ClinVar Miner

Variants studied for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 affects association drug response established risk allele likely risk allele protective risk factor uncertain risk allele other not provided total
6302 5567 20094 11009 4034 5 2 6 2 5 2 11 45 1 153 43649

Gene and significance breakdown #

Total genes and gene combinations: 546
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele likely risk allele protective risk factor uncertain risk allele other not provided total
DYNC1H1 36 60 1351 2137 166 0 0 0 0 0 0 0 0 0 9 3607
RB1 695 78 1219 907 146 0 0 0 0 0 0 0 0 0 2 2898
USH2A 410 694 917 231 117 0 0 0 0 0 0 0 0 0 4 2083
CRB1 360 308 582 738 49 0 0 0 0 0 0 0 0 0 2 1821
GUCY2D 148 106 483 609 37 0 0 0 0 0 0 0 0 0 1 1327
EYS 192 368 529 104 73 0 0 0 0 0 0 0 0 0 0 1122
ABCA4 366 379 334 64 35 0 0 0 2 0 0 0 0 1 7 973
IFT172 44 27 471 421 26 0 0 0 0 0 0 0 0 0 0 965
RPGRIP1 134 59 460 285 39 0 0 0 0 0 0 0 0 0 2 907
HGSNAT 93 38 274 486 22 0 0 0 0 0 0 0 0 0 0 890
RPE65 205 127 287 371 26 0 0 0 0 0 0 0 0 0 0 887
CEP290 101 64 459 96 26 0 0 0 0 0 0 0 0 0 3 699
RP1L1 15 28 286 106 249 0 0 0 0 0 0 1 0 0 1 636
OAT 85 80 174 240 23 0 0 0 0 0 0 0 0 0 0 540
AIPL1 56 19 245 197 40 0 0 0 0 0 0 0 0 0 7 514
DHDDS 18 21 218 251 9 0 0 0 0 0 0 0 0 0 0 501
HMCN1 1 0 347 75 85 0 0 0 0 0 0 0 0 0 0 480
CRX 74 34 243 121 79 0 0 0 0 0 0 0 0 0 1 472
ATRIP, ATRIP-TREX1, TREX1 44 13 268 132 18 0 0 0 0 0 0 0 0 0 0 461
CP 70 7 222 149 43 0 0 0 0 0 0 0 0 0 2 455
RPGR 191 182 72 9 15 0 0 0 0 0 0 0 0 0 0 440
SPATA7 43 19 214 113 24 0 0 0 0 0 0 0 0 0 4 389
CNGB3 106 74 164 36 38 0 0 0 0 0 0 0 0 0 3 367
GPHN, RDH12 65 56 116 164 8 0 0 0 0 0 0 0 0 0 2 366
CNGB1 34 48 228 35 47 0 0 0 0 0 0 0 0 0 1 355
LRP5 29 30 173 93 6 0 0 0 0 0 0 0 0 0 3 328
PCARE 36 26 188 41 53 0 0 0 0 0 0 0 0 0 0 325
GDF6 4 0 159 133 24 0 0 0 0 0 0 0 0 0 0 315
COL2A1 84 48 99 34 36 0 0 0 0 0 0 0 0 0 5 296
RP1 58 79 138 27 18 0 0 0 0 0 0 0 0 0 0 296
PDE6B 50 56 180 31 61 0 0 0 0 0 0 0 0 0 2 289
PRPH2 76 98 107 29 45 0 0 0 0 0 0 0 0 0 1 282
NR2E3 35 77 147 46 18 0 0 0 0 0 0 0 0 0 0 280
IMPG2 38 38 171 20 17 0 0 0 0 0 0 0 0 0 0 265
RHO 69 95 103 17 29 0 0 0 0 0 0 0 0 0 4 263
VCAN 9 3 95 85 140 0 0 0 0 0 0 0 0 0 11 259
LCA5 37 47 153 23 11 0 0 0 0 0 0 0 0 0 5 257
PDE6A 43 29 157 18 30 0 0 0 0 0 0 0 0 0 0 254
CHST6 19 8 153 32 50 0 0 0 0 0 0 0 0 0 0 250
PROM1 44 43 152 58 38 0 0 0 0 0 0 0 0 0 4 246
CNGA3 67 86 96 9 10 0 0 0 0 0 0 0 0 0 1 241
COL11A1 15 28 129 37 34 0 0 0 0 0 0 0 0 0 5 241
PRPF31 58 85 76 14 22 0 0 0 0 0 0 0 0 0 0 240
RD3 10 0 165 49 19 0 0 0 0 0 0 0 0 0 1 236
C3 0 3 122 63 49 0 0 0 0 0 0 0 0 0 0 234
IFT140 8 27 145 50 11 0 0 0 0 0 0 0 0 0 1 231
PRPF8 17 19 122 41 43 0 0 0 0 0 0 0 0 0 1 230
FAM161A 19 57 125 22 17 0 0 0 0 0 0 0 0 0 0 222
ARL6 28 11 77 100 4 0 0 0 0 0 0 0 0 0 0 214
GPR179 9 8 135 27 30 0 0 0 0 0 0 0 0 0 3 209
RBP3 8 12 167 20 12 0 0 0 0 0 0 0 0 0 2 209
CERKL 33 87 90 17 16 0 0 0 0 0 0 0 0 0 0 208
BEST1 70 68 62 15 17 0 0 0 0 0 0 0 0 0 3 204
CACNA2D4 5 4 110 22 66 0 0 0 0 0 0 0 0 0 1 200
GPHN, RDH12, ZFYVE26 35 27 71 83 4 0 0 0 0 0 0 0 0 0 1 195
MERTK 33 35 105 16 18 0 0 0 0 0 0 0 0 0 0 193
SNRNP200 11 15 120 30 32 0 0 0 0 0 0 0 0 0 0 192
NMNAT1 54 33 67 49 5 0 0 0 0 0 0 0 0 0 1 190
CFH 7 3 106 49 41 0 0 0 0 0 0 6 0 0 0 189
CDHR1 17 17 134 11 11 0 0 0 0 0 0 0 0 0 0 184
EYS, PHF3 45 76 85 11 4 0 0 0 0 0 0 0 0 0 0 180
TRPM1 23 22 94 16 34 0 0 0 0 0 0 0 0 0 0 179
COL18A1 14 12 91 13 44 0 0 0 0 0 0 0 0 0 1 174
FLVCR1 9 8 101 9 47 0 0 0 0 0 0 0 0 0 1 171
IFT172, KRTCAP3 12 7 79 68 8 0 0 0 0 0 0 0 0 0 0 166
TULP1 46 35 84 5 8 0 0 0 0 0 0 0 0 0 0 164
PITPNM3 2 0 88 21 57 0 0 0 0 0 0 0 0 0 0 160
RIMS1 1 1 80 21 51 0 0 0 0 0 0 0 0 0 0 154
CHM 54 41 35 14 10 0 0 0 0 0 0 0 0 0 5 150
BBS2 22 16 79 28 10 0 0 0 0 0 0 0 0 0 0 148
KCNV2 24 25 72 15 20 0 0 0 0 0 0 0 0 0 0 148
PDE6C 31 22 78 11 10 0 0 0 0 0 0 0 0 0 1 147
CTC1 23 16 63 21 27 0 0 0 0 0 0 0 0 0 0 142
IFT172, LOC126806173 9 4 69 57 5 0 0 0 0 0 0 0 0 0 1 140
IFT140, LOC105371046 13 20 75 27 8 0 0 0 0 0 0 0 0 0 0 138
FZD4, PRSS23 9 7 71 6 45 0 0 0 0 0 0 0 0 0 0 135
DYNC1H1, LOC126862060 1 2 50 82 4 0 0 0 0 0 0 0 0 0 0 134
IMPDH1 8 15 94 19 18 0 0 0 0 0 0 0 0 0 0 133
C1QTNF5, MFRP 3 8 95 32 5 0 0 0 0 0 0 0 0 0 0 130
SYN3, TIMP3 6 0 78 6 40 0 0 0 0 0 0 0 0 0 0 130
CDH3 3 3 92 7 22 0 0 0 0 0 0 0 0 0 0 127
TTC8 6 30 77 12 3 0 0 0 0 0 0 0 0 0 0 126
LRAT 8 14 90 11 7 0 0 0 0 0 0 0 0 0 0 121
COL18A1, SLC19A1 11 7 61 22 23 0 0 0 0 0 0 0 0 0 0 119
KIAA1549 5 3 61 28 21 0 0 0 0 0 0 0 0 0 0 118
SLC24A1 9 4 81 10 14 0 0 0 0 0 0 0 0 0 0 118
CNGA1, LOC101927157 24 22 67 4 7 0 0 0 0 0 0 0 0 0 1 116
TOPORS 9 7 60 22 24 0 0 0 0 0 0 0 0 0 1 116
CYP4V2 42 15 49 10 10 0 0 0 0 0 0 0 0 0 0 115
CTNNA1 6 10 87 8 3 0 0 0 0 0 0 0 0 0 1 113
RP2 27 32 40 7 12 0 0 0 0 0 0 0 0 0 0 113
CABP4 10 7 76 7 17 0 0 0 0 0 0 0 0 0 0 111
CACNA1F 41 38 24 6 7 0 0 0 0 0 0 0 0 0 0 111
KIF11 41 38 23 3 1 0 0 0 0 0 0 0 0 0 2 105
SEMA4A 4 2 78 23 27 0 0 0 0 0 0 0 0 0 0 104
HGSNAT, LOC130000316 6 5 22 68 3 0 0 0 0 0 0 0 0 0 0 101
ELP4, PAX6 2 0 57 1 37 0 0 0 0 0 0 0 0 0 0 97
PRPF6 2 3 57 13 25 0 0 0 0 0 0 0 0 0 0 96
TGFBR2 1 0 0 48 0 0 0 0 0 4 0 0 43 0 0 96
RAX2 9 4 54 18 26 0 0 0 0 0 0 0 0 0 0 91
CLDN19 9 7 61 2 13 0 0 0 0 0 0 0 0 0 0 90
SAG 13 6 54 10 16 0 0 0 0 0 0 0 0 0 0 87
CDKL5, RS1 36 39 12 7 3 0 0 0 0 0 0 0 0 0 0 86
MAK 13 25 40 8 4 0 0 0 0 0 0 0 0 0 0 86
RLBP1 11 11 56 17 13 0 0 0 0 0 0 0 0 0 0 85
CYP4V2, KLKB1 0 0 69 3 11 0 0 0 0 0 0 0 0 0 0 83
CFAP418 8 2 58 18 11 0 0 0 0 0 0 0 0 0 0 81
IFT172, LOC126806174 6 1 31 40 2 0 0 0 0 0 0 0 0 0 0 77
IMPG1 12 9 30 2 29 0 0 0 0 0 0 0 0 0 2 77
ADAM9 10 2 51 8 5 0 0 0 0 0 0 0 0 0 0 76
TUBGCP6 8 16 35 7 9 0 0 0 0 0 0 0 0 0 2 74
POMGNT1, TSPAN1 13 7 39 7 8 0 0 0 0 0 0 0 0 0 1 73
TSPAN12 16 9 31 3 14 0 0 0 0 0 0 0 0 0 0 72
EFEMP1 1 2 24 8 37 0 0 0 0 0 0 0 0 0 0 71
FBLN5 8 0 45 13 12 0 0 0 0 0 0 0 0 0 0 71
ELOVL4 4 1 40 7 19 0 0 0 0 0 0 0 0 0 0 68
FBN2 2 3 45 10 7 0 0 0 0 0 0 0 0 0 0 67
GIGYF2, KCNJ13 8 3 52 3 3 0 0 0 0 0 0 0 0 0 0 67
GNAT1 7 4 34 3 20 0 0 0 0 0 0 0 0 0 0 67
DHX38 2 5 34 19 8 0 0 0 0 0 0 0 0 0 0 66
LRIT3 7 0 44 7 8 0 0 0 0 0 0 0 0 0 1 66
AGBL5 3 5 50 6 2 0 0 0 0 0 0 0 0 0 0 65
KLHL7 6 6 36 10 13 0 0 0 0 0 0 0 0 0 0 65
OFD1 7 0 27 27 5 0 0 0 0 0 0 0 0 0 0 65
CYGB, PRCD 8 3 47 3 6 0 0 0 0 0 0 0 0 0 0 64
CLRN1 14 33 18 0 1 0 0 0 0 0 0 0 0 0 1 63
FLVCR2 0 0 42 5 16 0 0 0 0 0 0 0 0 0 0 63
NYX 10 11 28 8 6 0 0 0 0 0 0 0 0 0 0 63
PRPF3 6 3 38 7 10 0 0 0 0 0 0 0 0 0 0 61
ABCA4, LOC126805793 26 23 27 2 2 0 0 0 0 0 0 0 0 0 0 60
MYO7A 17 19 23 0 0 0 0 0 0 0 0 0 0 0 0 59
ROM1 1 1 41 10 11 0 0 0 0 0 0 0 0 0 0 59
ADGRA3 0 1 30 12 15 0 0 0 0 0 0 0 0 0 0 58
GUCA1A, GUCA1ANB-GUCA1A 9 16 30 3 2 0 0 0 0 0 0 0 0 0 0 57
LOC122152296, USH2A 14 19 26 4 1 0 0 0 0 0 0 0 0 0 0 57
LOC121815974, OAT 10 9 8 31 1 0 0 0 0 0 0 0 0 0 0 55
GUCA1B 1 0 32 7 19 0 0 0 0 0 0 0 0 0 0 54
FSCN2 1 3 15 11 26 0 0 0 0 0 0 0 0 0 0 53
RGR 3 3 42 1 7 0 0 0 0 0 0 0 0 0 0 52
NRL 8 9 22 7 8 0 0 0 0 0 0 0 0 0 0 51
C2 2 0 39 6 3 0 0 0 0 0 1 0 0 0 0 50
CERKL, ITGA4 4 3 33 2 7 0 0 0 0 0 0 0 0 0 0 48
GNAT2 14 5 25 4 4 0 0 0 0 0 0 0 0 0 1 48
LOC126860392, RP1 6 11 24 6 6 0 0 0 0 0 0 0 0 0 0 48
IDH3B 3 0 41 1 2 0 0 0 0 0 0 0 0 0 0 47
ADGRV1 4 16 26 0 0 0 0 0 0 0 0 0 0 0 0 46
HK1 2 6 15 5 20 0 0 0 0 0 0 0 0 0 0 46
CA4 1 2 20 11 16 0 0 0 0 0 0 0 0 0 0 45
ALMS1 21 18 4 0 0 0 0 0 0 0 0 0 0 0 0 43
EMC1 0 2 24 7 8 0 0 0 0 0 0 0 0 0 0 41
SLC7A14 4 2 22 10 7 0 0 0 0 0 0 0 0 0 0 41
IFT43 1 1 24 12 3 0 0 0 0 0 0 0 0 0 0 40
ZNF513 1 1 34 5 1 0 0 0 0 0 0 0 0 0 0 40
NDP 26 14 2 0 0 0 0 0 0 0 0 0 0 0 0 39
TINF2 2 0 21 5 13 0 0 0 0 0 0 0 0 0 1 39
CFB 0 0 27 7 4 0 0 0 0 0 0 0 0 0 0 38
HTRA1 2 0 24 5 5 0 0 0 0 0 0 1 0 0 0 37
IFT140, LOC126862260 3 4 18 8 3 0 0 0 0 0 0 0 0 0 0 36
BLOC1S1-RDH5, RDH5 9 6 12 5 3 0 0 0 0 0 0 0 0 0 1 35
ZNF408 4 5 20 5 1 0 0 0 0 0 0 0 0 0 1 34
ACO2 7 5 12 4 6 0 0 0 0 0 0 0 0 0 1 33
BBS1, ZDHHC24 10 9 11 3 1 0 0 0 0 0 0 0 0 0 0 33
PDE6G 2 0 20 3 9 0 0 0 0 0 0 0 0 0 0 33
ATF6 14 8 2 1 7 0 0 0 0 0 0 0 0 0 2 32
UNC119 1 0 13 4 14 0 0 0 0 0 0 0 0 0 0 32
MFSD8 7 10 11 5 0 0 0 0 0 0 0 0 0 0 0 31
PAX6 3 2 15 5 6 0 0 0 0 0 0 0 0 0 0 31
CEP290, RLIG1 5 6 20 1 0 0 0 0 0 0 0 0 0 0 0 30
ERCC6 0 0 6 11 13 0 0 0 0 0 0 0 0 0 0 30
CP, HPS3 0 1 13 11 6 0 0 0 0 0 0 0 0 0 0 29
COL9A1 4 3 18 3 0 0 0 0 0 0 0 0 0 0 1 28
GRM6, ZNF454 6 4 7 3 8 0 0 0 0 0 0 0 0 0 1 28
ABCA4, LOC126805794 9 6 9 4 1 0 0 0 0 0 0 0 0 0 0 27
CDH23 4 13 11 0 0 0 0 0 0 0 0 0 0 0 0 27
TTLL5 14 7 3 0 3 0 0 0 0 0 0 0 0 0 1 27
BEST1, FTH1 3 4 10 15 8 0 0 0 0 0 0 0 0 0 0 26
C2, CFB 1 0 6 22 9 0 0 0 0 0 1 0 0 0 0 26
KIZ 1 3 13 5 4 0 0 0 0 0 0 0 0 0 0 26
AHI1 7 8 11 0 0 0 0 0 0 0 0 0 0 0 0 25
CC2D2A 7 3 12 3 0 0 0 0 0 0 0 0 0 0 0 25
RIC3, TUB 2 2 15 0 6 0 0 0 0 0 0 0 0 0 0 24
ARMS2 0 0 8 10 9 0 0 0 0 0 0 2 0 0 0 23
ATIC 4 1 6 5 8 0 0 0 0 0 0 0 0 0 0 23
BLOC1S1-RDH5, CD63, RDH5 6 2 13 2 1 0 0 0 0 0 0 0 0 0 0 23
CLN3 9 8 8 0 0 0 0 0 0 0 0 0 0 0 0 23
GRK1 5 20 1 1 0 0 0 0 0 0 0 0 0 0 0 23
RP9 1 1 11 1 10 0 0 0 0 0 0 0 0 0 0 23
RS1 4 12 4 1 3 0 0 0 0 0 0 0 0 0 0 22
FAM161A, LOC129933843 0 7 10 3 1 0 0 0 0 0 0 0 0 0 0 21
LPAR6, RB1 9 0 1 2 9 0 0 0 0 0 0 0 0 0 0 21
BBS1 4 3 12 1 1 0 0 0 0 0 0 0 0 0 0 20
COL9A2 2 2 11 3 1 0 0 0 0 0 0 0 0 0 2 20
ARHGEF18 5 2 12 0 0 0 0 0 0 0 0 0 0 0 1 19
LOC130056226, SPATA7 3 2 12 3 2 0 0 0 0 0 0 0 0 0 0 19
OTX2 1 0 13 5 0 0 0 0 0 0 0 0 0 0 0 19
IKBKG 16 1 1 0 0 0 0 0 0 0 0 0 0 0 1 18
NEK2 1 5 7 2 3 0 0 0 0 0 0 0 0 0 0 18
PDE6H 2 1 12 1 5 0 0 0 0 0 0 0 0 0 1 18
TRNT1 1 0 11 2 4 0 0 0 0 0 0 0 0 0 0 18
XYLT2 2 5 3 0 8 0 0 0 0 0 0 0 0 0 0 18
CFAP418, LOC130000784 2 0 13 2 1 0 0 0 0 0 0 0 0 0 0 17
GUCA1A, GUCA1B 0 0 0 17 17 0 0 0 0 0 0 0 0 0 0 17
LOC130068202, RP2 5 3 8 2 0 0 0 0 0 0 0 0 0 0 0 17
REEP6 5 1 4 0 7 0 0 0 0 0 0 0 0 0 0 17
ACO2, POLR3H 9 3 7 0 0 0 0 0 0 0 0 0 0 0 0 16
BBS12 2 9 5 0 0 0 0 0 0 0 0 0 0 0 0 16
CHM, LOC129391306 6 4 3 1 2 0 0 0 0 0 0 0 0 0 0 16
DRAM2 8 4 2 0 2 0 0 0 0 0 0 0 0 0 0 16
ARL2BP 9 2 3 1 1 0 0 0 0 0 0 0 0 0 0 15
IQCB1 11 5 0 0 0 0 0 0 0 0 0 0 0 0 0 15
POC1B 7 2 4 0 2 0 0 0 0 0 0 0 0 0 0 15
SPP2 0 2 2 2 9 0 0 0 0 0 0 0 0 0 0 15
CERKL, LOC129935215 1 4 10 2 0 0 0 0 0 0 0 0 0 0 0 14
CYP4V2, LOC129993526 1 1 6 1 6 0 0 0 0 0 0 0 0 0 0 14
GRM6 6 4 3 1 1 0 0 0 0 0 0 0 0 0 0 14
MVK 0 2 6 4 2 0 0 0 0 0 0 0 0 0 0 14
ADAMTS18 5 2 6 0 2 0 0 0 0 0 0 0 0 0 0 13
CERKL, LOC129935214 3 5 6 1 1 0 0 0 0 0 0 0 0 0 0 13
CFAP410 5 7 2 0 0 0 0 0 0 0 0 0 0 0 0 13
LOC130055387, NRL 2 4 7 0 1 0 0 0 0 0 0 0 0 0 0 13
RAB28 5 6 3 0 0 0 0 0 0 0 0 0 0 0 0 13
RCBTB1 3 6 2 0 5 0 0 0 0 0 0 0 0 0 0 13
ARL3 3 0 5 0 6 0 0 0 0 0 0 0 0 0 0 12
FZD4 2 0 3 3 4 0 0 0 0 0 0 0 0 0 2 12
NEUROD1 0 1 10 0 1 0 0 0 0 0 0 0 0 0 0 12
SNX17, ZNF513 0 0 11 0 1 0 0 0 0 0 0 0 0 0 0 12
WDR19 2 2 8 0 0 0 0 0 0 0 0 0 0 0 0 12
CEP78 4 6 1 0 0 0 0 0 0 0 0 0 0 0 0 11
CIMIP3, GUCA1A, GUCA1ANB-GUCA1A 0 0 9 0 2 0 0 0 0 0 0 0 0 0 0 11
DYNC1H1, LOC130056502 0 1 7 3 0 0 0 0 0 0 0 0 0 0 0 11
IDH3A 9 2 2 0 0 0 0 0 0 0 0 0 0 0 0 11
IMPDH1, LOC129999258 1 0 9 0 2 0 0 0 0 0 0 0 0 0 0 11
INPP5E 1 3 7 0 0 0 0 0 0 0 0 0 0 0 0 11
LOC126862088, TRPM1 3 2 5 1 1 0 0 0 0 0 0 0 0 0 0 11
LOC130055404, TINF2 0 0 5 1 5 0 0 0 0 0 0 0 0 0 0 11
NPHP4 0 4 7 0 0 0 0 0 0 0 0 0 0 0 0 11
COL9A3 7 2 1 0 0 0 0 0 0 0 0 0 0 0 0 10
VPS13B 5 4 0 0 1 0 0 0 0 0 0 0 0 0 0 10
CAPN5 4 0 4 1 0 0 0 0 0 0 0 0 0 0 1 9
CTC1, PFAS 1 2 5 1 0 0 0 0 0 0 0 0 0 0 0 9
DHX38, LOC126862391 0 0 5 2 0 0 0 0 0 0 0 0 0 0 2 9
LOC129933377, ZNF513 0 0 8 1 0 0 0 0 0 0 0 0 0 0 0 9
OPA1 3 2 4 0 0 0 0 0 0 0 0 0 0 0 0 9
POMGNT1 1 0 7 0 1 0 0 0 0 0 0 0 0 0 0 9
PRPF4 2 0 7 0 0 0 0 0 0 0 0 0 0 0 0 9
STN1 2 0 3 1 3 0 0 0 0 0 0 0 0 0 0 9
TSTD3, USP45 1 0 2 0 6 0 0 0 0 0 0 0 0 0 0 9
ABHD12 2 3 3 0 0 0 0 0 0 0 0 0 0 0 0 8
ARMS2, HTRA1 0 0 0 8 0 0 0 0 0 0 0 0 0 0 0 8
BBS4 2 3 4 0 0 0 0 0 0 0 0 0 0 0 0 8
BNAT1, COL18A1 1 0 7 1 0 0 0 0 0 0 0 0 0 0 0 8
CTNNB1 3 1 2 2 0 0 0 0 0 0 0 0 0 0 0 8
GUCA1A, GUCA1ANB-GUCA1A, GUCA1B 1 1 1 6 1 0 0 0 0 0 0 0 0 0 0 8
KIZ, LOC130065507 2 1 3 1 1 0 0 0 0 0 0 0 0 0 0 8
LOC130060555, UNC119 1 0 6 1 1 0 0 0 0 0 0 0 0 0 0 8
PCDH15 2 4 2 0 0 0 0 0 0 0 0 0 0 0 0 8
RB1, RB1-DT 0 1 7 0 0 0 0 0 0 0 0 0 0 0 0 8
APOE 0 1 3 3 0 0 0 0 0 0 0 0 0 0 0 7
BBS10 5 2 0 0 0 0 0 0 0 0 0 0 0 0 0 7
CFHR3 0 0 1 4 2 0 0 0 0 0 0 0 0 0 0 7
CNGA1 0 0 6 0 1 0 0 0 0 0 0 0 0 0 0 7
GNAT2, LOC129388577 3 1 5 0 0 0 0 0 0 0 0 0 0 0 0 7
LOC112806037, MERTK 3 0 4 1 0 0 0 0 0 0 0 0 0 0 0 7
OPN1LW 4 0 1 0 2 0 0 0 0 0 0 0 0 0 0 7
PLA2G5 1 0 0 1 0 5 0 0 0 0 0 0 0 0 0 7
TUBB4B 2 2 5 0 0 0 0 0 0 0 0 0 0 0 0 7
BBS7 3 3 0 0 0 0 0 0 0 0 0 0 0 0 0 6
CEP290, LOC129390514 2 1 3 1 0 0 0 0 0 0 0 0 0 0 0 6
CTNNB1, LOC126806659 4 0 1 1 0 0 0 0 0 0 0 0 0 0 0 6
DYNC1H1, LOC125078040 0 0 4 0 2 0 0 0 0 0 0 0 0 0 0 6
FLVCR1, LOC129932486 0 0 5 0 1 0 0 0 0 0 0 0 0 0 0 6
LOC126805613, NMNAT1 1 4 1 0 0 0 0 0 0 0 0 0 0 0 0 6
LOC126806272, SNRNP200 0 1 3 1 1 0 0 0 0 0 0 0 0 0 0 6
LOC126863090, PRPF6 0 1 3 0 2 0 0 0 0 0 0 0 0 0 0 6
PHYH 3 4 1 0 0 0 0 0 0 0 0 0 0 0 0 6
RGS9 1 0 3 1 0 0 0 2 0 0 0 0 0 0 0 6
RGS9BP 3 0 1 0 0 0 0 2 0 0 0 0 0 0 0 6
TEAD1 2 0 1 2 2 0 0 0 0 0 0 0 0 0 0 6
C10orf105, CDH23 0 2 3 0 0 0 0 0 0 0 0 0 0 0 0 5
CACNA1F, LOC126863257 1 3 2 0 0 0 0 0 0 0 0 0 0 0 0 5
COL11A1, LOC126805814 0 0 5 0 0 0 0 0 0 0 0 0 0 0 0 5
COQ8B 0 4 0 0 0 0 0 0 0 1 0 0 0 0 0 5
LOC106014249, PAX6 0 0 4 0 1 0 0 0 0 0 0 0 0 0 0 5
LOC112841608, SNRNP200 0 0 3 0 2 0 0 0 0 0 0 0 0 0 0 5
LOC129936399, TGFBR2 0 0 0 3 0 0 0 0 0 0 0 0 2 0 0 5
LOC129998225, RP9 0 1 2 1 1 0 0 0 0 0 0 0 0 0 0 5
PANK2 3 0 2 0 0 0 0 0 0 0 0 0 0 0 0 5
PRPS1 0 5 0 0 0 0 0 0 0 0 0 0 0 0 0 5
RBP4 2 0 1 0 2 0 0 0 0 0 0 0 0 0 0 5
RDH12 0 2 3 0 0 0 0 0 0 0 0 0 0 0 0 5
RPGRIP1L 0 1 4 0 0 0 0 0 0 0 0 0 0 0 0 5
UBAP1L 4 1 0 0 0 0 0 0 0 0 0 0 0 0 0 5
USH1C 2 2 1 0 0 0 0 0 0 0 0 0 0 0 0 5
ADIPOR1 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 4
BBS5 0 3 0 1 0 0 0 0 0 0 0 0 0 0 0 4
BBS9 1 1 2 0 0 0 0 0 0 0 0 0 0 0 0 4
CNNM4 1 1 2 0 0 0 0 0 0 0 0 0 0 0 0 4
FZD4, LOC130006562 0 0 3 0 1 0 0 0 0 0 0 0 0 0 0 4
HMCN1, LOC129388665 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 4
IDH3B, LOC129391150 0 0 3 1 0 0 0 0 0 0 0 0 0 0 0 4
IMPDH1, LOC107986845 0 0 3 1 0 0 0 0 0 0 0 0 0 0 0 4
ITM2B, MED4, NUDT15, RB1 3 0 1 0 0 0 0 0 0 0 0 0 0 0 0 4
KIZ, LOC130065509 2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 4
LOC111365204, PRDM13 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4
LOC130068098, RPGR 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 4
MKKS 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 4
PBX3 0 3 1 0 0 0 0 0 0 0 0 0 0 0 0 4
PEX1 3 1 0 0 0 0 0 0 0 0 0 0 0 0 1 4
PRPF31, TFPT 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 4
SMIM27, TOPORS 0 0 2 1 1 0 0 0 0 0 0 0 0 0 0 4
ADAM9, LOC130000261 1 0 1 0 1 0 0 0 0 0 0 0 0 0 0 3
ATOH7 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 3
DTHD1 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 3
ERCC6, LOC130003806 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 3
HGSNAT, POMK 1 0 2 0 0 0 0 0 0 0 0 0 0 0 0 3
IGFBP7 2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 3
ITM2B, LPAR6, MED4, NUDT15, RB1 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 3
LOC129932452, NEK2 0 0 2 0 1 0 0 0 0 0 0 0 0 0 0 3
LOC129933376, ZNF513 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 3
LOC130055403, TINF2 0 1 0 1 1 0 0 0 0 0 0 0 0 0 0 3
OPN1MW 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3
PAK2 1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 3
PRDM13 0 0 2 0 0 0 0 0 0 0 0 0 0 0 1 3
PTCH1 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 3
WHRN 0 1 2 0 0 0 0 0 0 0 0 0 0 0 0 3
​intergenic 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
ABCB4 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
ABHD12, LOC126863008 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 2
ACBD5 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
ADAMTS18, LOC126862407 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
ARL6, EPHA6 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 2
ATP5ME, PDE6B 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2
CABP4, LOC130006201 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
CCT2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
CDCA3, GNB3 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 2
CDHR1, LOC130004216 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 2
CEMIP2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
CEP164 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 2
CHST6, LOC130059434 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
CLCC1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 2
COL11A2 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 2
CTNNB1, LOC126806658 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 2
CX3CR1 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 2
EML3, ROM1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
ERCC6, LOC126860933 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 2
ERCC6, PGBD3 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 2
EYS, LOC132089416 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
FFAR4, RBP4 2 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
GNB3 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
HARS1 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
HKDC1 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 2
HKDC1, LOC126860950 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 2
HMCN1, LOC126805953 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
KIAA0586 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 2
LOC111365204 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
LOC126863089, PRPF6 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 2
LOC129996707, RIMS1 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 2
LOC130005659, ZNF408 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
LOC130009754, LOC130009755, LPAR6, RB1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
LOC130060086, PITPNM3 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 2
LRP2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
MAPKAPK3 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 2
MMACHC 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
NDUFA3, PRPF31, TFPT 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
NRL, PCK2 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
PAX2 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 2
PEX6 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
PIMREG, PITPNM3 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 2
PPT1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
SAMD11 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
SAMD7 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
SGSH 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
SLC6A6 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
TTC21B 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2
TUB 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
VSX2 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 2
VWA8 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 2
ABCA4, LOC112590828, LOC126805793, LOC126805794 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
ABCC4, ABHD13, ACOD1, ADPRHL1, AKAP11, ALG11, ALG5, ALOX5AP, AMER2, ANKRD10, ANKRD10-IT1, ARGLU1, ARHGEF7, ARL11, ATP11A, ATP11AUN, ATP12A, ATP4B, ATP7B, ATP8A2, ATXN8OS, B3GLCT, BIVM, BIVM-ERCC5, BORA, BRCA2, C1QTNF9, C1QTNF9B, CAB39L, CARS2, CBY2, CCDC122, CCDC168, CCDC169, CCDC169-SOHLH2, CCDC70, CCNA1, CDADC1, CDC16, CDK8, CDX2, CENPJ, CHAMP1, CKAP2, CLDN10, CLN5, CLYBL, CNMD, COG3, COG6, COL4A1, COL4A2, COMMD6, CPB2, CRYL1, CSNK1A1L, CUL4A, CYSLTR2, DACH1, DAOA, DCLK1, DCT, DCUN1D2, DGKH, DHRS12, DIAPH3, DIS3, DLEU1, DLEU2, DLEU7, DNAJC15, DNAJC3, DOCK9, DZIP1, EBPL, EDNRB, EEF1AKMT1, EFNB2, ELF1, ENOX1, EPSTI1, ERCC5, ERICH6B, ESD, EXOSC8, F10, F7, FAM124A, FAM216B, FARP1, FBXL3, FGF14, FGF9, FLT1, FLT3, FNDC3A, FOXO1, FREM2, FRY, GAS6, GGACT, GJA3, GJB2, GJB6, GPALPP1, GPC5, GPC6, GPR12, GPR18, GPR180, GPR183, GRTP1, GSX1, GTF2F2, GTF3A, HMGB1, HNRNPA1L2, HS6ST3, HSPH1, HTR2A, IFT88, IL17D, ING1, INTS6, IPO5, IRS2, ITGBL1, ITM2B, KATNAL1, KBTBD6, KBTBD7, KCNRG, KCTD12, KCTD4, KL, KLF12, KLF5, KLHL1, KPNA3, LACC1, LAMP1, LATS2, LCP1, LHFPL6, LIG4, LINC00402, LINC00427, LINC00543, LINC00558, LINC00567, LMO7, LMO7DN, LNX2, LOC100288208, LPAR6, LRCH1, LRRC63, MAB21L1, MBNL2, MCF2L, MED4, MEDAG, METTL21C, MICU2, MIPEP, MIR15A, MIR16-1, MIR17, MIR17HG, MIR18A, MIR19A, MIR19B1, MIR20A, MIR4500HG, MIR92A1, MLNR, MPHOSPH8, MRPL57, MRPS31, MTIF3, MTMR6, MTRF1, MTUS2, MYCBP2, MYO16, MZT1, N4BP2L1, N4BP2L2, NAA16, NALCN, NALF1, NAXD, NBEA, NDFIP2, NEK3, NEK5, NHLRC3, NUDT15, NUFIP1, NUP58, OBI1, OLFM4, OXGR1, PABPC3, PAN3, PARP4, PCCA, PCDH17, PCDH20, PCDH8, PCDH9, PCID2, PCOTH, PDS5B, PDX1, PHF11, PIBF1, POGLUT2, POLR1D, POMP, POSTN, POU4F1, PROSER1, PROZ, PRR20A, PRR20B, PRR20C, PRR20D, PRR20E, PSPC1, RAB20, RAP2A, RASA3, RASL11A, RB1, RBM26, RCBTB1, RCBTB2, RFC3, RFXAP, RGCC, RNASEH2B, RNF113B, RNF17, RNF6, RPL21, RUBCNL, RXFP2, SACS, SAP18, SCEL, SERP2, SERPINE3, SERTM1, SETDB2, SGCG, SHISA2, SIAH3, SKA3, SLAIN1, SLC10A2, SLC15A1, SLC25A15, SLC25A30, SLC46A3, SLC7A1, SLITRK1, SLITRK5, SLITRK6, SMAD9, SMIM2, SOHLH2, SOX1, SOX21, SPACA7, SPART, SPATA13, SPRY2, SPRYD7, STARD13, STK24, STOML3, SUCLA2, SUGT1, SUPT20H, SWINGN, TBC1D4, TDRD3, TEX26, TEX29, TEX30, TFDP1, TGDS, THSD1, TM9SF2, TMCO3, TMEM255B, TMTC4, TNFRSF19, TNFSF11, TNFSF13B, TPP2, TPT1, TPTE2, TRIM13, TRPC4, TSC22D1, TUBA3C, TUBGCP3, UBAC2, UBL3, UCHL3, UFM1, UGGT2, UPF3A, URAD, USP12, USPL1, UTP14C, VPS36, VWA8, WASF3, WBP4, WDFY2, XPO4, ZAR1L, ZC3H13, ZDHHC20, ZIC2, ZIC5, ZMYM2, ZMYM5 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, ATP6AP1-DT, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM223A, FAM223B, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IL9R, IRAK1, L1CAM, LAGE3, LOC101927830, LOC105373383, LOC106146143, LOC106146144, LOC106146150, LOC106146151, LOC106146152, LOC107181288, LOC107522039, LOC107838685, LOC107988021, LOC107988022, LOC107988024, LOC107988025, LOC107988032, LOC107988033, LOC108281126, LOC111365170, LOC111589209, LOC113875014, LOC113875015, LOC113875016, LOC116309161, LOC116309162, LOC121627985, LOC121627986, LOC121853071, LOC121853072, LOC125467793, LOC125467794, LOC125467795, LOC126863349, LOC129929050, LOC129929051, LOC129929052, LOC130068821, LOC130068822, LOC130068823, LOC130068824, LOC130068825, LOC130068826, LOC130068827, LOC130068828, LOC130068829, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, LOC130068835, LOC130068836, LOC130068837, LOC130068838, LOC130068839, LOC130068840, LOC130068841, LOC130068842, LOC130068843, LOC130068844, LOC130068845, LOC130068846, LOC130068847, LOC130068848, LOC130068849, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068854, LOC130068855, LOC130068856, LOC130068857, LOC130068858, LOC130068859, LOC130068860, LOC130068861, LOC130068862, LOC130068863, LOC130068864, LOC130068865, LOC130068866, LOC130068867, LOC130068868, LOC130068869, LOC130068870, LOC130068871, LOC130068872, LOC130068873, LOC130068874, LOC130068875, LOC130068876, LOC130068877, LOC130068878, LOC130068879, LOC130068880, LOC130068881, LOC130068882, LOC130068883, LOC130068884, LOC130068885, LOC130068886, LOC130068887, LOC130068888, LOC130068889, LOC130068890, LOC130068891, LOC130068892, LOC130068893, LOC130068894, LOC130068895, LOC130068896, LOC130068897, LOC130068898, MECP2, MIR1184-1, MIR1184-2, MIR1184-3, MIR3202-1, MIR3202-2, MIR664B, MIR6858, MIR718, MPP1, MTCP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, PDZD4, PLXNA3, PLXNB3, PNCK, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SNORA36A, SNORA56, SNORA70, SPRY3, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VAMP7, VBP1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
ACO2, LOC130067544 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
ADAMTS18, LOC126862407, LOC126862408, LOC132090415 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, PPP2R5C, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
AGTR1, ANKUB1, COMMD2, CP, CPA3, CPB1, GYG1, HLTF, HPS3, RNF13, TM4SF1, TM4SF18, TM4SF4, WWTR1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
AHR 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
AIPL1, C17orf100, KIAA0753, MED31, PIMREG, PITPNM3, SLC13A5, TXNDC17 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
AIPL1, PIMREG, PITPNM3 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, CNTROB, GUCY2D 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, GUCY2D, HES7, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
AMIGO3, AMT, APEH, ARIH2, ARIH2OS, BSN, C3orf62, CAMKV, CCDC71, CDHR4, CELSR3, CIMIP7, COL7A1, DAG1, DALRD3, GMPPB, GNAI2, GNAT1, GPX1, HYAL1, HYAL3, IFRD2, IHO1, IMPDH2, INKA1, IP6K1, IP6K2, KLHDC8B, LAMB2, LSMEM2, MIR191, MON1A, MST1, MST1R, NAA80, NCKIPSD, NDUFAF3, NICN1, P4HTM, PFKFB4, PRKAR2A, QARS1, QRICH1, RBM5, RBM6, RHOA, RNF123, SEMA3B, SEMA3F, SHISA5, SLC25A20, SLC26A6, SLC38A3, TCTA, TMEM89, TRAIP, TREX1, UBA7, UCN2, UQCRC1, USP19, USP4, WDR6 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
AMN, ANKRD9, CINP, DYNC1H1, HSP90AA1, MOK, RCOR1, TECPR2, TRAF3, WDR20, ZNF839 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
ARG2, ATP6V1D, EIF2S1, FUT8, GARIN2, GPHN, PALS1, PIGH, PLEK2, PLEKHH1, RAD51B, RDH11, RDH12, TMEM229B, VTI1B, ZFYVE26 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
ARID1A, AUNIP, CATSPER4, CD52, CEP85, CNKSR1, CRYBG2, DHDDS, EXTL1, FAM110D, GPATCH3, GPN2, HMGN2, KDF1, LDLRAP1, LIN28A, MAN1C1, MTFR1L, NR0B2, NUDC, PAFAH2, PAQR7, PDIK1L, PIGV, RPS6KA1, SELENON, SFN, SH3BGRL3, SLC30A2, STMN1, TRIM63, UBXN11, ZDHHC18, ZNF593, ZNF683 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
ASPM, CFHR2, CFHR5, CRB1, DENND1B, F13B, ZBTB41 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
ASPM, CRB1, ZBTB41 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
ATOH7, LOC130003943 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
ATOH7, LOC132089834 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
ATP5ME, MYL5, PDE6B, SLC49A3 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
B3GAT3, ROM1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
BBS2, OGFOD1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
BCAR1, CFDP1, CHST6, CTRB1, CTRB2, FA2H, LDHD, TMEM170A, WDR59, ZFP1, ZNRF1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
BICRA, C5AR1, C5AR2, CCDC9, CRX, DHX34, EHD2, INAFM1, KPTN, LINC01595, LOC112552166, LOC116286191, LOC121627882, LOC121627883, LOC121852990, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC130064806, LOC130064807, LOC130064808, LOC130064809, LOC130064810, LOC130064811, LOC130064812, LOC130064813, LOC130064814, LOC130064815, LOC130064816, LOC130064817, LOC130064818, LOC130064819, LOC130064820, LOC130064821, LOC130064822, LOC130064823, LOC130064824, LOC130064825, LOC130064826, LOC130064827, LOC130064828, LOC130064829, LOC130064830, LOC130064831, MEIS3, NAPA, NOP53, SELENOW, SLC8A2, SNORD23, SULT2A1, TPRX1, TPRX2, ZNF541 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
C16orf92, TLCD3B 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
C1QTNF5 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
CABP4, GPR152 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1
CABP4, LOC130006202 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
CCDC81, CCDC83, CCDC89, CREBZF, DLG2, EED, FZD4, HIKESHI, ME3, PICALM, PRSS23, SYTL2, TMEM126A, TMEM126B, TMEM135 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CDH23, LOC111982869 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CDKN2A 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
CEP250 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
CERKL, ITGA4, ITPRID2, LOC108281145, LOC112806063, LOC122861261, LOC122861262, LOC126806440, LOC129388961, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, NEUROD1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CFAP410, LOC130066823 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CFAP418, GDF6, MTERF3, NDUFAF6, PLEKHF2, PTDSS1, UQCRB 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
CFAP47, CXorf22, CXorf30, CYBB, DYNLT3, FAM47C, H2AP, LANCL3, MAGEB16, OTC, PRRG1, RPGR, SRPX, SYTL5, TSPAN7, XK 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CFHR1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
CFHR1, CFHR3 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CHD8, HNRNPC, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
CHD8, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CHN1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CLDN16 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CLEC3B 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CLUAP1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CNGB1, LOC130059126 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
COL11A1, RNPC3 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
COL1A1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
COL4A3, MFF-DT 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
COL4A5 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
COL9A1, LOC129996692 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1
COL9A3, LOC126863084 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
COPB2-DT, RBP1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
CRLF1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CRX, LINC01595, SULT2A1, TPRX1, TPRX2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
CRX, SULT2A1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
CRX, SULT2A1, TPRX1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
CRX, TPRX2 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 1
CRYGS 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CST3, LOC130065547 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1
CTAG1A, IKBKG 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
CWC27 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
DCT 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1
DEPDC1, RPE65 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
DYNC1H1, LOC130056499, LOC130056500, PPP2R5C 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
DYNC1H1, PPP2R5C 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
EML5, GALC, GPR65, KCNK10, PTPN21, SPATA7, TTC8, ZC3H14 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
EYS, LOC113175011 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
EYS, LOC129996683 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
EYS, LOC132089415 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
EYS, LOC132089415, LOC132089416 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
EYS, LOC132089417 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
EYS, LOC132089417, LOC132089418, LOC132089419, LOC132089420, LOC132089421, LOC132089422, LOC132089423, LOC132089424, LOC132089425, LOC132090758, LOC132090759, LOC132205963 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
EYS, LOC441155 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
FANCM 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
FLVCR1, LOC129932485 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
FNDC4, GCKR, IFT172 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
FNTA, HGSNAT, POMK, POTEA 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
FRMD7 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
FZD4, LOC130006561 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1
G6PD, IKBKG, LOC108281126 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
GATAD1, PEX1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
GLDC 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
GNAI3, GNAT2, MIR197 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
HGSNAT, LOC121740716, LOC130000316, LOC130000317, LOC130000318, LOC130000319, LOC130000320, LOC130000321, POMK 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
HGSNAT, POTEA 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
HIVEP2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
HK1, LOC130003980 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
HKDC1, LOC101928994 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
IFT88 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
IKBKG, LOC107988021 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
INPP1, LOC129935252 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
IQCE 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
ITM2B 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
ITM2B, LOC124885096, LOC130009751, LOC130009752, LOC130009753, LOC130009754, LOC130009755, RB1, RB1-DT 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
ITM2B, LOC130009752 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
ITM2B, LPAR6, MED4, NUDT15, RB1, SUCLA2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
JAG1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
KCTD3, USH2A 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
KIF1A 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
LARGE1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
LCA5, LOC129996749, SH3BGRL2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC111828517, RAB28 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC112806037, LOC122817727, LOC129934574, LOC129934575, MERTK, TMEM87B 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC112806037, LOC122817727, MERTK 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC112806037, LOC129934573, MERTK 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC125384566, LOC130065345, LOC130065346, LOC130065347, MIR103A2, MIR103B2, PANK2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC125467793, OPN1LW, OPN1MW, OPSIN-LCR 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC126805688, YARS1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC126806305, LOC126806306, LOC129934555, LOC129934556, MALL, MTLN, NPHP1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC126806913, OPA1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC126806932, PCYT1A 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC126863212, OFD1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC129996708, RIMS1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC129996881, PRDM13 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC129998224, RP9 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC130008356, POC1B, POC1B-GALNT4 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC130009754, LOC130009755, RB1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC130057872, RLBP1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC130060085, PITPNM3 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1
LOC130063377, PNPLA6 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC130064160, LOC130064161, RGS9BP 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1
LOC130064161, RGS9BP 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1
LOC130066413, PRPF6 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1
LOXHD1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
LOXL3 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
LRRC32 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
MAX 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
MC1R 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1
MDM1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
MERTK, MKS1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
MERTK, TMEM87B 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1
MIP 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
MIR211, TRPM1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
MKS1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
MUTYH 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
MYH9 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1
NDC1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
NEK9 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
NF1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
NKX1-2, OAT 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
NLRP9 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
NPHP1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
NPHP3, NPHP3-ACAD11 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
OPA3 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
P3H2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
PALB2 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
PCDH12, RNF14 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
PHKA2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
PNPLA6 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
POC5 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
POT1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
PRPF8, RILP 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 1
PRPH2, UBR2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
RDH11, RDH12, ZFYVE26 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
SCAPER 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
SLC38A8 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
SRD5A3 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
SSBP1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
TEAD3, TULP1 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
TENM4 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
TGM1, TINF2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
TLCD3B 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
VHL 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
WFS1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
ZFYVE26 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
ZNF91 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 308
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele likely risk allele protective risk factor uncertain risk allele other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1641 319 6340 7802 669 0 0 0 0 0 0 0 0 0 0 16771
Illumina Laboratory Services, Illumina 28 17 6903 1537 2425 0 0 0 0 0 0 0 0 0 0 10366
Dept Of Ophthalmology, Nagoya University 207 311 1852 510 635 0 0 0 0 0 0 0 0 0 0 3515
Blueprint Genetics 807 877 1095 0 0 0 0 0 0 0 0 0 0 0 0 2775
Fulgent Genetics, Fulgent Genetics 292 174 1371 678 81 0 0 0 0 0 0 0 0 0 0 2596
Genome-Nilou Lab 168 246 912 326 774 0 0 0 0 0 0 0 0 0 0 2426
Baylor Genetics 765 1100 206 0 0 0 0 0 0 0 0 0 0 0 0 2071
Natera, Inc. 224 62 1199 266 172 0 0 0 0 0 0 0 0 0 0 1923
OMIM 1108 0 11 0 2 5 0 6 0 0 2 11 0 0 0 1144
Counsyl 93 235 269 60 5 0 0 0 0 0 0 0 0 0 0 662
Molecular Genetics Laboratory, Institute for Ophthalmic Research 494 61 44 1 7 0 0 0 0 0 0 0 0 0 0 598
Mendelics 239 84 63 45 88 0 0 0 0 0 0 0 0 0 0 519
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine 368 31 43 15 1 0 0 0 0 0 0 0 0 0 0 458
Sharon lab, Hadassah-Hebrew University Medical Center 310 139 0 0 0 0 0 0 0 0 0 0 0 0 0 449
Ocular Genomics Institute, Massachusetts Eye and Ear 127 174 129 1 1 0 0 0 0 0 0 0 0 0 0 432
NIHR Bioresource Rare Diseases, University of Cambridge 86 312 28 5 0 0 0 0 0 0 0 0 0 0 0 431
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 108 210 99 0 0 0 0 0 0 0 0 0 0 0 0 414
Laboratory of Genetics in Ophthalmology, Institut Imagine 260 143 10 1 0 0 0 0 0 0 0 0 0 0 0 414
All of Us Research Program, National Institutes of Health 0 0 250 125 31 0 0 0 0 0 0 0 0 0 0 406
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 112 140 101 3 2 0 0 0 0 0 0 0 0 0 0 356
DBGen Ocular Genomics 132 87 100 0 2 0 0 0 0 0 0 0 0 0 0 321
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 180 118 0 0 0 0 0 0 0 0 0 0 0 0 1 299
3billion 114 110 64 6 0 0 0 0 0 0 0 0 0 0 0 294
Centre for Mendelian Genomics, University Medical Centre Ljubljana 67 63 137 4 4 0 0 0 0 0 0 0 0 0 0 273
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 38 132 91 0 0 0 0 0 0 0 0 0 0 0 0 261
Revvity Omics, Revvity 63 58 79 0 0 0 0 0 0 0 0 0 0 0 0 200
Institute of Human Genetics, University of Leipzig Medical Center 77 52 52 4 0 0 0 0 2 0 0 0 0 0 0 186
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 67 55 56 3 1 0 0 0 0 0 0 0 0 0 0 182
Institute of Medical Molecular Genetics, University of Zurich 8 154 0 0 0 0 0 0 0 0 0 0 0 0 0 162
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 5 31 36 86 0 0 0 0 0 0 0 0 0 0 161
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 82 52 15 0 0 0 0 0 0 1 0 0 0 0 0 150
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 69 16 56 7 0 0 0 0 0 0 0 0 0 0 0 148
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 91 12 42 0 0 0 0 0 0 0 0 0 0 0 0 145
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 95 41 7 0 0 0 0 0 0 0 0 0 0 0 0 143
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 99 32 3 0 2 0 0 0 0 0 0 0 0 0 0 136
GeneReviews 78 0 0 0 0 0 0 0 0 0 0 0 0 0 54 131
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 57 56 15 0 0 0 0 0 0 0 0 0 0 0 0 128
ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen 66 25 11 15 8 0 0 0 0 0 0 0 0 0 0 125
MGZ Medical Genetics Center 36 48 36 2 0 0 0 0 0 0 0 0 0 0 0 122
Genetics and Molecular Pathology, SA Pathology 51 30 33 0 0 0 0 0 0 0 0 0 0 0 0 114
Genomics England Pilot Project, Genomics England 55 53 0 0 0 0 0 0 0 0 0 0 0 0 0 107
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 38 55 13 0 0 0 0 0 0 0 0 0 0 0 0 106
Department of Ophthalmology and Visual Sciences Kyoto University 46 58 0 0 0 0 0 0 0 0 0 0 0 0 0 104
Neuberg Centre For Genomic Medicine, NCGM 18 35 49 0 0 0 0 0 0 0 0 0 0 0 0 102
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 1 0 0 51 0 0 0 0 0 4 0 0 45 0 0 101
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 5 51 31 0 0 0 0 0 0 0 0 0 0 90
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 25 33 25 0 0 0 0 0 0 0 0 0 0 0 0 83
New York Genome Center 3 6 74 0 0 0 0 0 0 0 0 0 0 0 0 83
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 37 36 3 0 0 0 0 0 0 0 0 0 0 0 0 76
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 50 4 0 0 0 0 0 0 0 0 0 0 0 56
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 0 0 0 0 0 48 48
Genomic Research Center, Shahid Beheshti University of Medical Sciences 14 9 23 1 0 0 0 0 0 0 0 0 0 0 0 47
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 38 0 0 0 0 0 0 0 0 0 0 0 5 44
SIB Swiss Institute of Bioinformatics 2 27 15 0 0 0 0 0 0 0 0 0 0 0 0 44
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 41 0 0 0 0 0 0 0 0 0 0 0 0 41
Department of Medical Genetics, Erciyes University Faculty of Medicine 2 23 14 0 0 0 0 0 0 0 0 0 0 0 0 39
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 16 2 20 0 0 0 0 0 0 0 0 0 0 0 0 38
MVZ Medizinische Genetik Mainz 8 18 12 0 0 0 0 0 0 0 0 0 0 0 0 38
INSERM U1051, Institut des Neurosciences de Montpellier 14 14 9 0 0 0 0 0 0 0 0 0 0 0 0 37
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 0 0 0 0 0 36 36
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 13 22 0 0 0 0 0 0 0 0 0 0 0 0 0 35
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 33 0 0 0 0 0 0 0 0 0 0 0 0 0 34
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 20 8 5 0 0 0 0 0 0 0 0 0 0 0 0 33
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 29 0 0 0 0 0 0 0 0 0 0 32
Molecular Genetics, Royal Melbourne Hospital 11 10 6 0 5 0 0 0 0 0 0 0 0 0 0 32
Myriad Genetics, Inc. 4 22 2 0 0 0 0 0 0 0 0 0 0 0 0 28
Institute of Vision Research, Yonsei University College of Medicine 17 11 0 0 0 0 0 0 0 0 0 0 0 0 0 28
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 9 14 0 0 0 0 0 0 0 0 0 0 0 0 28
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 8 12 6 0 0 0 0 0 0 0 0 0 0 0 0 26
Institute of Human Genetics, University of Goettingen 4 5 16 0 0 0 0 0 0 0 0 0 0 0 0 25
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 20 5 0 0 0 0 0 0 0 0 0 0 0 0 0 25
Rui Chen Lab, Baylor College of Medicine 19 2 1 2 0 0 0 0 0 0 0 0 0 0 0 24
Molecular Diagnostics Laboratory, Seoul National University Hospital 10 0 12 0 0 0 0 0 0 0 0 0 0 0 0 22
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 2 12 3 3 0 0 0 0 0 0 0 0 0 0 22
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 3 3 15 0 0 0 0 0 0 0 0 0 0 0 0 21
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 13 7 0 0 0 0 0 0 0 0 0 0 0 0 0 20
Service de Génétique Moléculaire, Hôpital Robert Debré 3 12 0 5 0 0 0 0 0 0 0 0 0 0 0 20
Color Diagnostics, LLC DBA Color Health 0 0 5 3 12 0 0 0 0 0 0 0 0 0 0 20
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 8 11 1 0 0 0 0 0 0 0 0 0 0 0 0 20
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 10 6 4 0 0 0 0 0 0 0 0 0 0 0 0 20
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 3 12 5 0 0 0 0 0 0 0 0 0 0 0 0 20
Centogene AG - the Rare Disease Company 5 6 8 0 0 0 0 0 0 0 0 0 0 0 0 19
Molecular Medicine, University of Leeds 0 19 0 0 0 0 0 0 0 0 0 0 0 0 0 19
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 9 9 0 0 0 0 0 0 0 0 0 0 0 0 0 18
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 3 10 0 0 0 0 0 0 0 0 0 0 0 0 18
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 6 6 6 0 0 0 0 0 0 0 0 0 0 0 0 18
UCLA Clinical Genomics Center, UCLA 4 12 0 0 0 0 0 0 0 0 0 0 0 0 0 16
Johns Hopkins Genomics, Johns Hopkins University 4 3 7 2 0 0 0 0 0 0 0 0 0 0 0 16
Genetic Services Laboratory, University of Chicago 10 5 0 0 0 0 0 0 0 0 0 0 0 0 0 15
Knight Diagnostic Laboratories, Oregon Health and Sciences University 5 6 3 1 0 0 0 0 0 0 0 0 0 0 0 15
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 7 7 0 0 0 0 0 0 0 0 0 0 0 0 15
Autoinflammatory diseases unit, CHU de Montpellier 7 8 0 0 0 0 0 0 0 0 0 0 0 0 0 15
Siriraj Ophthalmic Genetics Research, Faculty of Medicine Siriraj Hospital, Mahidol University 5 6 3 0 0 0 0 0 0 0 0 0 0 0 0 14
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 12 0 0 0 0 0 0 0 0 0 0 14
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 4 4 5 0 0 0 0 0 0 0 0 0 0 0 0 13
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 7 6 0 0 0 0 0 0 0 0 0 0 0 0 0 13
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 5 8 0 0 0 0 0 0 0 0 0 0 0 0 13
Cytogenetics and Genomics Laboratory, Medical University of South Carolina 2 5 6 0 0 0 0 0 0 0 0 0 0 0 0 13
Pars Genome Lab 3 0 2 8 0 0 0 0 0 0 0 0 0 0 0 13
Pangenia Genomics, Pangenia Inc. 6 2 5 0 0 0 0 0 0 0 0 0 0 0 0 13
Genetic Eye Disease Investigation Unit, University of Auckland 4 7 2 0 0 0 0 0 0 0 0 0 0 0 0 13
Department of Medical Genetics, College of Basic Medicine, Army Medical University 5 2 5 0 0 0 0 0 0 0 0 0 0 0 0 12
Reproductive Health Research and Development, BGI Genomics 8 0 3 0 1 0 0 0 0 0 0 0 0 0 0 12
Institute of Human Genetics, University Hospital Muenster 7 2 2 0 1 0 0 0 0 0 0 0 0 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 1 1 9 0 0 0 0 0 0 0 0 0 0 0 0 11
Hadassah Hebrew University Medical Center 2 5 2 2 0 0 0 0 0 0 0 0 0 0 0 11
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 11 0 0 0 0 0 0 0 0 0 0 11
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 5 5 1 0 0 0 0 0 0 0 0 0 0 0 0 11
Center for Human Genetics, Inc, Center for Human Genetics, Inc 4 4 2 0 0 0 0 0 0 0 0 0 0 0 0 10
Leeds Vision Research Group, University of Leeds 10 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10
Division of Human Genetics, Children's Hospital of Philadelphia 5 2 3 0 0 0 0 0 0 0 0 0 0 0 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 6 1 0 0 0 0 0 0 0 0 0 0 0 0 10
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University 10 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 1 7 0 0 0 0 0 0 0 0 0 0 0 0 10
Moosajee Lab, UCL Institute of Ophthalmology 2 5 3 0 0 0 0 0 0 0 0 0 0 0 0 10
Center for Medical Genetics Ghent, University of Ghent 3 4 2 0 0 0 0 0 0 0 0 0 0 0 0 9
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 2 2 5 0 0 0 0 0 0 0 0 0 0 0 0 9
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 7 0 0 0 0 0 0 0 0 0 0 0 0 0 9
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 6 2 1 0 0 0 0 0 0 0 0 0 0 0 0 9
DASA 7 2 0 0 0 0 0 0 0 0 0 0 0 0 0 9
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 8 0 0 0 0 0 0 0 0 0 0 0 0 0 0 8
Center of Genomic medicine, Geneva, University Hospital of Geneva 5 1 2 0 0 0 0 0 0 0 0 0 0 0 0 8
Breakthrough Genomics, Breakthrough Genomics 4 4 0 0 0 0 0 0 0 0 0 0 0 0 0 8
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 4 1 0 0 0 0 0 0 0 0 0 0 0 7
Clinical Genomics Laboratory, Washington University in St. Louis 3 2 2 0 0 0 0 0 0 0 0 0 0 0 0 7
Hyderabad Eye Research Foundation, L V Prasad Eye Institute 0 0 7 0 0 0 0 0 0 0 0 0 0 0 0 7
Undiagnosed Diseases Network, NIH 2 3 2 0 0 0 0 0 0 0 0 0 0 0 0 7
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 1 4 2 0 0 0 0 0 0 0 0 0 0 0 0 7
Center of Medical Genetics, Central South University 2 2 1 1 1 0 0 0 0 0 0 0 0 0 0 7
Department of Ophthalmology, California Pacific Medical Center 1 4 2 0 0 0 0 0 0 0 0 0 0 0 0 7
Genetics Program, Instituto Nacional de Cancer 7 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7 7
Palindrome, Gene Kavoshgaran Aria 7 0 0 0 0 0 0 0 0 0 0 0 0 0 0 7
Eye Genetics Research Group, Children's Medical Research Institute 2 4 0 0 0 0 0 0 0 0 0 0 0 0 0 6
Database of Curated Mutations (DoCM) 0 6 0 0 0 0 0 0 0 0 0 0 0 0 0 6
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 3 2 0 0 0 0 0 0 0 0 0 0 0 0 6
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 3 1 0 0 0 0 0 0 0 0 0 0 0 6
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 3 2 1 0 0 0 0 0 0 0 0 0 0 0 6
Arcensus 0 5 1 0 0 0 0 0 0 0 0 0 0 0 0 6
Solve-RD Consortium 0 6 0 0 0 0 0 0 0 0 0 0 0 0 0 6
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 4 0 0 0 0 0 0 0 0 0 0 0 0 0 5
Dept of Medicine and Surgery, University of Milano-Bicocca 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 1 1 0 0 0 0 0 0 0 0 0 0 0 0 5
Laboratory of Human Molecular Genetics, Department of Medical Research, Taipei Veterans General Hospital 2 2 1 0 0 0 0 0 0 0 0 0 0 0 0 5
Medical Molecular Genetics Department, National Research Center 3 2 0 0 0 0 0 0 0 0 0 0 0 0 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 4 1 0 0 0 0 0 0 0 0 0 0 0 0 0 5
Suma Genomics, Suma Genomics 3 0 1 1 0 0 0 0 0 0 0 0 0 0 0 5
Wuhan Primbio Medical Laboratory 2 2 1 0 0 0 0 0 0 0 0 0 0 0 0 5
Dr.Nikuei Genetic Center 2 0 0 2 1 0 0 0 0 0 0 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 1 0 0 0 0 0 0 0 0 0 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 2 0 2 0 0 0 0 0 0 0 0 0 0 0 0 4
Hardcastle Lab, UCL Institute of Ophthalmology 0 4 0 0 0 0 0 0 0 0 0 0 0 0 0 4
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4
Breda Genetics srl 1 2 0 1 0 0 0 0 0 0 0 0 0 0 0 4
Leeds Institute of Medical Research, University of Leeds 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4
Sydney Genome Diagnostics, Children's Hospital Westmead 0 3 1 0 0 0 0 0 0 0 0 0 0 0 0 4
Department of Human Genetics, Hannover Medical School 1 2 1 0 0 0 0 0 0 0 0 0 0 0 0 4
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 3 0 0 0 0 0 0 0 0 0 0 0 0 0 4
Institute of Human Genetics, Cologne University 0 2 1 0 0 0 0 0 0 0 0 0 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 3
Miami Human Genetics, University Of Miami Miller School Of Medicine 1 1 1 0 0 0 0 0 0 0 0 0 0 0 0 3
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 1 1 1 0 0 0 0 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 1 2 0 0 0 0 0 0 0 0 0 0 0 0 3
Laboratorio de Imunogenetica e Histocompatibilidade, Universidade Federal do Parana 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3
Servicio Extremeño de Salud, Hospital de Mérida 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 3
Medgenome Labs Pvt Ltd 1 1 1 0 0 0 0 0 0 0 0 0 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 1 1 1 0 0 0 0 0 0 0 0 0 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 3
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 3
Genetics Laboratory, Department of Biology, Semnan University 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 3
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 3
Section for Clinical Neurogenetics, University of Tübingen 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 3
Godley laboratory, The University of Chicago 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 3
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 2 0 0 0 0 0 0 0 0 0 0 0 0 0 3
Payam Genetics Center, General Welfare Department of North Khorasan Province 2 1 0 0 0 0 0 0 0 0 0 0 0 0 0 3
Igenomix - Part of Vitrolife Group, Igenomix 0 2 1 0 0 0 0 0 0 0 0 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 0 0 0 0 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Sema4, Sema4 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Medical Molecular Genetics, University of Birmingham 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
GenePathDx, GenePath diagnostics 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
Rappaport Faculty of Medicine, Technion-Israel Institute of Technology 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 2
Noruzinia Laboratory, Tarbiat Modares University 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 2
Genetics Department, University Hospital of Toulouse 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 2
Leiden Open Variation Database 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Hemoglobin and Genome Lab, University of Campinas 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Edmonton Ocular Genetics, Alberta Health Services 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Australian Inherited Retinal Disease Registry & DNA Bank, Sir Charles Gairdner Hospital 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 2
ClinGen Hearing Loss Variant Curation Expert Panel 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Wessex Regional Genetics Laboratory, Salisbury District Hospital 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
deCODE genetics, Amgen 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
The Cell Therapy Center, The University of Jordan 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Molecular Medicine, University of Pavia 1 0 1 0 0 0 0 0 0 0 0 0 0 0 0 2
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Henan Ocular Pharmacology and Therapeutics International Laboratory, Henan Provincial People’s Hospital 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2
School of Computer Science, University of Waterloo 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Genetic Diagnostics Department, Viafet Genomics Laboratory 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
The Key Laboratory for Human Disease Gene Study of Sichuan Province, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 2
Institute of Neurology, Charite University of Medicine 0 1 0 1 0 0 0 0 0 0 0 0 0 0 0 2
Pediatric Genetics, Postgraduate Institute of Medical Education and Research, Chandigarh (PGIMER) 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 2
School of Pharmacy, University of Eastern Finland 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Northern Molecular Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Unit, Terrassa Hospital 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1
Personalis, Inc. 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Erez Levanon lab, Bar Ilan University 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, Gazi University 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
Department of Animal Sciences, Quaid-i-Azam University 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Human Molecular Genetics Laboratory, Federal University of Parana 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Hunan Clinical Research Center of Ophthalmic Disease, The Second Xiangya Hospital 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Omics Laboratory, Stanford University 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Pediatrics Department, University of Wisconsin 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, University of Pecs 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1
Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Heon Lab, The Hospital for Sick Children 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Tongji Hospital, Huazhong University of Science and Technology 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Maternalfetal Medicine, Genetics and Reproduction, University Hospital Virgen del Rocio/CIBERER 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Ophthalmology Department, Faculty of Medicine, Ain Shams University 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Biswas-Fiss Lab at the Ammon Pinizzotto Biopharmaceutical Innovation Center, University of Delaware 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Human Genetics, Hazara University Mansehra 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Kunming Medical University 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Medical Research Center, Medical College, Shaoxing University 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Medical Retina And Imaging, Irccs Ospedale San Raffaele 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Laboratorio De Medicina Genomica, Universidad Icesi 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Department Of Ophthalmology, Xi'an People's Hospital 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Karadeniz Technical University 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1
Chongqing Key Laboratory of Prevention and Treatment of Major Blinding Diseases, The First Affiliated Hospital of Chongqing Medical University 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1

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