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 |
168
|
192
|
1188
|
11
|
1
|
1560
|
Gene and significance breakdown #
Total genes and gene combinations: 517
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
PKD1
|
44
|
23
|
14
|
1
|
0 |
82
|
COL4A5
|
15
|
18
|
8
|
0 |
0 |
41
|
COL4A3, MFF-DT
|
3
|
28
|
4
|
0 |
0 |
35
|
COL4A4
|
10
|
16
|
1
|
0 |
0 |
27
|
CACNA1S
|
0 |
0 |
21
|
0 |
0 |
21
|
PKD2
|
10
|
2
|
3
|
0 |
0 |
15
|
PKHD1
|
2
|
2
|
8
|
0 |
0 |
12
|
SI
|
0 |
0 |
12
|
0 |
0 |
12
|
SLC12A3
|
3
|
8
|
1
|
0 |
0 |
12
|
TRPC6
|
2
|
5
|
4
|
1
|
0 |
12
|
ARID1B
|
0 |
0 |
10
|
0 |
0 |
10
|
CAD
|
0 |
0 |
10
|
0 |
0 |
10
|
INF2
|
1
|
5
|
4
|
0 |
0 |
10
|
NF1
|
1
|
1
|
8
|
0 |
0 |
10
|
NPHP3, NPHP3-ACAD11
|
1
|
3
|
6
|
0 |
0 |
10
|
NPHP4
|
1
|
4
|
5
|
0 |
0 |
10
|
TSC2
|
0 |
1
|
9
|
0 |
0 |
10
|
LRP2
|
0 |
0 |
9
|
0 |
0 |
9
|
SETBP1
|
0 |
0 |
9
|
0 |
0 |
9
|
TMEM67
|
0 |
0 |
9
|
0 |
0 |
9
|
BRCA2
|
8
|
0 |
0 |
0 |
0 |
8
|
GLA, RPL36A-HNRNPH2
|
2
|
1
|
4
|
1
|
0 |
8
|
LRIG2
|
0 |
2
|
6
|
0 |
0 |
8
|
NPHS1
|
1
|
2
|
5
|
0 |
0 |
8
|
TTC21B
|
2
|
0 |
6
|
0 |
0 |
8
|
UMOD
|
0 |
7
|
1
|
0 |
0 |
8
|
WFS1
|
0 |
2
|
6
|
0 |
0 |
8
|
ACE
|
0 |
0 |
7
|
0 |
0 |
7
|
APC2
|
0 |
0 |
7
|
0 |
0 |
7
|
CHD7
|
0 |
0 |
7
|
0 |
0 |
7
|
COL4A1
|
0 |
0 |
7
|
0 |
0 |
7
|
CUBN
|
0 |
0 |
7
|
0 |
0 |
7
|
DYNC2H1
|
0 |
0 |
7
|
0 |
0 |
7
|
FLNA
|
0 |
0 |
7
|
0 |
0 |
7
|
HNF1A
|
4
|
2
|
1
|
0 |
0 |
7
|
HSPG2
|
0 |
0 |
7
|
0 |
0 |
7
|
KMT2D
|
0 |
0 |
7
|
0 |
0 |
7
|
MYH9
|
0 |
1
|
6
|
0 |
0 |
7
|
NOTCH3
|
0 |
0 |
7
|
0 |
0 |
7
|
RERE
|
0 |
1
|
6
|
0 |
0 |
7
|
SCN4A
|
0 |
0 |
7
|
0 |
0 |
7
|
ATP7B
|
0 |
0 |
6
|
0 |
0 |
6
|
CEP290
|
0 |
0 |
6
|
0 |
0 |
6
|
CFH
|
0 |
0 |
6
|
0 |
0 |
6
|
CFHR5
|
0 |
0 |
6
|
0 |
0 |
6
|
COL18A1
|
0 |
0 |
6
|
0 |
0 |
6
|
CPLANE1
|
0 |
0 |
6
|
0 |
0 |
6
|
CRB2
|
1
|
0 |
5
|
0 |
0 |
6
|
CREBBP
|
0 |
2
|
4
|
0 |
0 |
6
|
DHCR7
|
2
|
4
|
0 |
0 |
0 |
6
|
EYA1
|
3
|
2
|
1
|
0 |
0 |
6
|
FANCM
|
0 |
0 |
6
|
0 |
0 |
6
|
FLNB
|
0 |
0 |
6
|
0 |
0 |
6
|
GH-LCR, SCN4A
|
0 |
0 |
6
|
0 |
0 |
6
|
MMUT
|
0 |
0 |
6
|
0 |
0 |
6
|
PNPLA6
|
0 |
0 |
6
|
0 |
0 |
6
|
PYGM
|
0 |
0 |
6
|
0 |
0 |
6
|
RPGRIP1L
|
0 |
0 |
6
|
0 |
0 |
6
|
SALL1
|
0 |
1
|
5
|
0 |
0 |
6
|
SLC3A1
|
0 |
3
|
3
|
0 |
0 |
6
|
SLC5A2
|
0 |
0 |
6
|
0 |
0 |
6
|
SLC7A9
|
0 |
3
|
3
|
0 |
0 |
6
|
STK11
|
0 |
0 |
6
|
0 |
0 |
6
|
WDR19
|
1
|
1
|
4
|
0 |
0 |
6
|
ALMS1
|
0 |
0 |
5
|
0 |
0 |
5
|
ALPL
|
0 |
0 |
5
|
0 |
0 |
5
|
CENPF
|
0 |
0 |
5
|
0 |
0 |
5
|
ETFDH
|
0 |
0 |
5
|
0 |
0 |
5
|
FREM2
|
0 |
0 |
5
|
0 |
0 |
5
|
GATA6
|
0 |
0 |
5
|
0 |
0 |
5
|
HOXA13, LOC107126288
|
0 |
0 |
5
|
0 |
0 |
5
|
INPP5E
|
0 |
0 |
5
|
0 |
0 |
5
|
KIF7
|
0 |
0 |
5
|
0 |
0 |
5
|
MKKS
|
0 |
2
|
2
|
1
|
0 |
5
|
PAX2
|
0 |
5
|
0 |
0 |
0 |
5
|
PLCE1
|
0 |
1
|
4
|
0 |
0 |
5
|
SLC26A4
|
0 |
0 |
5
|
0 |
0 |
5
|
ARID1A
|
0 |
0 |
4
|
0 |
0 |
4
|
ARMC5
|
0 |
0 |
4
|
0 |
0 |
4
|
ATP6V1B1
|
2
|
0 |
2
|
0 |
0 |
4
|
AXDND1, NPHS2
|
3
|
0 |
1
|
0 |
0 |
4
|
CC2D2A
|
0 |
0 |
4
|
0 |
0 |
4
|
CPT2
|
0 |
0 |
4
|
0 |
0 |
4
|
EVC2
|
0 |
0 |
4
|
0 |
0 |
4
|
FOXC1
|
0 |
0 |
4
|
0 |
0 |
4
|
FUZ
|
0 |
0 |
4
|
0 |
0 |
4
|
HNF1B
|
0 |
1
|
2
|
1
|
0 |
4
|
HOXD13
|
0 |
0 |
4
|
0 |
0 |
4
|
HSD17B4
|
0 |
0 |
4
|
0 |
0 |
4
|
ITGB4
|
0 |
0 |
4
|
0 |
0 |
4
|
KANK1
|
0 |
0 |
4
|
0 |
0 |
4
|
KIF14
|
0 |
0 |
4
|
0 |
0 |
4
|
NOTCH2
|
0 |
0 |
4
|
0 |
0 |
4
|
PC
|
0 |
0 |
4
|
0 |
0 |
4
|
PIGN
|
0 |
0 |
4
|
0 |
0 |
4
|
RIN2
|
0 |
0 |
4
|
0 |
0 |
4
|
ROBO2
|
0 |
1
|
3
|
0 |
0 |
4
|
SCARB2
|
0 |
0 |
4
|
0 |
0 |
4
|
SDHB
|
0 |
0 |
4
|
0 |
0 |
4
|
SLC1A1
|
0 |
0 |
4
|
0 |
0 |
4
|
SLC4A1
|
1
|
0 |
3
|
0 |
0 |
4
|
SLC6A19
|
0 |
0 |
4
|
0 |
0 |
4
|
SLIT2
|
0 |
0 |
4
|
0 |
0 |
4
|
SLX4
|
0 |
0 |
4
|
0 |
0 |
4
|
STRA6
|
0 |
0 |
4
|
0 |
0 |
4
|
TCTN3
|
0 |
0 |
4
|
0 |
0 |
4
|
TRAP1
|
0 |
0 |
4
|
0 |
0 |
4
|
UMPS
|
0 |
0 |
2
|
2
|
0 |
4
|
UPB1
|
0 |
0 |
4
|
0 |
0 |
4
|
VANGL1
|
0 |
0 |
4
|
0 |
0 |
4
|
VPS33B
|
0 |
0 |
4
|
0 |
0 |
4
|
WNK1
|
0 |
0 |
4
|
0 |
0 |
4
|
ABCD4
|
0 |
0 |
3
|
0 |
0 |
3
|
ADA2
|
0 |
0 |
3
|
0 |
0 |
3
|
ADAMTS13
|
0 |
0 |
3
|
0 |
0 |
3
|
AGPAT2
|
0 |
0 |
3
|
0 |
0 |
3
|
AHI1
|
0 |
0 |
3
|
0 |
0 |
3
|
ALG8
|
0 |
0 |
3
|
0 |
0 |
3
|
ANKS6
|
0 |
0 |
3
|
0 |
0 |
3
|
ANOS1
|
0 |
1
|
1
|
1
|
0 |
3
|
ARFGEF1, CSPP1
|
0 |
0 |
3
|
0 |
0 |
3
|
ARID1B, LOC115308161
|
0 |
0 |
3
|
0 |
0 |
3
|
ASXL1
|
0 |
0 |
3
|
0 |
0 |
3
|
ATP6V0A4
|
0 |
0 |
3
|
0 |
0 |
3
|
BBS1, ZDHHC24
|
0 |
0 |
3
|
0 |
0 |
3
|
BCOR
|
0 |
0 |
3
|
0 |
0 |
3
|
BMP4
|
0 |
0 |
3
|
0 |
0 |
3
|
CASP10
|
0 |
0 |
3
|
0 |
0 |
3
|
CASR
|
0 |
2
|
1
|
0 |
0 |
3
|
CDKN1B
|
0 |
0 |
3
|
0 |
0 |
3
|
CDKN1C
|
0 |
1
|
2
|
0 |
0 |
3
|
CEP164
|
0 |
0 |
3
|
0 |
0 |
3
|
CEP41
|
0 |
0 |
3
|
0 |
0 |
3
|
CLCN5
|
2
|
0 |
1
|
0 |
0 |
3
|
CLCN5, LOC126863258
|
1
|
1
|
1
|
0 |
0 |
3
|
CLCNKA, LOC106501712
|
0 |
0 |
3
|
0 |
0 |
3
|
CLCNKB, LOC106501713
|
0 |
0 |
3
|
0 |
0 |
3
|
COL5A1, LOC101448202
|
0 |
0 |
3
|
0 |
0 |
3
|
CPT1A
|
0 |
0 |
3
|
0 |
0 |
3
|
CTNS
|
0 |
0 |
3
|
0 |
0 |
3
|
DCHS1
|
0 |
0 |
3
|
0 |
0 |
3
|
DIS3L2
|
0 |
0 |
3
|
0 |
0 |
3
|
DLL3
|
0 |
0 |
3
|
0 |
0 |
3
|
DYNC2I1
|
0 |
0 |
3
|
0 |
0 |
3
|
EHHADH
|
0 |
0 |
3
|
0 |
0 |
3
|
ERCC4
|
0 |
0 |
3
|
0 |
0 |
3
|
ERCC6
|
0 |
0 |
3
|
0 |
0 |
3
|
ETFB
|
0 |
0 |
3
|
0 |
0 |
3
|
EVC
|
0 |
0 |
3
|
0 |
0 |
3
|
FAM20C
|
0 |
0 |
3
|
0 |
0 |
3
|
FANCA
|
0 |
0 |
3
|
0 |
0 |
3
|
FANCI
|
0 |
0 |
3
|
0 |
0 |
3
|
FGA
|
0 |
0 |
3
|
0 |
0 |
3
|
FGFR2
|
0 |
1
|
2
|
0 |
0 |
3
|
FRAS1
|
0 |
0 |
3
|
0 |
0 |
3
|
FREM1
|
0 |
0 |
3
|
0 |
0 |
3
|
GATA3
|
0 |
0 |
3
|
0 |
0 |
3
|
GCDH
|
0 |
0 |
3
|
0 |
0 |
3
|
GRHPR
|
0 |
0 |
3
|
0 |
0 |
3
|
GRIP1
|
0 |
0 |
3
|
0 |
0 |
3
|
INPPL1
|
0 |
0 |
3
|
0 |
0 |
3
|
INSR
|
0 |
0 |
3
|
0 |
0 |
3
|
INVS
|
0 |
0 |
3
|
0 |
0 |
3
|
ITGA6
|
0 |
0 |
3
|
0 |
0 |
3
|
JAG1
|
1
|
0 |
2
|
0 |
0 |
3
|
KCNJ1
|
0 |
0 |
3
|
0 |
0 |
3
|
KCNQ1
|
3
|
0 |
0 |
0 |
0 |
3
|
LAMB3
|
0 |
0 |
3
|
0 |
0 |
3
|
LFNG
|
0 |
0 |
3
|
0 |
0 |
3
|
LONP1
|
0 |
0 |
3
|
0 |
0 |
3
|
LRP4
|
0 |
0 |
3
|
0 |
0 |
3
|
MYBPC3
|
3
|
0 |
0 |
0 |
0 |
3
|
NLRP3
|
0 |
0 |
3
|
0 |
0 |
3
|
NPHS2
|
3
|
0 |
0 |
0 |
0 |
3
|
NR0B1
|
0 |
0 |
3
|
0 |
0 |
3
|
NUP107
|
0 |
0 |
3
|
0 |
0 |
3
|
OCLN
|
0 |
0 |
3
|
0 |
0 |
3
|
PALB2
|
0 |
0 |
3
|
0 |
0 |
3
|
PEX6
|
0 |
0 |
3
|
0 |
0 |
3
|
PGK1
|
0 |
0 |
3
|
0 |
0 |
3
|
PHGDH
|
0 |
0 |
3
|
0 |
0 |
3
|
PKP2
|
3
|
0 |
0 |
0 |
0 |
3
|
PTEN
|
0 |
0 |
3
|
0 |
0 |
3
|
RAI1
|
0 |
0 |
3
|
0 |
0 |
3
|
RPS24
|
0 |
0 |
3
|
0 |
0 |
3
|
RTTN
|
0 |
0 |
3
|
0 |
0 |
3
|
SCNN1A
|
0 |
0 |
3
|
0 |
0 |
3
|
SCO1
|
0 |
0 |
3
|
0 |
0 |
3
|
SERPINH1
|
0 |
0 |
3
|
0 |
0 |
3
|
SKIC3
|
0 |
0 |
3
|
0 |
0 |
3
|
SLC16A12
|
0 |
1
|
2
|
0 |
0 |
3
|
SLC34A3
|
0 |
1
|
2
|
0 |
0 |
3
|
SLC4A4
|
0 |
0 |
3
|
0 |
0 |
3
|
SMARCAL1
|
1
|
1
|
1
|
0 |
0 |
3
|
SOX17
|
0 |
0 |
3
|
0 |
0 |
3
|
SPECC1L, SPECC1L-ADORA2A
|
0 |
0 |
3
|
0 |
0 |
3
|
TRAF3IP1
|
0 |
0 |
3
|
0 |
0 |
3
|
TRPM6
|
0 |
0 |
3
|
0 |
0 |
3
|
UPK3A
|
0 |
0 |
3
|
0 |
0 |
3
|
WDPCP
|
0 |
0 |
3
|
0 |
0 |
3
|
WDR35
|
0 |
0 |
3
|
0 |
0 |
3
|
ABCC6
|
0 |
0 |
2
|
0 |
0 |
2
|
ACTA2
|
0 |
0 |
2
|
0 |
0 |
2
|
ACTG2
|
1
|
0 |
1
|
0 |
0 |
2
|
ACTN4
|
0 |
0 |
2
|
0 |
0 |
2
|
AFF4
|
0 |
0 |
2
|
0 |
0 |
2
|
AGT
|
0 |
0 |
2
|
0 |
0 |
2
|
AMN
|
0 |
0 |
2
|
0 |
0 |
2
|
ANLN
|
0 |
0 |
2
|
0 |
0 |
2
|
APOA1
|
1
|
0 |
1
|
0 |
0 |
2
|
ARX
|
0 |
0 |
2
|
0 |
0 |
2
|
ARX, LOC109610631
|
0 |
0 |
2
|
0 |
0 |
2
|
AVP
|
1
|
0 |
1
|
0 |
0 |
2
|
BBS2
|
0 |
0 |
2
|
0 |
0 |
2
|
BBS5
|
0 |
0 |
2
|
0 |
0 |
2
|
BUB1B
|
0 |
0 |
2
|
0 |
0 |
2
|
C2
|
0 |
0 |
2
|
0 |
0 |
2
|
C3
|
0 |
0 |
2
|
0 |
0 |
2
|
CACNA1S, LOC101929305
|
0 |
0 |
2
|
0 |
0 |
2
|
CAD, LOC126806171
|
0 |
0 |
2
|
0 |
0 |
2
|
COL5A1
|
0 |
0 |
2
|
0 |
0 |
2
|
COQ2, LOC112997540
|
0 |
0 |
2
|
0 |
0 |
2
|
CSPP1
|
0 |
0 |
2
|
0 |
0 |
2
|
CYP24A1
|
0 |
0 |
2
|
0 |
0 |
2
|
DLL4
|
0 |
0 |
2
|
0 |
0 |
2
|
DLX4
|
0 |
0 |
2
|
0 |
0 |
2
|
DM1, LOC107075317, SIX5
|
0 |
0 |
2
|
0 |
0 |
2
|
DSTYK
|
0 |
0 |
2
|
0 |
0 |
2
|
EGF
|
0 |
0 |
2
|
0 |
0 |
2
|
EIF2B4, GTF3C2
|
0 |
0 |
2
|
0 |
0 |
2
|
EMP2
|
0 |
0 |
2
|
0 |
0 |
2
|
EPG5
|
0 |
0 |
2
|
0 |
0 |
2
|
FANCB
|
1
|
0 |
1
|
0 |
0 |
2
|
FANCE
|
0 |
0 |
2
|
0 |
0 |
2
|
FANCL
|
0 |
0 |
2
|
0 |
0 |
2
|
FAT4
|
0 |
0 |
2
|
0 |
0 |
2
|
FGFR1
|
0 |
0 |
2
|
0 |
0 |
2
|
FGFR3
|
0 |
0 |
2
|
0 |
0 |
2
|
FOXC2
|
0 |
0 |
2
|
0 |
0 |
2
|
G6PC1
|
0 |
0 |
2
|
0 |
0 |
2
|
GALK1, ITGB4
|
0 |
0 |
2
|
0 |
0 |
2
|
GATAD1, PEX1
|
0 |
0 |
2
|
0 |
0 |
2
|
GDF2
|
0 |
0 |
2
|
0 |
0 |
2
|
GLB1
|
0 |
0 |
2
|
0 |
0 |
2
|
GLI3
|
0 |
0 |
1
|
1
|
0 |
2
|
GNA11
|
0 |
0 |
2
|
0 |
0 |
2
|
GNAS
|
0 |
1
|
1
|
0 |
0 |
2
|
GNAS, LOC130066268
|
0 |
0 |
2
|
0 |
0 |
2
|
GSN
|
0 |
0 |
2
|
0 |
0 |
2
|
HGD
|
0 |
0 |
2
|
0 |
0 |
2
|
HNF4A
|
0 |
1
|
1
|
0 |
0 |
2
|
HOGA1
|
0 |
0 |
2
|
0 |
0 |
2
|
HSD17B3, SLC35D2-HSD17B3
|
0 |
0 |
2
|
0 |
0 |
2
|
IDUA, SLC26A1
|
1
|
1
|
0 |
0 |
0 |
2
|
IFT122
|
0 |
0 |
2
|
0 |
0 |
2
|
IFT140
|
0 |
0 |
2
|
0 |
0 |
2
|
IFT140, LOC105371046
|
0 |
0 |
2
|
0 |
0 |
2
|
IFT172
|
0 |
0 |
2
|
0 |
0 |
2
|
IQCB1
|
2
|
0 |
0 |
0 |
0 |
2
|
ITGA8
|
0 |
0 |
2
|
0 |
0 |
2
|
KANK4
|
0 |
0 |
2
|
0 |
0 |
2
|
KAT6B
|
0 |
0 |
2
|
0 |
0 |
2
|
KDM1A
|
0 |
0 |
2
|
0 |
0 |
2
|
KRAS
|
1
|
0 |
1
|
0 |
0 |
2
|
LAMC2
|
0 |
0 |
2
|
0 |
0 |
2
|
LARS1
|
0 |
0 |
2
|
0 |
0 |
2
|
LDHA
|
0 |
0 |
2
|
0 |
0 |
2
|
LMNA
|
1
|
0 |
1
|
0 |
0 |
2
|
LOC106780803, TNXB
|
0 |
0 |
2
|
0 |
0 |
2
|
LOC126862123, SLC12A1
|
0 |
0 |
2
|
0 |
0 |
2
|
LOC129992813, PKD2
|
2
|
0 |
0 |
0 |
0 |
2
|
LOC129999736, MNX1
|
0 |
0 |
2
|
0 |
0 |
2
|
LOC130063979, PIK3R2
|
0 |
0 |
2
|
0 |
0 |
2
|
LPIN1
|
0 |
0 |
2
|
0 |
0 |
2
|
MLH1
|
0 |
0 |
2
|
0 |
0 |
2
|
MSH6
|
2
|
0 |
0 |
0 |
0 |
2
|
MUC1
|
0 |
0 |
2
|
0 |
0 |
2
|
MYO1E
|
0 |
0 |
2
|
0 |
0 |
2
|
NEK1
|
0 |
0 |
2
|
0 |
0 |
2
|
NIPBL
|
0 |
0 |
2
|
0 |
0 |
2
|
NSD1
|
0 |
0 |
2
|
0 |
0 |
2
|
NUP205
|
0 |
0 |
2
|
0 |
0 |
2
|
PEX1
|
0 |
0 |
2
|
0 |
0 |
2
|
PGM3
|
0 |
0 |
2
|
0 |
0 |
2
|
PMS2
|
1
|
1
|
0 |
0 |
0 |
2
|
POMT1
|
0 |
0 |
2
|
0 |
0 |
2
|
PPP1R15B
|
0 |
0 |
2
|
0 |
0 |
2
|
PRODH
|
0 |
0 |
2
|
0 |
0 |
2
|
PTPN11
|
1
|
0 |
1
|
0 |
0 |
2
|
PUF60
|
0 |
0 |
2
|
0 |
0 |
2
|
RAB3GAP1
|
0 |
0 |
2
|
0 |
0 |
2
|
RAB3GAP2
|
0 |
0 |
2
|
0 |
0 |
2
|
REN
|
0 |
1
|
1
|
0 |
0 |
2
|
RET
|
0 |
0 |
2
|
0 |
0 |
2
|
RMND1
|
0 |
0 |
2
|
0 |
0 |
2
|
ROR2
|
0 |
0 |
2
|
0 |
0 |
2
|
SCN5A
|
1
|
1
|
0 |
0 |
0 |
2
|
SIX2
|
0 |
0 |
2
|
0 |
0 |
2
|
SLC12A1
|
0 |
0 |
2
|
0 |
0 |
2
|
SLC34A1
|
0 |
0 |
2
|
0 |
0 |
2
|
SLC7A7
|
0 |
0 |
2
|
0 |
0 |
2
|
SMAD3
|
0 |
0 |
2
|
0 |
0 |
2
|
SMARCE1
|
0 |
0 |
2
|
0 |
0 |
2
|
SRCAP
|
0 |
0 |
2
|
0 |
0 |
2
|
STRADA
|
0 |
0 |
2
|
0 |
0 |
2
|
TBC1D24
|
0 |
0 |
2
|
0 |
0 |
2
|
TBX18
|
0 |
0 |
2
|
0 |
0 |
2
|
TRAIP
|
0 |
0 |
2
|
0 |
0 |
2
|
TSC1
|
0 |
0 |
1
|
0 |
1
|
2
|
VHL
|
0 |
0 |
1
|
1
|
0 |
2
|
WNK4
|
0 |
0 |
2
|
0 |
0 |
2
|
WNT7A
|
0 |
0 |
2
|
0 |
0 |
2
|
WT1
|
0 |
1
|
1
|
0 |
0 |
2
|
XDH
|
0 |
0 |
2
|
0 |
0 |
2
|
ZAP70
|
0 |
0 |
2
|
0 |
0 |
2
|
ACTB
|
0 |
0 |
1
|
0 |
0 |
1
|
ACVRL1
|
0 |
0 |
1
|
0 |
0 |
1
|
AGTR1
|
0 |
0 |
1
|
0 |
0 |
1
|
AMN, LOC130056554
|
0 |
0 |
1
|
0 |
0 |
1
|
AOPEP, FANCC
|
0 |
0 |
1
|
0 |
0 |
1
|
AQP2
|
0 |
0 |
1
|
0 |
0 |
1
|
AQP2, AQP5
|
0 |
0 |
1
|
0 |
0 |
1
|
ASTN2, TRIM32
|
0 |
0 |
1
|
0 |
0 |
1
|
ATP7A
|
0 |
0 |
1
|
0 |
0 |
1
|
BBIP1
|
0 |
0 |
1
|
0 |
0 |
1
|
BBS1
|
0 |
0 |
1
|
0 |
0 |
1
|
BBS10
|
0 |
0 |
1
|
0 |
0 |
1
|
BBS12
|
0 |
0 |
1
|
0 |
0 |
1
|
BBS4
|
0 |
0 |
1
|
0 |
0 |
1
|
BBS9
|
0 |
0 |
1
|
0 |
0 |
1
|
BCOR, LOC126863239
|
0 |
0 |
1
|
0 |
0 |
1
|
BCS1L
|
0 |
0 |
1
|
0 |
0 |
1
|
BRAF
|
0 |
0 |
1
|
0 |
0 |
1
|
BRIP1
|
0 |
0 |
1
|
0 |
0 |
1
|
BSCL2, HNRNPUL2-BSCL2
|
0 |
0 |
1
|
0 |
0 |
1
|
BSND
|
0 |
0 |
1
|
0 |
0 |
1
|
BUB1B, BUB1B-PAK6
|
0 |
0 |
1
|
0 |
0 |
1
|
C1QA
|
0 |
0 |
1
|
0 |
0 |
1
|
C4A
|
0 |
0 |
1
|
0 |
0 |
1
|
CA2
|
0 |
0 |
1
|
0 |
0 |
1
|
CACNG2-DT, IFT27, LOC126863139
|
0 |
0 |
1
|
0 |
0 |
1
|
CD96
|
0 |
0 |
1
|
0 |
0 |
1
|
CDC5L, POLR1C
|
0 |
0 |
1
|
0 |
0 |
1
|
CDC73
|
0 |
1
|
0 |
0 |
0 |
1
|
CENPF, LOC126806006
|
0 |
0 |
1
|
0 |
0 |
1
|
CEP104
|
0 |
0 |
1
|
0 |
0 |
1
|
CEP120
|
0 |
0 |
1
|
0 |
0 |
1
|
CFI
|
0 |
0 |
1
|
0 |
0 |
1
|
CHD7, LOC126860403
|
0 |
0 |
1
|
0 |
0 |
1
|
CLCNKA
|
0 |
0 |
1
|
0 |
0 |
1
|
CLDN16
|
0 |
0 |
1
|
0 |
0 |
1
|
CLDN19
|
0 |
0 |
1
|
0 |
0 |
1
|
CNNM2
|
0 |
0 |
1
|
0 |
0 |
1
|
COA8
|
0 |
0 |
1
|
0 |
0 |
1
|
COL11A1
|
0 |
1
|
0 |
0 |
0 |
1
|
COL18A1, SLC19A1
|
0 |
0 |
1
|
0 |
0 |
1
|
COQ6
|
0 |
0 |
1
|
0 |
0 |
1
|
COQ9, LOC112469007
|
0 |
0 |
1
|
0 |
0 |
1
|
COX20, HNRNPU
|
0 |
0 |
1
|
0 |
0 |
1
|
COX20, LOC129932912
|
0 |
0 |
1
|
0 |
0 |
1
|
CTC1
|
0 |
0 |
1
|
0 |
0 |
1
|
CUL3
|
0 |
0 |
1
|
0 |
0 |
1
|
DCDC2
|
0 |
0 |
1
|
0 |
0 |
1
|
DDX59
|
0 |
0 |
1
|
0 |
0 |
1
|
DIPK1A, RPL5
|
0 |
0 |
1
|
0 |
0 |
1
|
DLG3
|
0 |
0 |
1
|
0 |
0 |
1
|
DLL3, LOC130064417
|
0 |
0 |
1
|
0 |
0 |
1
|
DNAAF1
|
0 |
0 |
1
|
0 |
0 |
1
|
DNASE1, TRAP1
|
0 |
0 |
1
|
0 |
0 |
1
|
DNASE1L3
|
0 |
0 |
1
|
0 |
0 |
1
|
DNMT3B
|
0 |
0 |
1
|
0 |
0 |
1
|
DSP
|
1
|
0 |
0 |
0 |
0 |
1
|
DYNC2I2
|
0 |
0 |
1
|
0 |
0 |
1
|
EBP
|
0 |
0 |
1
|
0 |
0 |
1
|
EFEMP2
|
0 |
0 |
1
|
0 |
0 |
1
|
EIF2AK3
|
0 |
0 |
1
|
0 |
0 |
1
|
EIF2B4
|
0 |
0 |
1
|
0 |
0 |
1
|
ENG
|
0 |
0 |
1
|
0 |
0 |
1
|
ENPP1
|
0 |
0 |
1
|
0 |
0 |
1
|
ERBB3
|
0 |
0 |
1
|
0 |
0 |
1
|
ERCC6, LOC126860933
|
0 |
0 |
1
|
0 |
0 |
1
|
ESCO2
|
0 |
0 |
1
|
0 |
0 |
1
|
FAH
|
0 |
0 |
1
|
0 |
0 |
1
|
FAM20A, PRKAR1A
|
0 |
0 |
1
|
0 |
0 |
1
|
FAN1
|
0 |
0 |
1
|
0 |
0 |
1
|
FAN1, MTMR10
|
0 |
0 |
1
|
0 |
0 |
1
|
FANCA, ZNF276
|
0 |
0 |
1
|
0 |
0 |
1
|
FANCC
|
0 |
0 |
1
|
0 |
0 |
1
|
FANCD2, LOC107303338
|
0 |
0 |
1
|
0 |
0 |
1
|
FANCF
|
0 |
0 |
1
|
0 |
0 |
1
|
FANCF, LOC130005444
|
0 |
0 |
1
|
0 |
0 |
1
|
FBLN5
|
0 |
0 |
1
|
0 |
0 |
1
|
FGF20, LOC129999926
|
0 |
0 |
1
|
0 |
0 |
1
|
FKBP14
|
0 |
0 |
1
|
0 |
0 |
1
|
FLCN
|
1
|
0 |
0 |
0 |
0 |
1
|
FN1, FN1-DT
|
0 |
0 |
1
|
0 |
0 |
1
|
FUZ, LOC105372435
|
0 |
0 |
1
|
0 |
0 |
1
|
FUZ, LOC105372435, LOC130064942
|
0 |
0 |
1
|
0 |
0 |
1
|
GALNT3
|
0 |
0 |
1
|
0 |
0 |
1
|
GCM2
|
0 |
0 |
1
|
0 |
0 |
1
|
GLIS2
|
0 |
0 |
1
|
0 |
0 |
1
|
GPC3
|
0 |
0 |
1
|
0 |
0 |
1
|
HBB, LOC106099062, LOC107133510
|
1
|
0 |
0 |
0 |
0 |
1
|
HDAC8
|
0 |
0 |
1
|
0 |
0 |
1
|
HES7, LOC130060203
|
0 |
0 |
1
|
0 |
0 |
1
|
HNF1B, LOC126862549
|
0 |
0 |
1
|
0 |
0 |
1
|
HOXA13
|
0 |
0 |
1
|
0 |
0 |
1
|
HPS1
|
0 |
0 |
1
|
0 |
0 |
1
|
HPSE2
|
0 |
0 |
1
|
0 |
0 |
1
|
IFI30
|
0 |
0 |
1
|
0 |
0 |
1
|
IFT27
|
0 |
0 |
1
|
0 |
0 |
1
|
ITGA3
|
0 |
0 |
1
|
0 |
0 |
1
|
KANK1, LOC126860554
|
0 |
0 |
1
|
0 |
0 |
1
|
KANSL1
|
0 |
1
|
0 |
0 |
0 |
1
|
KCNA1
|
0 |
0 |
1
|
0 |
0 |
1
|
KCNH1
|
0 |
0 |
1
|
0 |
0 |
1
|
KDM6A
|
0 |
0 |
1
|
0 |
0 |
1
|
KIF7, LOC126862216
|
0 |
0 |
1
|
0 |
0 |
1
|
KIRREL2, NPHS1
|
1
|
0 |
0 |
0 |
0 |
1
|
KL
|
0 |
0 |
1
|
0 |
0 |
1
|
KLHL3
|
0 |
1
|
0 |
0 |
0 |
1
|
LAMB2
|
0 |
0 |
1
|
0 |
0 |
1
|
LDLR
|
1
|
0 |
0 |
0 |
0 |
1
|
LMX1B
|
1
|
0 |
0 |
0 |
0 |
1
|
LOC107982234, WT1
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC112272600, MYO1E
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC126859690, PKHD1
|
0 |
1
|
0 |
0 |
0 |
1
|
LOC126860075, POR
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC126861898, MYH7
|
1
|
0 |
0 |
0 |
0 |
1
|
LOC126862568, WNK4
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC126863137, MYH9
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC130066420, SOX18
|
0 |
0 |
1
|
0 |
0 |
1
|
LTBR, SCNN1A
|
0 |
0 |
1
|
0 |
0 |
1
|
MAFB
|
0 |
0 |
1
|
0 |
0 |
1
|
MAP2K1
|
0 |
0 |
1
|
0 |
0 |
1
|
MAP2K2
|
0 |
0 |
1
|
0 |
0 |
1
|
MBTPS2
|
0 |
0 |
1
|
0 |
0 |
1
|
MC4R
|
0 |
1
|
0 |
0 |
0 |
1
|
MEFV
|
0 |
0 |
1
|
0 |
0 |
1
|
MESP2
|
0 |
0 |
1
|
0 |
0 |
1
|
MIR1225, PKD1
|
0 |
1
|
0 |
0 |
0 |
1
|
MMACHC
|
0 |
0 |
1
|
0 |
0 |
1
|
MRPS22
|
0 |
0 |
1
|
0 |
0 |
1
|
MSH2
|
1
|
0 |
0 |
0 |
0 |
1
|
MVK
|
0 |
0 |
1
|
0 |
0 |
1
|
MYCN, MYCNOS
|
0 |
1
|
0 |
0 |
0 |
1
|
MYH7
|
1
|
0 |
0 |
0 |
0 |
1
|
NARS2
|
0 |
0 |
1
|
0 |
0 |
1
|
NEK8
|
0 |
0 |
1
|
0 |
0 |
1
|
NHERF1, SLC9A3R1
|
0 |
0 |
1
|
0 |
0 |
1
|
NR3C2
|
0 |
0 |
1
|
0 |
0 |
1
|
NSDHL
|
0 |
0 |
1
|
0 |
0 |
1
|
OCRL
|
0 |
1
|
0 |
0 |
0 |
1
|
OFD1
|
0 |
0 |
1
|
0 |
0 |
1
|
PAF1
|
0 |
0 |
1
|
0 |
0 |
1
|
PDSS1
|
0 |
0 |
1
|
0 |
0 |
1
|
PDSS2
|
0 |
0 |
1
|
0 |
0 |
1
|
PEX12
|
0 |
0 |
1
|
0 |
0 |
1
|
PEX13, PUS10
|
0 |
0 |
1
|
0 |
0 |
1
|
PEX14
|
0 |
0 |
1
|
0 |
0 |
1
|
PEX26
|
0 |
0 |
1
|
0 |
0 |
1
|
PEX3
|
0 |
0 |
1
|
0 |
0 |
1
|
PEX5
|
0 |
0 |
1
|
0 |
0 |
1
|
PIGT
|
0 |
0 |
1
|
0 |
0 |
1
|
PIK3CA
|
0 |
0 |
1
|
0 |
0 |
1
|
PITX2
|
0 |
0 |
1
|
0 |
0 |
1
|
PLOD1
|
0 |
0 |
1
|
0 |
0 |
1
|
POMC
|
0 |
0 |
1
|
0 |
0 |
1
|
POR
|
0 |
0 |
1
|
0 |
0 |
1
|
PREPL, SLC3A1
|
0 |
1
|
0 |
0 |
0 |
1
|
PRKCD
|
0 |
0 |
1
|
0 |
0 |
1
|
PROKR2
|
0 |
0 |
1
|
0 |
0 |
1
|
PTH1R
|
0 |
0 |
1
|
0 |
0 |
1
|
PTPRO
|
0 |
0 |
1
|
0 |
0 |
1
|
RBBP8
|
0 |
0 |
1
|
0 |
0 |
1
|
RIPK4
|
0 |
0 |
1
|
0 |
0 |
1
|
RIPPLY2, RIPPLY2-CYB5R4
|
0 |
0 |
1
|
0 |
0 |
1
|
RPS26
|
0 |
0 |
1
|
0 |
0 |
1
|
RUVBL1, SEC61A1
|
0 |
1
|
0 |
0 |
0 |
1
|
RYR1
|
1
|
0 |
0 |
0 |
0 |
1
|
SALL4
|
0 |
0 |
1
|
0 |
0 |
1
|
SARS2
|
0 |
0 |
1
|
0 |
0 |
1
|
SC5D
|
0 |
0 |
1
|
0 |
0 |
1
|
SDCCAG8
|
0 |
0 |
1
|
0 |
0 |
1
|
SDHC
|
0 |
1
|
0 |
0 |
0 |
1
|
SDHD
|
0 |
1
|
0 |
0 |
0 |
1
|
SIX1
|
0 |
0 |
0 |
1
|
0 |
1
|
SLC22A12
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC25A1
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC2A9
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC6A20
|
0 |
0 |
1
|
0 |
0 |
1
|
SMC1A
|
0 |
1
|
0 |
0 |
0 |
1
|
SOX11
|
0 |
0 |
1
|
0 |
0 |
1
|
SOX18
|
0 |
0 |
1
|
0 |
0 |
1
|
SOX9
|
0 |
0 |
1
|
0 |
0 |
1
|
SUCLA2
|
0 |
0 |
1
|
0 |
0 |
1
|
TBCE
|
0 |
0 |
1
|
0 |
0 |
1
|
TMCO1
|
0 |
0 |
1
|
0 |
0 |
1
|
TMEM216
|
0 |
0 |
1
|
0 |
0 |
1
|
TNFRSF1A
|
0 |
0 |
1
|
0 |
0 |
1
|
TNNT2
|
0 |
1
|
0 |
0 |
0 |
1
|
TP53
|
0 |
1
|
0 |
0 |
0 |
1
|
TP63
|
1
|
0 |
0 |
0 |
0 |
1
|
TRMT5
|
0 |
0 |
1
|
0 |
0 |
1
|
TRNT1
|
0 |
0 |
1
|
0 |
0 |
1
|
TTC8
|
0 |
0 |
1
|
0 |
0 |
1
|
TTR
|
1
|
0 |
0 |
0 |
0 |
1
|
TXNL4A
|
0 |
0 |
1
|
0 |
0 |
1
|
UBR1
|
0 |
0 |
1
|
0 |
0 |
1
|
WNT4
|
0 |
0 |
1
|
0 |
0 |
1
|
XPNPEP3
|
0 |
0 |
1
|
0 |
0 |
1
|
XRCC4
|
0 |
0 |
1
|
0 |
0 |
1
|
XYLT2
|
0 |
0 |
1
|
0 |
0 |
1
|
YAP1
|
0 |
0 |
1
|
0 |
0 |
1
|
ZMPSTE24
|
0 |
0 |
1
|
0 |
0 |
1
|
ZNF423
|
0 |
0 |
1
|
0 |
0 |
1
|
ZNF687
|
0 |
0 |
1
|
0 |
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.