |
1
|
CHD3
|
0 |
0 |
1
|
0 |
1
|
CHD5
|
0 |
1
|
0 |
0 |
1
|
CHRNA7
|
0 |
0 |
1
|
0 |
1
|
CIC, LOC130064572
|
1
|
0 |
0 |
0 |
1
|
CLTC
|
0 |
1
|
0 |
0 |
1
|
CNKSR2
|
0 |
1
|
0 |
0 |
1
|
CNOT1
|
0 |
0 |
1
|
0 |
1
|
CNOT2
|
0 |
1
|
0 |
0 |
1
|
CNOT3
|
1
|
0 |
0 |
0 |
1
|
CNTNAP1
|
1
|
0 |
0 |
0 |
1
|
COL11A1
|
0 |
1
|
0 |
0 |
1
|
COL12A1
|
0 |
1
|
0 |
0 |
1
|
CTNNB1
|
1
|
0 |
0 |
0 |
1
|
CTNND2
|
0 |
0 |
1
|
0 |
1
|
CUL4B
|
0 |
1
|
0 |
0 |
1
|
DIS3L2
|
0 |
0 |
1
|
0 |
1
|
DLG3
|
0 |
0 |
1
|
0 |
1
|
DLG4, LOC126862479
|
0 |
1
|
0 |
0 |
1
|
DNM1
|
1
|
0 |
0 |
0 |
1
|
DNM2
|
1
|
0 |
0 |
0 |
1
|
DSCAM
|
0 |
0 |
1
|
0 |
1
|
EEF1A2
|
0 |
0 |
1
|
0 |
1
|
EIF3F
|
1
|
0 |
0 |
0 |
1
|
EIF5A
|
0 |
1
|
0 |
0 |
1
|
ERF
|
0 |
1
|
0 |
0 |
1
|
EZH2
|
0 |
1
|
0 |
0 |
1
|
FGD1
|
0 |
1
|
0 |
0 |
1
|
FGF12
|
1
|
0 |
0 |
0 |
1
|
FGF13
|
0 |
0 |
1
|
0 |
1
|
FKBP14
|
1
|
0 |
0 |
0 |
1
|
FLNA
|
1
|
0 |
0 |
0 |
1
|
FOSL2
|
0 |
1
|
0 |
0 |
1
|
FOXP3
|
1
|
0 |
0 |
0 |
1
|
FRMPD4
|
0 |
0 |
1
|
0 |
1
|
FTSJ1
|
0 |
0 |
1
|
0 |
1
|
FUCA1
|
0 |
0 |
1
|
0 |
1
|
GABBR2
|
0 |
0 |
1
|
0 |
1
|
GAMT
|
1
|
0 |
0 |
0 |
1
|
GATA3
|
0 |
0 |
1
|
0 |
1
|
GATAD2B
|
1
|
0 |
0 |
0 |
1
|
GDI1
|
0 |
0 |
0 |
1
|
1
|
GFER
|
0 |
1
|
0 |
0 |
1
|
GNAI1
|
0 |
0 |
1
|
0 |
1
|
GPT2
|
0 |
1
|
0 |
0 |
1
|
GRIA1
|
0 |
0 |
1
|
0 |
1
|
GRIA2
|
0 |
0 |
1
|
0 |
1
|
GRIA3
|
0 |
1
|
0 |
0 |
1
|
GRIN1
|
1
|
0 |
0 |
0 |
1
|
GRIPAP1
|
0 |
0 |
1
|
0 |
1
|
HCCS
|
0 |
0 |
1
|
0 |
1
|
HDAC8
|
0 |
1
|
0 |
0 |
1
|
HK1
|
0 |
0 |
1
|
0 |
1
|
HNRNPU
|
0 |
1
|
0 |
0 |
1
|
IFT172
|
0 |
0 |
1
|
0 |
1
|
IGF1R, IRAIN
|
0 |
1
|
0 |
0 |
1
|
IRAK1BP1, PHIP
|
0 |
0 |
1
|
0 |
1
|
JAG1
|
1
|
0 |
0 |
0 |
1
|
JMJD1C
|
0 |
0 |
1
|
0 |
1
|
KAT5, RNASEH2C
|
0 |
0 |
1
|
0 |
1
|
KCNB1
|
1
|
0 |
0 |
0 |
1
|
KCNC1
|
1
|
0 |
0 |
0 |
1
|
KCNC3
|
1
|
0 |
0 |
0 |
1
|
KCNK9
|
0 |
0 |
1
|
0 |
1
|
KCNMA1
|
0 |
0 |
1
|
0 |
1
|
KCNQ3
|
0 |
0 |
0 |
1
|
1
|
KCNT1
|
0 |
0 |
1
|
0 |
1
|
KDM4B
|
0 |
1
|
0 |
0 |
1
|
KIF11
|
0 |
1
|
0 |
0 |
1
|
KIRREL3
|
0 |
0 |
1
|
0 |
1
|
KLHL20
|
0 |
1
|
0 |
0 |
1
|
KMT2A, TTC36
|
0 |
1
|
0 |
0 |
1
|
LAS1L
|
0 |
0 |
1
|
0 |
1
|
LMAN2L
|
0 |
0 |
1
|
0 |
1
|
LMNB2
|
0 |
0 |
1
|
0 |
1
|
LMNB2, LOC130063065
|
0 |
0 |
1
|
0 |
1
|
LMX1B
|
0 |
1
|
0 |
0 |
1
|
LOC102724058, SCN1A
|
0 |
1
|
0 |
0 |
1
|
LOC114803470, SCN8A
|
0 |
0 |
1
|
0 |
1
|
LOC126806490, UNC80
|
0 |
1
|
0 |
0 |
1
|
LOC126862481, POLR2A
|
0 |
0 |
1
|
0 |
1
|
LOC126862611, TLK2
|
1
|
0 |
0 |
0 |
1
|
LOC126862757, TCF4
|
1
|
0 |
0 |
0 |
1
|
LOC126862785, RTTN
|
1
|
0 |
0 |
0 |
1
|
LOC129937769, MED12L, P2RY12
|
0 |
0 |
1
|
0 |
1
|
LOC129995144, THG1L
|
0 |
1
|
0 |
0 |
1
|
LOC130009585, UFM1
|
1
|
0 |
0 |
0 |
1
|
LOC130060218, VAMP2
|
0 |
0 |
1
|
0 |
1
|
LOC130068746, SLC9A6
|
0 |
0 |
1
|
0 |
1
|
LONP2, SIAH1
|
0 |
1
|
0 |
0 |
1
|
MAGT1
|
1
|
0 |
0 |
0 |
1
|
MAOA
|
0 |
0 |
1
|
0 |
1
|
MAPK8IP3
|
0 |
0 |
1
|
0 |
1
|
MED14
|
0 |
0 |
1
|
0 |
1
|
MED23
|
0 |
1
|
0 |
0 |
1
|
MEIS2
|
1
|
0 |
0 |
0 |
1
|
MIR6857, SMC1A
|
1
|
0 |
0 |
0 |
1
|
MORC2
|
1
|
0 |
0 |
0 |
1
|
MRPS22
|
0 |
1
|
0 |
0 |
1
|
MTM1
|
1
|
0 |
0 |
0 |
1
|
MTOR
|
0 |
0 |
1
|
0 |
1
|
MYRF
|
0 |
1
|
0 |
0 |
1
|
NACC1
|
0 |
0 |
1
|
0 |
1
|
NALCN
|
1
|
0 |
0 |
0 |
1
|
NARS2
|
0 |
1
|
0 |
0 |
1
|
NDUFB11
|
0 |
1
|
0 |
0 |
1
|
NF1
|
1
|
0 |
0 |
0 |
1
|
NFIX
|
0 |
1
|
0 |
0 |
1
|
NONO
|
0 |
0 |
1
|
0 |
1
|
NR2F2
|
0 |
0 |
1
|
0 |
1
|
NT5C2
|
1
|
0 |
0 |
0 |
1
|
NTRK1
|
0 |
1
|
0 |
0 |
1
|
NTRK2
|
1
|
0 |
0 |
0 |
1
|
OPA1
|
1
|
0 |
0 |
0 |
1
|
OTC
|
0 |
1
|
0 |
0 |
1
|
OTUD6B
|
1
|
0 |
0 |
0 |
1
|
PACS2
|
1
|
0 |
0 |
0 |
1
|
PAK1
|
0 |
0 |
1
|
0 |
1
|
PBX1
|
0 |
1
|
0 |
0 |
1
|
PCBP1
|
0 |
0 |
1
|
0 |
1
|
PGAP2
|
0 |
1
|
0 |
0 |
1
|
PHF2
|
0 |
0 |
1
|
0 |
1
|
PHF3
|
0 |
0 |
1
|
0 |
1
|
PHF6
|
0 |
0 |
1
|
0 |
1
|
PIK3R2
|
1
|
0 |
0 |
0 |
1
|
PKD1
|
1
|
0 |
0 |
0 |
1
|
POLR2A
|
0 |
0 |
1
|
0 |
1
|
PORCN
|
0 |
1
|
0 |
0 |
1
|
PPP2R5D
|
1
|
0 |
0 |
0 |
1
|
PRKACA
|
0 |
0 |
1
|
0 |
1
|
PTEN
|
1
|
0 |
0 |
0 |
1
|
PTPN23
|
0 |
0 |
1
|
0 |
1
|
PUF60
|
1
|
0 |
0 |
0 |
1
|
PUM1
|
0 |
0 |
1
|
0 |
1
|
PURA
|
0 |
0 |
1
|
0 |
1
|
PYCR2
|
1
|
0 |
0 |
0 |
1
|
RAB39B
|
0 |
1
|
0 |
0 |
1
|
RAD21
|
1
|
0 |
0 |
0 |
1
|
RASA2
|
0 |
0 |
1
|
0 |
1
|
RLIM
|
0 |
1
|
0 |
0 |
1
|
RNASEH2B
|
1
|
0 |
0 |
0 |
1
|
RNF170
|
1
|
0 |
0 |
0 |
1
|
RPE65
|
1
|
0 |
0 |
0 |
1
|
RTTN
|
0 |
1
|
0 |
0 |
1
|
RYR1
|
1
|
0 |
0 |
0 |
1
|
SCAF4
|
0 |
0 |
1
|
0 |
1
|
SERPINA1
|
1
|
0 |
0 |
0 |
1
|
SET
|
0 |
1
|
0 |
0 |
1
|
SETD1A
|
0 |
0 |
1
|
0 |
1
|
SF1
|
0 |
1
|
0 |
0 |
1
|
SHOC2
|
1
|
0 |
0 |
0 |
1
|
SIN3A
|
0 |
1
|
0 |
0 |
1
|
SKI
|
0 |
0 |
1
|
0 |
1
|
SLC16A2
|
0 |
1
|
0 |
0 |
1
|
SLC6A5
|
0 |
1
|
0 |
0 |
1
|
SMAD4
|
1
|
0 |
0 |
0 |
1
|
SMARCA2
|
1
|
0 |
0 |
0 |
1
|
SMARCD1
|
0 |
0 |
1
|
0 |
1
|
SMC1A
|
1
|
0 |
0 |
0 |
1
|
SMC3
|
0 |
0 |
1
|
0 |
1
|
SNHG14, UBE3A
|
1
|
0 |
0 |
0 |
1
|
SON
|
1
|
0 |
0 |
0 |
1
|
SOX4
|
0 |
0 |
1
|
0 |
1
|
SOX5
|
0 |
1
|
0 |
0 |
1
|
SPAST
|
0 |
0 |
1
|
0 |
1
|
SRPK3
|
0 |
0 |
1
|
0 |
1
|
SSBP3
|
0 |
0 |
1
|
0 |
1
|
SUFU
|
0 |
1
|
0 |
0 |
1
|
SUPT16H
|
0 |
0 |
1
|
0 |
1
|
SUZ12
|
1
|
0 |
0 |
0 |
1
|
TAF1
|
0 |
0 |
1
|
0 |
1
|
TAOK3
|
0 |
0 |
1
|
0 |
1
|
TCF20
|
1
|
0 |
0 |
0 |
1
|
TCF4
|
1
|
0 |
0 |
0 |
1
|
TET3
|
0 |
0 |
1
|
0 |
1
|
TFE3
|
1
|
0 |
0 |
0 |
1
|
THG1L
|
1
|
0 |
0 |
0 |
1
|
THOC2
|
0 |
0 |
1
|
0 |
1
|
THRB
|
0 |
1
|
0 |
0 |
1
|
TMEM240
|
1
|
0 |
0 |
0 |
1
|
TMEM70
|
1
|
0 |
0 |
0 |
1
|
TNPO2
|
0 |
1
|
0 |
0 |
1
|
TOP2B
|
0 |
0 |
1
|
0 |
1
|
TPO
|
1
|
0 |
0 |
0 |
1
|
TPP1
|
0 |
1
|
0 |
0 |
1
|
TSC2
|
1
|
0 |
0 |
0 |
1
|
TUBA1A
|
1
|
0 |
0 |
0 |
1
|
TUBB2B
|
0 |
1
|
0 |
0 |
1
|
TUBB3
|
0 |
0 |
1
|
0 |
1
|
TUBB4A
|
1
|
0 |
0 |
0 |
1
|
UBR4
|
0 |
0 |
1
|
0 |
1
|
USH2A
|
1
|
0 |
0 |
0 |
1
|
USP27X
|
0 |
1
|
0 |
0 |
1
|
USP7
|
1
|
0 |
0 |
0 |
1
|
VIM
|
0 |
1
|
0 |
0 |
1
|
WDR45
|
1
|
0 |
0 |
0 |
1
|
YWHAG
|
1
|
0 |
0 |
0 |
1
|
ZC4H2
|
0 |
1
|
0 |
0 |
1
|
ZDHHC9
|
0 |
0 |
1
|
0 |
1
|
ZMIZ1
|
0 |
0 |
1
|
0 |
1
|
ZMYND11
|
0 |
0 |
1
|
0 |
1
|
ZNF462
|
1
|
0 |
0 |
0 |
1
|
ZNF536
|
0 |
0 |
1
|
0 |
1
|
ZSWIM6
|
0 |
0 |
1
|
0 |
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. 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.