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 |
992
|
1336
|
3044
|
519
|
635
|
6416
|
Gene and significance breakdown #
Total genes and gene combinations: 248
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
USH2A
|
141
|
131
|
272
|
53
|
42
|
627
|
ABCA4
|
145
|
115
|
215
|
14
|
17
|
485
|
EYS
|
58
|
61
|
114
|
22
|
29
|
279
|
RP1L1
|
3
|
16
|
151
|
41
|
31
|
241
|
RPGR
|
58
|
75
|
43
|
2
|
10
|
181
|
CRB1
|
30
|
38
|
70
|
7
|
1
|
140
|
RP1
|
12
|
44
|
61
|
7
|
6
|
125
|
CEP290
|
19
|
17
|
65
|
12
|
8
|
120
|
CNGB1
|
10
|
16
|
68
|
8
|
16
|
117
|
PDE6B
|
14
|
23
|
61
|
7
|
2
|
105
|
PRPH2
|
25
|
39
|
28
|
1
|
14
|
103
|
PCARE
|
14
|
9
|
43
|
19
|
16
|
101
|
PROM1
|
17
|
21
|
51
|
9
|
4
|
100
|
KIAA1549
|
0 |
2
|
58
|
19
|
16
|
95
|
PRPF31
|
9
|
39
|
29
|
5
|
13
|
94
|
PRPF8
|
6
|
11
|
34
|
17
|
23
|
89
|
IMPG2
|
13
|
25
|
36
|
10
|
4
|
87
|
RHO
|
21
|
27
|
31
|
2
|
8
|
87
|
MERTK
|
5
|
13
|
47
|
6
|
9
|
79
|
SNRNP200
|
2
|
8
|
47
|
6
|
19
|
79
|
RBP3
|
1
|
6
|
52
|
13
|
5
|
77
|
IFT140
|
3
|
9
|
39
|
14
|
6
|
69
|
BEST1
|
20
|
17
|
21
|
4
|
5
|
67
|
PDE6A
|
7
|
7
|
39
|
6
|
7
|
65
|
NR2E3
|
12
|
11
|
25
|
10
|
6
|
60
|
IMPG1
|
0 |
5
|
23
|
2
|
29
|
58
|
ADGRA3
|
0 |
0 |
30
|
12
|
15
|
57
|
DHX38
|
0 |
3
|
28
|
18
|
6
|
55
|
EYS, PHF3
|
7
|
11
|
33
|
2
|
2
|
54
|
AGBL5
|
0 |
2
|
45
|
5
|
1
|
53
|
IMPDH1
|
0 |
7
|
31
|
2
|
12
|
51
|
MYO7A
|
15
|
16
|
20
|
0 |
0 |
51
|
TULP1
|
4
|
10
|
30
|
3
|
4
|
51
|
CHM
|
12
|
23
|
11
|
2
|
1
|
49
|
MAK
|
2
|
9
|
27
|
7
|
2
|
47
|
CERKL
|
8
|
13
|
18
|
5
|
3
|
46
|
RPE65
|
13
|
7
|
24
|
2
|
1
|
46
|
IFT140, LOC105371046
|
1
|
6
|
29
|
4
|
4
|
44
|
BBS2
|
9
|
7
|
21
|
2
|
4
|
43
|
CRX
|
7
|
15
|
12
|
2
|
9
|
43
|
FSCN2
|
0 |
3
|
9
|
6
|
25
|
43
|
ADGRV1
|
4
|
14
|
23
|
0 |
0 |
41
|
EMC1
|
0 |
2
|
24
|
7
|
8
|
41
|
TOPORS
|
4
|
4
|
7
|
9
|
16
|
40
|
HGSNAT
|
5
|
6
|
20
|
5
|
2
|
37
|
IFT172
|
1
|
1
|
29
|
6
|
0 |
37
|
CNGA3
|
22
|
8
|
6
|
0 |
0 |
36
|
CYP4V2
|
6
|
7
|
18
|
2
|
4
|
36
|
LRAT
|
0 |
1
|
29
|
4
|
1
|
35
|
HK1
|
1
|
2
|
12
|
4
|
16
|
34
|
SLC7A14
|
0 |
2
|
19
|
7
|
6
|
34
|
CNGA1, LOC101927157
|
4
|
8
|
20
|
0 |
1
|
33
|
RP2
|
6
|
14
|
13
|
1
|
0 |
32
|
SPATA7
|
3
|
3
|
19
|
5
|
2
|
32
|
PRPF6
|
0 |
2
|
13
|
5
|
11
|
30
|
ABCA4, LOC126805793
|
8
|
8
|
16
|
0 |
0 |
29
|
GUCY2D
|
6
|
9
|
15
|
0 |
0 |
28
|
ALMS1
|
11
|
11
|
4
|
0 |
0 |
26
|
TTC8
|
1
|
0 |
22
|
3
|
0 |
26
|
FAM161A
|
6
|
2
|
10
|
3
|
4
|
25
|
POMGNT1, TSPAN1
|
1
|
1
|
17
|
5
|
1
|
25
|
SAG
|
3
|
2
|
15
|
0 |
5
|
25
|
BBS1, ZDHHC24
|
4
|
6
|
11
|
3
|
1
|
24
|
CDKL5, RS1
|
15
|
7
|
2
|
0 |
0 |
24
|
CLRN1
|
5
|
4
|
14
|
0 |
1
|
24
|
GPHN, RDH12
|
6
|
8
|
9
|
0 |
3
|
24
|
GPHN, RDH12, ZFYVE26
|
5
|
7
|
9
|
2
|
0 |
23
|
KIZ
|
1
|
3
|
13
|
2
|
4
|
23
|
SEMA4A
|
0 |
2
|
7
|
1
|
13
|
23
|
KCNV2
|
4
|
10
|
8
|
0 |
0 |
22
|
PRPF3
|
1
|
2
|
14
|
2
|
3
|
22
|
CACNA1F
|
5
|
8
|
8
|
0 |
0 |
21
|
CDH23
|
3
|
11
|
8
|
0 |
0 |
21
|
ZNF408
|
0 |
3
|
12
|
5
|
1
|
21
|
CA4
|
0 |
2
|
6
|
2
|
10
|
20
|
LOC122152296, USH2A
|
4
|
4
|
11
|
0 |
0 |
19
|
LOC126860392, RP1
|
2
|
3
|
9
|
2
|
3
|
19
|
OFD1
|
1
|
0 |
10
|
6
|
2
|
19
|
RLBP1
|
3
|
3
|
10
|
1
|
2
|
19
|
RPGRIP1
|
2
|
14
|
3
|
0 |
0 |
19
|
OTX2
|
0 |
0 |
13
|
5
|
0 |
18
|
ROM1
|
0 |
1
|
8
|
1
|
8
|
18
|
TRNT1
|
1
|
0 |
11
|
2
|
4
|
18
|
AHI1
|
2
|
5
|
10
|
0 |
0 |
17
|
BBS1
|
3
|
2
|
10
|
1
|
1
|
17
|
CDHR1
|
4
|
8
|
6
|
0 |
0 |
17
|
IFT140, LOC126862260
|
1
|
3
|
8
|
2
|
2
|
16
|
RGR
|
1
|
0 |
10
|
1
|
4
|
16
|
ZNF513
|
0 |
0 |
12
|
3
|
1
|
16
|
C1QTNF5, MFRP
|
2
|
6
|
7
|
0 |
0 |
15
|
SPP2
|
0 |
2
|
2
|
2
|
9
|
15
|
BBS12
|
2
|
8
|
4
|
0 |
0 |
14
|
CNGB3
|
9
|
2
|
3
|
0 |
0 |
14
|
KLHL7
|
1
|
2
|
7
|
0 |
4
|
14
|
MVK
|
0 |
2
|
6
|
4
|
2
|
14
|
NEK2
|
0 |
5
|
5
|
1
|
3
|
14
|
NEUROD1
|
0 |
1
|
10
|
0 |
1
|
12
|
RIMS1
|
0 |
0 |
12
|
0 |
0 |
12
|
DHDDS
|
0 |
2
|
8
|
0 |
1
|
11
|
GUCA1B
|
0 |
0 |
1
|
1
|
9
|
11
|
PDE6C
|
0 |
6
|
5
|
0 |
0 |
11
|
GUCA1A, GUCA1ANB-GUCA1A
|
2
|
2
|
6
|
0 |
0 |
10
|
IFT172, KRTCAP3
|
0 |
0 |
7
|
2
|
1
|
10
|
IFT172, LOC126806173
|
0 |
1
|
7
|
1
|
1
|
10
|
INPP5E
|
1
|
2
|
7
|
0 |
0 |
10
|
LRP5
|
2
|
3
|
5
|
0 |
0 |
10
|
NRL
|
0 |
4
|
5
|
1
|
0 |
10
|
RAX2
|
0 |
3
|
7
|
0 |
0 |
10
|
CFAP418
|
0 |
0 |
7
|
1
|
1
|
9
|
CLN3
|
2
|
2
|
5
|
0 |
0 |
9
|
DRAM2
|
7
|
1
|
1
|
0 |
0 |
9
|
TTLL5
|
1
|
5
|
3
|
0 |
0 |
9
|
ABCA4, LOC126805794
|
1
|
2
|
4
|
0 |
1
|
8
|
CFAP410
|
2
|
5
|
1
|
0 |
0 |
8
|
CTNNA1
|
0 |
1
|
7
|
0 |
0 |
8
|
FLVCR1
|
1
|
1
|
6
|
0 |
0 |
8
|
IDH3B
|
0 |
0 |
8
|
0 |
0 |
8
|
IFT172, LOC126806174
|
0 |
0 |
7
|
0 |
1
|
8
|
IQCB1
|
7
|
1
|
0 |
0 |
0 |
8
|
LCA5
|
3
|
5
|
1
|
0 |
0 |
8
|
NMNAT1
|
5
|
3
|
0 |
0 |
0 |
8
|
NYX
|
2
|
2
|
4
|
0 |
0 |
8
|
AIPL1
|
1
|
1
|
5
|
0 |
0 |
7
|
ARL2BP
|
1
|
1
|
3
|
1
|
1
|
7
|
CEP78
|
0 |
6
|
1
|
0 |
0 |
7
|
NPHP4
|
0 |
2
|
5
|
0 |
0 |
7
|
PCDH15
|
2
|
3
|
2
|
0 |
0 |
7
|
RP9
|
0 |
0 |
5
|
0 |
2
|
7
|
TRPM1
|
2
|
2
|
3
|
0 |
0 |
7
|
WDR19
|
1
|
1
|
5
|
0 |
0 |
7
|
ABHD12
|
1
|
3
|
2
|
0 |
0 |
6
|
ARL3
|
0 |
0 |
1
|
0 |
5
|
6
|
BBS10
|
5
|
1
|
0 |
0 |
0 |
6
|
CYGB, PRCD
|
4
|
1
|
0 |
1
|
0 |
6
|
DHX38, LOC126862391
|
0 |
0 |
4
|
2
|
0 |
6
|
EFEMP1
|
1
|
0 |
5
|
0 |
0 |
6
|
GPR179
|
1
|
1
|
4
|
0 |
0 |
6
|
KIZ, LOC130065507
|
0 |
1
|
3
|
1
|
1
|
6
|
LOC130055387, NRL
|
0 |
3
|
3
|
0 |
0 |
6
|
LOC130068202, RP2
|
1
|
2
|
3
|
0 |
0 |
6
|
OPA1
|
2
|
2
|
2
|
0 |
0 |
6
|
PDE6G
|
0 |
0 |
5
|
0 |
1
|
6
|
BBS4
|
0 |
2
|
3
|
0 |
0 |
5
|
BEST1, FTH1
|
1
|
0 |
1
|
0 |
4
|
5
|
BLOC1S1-RDH5, RDH5
|
0 |
1
|
4
|
0 |
0 |
5
|
CEP290, RLIG1
|
1
|
0 |
4
|
0 |
0 |
5
|
CHM, LOC129391306
|
1
|
2
|
1
|
0 |
1
|
5
|
COL18A1
|
0 |
5
|
0 |
0 |
0 |
5
|
COL2A1
|
1
|
3
|
1
|
0 |
0 |
5
|
PITPNM3
|
0 |
0 |
5
|
0 |
0 |
5
|
RS1
|
0 |
4
|
1
|
0 |
0 |
5
|
VCAN
|
1
|
1
|
3
|
0 |
0 |
5
|
ADIPOR1
|
0 |
0 |
2
|
1
|
1
|
4
|
ARHGEF18
|
0 |
0 |
4
|
0 |
0 |
4
|
ARL6
|
0 |
1
|
2
|
1
|
0 |
4
|
BBS7
|
2
|
2
|
0 |
0 |
0 |
4
|
C10orf105, CDH23
|
0 |
2
|
2
|
0 |
0 |
4
|
CABP4
|
1
|
3
|
0 |
0 |
0 |
4
|
CACNA2D4
|
0 |
0 |
4
|
0 |
0 |
4
|
CERKL, ITGA4
|
0 |
1
|
3
|
0 |
0 |
4
|
GRM6, ZNF454
|
1
|
0 |
3
|
0 |
0 |
4
|
HGSNAT, LOC130000316
|
0 |
2
|
1
|
1
|
0 |
4
|
KIF11
|
0 |
3
|
1
|
0 |
0 |
4
|
LOC126806272, SNRNP200
|
0 |
1
|
2
|
0 |
1
|
4
|
MKKS
|
2
|
1
|
1
|
0 |
0 |
4
|
PEX1
|
3
|
1
|
0 |
0 |
0 |
4
|
PHYH
|
1
|
2
|
1
|
0 |
0 |
4
|
PRPF4
|
0 |
0 |
4
|
0 |
0 |
4
|
PRPS1
|
0 |
4
|
0 |
0 |
0 |
4
|
RPGRIP1L
|
0 |
0 |
4
|
0 |
0 |
4
|
SLC24A1
|
1
|
3
|
0 |
0 |
0 |
4
|
SYN3, TIMP3
|
1
|
0 |
3
|
0 |
0 |
4
|
USH1C
|
1
|
2
|
1
|
0 |
0 |
4
|
BBS9
|
1
|
0 |
2
|
0 |
0 |
3
|
CFAP418, LOC130000784
|
0 |
0 |
2
|
0 |
1
|
3
|
FAM161A, LOC129933843
|
0 |
0 |
1
|
1
|
1
|
3
|
FZD4, PRSS23
|
1
|
0 |
2
|
0 |
0 |
3
|
LOC112806037, MERTK
|
0 |
0 |
2
|
1
|
0 |
3
|
LOC129932452, NEK2
|
0 |
0 |
2
|
0 |
1
|
3
|
MFSD8
|
0 |
2
|
1
|
0 |
0 |
3
|
OAT
|
0 |
3
|
0 |
0 |
0 |
3
|
RAB28
|
0 |
1
|
2
|
0 |
0 |
3
|
ABHD12, LOC126863008
|
0 |
1
|
1
|
0 |
0 |
2
|
BLOC1S1-RDH5, CD63, RDH5
|
1
|
0 |
1
|
0 |
0 |
2
|
CACNA1F, LOC126863257
|
0 |
1
|
1
|
0 |
0 |
2
|
CAPN5
|
0 |
0 |
2
|
0 |
0 |
2
|
CDH3
|
1
|
0 |
1
|
0 |
0 |
2
|
CEP164
|
0 |
1
|
1
|
0 |
0 |
2
|
CERKL, LOC129935214
|
0 |
1
|
1
|
0 |
0 |
2
|
CNNM4
|
1
|
1
|
0 |
0 |
0 |
2
|
COL11A2
|
0 |
1
|
1
|
0 |
0 |
2
|
COL18A1, SLC19A1
|
1
|
1
|
0 |
0 |
0 |
2
|
CYP4V2, LOC129993526
|
0 |
0 |
0 |
0 |
2
|
2
|
DTHD1
|
0 |
0 |
2
|
0 |
0 |
2
|
ELOVL4
|
1
|
0 |
1
|
0 |
0 |
2
|
GIGYF2, KCNJ13
|
0 |
0 |
2
|
0 |
0 |
2
|
GNAT1
|
0 |
1
|
1
|
0 |
0 |
2
|
GRM6, LOC100130798, ZNF454
|
0 |
1
|
1
|
0 |
0 |
2
|
HARS1
|
0 |
0 |
2
|
0 |
0 |
2
|
IMPDH1, LOC129999258
|
0 |
0 |
1
|
0 |
1
|
2
|
KIAA0586
|
1
|
0 |
1
|
0 |
0 |
2
|
KIZ, LOC130065509
|
1
|
0 |
1
|
0 |
0 |
2
|
LOC126863090, PRPF6
|
0 |
1
|
0 |
0 |
1
|
2
|
LOC129998225, RP9
|
0 |
0 |
1
|
0 |
1
|
2
|
LOC130068098, RPGR
|
1
|
1
|
0 |
0 |
0 |
2
|
LRP2
|
0 |
2
|
0 |
0 |
0 |
2
|
PAX2
|
0 |
1
|
1
|
0 |
0 |
2
|
PEX6
|
0 |
0 |
2
|
0 |
0 |
2
|
POC1B
|
0 |
1
|
1
|
0 |
0 |
2
|
POMGNT1
|
0 |
0 |
2
|
0 |
0 |
2
|
REEP6
|
0 |
0 |
2
|
0 |
0 |
2
|
TSPAN12
|
0 |
1
|
1
|
0 |
0 |
2
|
TTC21B
|
1
|
1
|
0 |
0 |
0 |
2
|
VPS13B
|
0 |
2
|
0 |
0 |
0 |
2
|
WHRN
|
0 |
0 |
2
|
0 |
0 |
2
|
ACO2
|
0 |
0 |
1
|
0 |
0 |
1
|
ATP5ME, PDE6B
|
1
|
0 |
0 |
0 |
0 |
1
|
ATRIP, ATRIP-TREX1, TREX1
|
0 |
1
|
0 |
0 |
0 |
1
|
BBS5
|
0 |
1
|
0 |
0 |
0 |
1
|
CC2D2A
|
0 |
1
|
0 |
0 |
0 |
1
|
CDH23, LOC111982869
|
0 |
1
|
0 |
0 |
0 |
1
|
CEP250
|
0 |
0 |
1
|
0 |
0 |
1
|
CFAP410, LOC130066823
|
1
|
1
|
0 |
0 |
0 |
1
|
CWC27
|
0 |
1
|
0 |
0 |
0 |
1
|
FBLN5
|
0 |
0 |
1
|
0 |
0 |
1
|
FLVCR1, LOC129932486
|
0 |
0 |
1
|
0 |
0 |
1
|
FRMD7
|
1
|
0 |
0 |
0 |
0 |
1
|
GATAD1, PEX1
|
0 |
1
|
0 |
0 |
0 |
1
|
GNAT2
|
0 |
1
|
0 |
0 |
0 |
1
|
GNAT2, LOC129388577
|
0 |
1
|
0 |
0 |
0 |
1
|
GUCA1A, GUCA1ANB-GUCA1A, GUCA1B
|
0 |
1
|
0 |
0 |
0 |
1
|
HK1, LOC130003980
|
0 |
0 |
0 |
1
|
0 |
1
|
JAG1
|
0 |
1
|
0 |
0 |
0 |
1
|
LOC126805613, NMNAT1
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC126806913, OPA1
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC129933376, ZNF513
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC129996881, PRDM13
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC129998224, RP9
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC130056226, SPATA7
|
0 |
0 |
0 |
0 |
1
|
1
|
LOC130057872, RLBP1
|
0 |
1
|
0 |
0 |
0 |
1
|
LOC130063377, PNPLA6
|
0 |
0 |
1
|
0 |
0 |
1
|
MMACHC
|
0 |
1
|
0 |
0 |
0 |
1
|
PNPLA6
|
0 |
0 |
1
|
0 |
0 |
1
|
PRDM13
|
0 |
0 |
1
|
0 |
0 |
1
|
PRPF8, RILP
|
0 |
1
|
0 |
0 |
0 |
1
|
RIC3, TUB
|
0 |
1
|
0 |
0 |
0 |
1
|
TEAD3, TULP1
|
0 |
1
|
0 |
0 |
0 |
1
|
ZFYVE26
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Dept Of Ophthalmology, Nagoya University
|
207
|
311
|
1852
|
510
|
635
|
3515
|
Blueprint Genetics
|
789
|
852
|
1088
|
0 |
0 |
2729
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
9
|
87
|
78
|
0 |
0 |
174
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
28
|
84
|
6
|
0 |
0 |
118
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
37
|
9
|
0 |
46
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
6
|
9
|
7
|
0 |
0 |
22
|
Leeds Vision Research Group, University of Leeds
|
7
|
0 |
0 |
0 |
0 |
7
|
DBGen Ocular Genomics
|
3
|
3
|
1
|
0 |
0 |
7
|
Genetics and Molecular Pathology, SA Pathology
|
6
|
0 |
0 |
0 |
0 |
6
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
2
|
0 |
0 |
0 |
5
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
3
|
0 |
2
|
0 |
0 |
5
|
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
|
2
|
1
|
1
|
0 |
0 |
4
|
Department of Genetics, Fundacion Jimenez Diaz University Hospital
|
0 |
1
|
1
|
0 |
0 |
2
|
Hardcastle Lab, UCL Institute of Ophthalmology
|
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital Muenster
|
2
|
0 |
0 |
0 |
0 |
2
|
Rui Chen Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
1
|
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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