ClinVar Miner

Variants studied for inborn disorder of amino acid and other organic acid metabolism

Included ClinVar conditions (315):
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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 likely risk allele uncertain risk allele other not provided total
8248 7417 21051 25998 4061 12 2 125 140 2 374 61399

Gene and significance breakdown #

Total genes and gene combinations: 460
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association likely risk allele uncertain risk allele other not provided total
LYST 121 97 1446 1468 94 0 0 0 0 0 44 3127
GLDC 317 289 659 1094 65 0 0 0 0 0 4 2211
CPS1 153 191 394 1049 92 0 0 0 0 0 2 1740
ACADVL 312 393 599 687 32 0 0 0 0 0 2 1670
PAH 577 486 288 335 38 0 0 0 0 0 8 1370
SLC22A5 191 189 439 433 30 0 0 0 0 0 4 1113
CBS 157 201 302 530 52 0 0 0 0 0 6 1111
TH 82 129 359 542 40 0 0 0 0 0 4 1039
HCFC1 6 1 115 672 255 0 0 0 0 0 0 1035
CYP27A1 148 110 358 454 24 0 0 0 0 0 3 992
SLC6A8 102 65 194 504 123 0 0 0 0 0 10 957
MTR 58 31 199 574 66 0 0 0 0 0 0 915
CPT1A 82 96 216 503 33 0 0 0 0 0 25 889
HLCS 91 119 265 430 50 0 0 0 0 0 0 872
ETFDH 155 173 231 362 21 0 0 0 0 0 0 847
PFKM 48 84 167 524 41 0 0 0 0 0 1 825
ACADM 240 227 204 267 36 0 0 0 0 0 2 803
ASL 129 156 152 420 36 0 0 0 0 0 3 788
MTRR 76 30 159 481 50 0 0 0 0 0 1 779
PHGDH 79 28 256 430 24 0 0 0 0 0 0 769
MTHFR 140 58 166 413 38 0 0 0 0 0 3 752
ASS1 137 151 180 355 36 0 0 0 0 0 10 743
SLC25A13 130 97 131 409 26 0 0 0 0 0 15 732
DBT 100 95 224 311 55 0 0 0 0 0 0 726
MCCC1 121 103 237 305 26 0 0 0 0 0 1 723
DHTKD1 42 20 383 249 37 0 0 0 0 0 1 722
AP3B1 36 30 375 254 45 0 0 0 0 0 1 699
ABAT 23 26 314 292 70 0 0 0 0 0 1 694
BCKDHB 142 131 159 293 50 0 0 0 0 0 3 684
BCKDHA 112 123 153 361 37 0 0 0 0 0 1 683
GPHN 50 23 294 277 17 0 0 0 0 0 0 657
FAH 101 116 141 323 40 0 0 0 0 1 11 640
MOCS1 53 39 345 201 36 0 0 0 0 0 1 639
ABCC8 35 18 494 49 33 0 0 0 18 0 13 619
OTC 152 103 140 216 44 0 0 0 0 0 0 612
AMT 78 86 188 317 13 0 0 0 0 0 3 611
GCK 147 240 146 70 87 0 0 49 53 0 6 607
BTD 167 169 194 200 14 0 0 0 0 0 6 605
NAGS 53 51 110 364 20 0 0 0 0 0 1 562
DLD 57 79 129 298 38 0 0 0 0 0 0 552
ALDH5A1 72 61 232 179 37 0 0 0 0 0 3 547
OAT 85 78 174 240 23 0 0 0 0 0 0 540
HGD 238 80 72 176 22 0 0 0 0 0 11 516
ALDH18A1 35 22 307 155 25 0 0 0 0 0 3 512
GAREM2, HADHA 65 71 108 262 20 0 0 0 0 0 0 474
HMGCL 62 56 129 246 15 0 0 0 0 0 0 468
ETFA 40 55 123 262 20 0 0 0 0 0 0 467
ARG1, MED23 76 61 147 207 8 0 0 0 0 0 1 466
GATM 17 14 223 192 23 0 0 0 0 0 3 452
SUOX 64 22 199 181 13 0 0 0 0 0 7 451
PDHA1 77 45 78 204 67 0 0 0 0 0 0 444
MMACHC 95 75 112 190 10 0 0 0 0 0 3 430
GAMT 60 45 172 191 11 0 0 0 0 0 7 424
HADHA 55 61 81 246 14 0 0 0 0 0 0 423
HNF1A 94 108 124 92 78 0 0 31 25 0 3 418
HNF1B 153 86 104 75 44 0 0 19 17 0 0 413
LMBRD1 28 22 110 235 24 0 0 0 0 0 2 407
SLC25A15 54 38 125 189 27 0 0 0 0 0 8 403
ACADS 44 79 208 105 24 0 0 1 0 0 4 391
GCH1 72 24 163 135 28 0 0 0 0 0 0 389
HNF4A 37 57 150 70 132 0 0 14 22 0 2 357
TAT 28 37 71 221 8 0 0 0 0 0 0 346
OPLAH 17 9 142 125 54 0 0 0 0 0 0 332
GSS 32 13 75 198 8 0 0 0 0 0 0 314
HPS1 35 76 136 47 46 0 0 0 0 0 4 311
LIAS 20 8 151 124 11 0 0 0 0 0 4 308
PSAT1 30 8 150 117 16 0 0 0 0 0 0 308
MMADHC 42 30 62 169 17 0 0 0 0 0 7 306
HPD 31 9 58 195 25 0 0 0 0 0 0 297
PRODH 22 6 115 125 47 0 0 0 0 0 0 292
PDHB 24 19 58 182 21 0 0 0 0 0 0 281
ENO3 6 2 141 125 22 0 0 0 0 0 1 280
ABCD4 18 10 116 112 33 0 0 0 0 0 0 279
RAB27A 45 18 127 71 27 0 0 0 0 0 0 277
MAT1A 27 12 163 74 20 0 0 0 0 0 0 276
ETFB 20 27 83 147 9 0 0 0 0 0 0 271
SLC25A20 50 33 90 107 7 0 0 0 0 0 0 271
QDPR 27 17 82 130 19 0 0 0 0 0 0 265
HADH 15 13 80 148 11 0 0 0 0 0 0 255
OCA2 64 90 101 18 23 0 0 0 0 0 2 248
AHCY 8 4 115 112 17 0 0 0 0 0 0 238
ALDH4A1 6 8 133 75 46 0 0 0 0 0 0 236
SLC6A9 5 3 89 117 16 0 0 0 0 0 3 229
KCNJ11 19 19 179 22 28 0 0 1 0 0 24 228
ALDOA, LOC112694756 4 4 109 105 11 0 0 0 0 0 1 220
HMGCS2 30 24 102 67 13 0 0 0 0 0 0 215
HPS4 16 45 121 18 23 0 0 0 0 0 1 210
HPS3 19 99 65 13 20 0 0 0 0 0 1 206
IBA57 26 12 86 69 9 0 0 0 0 0 0 198
TYR 91 79 42 7 5 0 0 0 0 1 4 178
ACAD9 26 73 61 23 19 0 0 0 0 0 0 177
DLAT 11 6 62 82 15 0 0 0 0 0 0 170
GLUL 3 1 103 41 22 0 0 0 0 0 0 168
ATP6V0A2 10 2 98 10 42 0 0 0 0 0 8 167
BLOC1S6 18 10 62 75 7 0 0 0 0 0 1 166
PSPH 3 1 86 48 20 0 0 0 0 0 0 154
CA5A 13 5 66 59 13 0 0 0 0 0 4 150
LDHA 5 2 86 54 13 0 0 0 0 0 0 150
ALDH5A1, GPLD1, LOC129995978 18 2 68 56 3 0 0 0 0 0 0 146
HIBCH 20 21 57 44 16 0 0 0 0 0 0 144
GAMT, LOC130062945 25 18 59 49 1 0 0 0 0 0 1 139
HPS5 21 8 81 12 19 0 0 0 0 0 0 136
GLUD1 11 5 74 42 14 0 0 0 0 0 0 134
PKLR 25 26 69 4 4 0 0 0 0 0 0 122
HAL 0 0 92 12 11 4 0 0 0 0 0 119
KLF11 2 0 68 20 24 0 0 0 0 0 0 111
ALDH6A1, BBOF1 7 0 58 15 29 0 0 0 0 0 0 106
CP, HPS3 12 31 45 12 15 0 0 0 0 0 0 106
BLK 4 0 50 25 30 0 0 0 0 0 0 104
PDHX 12 10 45 8 26 0 0 0 0 0 2 100
DBNL, PGAM2 7 1 56 35 4 0 0 0 0 0 1 93
NFU1 8 6 49 29 9 0 0 0 0 0 0 93
PPM1K 2 0 56 26 9 0 0 0 0 0 0 92
SLC45A2 25 17 48 2 3 0 0 0 0 0 3 92
HPS6 14 23 44 3 8 0 0 0 0 0 1 90
BCKDK 6 2 32 43 6 0 0 0 0 0 0 89
BAAT 0 0 54 11 22 0 0 0 0 0 0 87
NEUROD1 2 0 61 13 10 0 0 0 0 0 0 84
ACADVL, LOC130060113 11 11 25 42 4 0 0 0 0 0 0 79
LOC126861615, PAH 34 27 22 13 1 0 0 0 0 0 1 78
GPI 20 11 39 8 6 0 0 0 0 0 0 77
LOC111413029, TAT 3 10 10 54 0 0 0 0 0 0 0 76
AMT, NICN1 15 10 37 23 2 0 0 0 0 0 0 75
PAX4 2 0 40 26 8 0 0 0 0 0 0 73
TPI1 8 3 41 10 12 0 0 0 0 0 0 69
MOCS2 13 8 38 5 8 0 0 0 0 0 0 67
PGK1 16 3 36 12 2 0 0 0 0 0 0 66
LOC129936949, PDHB 0 2 12 52 1 0 0 0 0 0 0 65
GCH1, LOC130055692 11 1 25 22 7 0 0 0 0 0 0 64
PDX1 2 10 24 30 7 0 0 0 0 0 1 64
LOC126806063, LYST 5 4 23 33 1 0 0 0 0 0 1 62
LOC129992304, QDPR 6 7 18 30 4 0 0 0 0 0 0 62
LURAP1L, TYRP1 5 7 37 6 9 0 0 0 0 0 0 60
ACADVL, DLG4 4 7 31 15 4 0 0 0 0 0 0 58
CPT1A, LOC126861244 8 8 14 29 2 0 0 0 0 0 1 58
LOC129930446, MMACHC 23 12 14 18 0 0 0 0 0 0 0 57
CTH 4 1 42 6 4 0 0 0 0 0 0 56
LOC121815974, OAT 10 9 8 31 1 0 0 0 0 0 0 55
HNF1B, LOC126862549 15 14 14 9 6 0 0 2 2 0 0 53
INS, INS-IGF2 12 6 24 6 2 0 0 8 2 0 24 52
SPR 12 7 30 0 2 0 0 0 0 0 0 51
ACAD9, CFAP92 6 20 17 6 6 0 0 0 0 0 0 49
GATM, LOC130056991 1 1 20 26 3 0 0 0 0 0 0 49
GCSH 9 1 21 11 6 0 0 0 0 0 0 47
CEL 3 6 24 13 5 0 0 0 0 0 0 45
C12orf43, HNF1A 3 2 24 7 25 0 0 0 1 0 1 43
TYRP1 3 5 30 1 4 0 0 0 0 0 0 42
ADK 2 3 23 5 8 0 0 0 0 0 0 40
HPD, LOC126861662 4 1 5 29 3 0 0 0 0 0 0 40
LOC126860980, MAT1A 0 1 27 5 6 0 0 0 0 0 0 39
ALDH5A1, LOC129995978 5 2 17 14 1 0 0 0 0 0 0 37
ARG1 7 7 12 12 3 0 0 0 0 0 0 37
FAH, LOC112272621 5 6 3 24 2 0 0 0 0 0 0 36
GSR 3 2 24 3 3 0 0 0 0 0 0 35
ITGA2, MOCS2 0 0 5 15 15 0 0 0 0 0 0 34
LDHB 0 0 24 2 4 4 0 0 0 0 0 34
DLAT, PIH1D2 1 1 16 13 3 0 0 0 0 0 0 32
GCSH, LOC130059495 1 1 19 9 4 0 0 0 0 0 0 32
HK1 8 8 8 1 7 0 0 0 0 0 1 32
PYCR1 16 8 5 1 2 0 0 0 0 0 1 32
MAP3K15, PDHA1 0 0 12 1 18 0 0 0 0 0 0 31
HCFC1, LOC130068842 0 0 4 14 12 0 0 0 0 0 0 30
TJP2 4 4 12 3 8 0 0 0 0 0 0 30
MYO5A 6 1 9 3 10 0 0 0 0 0 0 29
GPR143 18 8 3 1 1 0 0 0 0 0 0 28
LIAS, LOC112939935 0 0 22 5 0 0 0 0 0 0 0 27
SLC1A4 10 9 9 0 1 0 0 0 0 0 0 27
BOLA3 4 4 19 2 0 0 0 0 0 0 0 26
AASS 11 6 7 2 0 0 0 0 0 0 0 25
DAAM2, MOCS1 0 0 15 4 4 0 0 0 0 0 0 23
LOC129998833, SLC25A13 2 4 12 7 0 0 0 0 0 0 1 22
DHTKD1, LOC130003343 1 0 14 6 0 0 0 0 0 0 0 21
GCLC 2 0 19 0 0 0 0 0 0 0 0 21
MC1R 0 6 11 5 1 0 0 0 0 0 0 21
PMPCB 5 3 11 1 1 0 0 0 0 0 0 21
BLK, LOC126860302 0 0 13 4 3 0 0 0 0 0 0 20
GLUL, LOC129932057 0 0 15 1 4 0 0 0 0 0 0 20
GPHN, LOC126861970 0 1 8 11 0 0 0 0 0 0 0 20
LOC129934069, SPR 1 4 14 1 2 0 0 0 0 0 0 20
GLUL, LOC126805944 1 0 7 10 1 0 0 0 0 0 0 19
ABCC8, LOC110121471 1 0 8 7 4 0 0 0 0 0 0 18
HPS6, LOC130004578 5 5 9 1 1 0 0 0 0 0 0 18
LOC130005549, PDHX 3 2 6 2 6 0 0 0 0 0 0 18
DBNL, LOC129998343, PGAM2 3 2 11 4 1 0 0 0 0 0 0 17
DTNBP1 3 2 10 3 0 0 0 0 0 0 0 17
LOC129932886, MTR 1 1 2 13 0 0 0 0 0 0 0 17
MECR 8 0 6 0 3 0 0 0 0 0 2 17
ALDH4A1, LOC120893116 0 0 9 6 3 0 0 0 0 0 0 16
LIPT1, MITD1 6 5 4 0 2 0 0 0 0 0 1 16
LOC129934004, NFU1 1 0 8 6 2 0 0 0 0 0 0 16
AP3D1 1 1 11 2 0 0 0 0 0 0 0 15
DBNL, LOC129998342, PGAM2 1 0 6 7 3 0 0 0 0 0 0 15
GLUD1, SHLD2 0 0 9 6 0 0 0 0 0 0 0 15
BLOC1S3 6 0 6 1 1 0 0 0 0 0 0 14
LOC126806368, MMADHC 1 1 2 8 2 0 0 0 0 0 0 14
LOC129994569, MIR3936HG, SLC22A5 2 1 5 2 6 0 0 0 0 0 0 14
UROC1 4 0 3 4 3 0 0 0 0 0 0 14
GLUD1, LOC130004255, SHLD2 0 0 6 7 1 0 0 0 0 0 0 13
MLPH 5 2 4 1 2 0 0 0 0 0 0 13
​intergenic 7 3 2 0 0 0 0 0 0 0 0 12
HPS5, LOC126861152 0 0 8 0 4 0 0 0 0 0 0 12
ALDH4A1, LOC129929550 1 1 6 4 1 0 0 0 0 0 0 11
APIP, LOC130005547, PDHX 0 0 4 2 5 0 0 0 0 0 0 11
DBNL, LOC129998341, PGAM2 0 0 8 4 0 0 0 0 0 0 0 11
HADH, LOC129992931 0 0 7 0 4 0 0 0 0 0 0 11
LOC129938008, MCCC1 0 2 4 3 3 0 0 0 0 0 0 11
PCDH19 0 10 1 0 0 0 0 0 0 0 0 11
SLC10A1 4 2 6 1 0 0 0 0 0 0 0 11
ASL, LOC129998526 1 1 0 7 1 0 0 0 0 0 0 10
FLAD1 9 0 0 1 0 0 0 0 0 0 0 10
HCN3, PKLR 0 0 9 0 1 0 0 0 0 0 0 10
HMGCS2, LOC122094910 2 0 8 0 0 0 0 0 0 0 0 10
ISCA2 3 2 6 0 0 0 0 0 0 0 3 10
LOC129993881, MOCS2 2 3 6 0 0 0 0 0 0 0 0 10
PDP1 3 0 6 0 1 0 0 0 0 0 0 10
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 8 1 0 0 0 0 0 0 9
APPL1 2 0 1 3 4 0 0 0 0 0 0 9
ASS1, LOC130002809 0 0 7 1 1 0 0 0 0 0 0 9
ATP6V0A2, LOC130009117 0 1 6 1 1 0 0 0 0 0 0 9
DLD, LOC129999127 0 0 2 7 0 0 0 0 0 0 0 9
GSR, LOC130000170 0 1 4 1 4 0 0 0 0 0 0 9
KLF11, LOC128897170 0 0 8 0 1 0 0 0 0 0 0 9
LOC111982876, MAT1A 0 0 5 1 3 0 0 0 0 0 0 9
LOC130009616, SLC25A15 0 0 7 1 1 0 0 0 0 0 0 9
MYEF2, SLC24A5 7 1 0 0 0 0 1 0 0 0 0 9
ABAT, PMM2, TMEM186 1 0 6 0 0 0 0 0 0 0 1 8
BLK, LOC126860303 0 0 1 3 5 0 0 0 0 0 0 8
DCT 7 0 1 0 0 0 0 0 0 0 0 8
FDXR 8 0 0 0 0 0 0 0 0 0 0 8
GAMT, NDUFS7 1 0 0 3 4 0 0 0 0 0 1 8
GPX4 4 3 3 0 0 0 0 0 0 0 0 8
INS, INS-IGF2, TH 1 0 1 5 7 0 0 0 0 0 0 8
LDHD 7 3 0 0 0 0 0 0 0 0 0 8
LOC129932856, LYST 0 0 6 1 1 0 0 0 0 0 0 8
MPC1 2 4 2 0 0 0 0 0 0 0 0 8
SARDH 0 1 1 1 1 4 0 0 0 0 0 8
ABCC8, KCNJ11 0 0 5 7 4 0 0 0 0 0 1 7
ATP6V1A 2 2 2 1 0 0 0 0 0 0 0 7
BCAT2 7 0 0 0 0 0 0 0 0 0 0 7
GLS 4 1 2 0 0 0 0 0 0 0 0 7
HLCS, LOC130066639 0 0 1 0 6 0 0 0 0 0 0 7
HSERVPRODH, PRODH 2 0 2 3 0 0 0 0 0 0 0 7
ACAD9, LOC126806807 0 2 4 1 0 0 0 0 0 0 0 6
HADHA, HADHB 2 0 1 2 1 0 0 0 0 0 0 6
HPD, LOC130009013 0 0 6 0 0 0 0 0 0 0 0 6
MIR6505, PFKM 0 1 0 5 0 0 0 0 0 0 0 6
ACADL 0 0 5 0 0 0 0 0 0 0 0 5
ATP6V0A2, LOC126861666 0 1 3 0 1 0 0 0 0 0 1 5
GLUD1, LOC130004254 0 0 1 4 1 0 0 0 0 0 0 5
LRMDA 1 1 0 0 3 0 0 0 0 0 0 5
MMACHC, PRDX1 4 0 1 0 0 0 0 0 0 0 0 5
WDR83, WDR83OS 5 0 0 0 0 0 0 0 0 0 0 5
ACADM, LOC129930773 0 0 0 4 0 0 0 0 0 0 0 4
ACADVL, DVL2 2 4 0 0 0 0 0 0 0 0 0 4
ADK, LOC102723439 1 1 0 1 2 0 0 0 0 0 0 4
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 2 2 0 0 0 0 0 0 0 0 0 4
CNPY3-GNMT, GNMT 3 0 1 0 0 0 0 0 0 0 0 4
GALE, HMGCL 3 0 0 0 1 0 0 0 0 0 0 4
GLRX5 3 0 1 0 0 0 0 0 0 0 0 4
INS 1 1 2 1 0 0 0 0 0 0 3 4
INS, TH 0 0 1 4 3 0 0 0 0 0 0 4
LOC126806368, MMADHC, MMADHC-DT 0 0 3 1 0 0 0 0 0 0 0 4
LOC129999056, PMPCB 0 1 3 0 0 0 0 0 0 0 0 4
PTF1A 1 0 1 1 1 0 0 0 0 0 0 4
ASCL1, PAH 1 0 1 1 0 0 0 0 0 0 0 3
ASS1, LOC110121061 0 0 0 3 0 0 0 0 0 0 0 3
ECHDC1 0 3 0 0 0 0 0 0 0 0 0 3
EPHX1 0 0 3 0 0 0 0 0 0 0 0 3
FAH, LOC130057734 0 0 1 0 2 0 0 0 0 0 0 3
GCH1, LOC130055688 0 0 0 2 1 0 0 0 0 0 0 3
GGT1 1 0 1 0 1 0 0 0 0 0 0 3
GLDC, LOC113839554, LOC126860573, LOC130001537 3 0 0 0 0 0 0 0 0 0 0 3
GLDC, LOC130001539 0 0 2 1 0 0 0 0 0 0 0 3
HMGCS2, PHGDH 0 0 0 3 0 0 0 0 0 0 0 3
HPS4, LOC130067147 0 0 1 1 1 0 0 0 0 0 0 3
HPS5, LOC130005404 0 0 2 1 0 0 0 0 0 0 0 3
KYNU 1 1 0 0 1 0 0 0 0 0 0 3
LOC129998495, PSPH 0 0 3 0 0 0 0 0 0 0 0 3
NAGS, PYY 1 2 1 0 0 0 0 0 0 0 0 3
PTS 1 1 1 0 0 0 0 0 0 0 0 3
ALDH4A1, MIR4695 0 0 0 2 1 0 0 0 0 0 0 2
ALDH6A1 0 0 2 0 0 0 0 0 0 0 0 2
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 1 0 1 0 0 0 0 0 0 0 0 2
ANXA11, MAT1A, PLAC9, SFTPD, TMEM254 1 0 1 0 0 0 0 0 0 0 0 2
ARF1, C1orf35, GJC2, GUK1, IBA57, MRPL55, OBSCN, WNT3A 1 0 1 0 0 0 0 0 0 0 0 2
ARSA 0 0 0 0 2 0 0 0 0 0 0 2
ATP6V1E1 2 0 0 0 0 0 0 0 0 0 0 2
BCKDHB, ELOVL4, HMGN3, LCA5, LINC01621, PHIP, SH3BGRL2, TTK 2 0 0 0 0 0 0 0 0 0 0 2
BLOC1S5 2 0 0 0 0 0 0 0 0 0 0 2
BOLA3, TET3 0 0 2 0 0 0 0 0 0 0 0 2
CCT6A, CHCHD2, PHKG1, PSPH, SUMF2 0 0 2 0 0 0 0 0 0 0 0 2
CTH, LOC129930756 0 0 1 1 0 0 0 0 0 0 0 2
DGCR6, PRODH 1 0 1 0 0 0 0 0 0 0 0 2
GCH1, LOC130055686, LOC130055687, LOC130055688, LOC130055689, LOC130055690, LOC130055691, LOC130055692, MIR4308 1 0 1 0 0 0 0 0 0 0 0 2
GLDC, LOC130001538 1 0 1 0 0 0 0 0 0 0 0 2
HPS1, LOC130004494 0 0 1 1 0 0 0 0 0 0 0 2
ISCA1, LOC130001967 1 0 1 0 0 0 0 0 0 0 1 2
LOC110121427, LRMDA 1 0 0 1 0 0 0 0 0 0 0 2
LOC132090298, LOC132090299, OCA2 2 0 0 0 0 0 0 0 0 0 0 2
MLKL 1 0 0 1 0 0 0 0 0 0 0 2
OTC, RPGR 1 0 1 0 0 0 0 0 0 0 0 2
PGAM2 1 0 1 0 0 0 0 0 0 0 0 2
PI4KA 0 0 2 0 0 0 0 0 0 0 0 2
SLC24A5 0 1 0 0 0 0 1 0 0 0 0 2
TDO2 2 0 0 0 0 0 0 0 0 0 0 2
TSEN54 2 0 0 0 0 0 0 0 0 0 0 2
WDR45 0 0 1 1 0 0 0 0 0 0 0 2
ABAT, CARHSP1, GRIN2A, HAPSTR1, PMM2, TMEM186, USP7 0 0 1 0 0 0 0 0 0 0 0 1
ABAT, CARHSP1, PMM2, TMEM186, USP7 0 0 1 0 0 0 0 0 0 0 0 1
ABAT, LOC130058390, LOC130058391, LOC130058392, LOC130058393, PMM2, TMEM186 0 0 1 0 0 0 0 0 0 0 0 1
ABCA7, ARHGAP45, ARID3A, ATP5F1D, AZU1, CBARP, CFD, CIRBP, CNN2, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GAMT, GPX4, GRIN3B, HCN2, KISS1R, MED16, MIDN, MISP, NDUFS7, PALM, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, RNF126, SBNO2, STK11, TMEM259, WDR18 0 0 1 0 0 0 0 0 0 0 0 1
ABCB9, ACADS, ANAPC5, ARL6IP4, ATP6V0A2, B3GNT4, BCL7A, BICDL1, C12orf43, CABP1, CAMKK2, CCDC62, CDK2AP1, CFAP251, CIT, CLIP1, COQ5, COX6A1, DDX55, DENR, DIABLO, DYNLL1, EIF2B1, GATC, GCN1, GTF2H3, HCAR1, HCAR2, HCAR3, HIP1R, HNF1A, HPD, IL31, KDM2B, KMT5A, KNTC1, LRRC43, MLEC, MLXIP, MORN3, MPHOSPH9, MSI1, MTRFR, OASL, OGFOD2, ORAI1, P2RX4, P2RX7, PITPNM2, PLA2G1B, POP5, PSMD9, PXN, RAB35, RHOF, RILPL1, RILPL2, RNF10, RNF34, RPLP0, RSRC2, SBNO1, SETD1B, SIRT4, SNRNP35, SPPL3, SRSF9, TCTN2, TMED2, TMEM120B, TRIAP1, UNC119B, VPS33A, VPS37B, ZCCHC8 0 0 1 0 0 0 0 0 0 0 0 1
ABCC5, ABCF3, ALG3, AP2M1, B3GNT5, CAMK2N2, CLCN2, DVL3, ECE2, EIF2B5, EIF4G1, FAM131A, HTR3C, HTR3D, HTR3E, KLHL24, KLHL6, LAMP3, MAP6D1, MCCC1, MCF2L2, MIR1224, PARL, POLR2H, PSMD2, THPO, VWA5B2, YEATS2 1 0 0 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, SLC6A8, SRPK3, SSR4, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 0 0 0 0 0 1
ABCD1, BCAP31, IDH3G, L1CAM, PDZD4, PLXNB3, SLC6A8, SRPK3, SSR4 0 0 1 0 0 0 0 0 0 0 0 1
ABCD1, BCAP31, SLC6A8 0 0 1 0 0 0 0 0 0 0 0 1
ABCG1, ADARB1, AGPAT3, AIRE, C21orf58, C2CD2, CBS, CFAP410, COL18A1, COL6A1, COL6A2, CRYAA, CSTB, DNMT3L, FTCD, GATD3, HSF2BP, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00163, LINC00315, LINC00334, LRRC3, LSS, MCM3AP, NDUFV3, PCBP3, PCNT, PDE9A, PDXK, PFKL, PKNOX1, POFUT2, PRDM15, PTTG1IP, PWP2, RIPK4, RRP1, RRP1B, RSPH1, SIK1, SLC19A1, SLC37A1, SLX9, SPATC1L, SUMO3, TFF1, TFF2, TFF3, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, U2AF1, UBASH3A, UBE2G2, UMODL1, WDR4, YBEY, ZBTB21 1 0 0 0 0 0 0 0 0 0 0 1
ABHD17C, ARNT2, CEMIP, FAH, MESD, ZFAND6 0 0 1 0 0 0 0 0 0 0 0 1
ABHD6, ACOX2, APPL1, ARF4, ASB14, DENND6A, DNAH12, DNASE1L3, FLNB, HESX1, IL17RD, KCTD6, PDE12, PDHB, PXK, RPP14, SLMAP 0 0 1 0 0 0 0 0 0 0 0 1
ABL1, ASS1, EXOSC2, FUBP3, PRDM12 0 0 1 0 0 0 0 0 0 0 0 1
ABTB1, ACAD11, ACAD9, ACKR4, ACP3, ADCY5, ALDH1L1, ALG1L2, ARGFX, ASTE1, ATP2C1, BFSP2, C3orf22, CASR, CCDC14, CD86, CDV3, CFAP100, CFAP92, CHCHD6, CHST13, CNBP, COL6A5, COL6A6, COPG1, CPNE4, CSTA, DNAJB8, DNAJC13, DTX3L, EAF2, EEFSEC, EFCAB12, EFCC1, FAM162A, FBXO40, GATA2, GOLGB1, GP9, GTF2E1, H1-10, H1-8, HACD2, HCLS1, HEG1, HGD, HMCES, HSPBAP1, IFT122, ILDR1, IQCB1, ISY1, ISY1-RAB43, ITGB5, KALRN, KBTBD12, KLF15, KPNA1, LINC01565, MBD4, MCM2, MGLL, MIX23, MRPL3, MUC13, MYLK, NEK11, NPHP3, NUDT16, OSBPL11, PARP14, PARP15, PARP9, PDIA5, PIK3R4, PLXNA1, PLXND1, PODXL2, POLQ, PRR23E, RAB43, RAB7A, RABL3, RHO, ROPN1, ROPN1B, RPN1, RUVBL1, SEC22A, SEC61A1, SEMA5B, SLC12A8, SLC15A2, SLC41A3, SLC49A4, SNX4, STXBP5L, TF, TMCC1, TMEM108, TOPBP1, TPRA1, TRH, TXNRD3, TXNRD3NB, UBA5, UMPS, UROC1, WDR5B, ZNF148, ZXDC 1 0 0 0 0 0 0 0 0 0 0 1
ACADM, ASB17, LOC101927342, LOC129930768, LOC129930769, LOC129930770, LOC129930771, LOC129930772, LOC129930773, LOC129930774, LOC129930775, LOC129930776, LOC129930777, LOC129930778, LOC129930779, LOC129930780, MSH4, RABGGTB, SLC44A5, SNORD45A, SNORD45B, SNORD45C, ST6GALNAC3 1 0 0 0 0 0 0 0 0 0 0 1
ACADM, LOC129930772 0 0 1 0 0 0 0 0 0 0 0 1
ACADS, HNF1A, SPPL3 1 0 0 0 0 0 0 0 0 0 0 1
ACADVL, ACAP1, AIPL1, ALOX12, ASGR1, ASGR2, ATP1B2, BACC1, BCL6B, C17orf100, CD68, CHRNB1, CLDN7, CLEC10A, CTDNEP1, DLG4, DVL2, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, KCTD11, KIAA0753, MED31, MIR195, MIR497HG, MPDU1, NEURL4, NLGN2, PHF23, PIMREG, PITPNM3, PLSCR3, POLR2A, RNASEK, SAT2, SENP3, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TEKT1, TMEM102, TMEM256, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TXNDC17, WRAP53, XAF1, YBX2, ZBTB4 0 0 1 0 0 0 0 0 0 0 0 1
ACADVL, ACAP1, ALOX12B, ALOX15B, ALOXE3, ATP1B2, AURKB, BORCS6, CD68, CHD3, CHRNB1, CLDN7, CNTROB, CTC1, CTDNEP1, CYB5D1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FGF11, FXR2, GABARAP, GPS2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, MPDU1, NAA38, NEURL4, NLGN2, PER1, PFAS, PHF23, PLSCR3, POLR2A, RANGRF, SAT2, SENP3, SHBG, SLC25A35, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TMEM102, TMEM107, TMEM256, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, VAMP2, WRAP53, YBX2, ZBTB4 1 0 0 0 0 0 0 0 0 0 0 1
ACADVL, ACAP1, CHRNB1, CLDN7, CTDNEP1, DLG4, DVL2, EIF5A, ELP5, FGF11, GABARAP, GPS2, KCTD11, NEURL4, NLGN2, PHF23, PLSCR3, SLC2A4, SPEM1, SPEM2, TMEM102, TMEM256, TMEM95, TNK1, YBX2 1 0 0 0 0 0 0 0 0 0 0 1
ACADVL, ALOX12, ASGR1, ASGR2, BACC1, BCL6B, CLEC10A, DLG4, FBXO39, MIR195, MIR497HG, RNASEK, SLC13A5, SLC16A11, SLC16A13, TEKT1, XAF1 1 0 0 0 0 0 0 0 0 0 0 1
ACOX3, BOD1L1, BST1, C1QTNF7, CC2D2A, CD38, CLNK, CPEB2, CPEB2-DT, CPZ, DEFB131A, DRD5, FAM200B, FAM90A26, FBXL5, FGFBP1, FGFBP2, GPR78, HMX1, HS3ST1, LDB2, LINC00504, LINC01085, LINC01096, LINC01097, LINC01182, LINC02270, LINC02360, LINC02493, LOC101928532, LOC107986178, LOC110120633, LOC110120784, LOC111828517, LOC112939924, LOC112997536, LOC114827818, LOC116158485, LOC121048739, LOC121048740, LOC121725169, LOC123466231, LOC123466232, LOC123466233, LOC123466234, LOC123466235, LOC123477707, LOC123477708, LOC123477709, LOC123477710, LOC126806970, LOC126806971, LOC126806972, LOC126806973, LOC126806974, LOC126806975, LOC126806976, LOC126806977, LOC126806978, LOC126806979, LOC126806980, LOC126806981, LOC126806982, LOC126806983, LOC126806984, LOC126806985, LOC126806986, LOC126806987, LOC126806988, LOC126806989, LOC126806990, LOC126806991, LOC126806992, LOC126806993, LOC129992221, LOC129992222, LOC129992223, LOC129992224, LOC129992225, LOC129992226, LOC129992227, LOC129992228, LOC129992229, LOC129992230, LOC129992231, LOC129992232, LOC129992233, LOC129992234, LOC129992235, LOC129992236, LOC129992237, LOC129992238, LOC129992239, LOC129992240, LOC129992241, LOC129992242, LOC129992243, LOC129992244, LOC129992245, LOC129992246, LOC129992247, LOC129992248, LOC129992249, LOC129992250, LOC129992251, LOC129992252, LOC129992253, LOC129992254, LOC129992255, LOC129992256, LOC129992257, LOC129992258, LOC129992259, LOC129992260, LOC129992261, LOC129992262, LOC129992263, LOC129992264, LOC129992265, LOC129992266, LOC129992267, LOC129992268, LOC129992269, LOC129992270, LOC129992271, LOC129992272, LOC129992273, LOC129992274, LOC129992275, LOC129992276, LOC129992277, LOC129992278, LOC129992279, LOC129992280, LOC129992281, LOC129992282, LOC129992283, LOC129992284, LOC129992285, LOC129992286, LOC129992287, LOC129992288, LOC129992289, LOC129992290, LOC129992291, LOC129992292, LOC129992293, LOC129992294, LOC129992295, LOC129992296, LOC129992297, LOC129992298, LOC129992299, LOC129992300, LOC129992301, LOC129992302, LOC129992303, LOC132089075, MIR12113, MIR3138, MIR5091, MIR548I2, MIR572, NKX3-2, PROM1, QDPR, RAB28, SLC2A9, SNORA75B, TAPT1, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, WDR1, ZNF518B 1 0 0 0 0 0 0 0 0 0 0 1
ACSL6, CDC42SE2, CSF2, FNIP1, HINT1, IL3, LYRM7, P4HA2, PDLIM4, RAPGEF6, SLC22A4, SLC22A5 1 0 0 0 0 0 0 0 0 0 0 1
ACSS2, ACTL10, AHCY, ASIP, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf144, C20orf173, CBFA2T2, CDK5RAP1, CEP250, CHMP4B, CPNE1, DNMT3B, DYNLRB1, E2F1, EDEM2, EFCAB8, EIF2S2, EIF6, ERGIC3, FAM83C, GDF5, GGT7, GSS, ITCH, MAP1LC3A, MAPRE1, MIR499A, MMP24, MYH7B, NCOA6, NECAB3, NFS1, PIGU, PROCR, PXMP4, RALY, RBM12, SNTA1, SPAG4, SUN5, TP53INP2, TRPC4AP, UQCC1, ZNF341 1 0 0 0 0 0 0 0 0 0 0 1
ACTL10, AHCY, ASIP, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf144, CBFA2T2, CDK5RAP1, CHMP4B, E2F1, EIF2S2, ITCH, NECAB3, PXMP4, RALY, SNTA1, SUN5, ZNF341 1 0 0 0 0 0 0 0 0 0 0 1
ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B 0 0 1 0 0 0 0 0 0 0 0 1
ACTN2, ARID4B, B3GALNT2, EDARADD, ERO1B, GGPS1, GNG4, GPR137B, HEATR1, LGALS8, LYST, NID1, RBM34, TBCE, TOMM20 1 0 0 0 0 0 0 0 0 0 0 1
ADAM30, HMGCS2, NOTCH2, PHGDH, REG4 0 0 1 0 0 0 0 0 0 0 0 1
ADAMTSL5, APC2, ATP5F1D, C19orf25, CBARP, CIRBP, DAZAP1, EFNA2, FAM174C, GAMT, MBD3, MEX3D, MIDN, NDUFS7, PCSK4, PLK5, PWWP3A, REEP6, RPS15, STK11, TCF3, UQCR11 1 0 0 0 0 0 0 0 0 0 0 1
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 1 0 0 0 0 0 0 0 0 0 0 1
ADGRG2, CDKL5, PDHA1, PHKA2, PPEF1, RS1 1 0 0 0 0 0 0 0 0 0 0 1
AFG2B, B2M, BLOC1S6, C15orf48, DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, PATL2, SHF, SLC28A2, SLC30A4, SORD, SPG11, TERB2, TRIM69 0 0 1 0 0 0 0 0 0 0 0 1
AFG2B, BLOC1S6, C15orf48, GATM, SLC30A4 0 0 1 0 0 0 0 0 0 0 0 1
AGGF1, AP3B1, ARSB, CRHBP, F2RL1, LHFPL2, OTP, PDE8B, S100Z, SCAMP1, TBCA, WDR41, ZBED3 1 0 0 0 0 0 0 0 0 0 0 1
AGL, CDC14A, DBT, DPH5, EXTL2, GPR88, LRRC39, MFSD14A, RTCA, S1PR1, SASS6, SLC30A7, SLC35A3, TRMT13, VCAM1 0 0 1 0 0 0 0 0 0 0 0 1
AIFM1, RAB33A 0 0 1 0 0 0 0 0 0 0 0 1
AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALPL, ASAP3, C1QA, C1QB, C1QC, CAMK2N1, CAPZB, CDA, CDC42, CELA3A, CELA3B, CNR2, DDOST, E2F2, ECE1, EIF4G3, ELOA, EMC1, EPHA8, EPHB2, FAM43B, FUCA1, GALE, GRHL3, HMGCL, HNRNPR, HP1BP3, HSPG2, HTR1D, HTR6, ID3, IFFO2, IFNLR1, IL22RA1, KDM1A, KIF17, LACTBL1, LDLRAD2, LUZP1, LYPLA2, MDS2, MICOS10, MICOS10-NBL1, MRTO4, MUL1, MYOM3, NBL1, NBPF3, OTUD3, PINK1, PITHD1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PNRC2, RAP1GAP, RNF186, RPL11, SH2D5, SLC66A1, SRSF10, STPG1, TCEA3, TEX46, TMCO4, UBR4, UBXN10, USP48, VWA5B1, WNT4, ZBTB40, ZNF436 0 0 1 0 0 0 0 0 0 0 0 1
AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALPL, C1QA, C1QB, C1QC, CAMK2N1, CAPZB, CDA, CDC42, CELA3A, CELA3B, DDOST, ECE1, EIF4G3, EMC1, EPHA8, FAM43B, HP1BP3, HSPG2, HTR6, IFFO2, KIF17, LDLRAD2, MICOS10, MICOS10-NBL1, MRTO4, MUL1, NBL1, NBPF3, OTUD3, PINK1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, RAP1GAP, RNF186, SH2D5, SLC66A1, TMCO4, UBR4, UBXN10, USP48, VWA5B1, WNT4, ZBTB40 0 0 1 0 0 0 0 0 0 0 0 1
ALDH18A1, ENTPD1, TCTN3 1 0 0 0 0 0 0 0 0 0 0 1
ALDH18A1, LOC121815958 1 0 0 0 0 0 0 0 0 0 0 1
ALDH5A1, DCDC2, GPLD1, KAAG1, MRS2 0 0 1 0 0 0 0 0 0 0 0 1
ALDH5A1, LOC129995983 1 1 0 0 0 0 0 0 0 0 0 1
ALDOA, C16orf54, CDIPT, KIF22, MAZ, MVP, PAGR1, PRRT2, QPRT, SPN, ZG16 0 1 0 0 0 0 0 0 0 0 0 1
ALDOA, LOC112694756, LOC130058806, LOC130058807 0 0 1 0 0 0 0 0 0 0 0 1
ALG9, BCO2, BTG4, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, IL18, LAYN, MIR34B, MIR34BHG, MIR34C, NKAPD1, PIH1D2, POU2AF1, POU2AF3, PPP2R1B, PTS, SDHD, SIK2, TEX12, TIMM8B 0 0 1 0 0 0 0 0 0 0 0 1
AMT, ARIH2, ARIH2OS, C3orf62, CCDC71, CIMIP7, DAG1, DALRD3, GPX1, IHO1, IMPDH2, KLHDC8B, LAMB2, MIR191, NDUFAF3, NICN1, P4HTM, QARS1, QRICH1, RHOA, SLC25A20, TCTA, USP19, USP4, WDR6 1 0 0 0 0 0 0 0 0 0 0 1
AMT, GPX1, NICN1, RHOA, TCTA 0 0 1 0 0 0 0 0 0 0 0 1
AP2A2, BRSK2, CD151, CDHR5, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, IFITM10, IGF2, INS, INS-IGF2, IRF7, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, PIDD1, PNPLA2, POLR2L, RPLP2, SCT, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TSPAN4 0 0 1 0 0 0 0 0 0 0 0 1
APBB2, CHRNA9, FAM114A1, KLB, KLHL5, LIAS, LIMCH1, N4BP2, NSUN7, PDS5A, PHOX2B, RBM47, RFC1, RHOH, RPL9, SMIM14, TLR1, TLR10, TLR6, TMEM156, UBE2K, UCHL1, UGDH, WDR19 0 0 1 0 0 0 0 0 0 0 0 1
APPL1, ASB14 0 0 0 1 0 0 0 0 0 0 0 1
ARG1, CTAGE9, ENPP1, ENPP3, MED23, OR2A4 0 0 1 0 0 0 0 0 0 0 0 1
ARIH2, ARIH2OS, CCDC71, DALRD3, IMPDH2, KLHDC8B, LAMB2, MIR191, NDUFAF3, P4HTM, QARS1, QRICH1, SLC25A20, USP19, WDR6 1 0 0 0 0 0 0 0 0 0 0 1
ARMC5, BCKDK, BCL7C, CFAP119, COX6A2, CTF1, FBRS, FBXL19, FUS, HSD3B7, ITGAD, ITGAM, ITGAX, KAT8, ORAI3, PHKG2, PRR14, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, RNF40, RUSF1, SETD1A, SLC5A2, SRCAP, STX1B, STX4, TGFB1I1, TRIM72, VKORC1, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF764, ZNF785, ZNF843 0 0 1 0 0 0 0 0 0 0 0 1
ASCL2, BRSK2, C11orf21, CD81, CDKN1C, CTSD, DUSP8, H19, IFITM10, IGF2, INS, INS-IGF2, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MOB2, MRPL23, MUC5B, SYT8, TH, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSSC4 0 0 1 0 0 0 0 0 0 0 0 1
ASL, CRCP, KCTD7, RABGEF1, SBDS, TMEM248, TPST1 0 1 0 0 0 0 0 0 0 0 0 1
ASL, GUSB 1 0 0 0 0 0 0 0 0 0 0 1
ASL, LOC129998525 0 0 1 0 0 0 0 0 0 0 0 1
ATG14, BMP4, CDKN3, CGRRF1, CNIH1, DLGAP5, FBXO34, GCH1, GMFB, KTN1, LGALS3, LINC00520, LOC109433677, LOC110121362, LOC111413016, LOC112268483, LOC112268484, LOC112268485, LOC125024484, LOC125024485, LOC125024486, LOC125024487, LOC125024488, LOC125024489, LOC125024490, LOC126861945, LOC126861946, LOC126861947, LOC126861948, LOC126861949, LOC126861950, LOC126861951, LOC126861952, LOC130055670, LOC130055671, LOC130055672, LOC130055673, LOC130055674, LOC130055675, LOC130055676, LOC130055677, LOC130055678, LOC130055679, LOC130055680, LOC130055681, LOC130055682, LOC130055683, LOC130055684, LOC130055685, LOC130055686, LOC130055687, LOC130055688, LOC130055689, LOC130055690, LOC130055691, LOC130055692, LOC130055693, LOC130055694, LOC130055695, LOC130055696, LOC130055697, LOC130055698, LOC130055699, LOC130055700, LOC130055701, LOC130055702, LOC130055703, LOC130055704, LOC130055705, LOC130055706, LOC130055707, LOC130055708, LOC130055709, LOC130055710, LOC130055711, LOC130055712, LOC130055713, LOC130055714, LOC130055715, LOC130055716, LOC130055717, MAPK1IP1L, MIR4308, PELI2, SAMD4A, SOCS4, TBPL2, WDHD1 1 0 0 0 0 0 0 0 0 0 0 1
ATP2B3, BGN, CCNQ, DUSP9, PNCK, SLC6A8 0 0 1 0 0 0 0 0 0 0 0 1
ATP5ME, PDE6B 1 0 0 0 0 0 0 0 0 0 0 1
ATP6AP2, BCOR, CFAP47, CXorf38, CYBB, DMD, DYNLT3, FAM47A, FAM47B, FAM47C, FTHL17, GK, H2AP, LANCL3, MAGEB16, MED14, MID1IP1, MPC1L, NR0B1, OTC, PRRG1, RPGR, SRPX, SYTL5, TAB3, TASL, TMEM47, TSPAN7, USP9X, XK 1 0 0 0 0 0 0 0 0 0 0 1
ATP6V0A2, LOC130009117, TCTN2 0 0 0 0 1 0 0 0 0 0 0 1
B3GALNT2, GNG4, LYST 0 0 1 0 0 0 0 0 0 0 0 1
B3GALNT2, GNG4, LYST, TBCE 1 0 0 0 0 0 0 0 0 0 0 1
B3GNT8, BCKDHA 1 0 0 0 0 0 0 0 0 0 0 1
BANP, CA5A, JPH3, KLHDC4, SLC7A5, ZNF469 1 0 0 0 0 0 0 0 0 0 0 1
BCAP31, SLC6A8 0 0 1 0 0 0 0 0 0 0 0 1
BLK, FAM167A 1 0 0 0 0 0 0 0 0 0 0 1
BMP4, CDKN3, CGRRF1, CNIH1, GCH1, GMFB, SAMD4A 1 0 0 0 0 0 0 0 0 0 0 1
BTD, COLQ, HACL1 1 0 0 0 0 0 0 0 0 0 0 1
C1orf167, MTHFR 0 0 1 0 0 0 0 0 0 0 0 1
CA5A, JPH3, KLHDC4, SLC7A5 0 0 1 0 0 0 0 0 0 0 0 1
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 0 0 0 0 0 0 1
CCPG1, DNAAF4, PIERCE2, PIGB, RAB27A 0 0 1 0 0 0 0 0 0 0 0 1
CD33, CLDND2, ETFB, IGLON5, LIM2, NKG7, SIGLECL1, VSIG10L 1 0 0 0 0 0 0 0 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 0 0 0 0 0 1
CEP78, GNA14, GNAQ, PSAT1, VPS13A 1 0 0 0 0 0 0 0 0 0 0 1
CHAF1B, CLDN14, HLCS, MORC3, SIM2 1 0 0 0 0 0 0 0 0 0 0 1
COL19A1, COL9A1, LMBRD1 1 0 0 0 0 0 0 0 0 0 0 1
COL1A1 0 1 0 0 0 0 0 0 0 0 0 1
CYBB, DYNLT3, H2AP, OTC, RPGR, SRPX, SYTL5 0 0 1 0 0 0 0 0 0 0 0 1
CYBB, DYNLT3, H2AP, OTC, RPGR, SRPX, SYTL5, XK 1 0 0 0 0 0 0 0 0 0 0 1
CYP27A1, PRKAG3, WNT6 1 0 0 0 0 0 0 0 0 0 0 1
CYP2U1, HADH, SGMS2 0 0 1 0 0 0 0 0 0 0 0 1
DBT, LOC129931021 0 0 1 0 0 0 0 0 0 0 0 1
DCDC2C 0 0 1 0 0 0 0 0 0 0 0 1
DGCR5, DGCR6, HSERVPRODH, LOC122455341, PRODH 1 0 0 0 0 0 0 0 0 0 0 1
DGCR6, HSERVPRODH, PRODH 1 0 0 0 0 0 0 0 0 0 0 1
DHTKD1, LOC130003342, LOC130003343, LOC130003344, LOC130003345 0 0 1 0 0 0 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 0 0 0 0 0 1
DLD, SLC26A3 1 0 0 0 0 0 0 0 0 0 0 1
DOCK6 0 1 0 0 0 0 0 0 0 0 0 1
DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, LOC121847946, LOC129390694, LOC130056979, LOC130056980, LOC130056981, LOC130056982, LOC130056983, LOC130056984, LOC130056985, LOC130056986, LOC130056987, LOC130056988, LOC130056989, LOC130056990, LOC130056991, SHF, SLC28A2, SORD, TERB2, TRH-GTG1-7, TRH-GTG1-8, TRH-GTG1-9 0 0 1 0 0 0 0 0 0 0 0 1
DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, SHF, SLC28A2, SORD, TERB2 0 0 1 0 0 0 0 0 0 0 0 1
EDEM2, MMP24-AS1-EDEM2 0 0 1 0 0 0 0 0 0 0 0 1
EFHC2 0 0 1 0 0 0 0 0 0 0 0 1
FDXR, LOC112533667 1 0 0 0 0 0 0 0 0 0 0 1
FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 0 0 0 0 0 1
FUCA1, HMGCL 1 0 0 0 0 0 0 0 0 0 0 1
GALE, HMGCL, LOC129929682 0 0 0 1 0 0 0 0 0 0 0 1
GATA4 0 0 1 0 0 0 0 0 0 0 0 1
GCDH 0 1 0 0 0 0 0 0 0 0 0 1
GLDC, KDM4C, LINC02851, LOC111413010, LOC130001538, LOC130001539, LOC130001540, LOC130001541, LOC130001542, LOC130001543, LOC130001544, LOC130001545 0 0 1 0 0 0 0 0 0 0 0 1
GLDC, LOC113839554, LOC126860573, LOC130001537, LOC130001538 1 0 0 0 0 0 0 0 0 0 0 1
GLDC, LOC113839554, LOC130001537, LOC130001538 0 0 1 0 0 0 0 0 0 0 0 1
GLDC, LOC130001537 1 0 0 0 0 0 0 0 0 0 0 1
GPHN, LOC129390637, LOC130055881, LOC130055882, LOC130055883, LOC130055884, LOC130055885, LOC130055886, LOC130055887, LOC130055888, LOC132090246, LOC132090247, LOC132090248, LOC132090249, LOC132090250 1 0 0 0 0 0 0 0 0 0 0 1
GTF2H1, HPS5, LDHA 0 0 1 0 0 0 0 0 0 0 0 1
HAO2, HSD3B1, HSD3B2, PHGDH, TBX15, WARS2, ZNF697 1 0 0 0 0 0 0 0 0 0 0 1
HGD, LOC126806786 0 1 0 0 0 0 0 0 0 0 0 1
HNF4A, R3HDML 0 0 0 0 1 0 0 0 0 0 0 1
HPS1, MIR4685 1 1 0 0 0 0 0 0 0 0 1 1
ISCA1 1 1 1 0 0 0 0 0 0 0 1 1
KLB, LIAS, RPL9 0 0 1 0 0 0 0 0 0 0 0 1
LIAS, LOC112939935, LOC129992453 0 0 1 0 0 0 0 0 0 0 0 1
LIAS, RPL9 0 0 1 0 0 0 0 0 0 0 0 1
LIAS, RPL9, UGDH 0 0 1 0 0 0 0 0 0 0 0 1
LINC02245, SLC1A4 0 1 0 0 0 0 0 0 0 0 0 1
LMNA 0 0 0 1 0 0 0 0 0 0 0 1
LOC122152347, LOC129932886, MTR 1 0 0 0 0 0 0 0 0 0 0 1
LOC126806801, UROC1 0 0 0 0 1 0 0 0 0 0 0 1
LOC126859690, PKHD1 0 1 0 0 0 0 0 0 0 0 0 1
LOC126863256, WDR45 1 0 0 0 0 0 0 0 0 0 0 1
LOC127407129, RFX6 0 1 0 0 0 0 0 0 0 0 0 1
LOC129936948, PDHB 0 0 1 0 0 0 0 0 0 0 0 1
LOC129993631, MTRR 0 0 0 0 1 0 0 0 0 0 0 1
LOC129994570, LOC129994571, LOC129994572, SLC22A5 1 0 0 0 0 0 0 0 0 0 0 1
LOC130000734, PDP1 0 0 0 0 1 0 0 0 0 0 0 1
LOC130005548, PDHX 0 0 0 1 0 0 0 0 0 0 0 1
LOC130061991, PYCR1 0 0 1 0 0 0 0 0 0 0 0 1
LOC132090299, OCA2 1 0 0 0 0 0 0 0 0 0 0 1
MADD 1 0 0 0 0 0 0 0 0 0 0 1
MIR3936HG, SLC22A5 0 0 0 0 1 0 0 0 0 0 0 1
MIR6811, MLPH 0 0 0 0 1 0 0 0 0 0 0 1
MIR6846, OPLAH 0 0 0 1 0 0 0 0 0 0 0 1
MITF 0 0 1 0 0 0 0 0 0 0 0 1
NKX1-2, OAT 1 0 0 0 0 0 0 0 0 0 0 1
NR2E3 1 0 0 0 0 0 0 0 0 0 0 1
P4HA2, PDLIM4, SLC22A4, SLC22A5 1 0 0 0 0 0 0 0 0 0 0 1
PARK7 0 0 0 1 0 0 0 0 0 0 0 1
PAX2 0 0 1 0 0 0 0 0 0 0 0 1
PIGB, RAB27A 1 0 0 0 0 0 0 0 0 0 0 1
POMGNT1, TSPAN1 0 0 1 0 0 0 0 0 0 0 0 1
PRDX1 0 0 0 0 1 0 0 0 0 0 0 1
PRKAG2 0 0 0 0 1 0 0 0 0 0 0 1
RIMS1 1 0 0 0 0 0 0 0 0 0 0 1
RNF167 0 0 0 0 1 0 0 0 0 0 0 1
SCNN1B 0 0 1 0 0 0 0 0 0 0 0 1
THAP1 1 0 0 0 0 0 0 0 0 0 0 1
UCP2 0 0 0 1 0 0 0 0 0 0 0 1
ZDHHC15 0 0 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 379
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association likely risk allele uncertain risk allele other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 5432 1686 12611 24275 2229 0 0 0 0 1 0 46233
Illumina Laboratory Services, Illumina 105 44 4824 801 1473 0 0 0 0 0 0 7170
Baylor Genetics 1304 2015 269 1 0 0 0 0 0 0 0 3587
Natera, Inc. 538 150 1636 552 416 0 0 0 0 0 0 3292
Fulgent Genetics, Fulgent Genetics 375 221 888 420 60 0 0 0 0 0 0 1964
Counsyl 160 979 717 81 7 0 0 0 0 0 0 1944
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 56 112 708 127 325 0 0 125 140 0 0 1593
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 840 582 24 25 4 0 0 0 0 0 6 1481
Genome-Nilou Lab 235 175 333 135 549 0 0 0 0 0 0 1427
OMIM 1264 0 5 0 4 12 2 0 0 0 0 1287
Revvity Omics, Revvity 286 224 634 2 0 0 0 0 0 0 0 1146
ClinGen PAH Variant Curation Expert Panel 308 247 185 4 17 0 0 0 0 0 0 761
Myriad Genetics, Inc. 69 525 30 0 0 0 0 0 0 0 0 624
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 88 36 133 65 192 0 0 0 0 0 0 514
Ambry Genetics 70 49 91 156 32 0 0 0 0 0 0 398
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 113 22 200 2 15 0 0 0 0 0 0 352
GeneReviews 69 0 0 0 4 0 0 0 0 0 276 349
Mendelics 123 64 30 27 40 0 0 0 0 0 0 284
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 94 83 93 2 3 0 0 0 0 0 0 273
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 69 70 80 16 29 0 0 0 0 0 0 264
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 143 40 68 3 0 0 0 0 0 0 0 254
3billion 101 60 66 23 0 0 0 0 0 0 0 250
Neuberg Centre For Genomic Medicine, NCGM 58 67 119 0 0 0 0 0 0 0 0 243
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 38 118 46 9 14 0 0 0 0 0 0 225
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 135 57 22 4 0 0 0 0 0 0 0 218
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 205 3 0 0 4 0 0 0 0 0 0 212
Juno Genomics, Hangzhou Juno Genomics, Inc 106 50 41 0 0 0 0 0 0 0 0 197
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 39 32 95 2 12 0 0 0 0 0 0 180
Elsea Laboratory, Baylor College of Medicine 78 55 32 6 0 0 0 0 0 0 0 171
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 92 61 1 0 0 0 0 0 0 0 0 154
Giacomini Lab, University of California, San Francisco 5 9 109 27 0 0 0 0 0 0 0 150
Genetic Services Laboratory, University of Chicago 88 44 0 0 0 0 0 0 0 0 0 132
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 128 0 0 0 0 0 0 0 0 0 129
Genomic Research Center, Shahid Beheshti University of Medical Sciences 48 24 36 1 1 0 0 0 0 0 0 110
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 77 30 2 0 0 0 0 0 0 0 0 109
Centre for Mendelian Genomics, University Medical Centre Ljubljana 36 26 46 0 0 0 0 0 0 0 0 108
Institute of Human Genetics, University of Leipzig Medical Center 53 25 27 3 0 0 0 0 0 0 0 108
New York Genome Center 17 13 77 0 0 0 0 0 0 0 0 107
Pars Genome Lab 0 1 7 14 83 0 0 0 0 0 0 105
MGZ Medical Genetics Center 31 43 26 0 0 0 0 0 0 0 0 100
Geisinger Clinic, Geisinger Health System 73 24 0 0 0 0 0 0 0 0 0 97
Genetics and Molecular Pathology, SA Pathology 29 25 23 1 0 0 0 0 0 0 0 78
All of Us Research Program, National Institutes of Health 1 1 40 28 1 0 0 0 0 0 0 71
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 39 23 0 0 0 0 0 0 0 0 0 62
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 2 0 19 37 0 0 0 0 0 0 62
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 6 5 41 9 0 0 0 0 0 0 0 61
Inserm U 954, Faculté de Médecine de Nancy 0 44 0 4 0 0 0 0 0 0 7 55
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 4 3 1 28 16 0 0 0 0 0 0 52
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 22 15 15 0 0 0 0 0 0 0 0 52
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 19 22 10 0 0 0 0 0 0 0 0 51
University Children's Hospital, University of Zurich 48 0 0 0 0 0 0 0 0 0 0 48
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 18 23 8 0 0 0 0 0 0 0 0 48
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 27 20 1 0 0 0 0 0 0 0 0 48
Centogene AG - the Rare Disease Company 20 13 14 0 0 0 0 0 0 0 0 47
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 25 20 0 0 0 0 0 0 0 0 0 45
Genome Diagnostics Laboratory, University Medical Center Utrecht 13 0 1 17 12 0 0 0 0 0 0 43
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 0 43 43
Laboratoire de Génétique Moléculaire, CHU Bordeaux 17 23 1 0 0 0 0 0 0 0 0 41
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 27 6 8 0 0 0 0 0 0 0 0 41
SingHealth Duke-NUS Institute of Precision Medicine 9 12 14 3 1 0 0 0 0 0 0 39
University of Washington Center for Mendelian Genomics, University of Washington 0 38 0 0 0 0 0 0 0 0 0 38
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 6 8 23 0 1 0 0 0 0 0 0 38
Molecular Genetics, Royal Melbourne Hospital 10 10 9 1 7 0 0 0 0 0 0 37
MVZ Medizinische Genetik Mainz 5 14 18 0 0 0 0 0 0 0 0 37
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital 3 26 7 0 0 0 0 0 0 0 0 36
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 25 9 0 0 0 0 0 0 0 0 0 34
Laboratory of Metabolic Disorders, Peking University First Hospital 7 8 19 0 0 0 0 0 0 0 0 34
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 13 11 9 0 0 0 0 0 0 0 0 33
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 10 22 1 0 0 0 0 0 0 0 0 33
NIHR Bioresource Rare Diseases, University of Cambridge 11 19 3 0 0 0 0 0 0 0 0 32
National Newborn Screening Laboratory, Hospital Nacional de Niños 12 18 1 0 0 0 0 0 0 0 0 31
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 26 1 2 0 0 0 0 0 0 0 0 29
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 6 5 18 0 0 0 0 0 0 0 0 29
Johns Hopkins Genomics, Johns Hopkins University 9 6 5 4 4 0 0 0 0 0 0 28
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 14 5 8 0 0 0 0 0 0 0 0 27
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 19 4 4 0 0 0 0 0 0 0 0 27
DASA 21 6 0 0 0 0 0 0 0 0 0 27
Knight Diagnostic Laboratories, Oregon Health and Sciences University 15 7 4 0 0 0 0 0 0 0 0 26
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 13 11 0 0 0 0 0 0 0 0 26
Suma Genomics 10 9 6 0 0 0 0 0 0 0 0 25
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 9 11 4 0 0 0 0 0 0 0 0 24
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 16 8 0 0 0 0 0 0 0 0 0 24
Molecular Genetics laboratory, Necker Hospital 24 0 0 0 0 0 0 0 0 0 0 24
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 12 7 2 1 0 0 0 0 0 0 0 22
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 10 7 5 0 0 0 0 0 0 0 0 22
Center for Molecular Medicine, Children’s Hospital of Fudan University 14 7 0 0 0 0 0 0 0 0 0 21
SIB Swiss Institute of Bioinformatics 0 12 5 1 3 0 0 0 0 0 0 21
Center of Medical Genetics, Central South University 8 12 1 0 0 0 0 0 0 0 0 21
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 16 5 0 0 0 0 0 0 0 0 0 21
Lifecell International Pvt. Ltd 7 14 0 0 0 0 0 0 0 0 0 21
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 2 7 10 0 1 0 0 0 0 0 0 20
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 0 20 20
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 0 0 19 19
Translational Genomics Laboratory, University of Maryland School of Medicine 10 7 0 0 0 0 0 0 0 0 0 17
Undiagnosed Diseases Network, NIH 6 0 11 0 0 0 0 0 0 0 0 17
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 6 3 0 0 0 0 0 0 0 0 17
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 11 4 2 0 0 0 0 0 0 0 0 17
Breakthrough Genomics, Breakthrough Genomics 7 9 1 0 0 0 0 0 0 0 0 17
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 4 5 4 2 1 0 0 0 0 0 0 16
Division of Human Genetics, Children's Hospital of Philadelphia 7 7 2 0 0 0 0 0 0 0 0 16
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 0 0 0 0 16 16
Institute of Immunology and Genetics Kaiserslautern 10 2 4 0 0 0 0 0 0 0 0 16
Molecular Biology Laboratory, Fundació Puigvert 8 6 0 0 0 0 0 0 0 0 0 14
Molecular Genetics, Madras Diabetes Research Foundation 3 4 6 1 0 0 0 0 0 0 0 14
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 6 4 3 0 0 0 0 0 0 0 0 13
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 9 3 0 0 0 0 0 0 0 0 13
Reproductive Health Research and Development, BGI Genomics 10 0 0 0 3 0 0 0 0 0 0 13
Clinical Genomics Laboratory, Stanford Medicine 4 1 8 0 0 0 0 0 0 0 0 13
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 4 9 0 0 0 0 0 0 0 0 0 13
Molecular Genetics Lab, CHRU Brest 8 5 0 0 0 0 0 0 0 0 0 13
Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University 8 3 0 1 0 0 0 0 0 0 0 12
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 4 7 0 0 0 0 0 0 12
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 7 5 0 0 0 0 0 0 0 0 0 12
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 6 2 2 0 0 0 0 0 0 12
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 5 4 3 0 0 0 0 0 0 0 0 12
Genomics England Pilot Project, Genomics England 5 7 0 0 0 0 0 0 0 0 0 12
ClinGen Monogenic Diabetes Variant Curation Expert Panel 5 7 0 0 0 0 0 0 0 0 0 12
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 12 0 0 0 0 0 0 0 0 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 2 0 9 0 0 0 0 0 0 0 0 11
SNPedia 11 0 0 0 0 0 0 0 0 0 0 11
Color Diagnostics, LLC DBA Color Health 1 1 0 3 6 0 0 0 0 0 0 11
Neurogenetics Research Program, University of Adelaide 0 10 1 0 0 0 0 0 0 0 0 11
Institute of Human Genetics, University Hospital Muenster 5 2 3 0 1 0 0 0 0 0 0 11
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 8 1 1 0 0 0 0 0 0 0 0 10
Caldovic Lab, Children's National Health System 0 10 0 0 0 0 0 0 0 0 0 10
Department of Endocrinology, Metabolism and Genetics, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University 5 5 0 0 0 0 0 0 0 0 0 10
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 7 0 0 0 0 0 0 0 0 10
Clinical Genomics Laboratory, Washington University in St. Louis 3 3 3 0 0 0 0 0 0 0 0 9
Hadassah Hebrew University Medical Center 5 4 0 0 0 0 0 0 0 0 0 9
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 6 0 0 0 0 0 0 0 0 9
Yale Center for Mendelian Genomics, Yale University 1 8 0 0 0 0 0 0 0 0 0 9
Child Health and Human Development Program, Research Institute of the McGill University Health Center 9 0 0 0 0 0 0 0 0 0 0 9
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 4 1 1 0 3 0 0 0 0 0 0 9
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 0 9 9
Solve-RD Consortium 0 9 0 0 0 0 0 0 0 0 0 9
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 1 2 5 1 0 0 0 0 0 0 0 9
Genomics And Bioinformatics Analysis Resource, Columbia University 5 4 0 0 0 0 0 0 0 0 0 9
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 6 2 1 0 0 0 0 0 0 0 0 9
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories 8 0 0 0 0 0 0 0 0 0 0 8
MVZ Dr. Eberhard & Partner Dortmund 0 1 7 0 0 0 0 0 0 0 0 8
Institut IMAGINE, Institut National de la Sante et de la Recherche Medicale 8 0 0 0 0 0 0 0 0 0 0 8
Center of Genomic medicine, Geneva, University Hospital of Geneva 7 1 0 0 0 0 0 0 0 0 0 8
Neurology Department, Peking University First Hospital 6 0 2 0 0 0 0 0 0 0 0 8
Ege University Pediatric Genetics, Ege University 2 1 5 0 0 0 0 0 0 0 0 8
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 8 0 0 0 0 0 0 0 0 0 0 8
Genomic Medicine Lab, University of California San Francisco 4 3 1 0 0 0 0 0 0 0 0 8
Institute of Human Genetics, University of Goettingen 1 2 4 0 0 0 0 0 0 0 0 7
UCLA Clinical Genomics Center, UCLA 2 5 0 0 0 0 0 0 0 0 0 7
Science and Research Branch, Islamic Azad University, Islamic Azad University 3 4 0 0 0 0 0 0 0 0 0 7
Institute of Human Genetics, University Hospital of Duesseldorf 2 4 1 0 0 0 0 0 0 0 0 7
NxGen MDx 0 6 1 0 0 0 0 0 0 0 0 7
Centre for Human Genetics, University of Kinshasa 7 0 0 0 0 0 0 0 0 0 0 7
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 3 3 1 0 0 0 0 0 0 0 0 7
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 2 4 0 0 0 0 0 0 0 0 0 6
Exeter Molecular Genetics Laboratory 4 2 0 0 0 0 0 0 0 0 0 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 1 3 0 0 0 0 0 0 0 0 6
Bonnen Lab, Baylor College of Medicine 6 0 0 0 0 0 0 0 0 0 0 6
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 3 3 0 0 0 0 0 0 0 0 6
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 1 3 0 0 0 0 0 0 0 0 6
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 6 0 0 0 0 0 0 0 0 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 0 0 0 0 0 6
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 4 2 0 0 0 0 0 0 0 0 0 6
Department of Human Genetics, Hannover Medical School 0 6 0 0 0 0 0 0 0 0 0 6
Laboratory Cellgenetics, GMDL Cellgenetics 2 4 0 0 0 0 0 0 0 0 0 6
Institute of Human Genetics, Cologne University 2 1 2 0 0 0 0 0 0 0 0 5
Blood Cell Research, Sanquin 5 0 0 0 0 0 0 0 0 0 0 5
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 1 2 0 0 0 0 0 0 0 0 5
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 3 0 0 0 0 0 0 0 0 0 5
Kids Research, The Children's Hospital at Westmead 3 2 0 0 0 0 0 0 0 0 0 5
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 5 0 0 0 0 0 0 0 0 0 0 5
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 4 0 0 0 0 0 0 0 0 5
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 2 3 0 0 0 0 0 0 0 0 0 5
Pediatric Department, Xiangya Hospital, Central South University 0 2 3 0 0 0 0 0 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 0 2 0 0 0 0 0 0 0 0 5
Molecular Genetics, University Hospital Bordeaux 3 2 0 0 0 0 0 0 0 0 0 5
Arcensus 1 4 0 0 0 0 0 0 0 0 0 5
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 3 2 0 0 0 0 0 0 0 0 0 5
Dr.Nikuei Genetic Center 3 1 0 1 0 0 0 0 0 0 0 5
Department of Genetics, Suzhou Beikang Medical Laboratory 0 5 0 0 0 0 0 0 0 0 0 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 1 0 0 0 0 0 0 0 0 0 4
Laboratorio de Genetica Humana; Universidad de los Andes 0 2 0 0 0 0 0 0 0 0 2 4
CSER _CC_NCGL, University of Washington 0 0 2 2 0 0 0 0 0 0 0 4
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 4 0 0 0 0 0 0 0 0 0 4
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 2 1 0 0 0 0 0 0 0 0 4
Phosphorus, Inc. 0 0 0 0 4 0 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 1 0 1 0 0 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 0 0 0 0 0 0 0 0 0 4
Breda Genetics srl 0 0 4 0 0 0 0 0 0 0 0 4
Division of Biology and Genetics, University of Brescia 4 0 0 0 0 0 0 0 0 0 0 4
Biochemical Genetics Laboratory, National Taiwan University 1 3 0 0 0 0 0 0 0 0 0 4
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 2 0 0 0 0 0 0 0 0 0 4
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 3 1 0 0 0 0 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 1 0 0 0 0 0 0 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 2 0 0 0 0 0 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 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 3
Kangwon National University Hospital 1 2 0 0 0 0 0 0 0 0 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 2 1 0 0 0 0 0 0 0 0 0 3
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd. 0 1 2 0 0 0 0 0 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 3 0 0 0 0 0 0 0 0 0 3
Clinical Laboratory, Xuzhou Maternity and Child Health Care Hospital 2 1 0 0 0 0 0 0 0 0 0 3
Biochemistry Laboratory of CDMU, Chengde Medical University 3 0 0 0 0 0 0 0 0 0 0 3
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 2 0 0 1 0 0 0 0 0 0 0 3
Genomics Facility, Ludwig-Maximilians-Universität München 2 1 0 0 0 0 0 0 0 0 0 3
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 1 2 0 0 0 0 0 0 0 0 0 3
Beijing Obstetrics and Gynecology Hospital, Capital Medical University 1 2 0 0 0 0 0 0 0 0 0 3
DBGen Ocular Genomics 2 0 1 0 0 0 0 0 0 0 0 3
Department of Neurology, Second Xiangya Hospital of Central South University 1 2 0 0 0 0 0 0 0 0 0 3
Fatma Al Jasmi Lab, United Arab Emirates University 2 1 0 0 0 0 0 0 0 0 0 3
Medical Genetics Research Center, Mashhad University of Medical Sciences 1 2 0 0 0 0 0 0 0 0 0 3
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 2 1 0 0 0 0 0 0 0 0 3
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 3 0 0 0 0 0 0 0 0 3
Watson Genetic Lab 2 1 0 0 0 0 0 0 0 0 0 3
Institute of Monogenic Disease, School of Medicine, Huanghuai University 0 3 0 0 0 0 0 0 0 0 0 3
Shanghai Diabetes Institute, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine 3 0 0 0 0 0 0 0 0 0 0 3
Athena Diagnostics 0 0 0 0 2 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 1 0 0 0 0 0 0 0 0 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 2 0 0 0 0 0 0 0 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 2 0 0 0 0 0 0 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 2 0 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Ulm 1 1 0 0 0 0 0 0 0 0 0 2
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 2 0 0 0 0 0 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 2 0 0 0 0 0 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 1 0 0 0 0 0 0 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 1 0 0 0 0 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 0 0 0 0 0 0 0 0 2
Sidra Medicine 1 0 0 1 0 0 0 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 1 0 0 0 1 0 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 0 0 0 0 0 2
Heart Center, Academic Medical Center Amsterdam 1 0 0 0 1 0 0 0 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 1 0 0 0 0 0 0 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 2 0 0 0 0 0 0 0 0 0 0 2
TIDEX, University of British Columbia 0 0 2 0 0 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 1 0 0 0 0 0 0 0 0 0 2
Tianjin Pediatric Research Institute, Tianjin Children's Hospital 2 0 0 0 0 0 0 0 0 0 0 2
Unidade de Bioquimica Genetica, Centro Hospitalar do Porto 0 2 0 0 0 0 0 0 0 0 0 2
Genetic Medico-Diagnostic Laboratory Genica 1 1 0 0 0 0 0 0 0 0 0 2
Fan Lab, Zhengzhou University 0 2 0 0 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 1 1 0 0 0 0 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 2 0 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 0 0 0 0 0 2
deCODE genetics, Amgen 1 1 0 0 0 0 0 0 0 0 0 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 1 0 0 0 0 0 0 0 0 0 2
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 2 0 0 0 0 0 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 0 0 0 0 0 2
Human Genetics Section, Sidra Medicine 0 2 0 0 0 0 0 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 1 0 0 0 0 0 0 0 0 2
Section for Clinical Neurogenetics, University of Tübingen 1 1 0 0 0 0 0 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 1 1 0 0 0 0 0 0 0 0 0 2
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 1 0 0 0 0 0 0 0 0 0 2
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 1 0 0 0 0 0 0 0 0 0 2
Rare Disease Group, University of Exeter 0 2 0 0 0 0 0 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 2 0 0 0 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 0 0 0 0 0 2
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 0 2 0 0 0 0 0 0 0 0 0 2
Department of Pediatrics, The First Affiliated Hospital, Jinan University 2 0 0 0 0 0 0 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 1 0 1 0 0 0 0 0 0 0 0 2
UF de génétique clinique, APHP Hôpital Armand Trousseau 0 2 0 0 0 0 0 0 0 0 0 2
Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital 0 1 1 0 0 0 0 0 0 0 0 2
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 2 0 0 0 0 0 0 0 0 0 0 2
Department of Pediatrics, The University of Tokyo 1 1 0 0 0 0 0 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 2 0 0 0 0 0 0 0 0 2
Department of Neurology, Beijing Children's Hospital, Capital Medical University 0 2 0 0 0 0 0 0 0 0 0 2
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 1 1 0 0 0 0 0 0 0 0 0 2
Stone Lab, Washington University School of Medicine 2 0 0 0 0 0 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 0 0 0 0 0 2
Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine 1 1 0 0 0 0 0 0 0 0 0 2
Gansu Provincial Maternity and Child Care Hospital 0 2 0 0 0 0 0 0 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 2 0 0 0 0 0 0 0 0 0 0 2
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 1 0 0 0 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 2 0 0 0 0 0 0 0 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 1 1 0 0 0 0 0 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 1 1 0 0 0 0 0 0 0 0 0 2
Diabetes Institute, Department of Endocrinology and Metabolism, First Affiliated Hospital of Zhengzhou University 2 0 0 0 0 0 0 0 0 0 0 2
Royal Medical Services, Bahrain Defence Force Hospital 1 0 1 0 0 0 0 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 1 0 0 0 0 0 0 0 0 0 2
Molecular Diagnostic Laboratory, Diagnostic Services, Shared Health Manitoba 1 0 0 0 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 0 0 0 0 1
Center for Human Genetics Laboratory, University Hospitals - University Hospitals Laboratory Service Foundation 1 0 0 0 0 0 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 0 0 0 0 0 1
Genetics - Synnovis, NHS South East Genomic Laboratory Hub 0 0 1 0 0 0 0 0 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 1 0 0 0 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 0 0 0 0 1 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 0 0 0 0 0 1
Central Laboratory, The First Affiliated Hospital, Jinan University 0 0 0 0 0 0 0 0 0 0 1 1
Chehab Lab, University of California, San Francisco 1 0 0 0 0 0 0 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 0 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 0 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 1 0 0 0 0 0 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 0 0 0 1
Center for Medical Genomics, Jagiellonian University Medical College 1 0 0 0 0 0 0 0 0 0 0 1
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Laboratory of Applied Genomics, Kongju National University 1 0 0 0 0 0 0 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 0 0 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 1 0 0 0 0 0 0 0 0 1
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 1 0 0 0 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 0 0 0 0 0 1
Medical Genetics, Meyer Children Hospital 0 1 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 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 0 0 0 0 0 1
National Reference Laboratory of Biochemistry, Pasteur Institute of Iran 1 0 0 0 0 0 0 0 0 0 0 1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas 1 0 0 0 0 0 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 0 0 0 0 0 1
Medical Genetics Center, Academic Academic Center for Education, Culture and Research (ACECR), Khorasan Razavi 0 1 0 0 0 0 0 0 0 0 0 1
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center 0 1 0 0 0 0 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 1 0 0 0 0 0 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 0 0 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 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 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 1 0 0 0 0 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 0 0 0 0 0 1
Palladino Lab, Pittsburgh Institute for Neurodegenerative Disease 1 0 0 0 0 0 0 0 0 0 0 1
UOSD Diagnostica Molecolare E Genomica, Irccs Policlinico Agostino Gemelli 0 1 0 0 0 0 0 0 0 0 0 1
Medical Genomics Research Department, King Abdullah International Medical Research Center 0 0 1 0 0 0 0 0 0 0 0 1
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 0 1 0 0 0 0 0 0 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 0 1 0 0 0 0 0 0 0 0 0 1
Center for Computational Genomics and Data Science, University of Alabama 1 0 0 0 0 0 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 0 0 0 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 0 1 0 0 0 0 0 0 0 0 0 1
St George's Genomics Service, St George's University Hospitals NHS FT 1 0 0 0 0 0 0 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 0 1 0 0 0 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 0 0 0 0 0 1
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center 1 0 0 0 0 0 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 0 0 0 0 0 0 1
Alibakhshi Medical Genetics Laboratory, Kermanshah University of Medical Sciences 1 0 0 0 0 0 0 0 0 0 0 1
Department of Pediatrics, University of Modena and Reggio Emilia 1 0 0 0 0 0 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 0 0 0 0 0 1
Medical Genetics, Christian Medical College 0 1 0 0 0 0 0 0 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 1 0 0 0 0 0 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 0 1 0 0 0 0 0 0 0 0 0 1
Paris Brain Institute, Inserm - ICM 1 0 0 0 0 0 0 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 0 0 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 0 0 0 0 0 1
Genetic Disease Research Branch / Genetics Development and Disease Section, National Human Genome Research Institute 1 0 0 0 0 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 0 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 1 0 0 0 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 0 0 0 0 0 1
Kuwait Medical Genetics Centre, Kuwait Ministry of Health 0 1 0 0 0 0 0 0 0 0 0 1
Department Neonatology, Affiliated Hospital of Zunyi Medical University 0 1 0 0 0 0 0 0 0 0 0 1
Kazan State Medical University, Kazan State Medical University 0 1 0 0 0 0 0 0 0 0 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 0 1 0 0 0 0 0 0 0 0 1
clinical biochemical genetics laboratory, stanford university 0 0 1 0 0 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Mashhad University of Medical Sciences 0 0 1 0 0 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 0 0 0 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 1 0 0 0 0 0 0 0 0 0 0 1
Department of Medical Genetics and Prenatal Diagnosis, Taizhou People's Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Noor Gene 1 0 0 0 0 0 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 0 0 0 0 0 0 0 0 0 1
King Fahd Medical Research Center, King Abdulaziz University 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 0 0 0 0 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 1 0 0 0 0 0 0 0 0 0 1
Markle Lab, Division of Molecular Pathogenesis, Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 0 0 0 1
Department of Laboratory Medicine, Seoul National University Bundang Hospital 0 1 0 0 0 0 0 0 0 0 0 1
Newborn Screening Center, Zibo Maternal and Child Health Care Hospital 0 1 0 0 0 0 0 0 0 0 0 1
Institute of Biotechnology and Microbiology, Bacha Khan University, Charsadda 1 0 0 0 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 0 0 0 0 0 1
Child Neurology, Ann And Robert H. Lurie Children's Hospital 0 0 1 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 1
Laboratory of Basic Medicine, Dongfang Hospital of Xiamen University 0 1 0 0 0 0 0 0 0 0 0 1
Laboratoire de Génome Humain et Maladies Multifactorielles, Monastir Universite 1 0 0 0 0 0 0 0 0 0 0 1
Lab of Neurogenetics and Mitochondrial Disorders, Fondazione IRCCS Istituto Neurologico Besta 0 1 0 0 0 0 0 0 0 0 0 1

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