ClinVar Miner

Variants studied for congenital disorder of glycosylation

Included ClinVar conditions (194):
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Gene type:
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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 not provided total
2398 1613 12190 10916 1634 3 73 27396

Gene and significance breakdown #

Total genes and gene combinations: 320
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
PIGN 117 61 366 479 47 0 0 1053
POMGNT1, TSPAN1 94 102 304 512 18 0 2 980
POMT1 120 90 337 433 61 0 0 972
POMT2 77 68 374 444 45 0 3 968
ALG13 7 6 356 527 94 0 1 947
GNE 125 129 355 379 18 1 12 901
PIGG 66 16 417 354 38 0 1 875
PIGO 58 17 481 297 21 0 1 844
ALG6 86 86 225 351 28 0 0 722
PMM2 142 180 211 245 27 0 13 687
COG5 53 16 347 263 40 0 0 679
ALG1 66 59 170 326 32 0 2 613
DAG1 9 7 330 185 15 0 2 541
MPI 63 84 93 275 20 0 1 482
ALG12 26 14 218 214 32 0 0 470
GFPT1 30 13 235 153 49 0 0 466
SEC23B 46 22 88 291 33 0 0 455
DHDDS 20 19 171 248 5 0 0 451
RFT1 8 8 257 166 29 0 0 448
MOGS 20 9 240 158 15 0 0 434
PGM3 46 8 129 234 10 0 1 420
DOLK 8 0 286 128 9 0 0 413
COG7 7 4 198 195 28 0 2 402
POMGNT2 23 4 229 135 13 0 0 399
CRPPA 49 13 151 122 22 0 0 352
ST3GAL5 33 9 160 151 11 0 0 352
ATP6V0A2 17 5 126 154 36 0 0 338
KCTD7 24 22 171 98 20 2 0 315
NUS1 25 8 146 126 9 0 0 312
ALG2 6 6 166 108 12 0 1 292
FKRP 44 89 155 22 11 0 1 288
GMPPB 32 18 124 111 6 0 0 281
SLC35C1 8 4 158 100 18 0 0 275
MYO19, PIGW 7 3 170 83 7 0 1 266
PGM1 25 7 113 122 21 0 1 262
SLC35A2 30 14 74 93 47 0 1 257
SLC35A3 39 6 46 163 7 0 0 255
PIGA 13 17 126 64 33 0 0 242
DSE 2 0 118 101 14 0 0 234
COG1 5 3 138 87 15 0 0 228
POMGNT1 19 24 97 91 5 0 0 225
ALG9 10 3 133 58 23 0 0 224
FKTN 22 43 136 20 16 0 0 223
POMK 20 1 118 77 8 0 1 222
PIGT 18 8 95 86 12 0 0 210
B3GAT3 16 8 91 84 6 0 0 202
COG6 15 6 115 58 26 0 1 202
B3GLCT 9 7 96 53 45 0 3 200
DPAGT1 12 23 101 71 6 0 0 194
LFNG 5 2 68 101 11 0 1 187
ALG8 23 13 95 55 18 0 0 181
DDOST 4 1 89 54 19 0 2 167
SRD5A3 10 7 101 38 18 0 0 167
ALG3 23 14 79 53 8 0 0 158
COG4 11 5 66 50 20 0 0 149
CHST14 20 2 66 52 5 0 3 142
CHSY1 2 1 59 36 28 0 0 124
SLC35D1 8 3 44 58 11 0 0 123
TUSC3 0 0 94 13 12 0 0 119
RPN2 0 0 54 51 12 0 0 117
COG2 5 1 42 55 11 0 0 113
COG8 4 2 66 32 10 0 0 103
ADNP, DPM1 10 6 51 38 3 0 0 101
MGAT2 9 3 75 14 7 0 0 99
MESP2 4 6 58 19 17 0 1 96
DPM2 7 2 42 43 6 0 0 95
ALG14 6 1 56 29 4 0 0 91
TMEM165 5 0 42 34 9 0 0 86
DLL3 8 3 46 16 9 0 0 75
MPDU1 5 6 48 16 8 0 1 75
PIGM 1 1 49 10 9 0 0 70
STT3B 1 0 25 33 11 0 1 69
DOP1A, PGM3 6 2 26 32 4 0 0 68
KCTD7, LOC129998533 2 0 40 24 2 0 1 68
LOC126862987, SEC23B 12 2 8 42 7 0 0 68
PIGV 7 3 50 4 7 0 0 68
LOC129934236, ST3GAL5 6 1 30 28 3 0 0 67
ALG1, EEF2KMT 7 3 26 27 4 0 0 65
DPAGT1, LOC126861360 7 5 31 27 0 0 0 65
POFUT1 5 0 18 20 21 0 0 64
SLC37A4 7 8 40 9 0 0 0 62
DPM1 5 1 29 27 2 0 0 61
DPM1, LOC130066166 3 1 36 24 1 0 0 59
SLC35A1 5 3 20 25 6 0 0 56
ALG1, LOC130058384 4 5 14 29 2 0 0 51
ALG11, UTP14C 4 5 30 8 6 0 0 51
DPM3 13 1 27 6 3 0 1 48
PIGL 4 4 36 2 5 0 0 48
ALG11 6 0 28 9 3 0 0 46
LOC129930668, PGM1 7 0 21 18 1 0 0 46
CAD 10 4 28 3 1 0 0 45
LOC129934128, MOGS 2 0 23 17 2 0 0 44
COG1, LOC126862634 4 0 19 19 1 0 0 42
PIGQ 6 4 9 3 18 0 1 39
PGAP3 26 12 7 0 2 0 0 38
CHST14, LOC130056851 4 0 20 13 0 0 0 36
CRPPA, LOC129998005 6 0 19 7 3 0 0 35
ALG1, LOC130058383 1 1 12 19 1 0 0 33
CHSY1, LOC130058068 4 0 11 12 5 0 0 32
LOC129936883, RFT1 0 0 19 16 0 0 0 32
COG5, LOC129389837 2 2 17 9 1 0 0 30
GPAA1 12 10 15 0 0 0 0 30
LOC129992613, TMEM165 0 0 19 8 2 0 0 29
ALG14, LOC129930989 0 0 15 13 1 0 0 28
EXT2 11 6 10 3 1 0 0 28
DDOST, PINK1 0 0 10 11 7 0 0 27
COG1, LOC130061576 1 0 15 10 2 0 0 26
COG1, VCF1 0 0 18 8 1 0 0 26
ATP6V0A2, LOC130009117 1 1 5 17 1 0 0 25
COG7, LOC130058658 1 1 11 13 0 0 0 25
B4GALT1 3 0 15 4 2 0 0 23
PGAP2 9 6 8 0 0 0 0 23
STT3A 8 5 12 1 3 0 0 23
COG5, DUS4L, DUS4L-BCAP29 1 1 14 4 2 0 0 22
LOC130056177, POMT2 0 0 13 6 3 0 0 22
ATP6V0A2, LOC126861666 2 0 5 10 2 0 0 19
COG8, LOC130059304 2 1 11 6 2 0 0 19
FCSK 3 7 11 0 1 0 0 19
LOC130057891, MESP2 4 6 6 3 1 0 2 19
PIGB 7 2 8 0 3 0 0 19
ALG9, LOC130006752 0 2 10 5 1 0 0 17
C1orf105, PIGC 4 4 10 0 2 0 0 17
DLL3, LOC130064417 1 3 7 3 4 0 0 17
GMPPB, LOC129936764 2 0 6 8 1 0 0 17
SSR4 11 3 5 0 0 0 0 17
EDEM3 10 1 4 0 1 0 0 16
LOC130056175, POMT2 4 5 8 4 0 0 0 16
PIGS 10 4 5 0 0 0 0 16
CRPPA, LOC129998004 3 0 8 4 0 0 0 15
POGLUT1 12 1 0 0 2 0 0 15
LOC132090498, PIGN 0 1 0 11 2 0 0 14
ALG11, LOC130009841 1 2 5 5 1 0 0 13
COG5, HBP1 0 0 11 2 0 0 0 13
LOC132090497, PIGN 1 1 5 7 0 0 0 13
PIGK 9 0 1 0 3 0 0 13
DPM2, LOC130002675 0 0 11 0 1 0 0 12
FUT8 4 2 4 0 2 0 0 12
GALNT2 5 3 4 1 0 0 1 12
COG1, LOC125316790 0 0 7 2 2 0 0 11
COG1, LOC130061577 0 0 7 4 0 0 0 10
LFNG, LOC129997823 0 0 6 3 1 0 0 10
SLC39A8 3 2 4 0 1 0 0 10
ABAT, PMM2, TMEM186 0 0 8 0 0 0 1 9
ATP6AP2 2 0 4 2 1 0 0 9
COG8, PDF 0 0 7 0 2 0 0 9
CRPPA, LOC129389757 1 0 4 4 0 0 0 9
LOC126807125, SLC39A8 1 2 7 0 0 0 0 9
MROH8, RPN2 0 0 1 8 0 0 0 9
PIGG, ZNF721 1 0 8 0 0 0 0 9
B3GLCT, LOC130009514 0 0 7 1 1 0 0 8
DPAGT1, HMBS 0 0 4 3 3 0 1 8
LOC130055539, MGAT2 0 0 8 0 0 0 0 8
RARS2, SLC35A1 0 0 1 3 4 0 0 7
DNAAF2, MGAT2 0 0 0 2 6 0 0 6
FAM219B, MPI 0 0 5 0 1 0 0 6
HES7 3 2 1 0 0 0 1 6
KRT5 3 1 1 1 0 0 0 6
LOC129930669, PGM1 0 0 3 3 0 0 0 6
MAGT1 2 0 2 2 0 0 0 6
LOC129934233, ST3GAL5 0 0 0 4 1 0 0 5
LOC129936407, STT3B 1 0 3 1 0 0 0 5
LOC129936408, STT3B 0 0 0 3 2 0 0 5
LOC130005625, SLC35C1 0 0 5 0 0 0 0 5
LOC130056176, POMT2 0 0 1 4 0 0 0 5
PIGP 2 2 3 0 0 0 0 5
RIPPLY2, RIPPLY2-CYB5R4 2 0 1 0 2 0 2 5
AGL, SLC35A3 3 0 1 0 0 0 0 4
ALG12, LOC130067776 0 0 2 1 1 0 0 4
CAD, LOC126806172 0 0 4 0 0 0 0 4
DOLK, NUP188 0 0 2 1 1 0 0 4
PIGY, PYURF 1 0 3 0 0 0 0 4
TMEM199 4 0 0 0 0 0 0 4
CCDC115 1 0 2 0 0 0 0 3
COG3 2 0 1 0 0 0 0 3
COG8, LOC130059305 0 0 1 2 0 0 0 3
COG8, LOC130059306 0 0 1 3 0 0 0 3
DLL3, LOC130064419 1 0 1 0 1 0 0 3
GPAA1, LOC130001364 0 1 2 0 0 0 0 3
LARGE1 0 0 3 0 0 0 0 3
LFNG, MIR4648 0 0 0 2 1 0 0 3
LOC126807125, LOC129992876, SLC39A8 3 0 0 0 0 0 0 3
LOC129930471, POMGNT1 1 0 2 0 0 0 0 3
LOC129936409, STT3B 0 0 1 2 0 0 0 3
LOC130001694, PIGO 0 0 2 1 0 0 0 3
MIR6812, PIGT 0 0 0 2 1 0 0 3
PIGN, RELCH, TNFRSF11A 1 0 2 0 0 0 0 3
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, PIGW, SYNRG, TADA2A 0 0 2 0 0 0 0 2
ABCG4, C2CD2L, CBL, DPAGT1, DRC12, HINFP, NHERF4, NLRX1 1 0 1 0 0 0 0 2
ACP2, AGBL2, AMBRA1, ARFGAP2, ARHGAP1, ATG13, C1QTNF4, CELF1, CHRM4, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, F2, FAM180B, FNBP4, FREY1, HARBI1, KBTBD4, LARGE2, LRP4, MADD, MAPK8IP1, MDK, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, PACSIN3, PEX16, PHF21A, PSMC3, PTPMT1, RAPSN, SLC35C1, SLC39A13, SPI1, ZNF408 1 0 1 0 0 0 0 2
ALG11, ATP7B 0 0 0 0 2 0 0 2
ALG13, DCX 0 0 2 0 0 0 0 2
ALG3, LOC129938049 0 0 2 1 0 0 0 2
ALG6, LOC129930665 0 0 2 0 0 0 0 2
ALG8, LOC130006492 0 0 0 1 1 0 0 2
ARHGEF39, ARID3C, ATOSB, CA9, CCDC107, CCL19, CCL21, CCL27, CD72, CIMIP2B, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FANCG, GALT, GBA2, IL11RA, MSMP, NPR2, PHF24, PIGO, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, SPATA31F1, SPATA31G1, STOML2, TESK1, TLN1, TPM2, UNC13B, VCP 1 0 1 0 0 0 0 2
BCL2, HMSD, KDSR, PHLPP1, PIGN, RELCH, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, TNFRSF11A, VPS4B, ZCCHC2 1 0 1 0 0 0 0 2
CAD, LOC126806171 0 0 2 0 0 0 0 2
CCPG1, DNAAF4-CCPG1, PIGB 1 0 1 0 0 0 0 2
CHST3 0 0 0 2 0 0 0 2
COG2, LOC129932756 0 0 0 2 0 0 0 2
COG5, DUS4L 2 0 0 0 0 0 0 2
CRPPA, LOC129389758 2 0 0 0 0 0 0 2
DLL3, LOC130064417, PLEKHG2 1 0 0 0 1 0 0 2
DLL3, LOC130064418 1 1 0 0 0 0 0 2
FKRP, LOC130064775, STRN4 1 0 1 0 0 0 0 2
GET4 2 0 0 0 0 0 0 2
GNE, LOC130001749 0 0 1 1 0 0 0 2
GPHN, PIGH 2 0 1 0 0 0 0 2
HGSNAT, POMK 0 0 2 0 0 0 0 2
IDH3G, PLXNB3, SRPK3, SSR4 2 0 0 0 0 0 0 2
KRT5, LOC126861526 0 1 0 0 1 0 0 2
LOC129992612, TMEM165 0 0 2 0 0 0 0 2
LOC129992876, SLC39A8 1 1 1 0 0 0 0 2
LOC130068460, MAGT1 0 0 1 1 0 0 0 2
AASDH, ARL9, CEP135, CLOCK, CRACD, EXOC1, HOPX, KDR, KIT, NMU, PAICS, PDCL2, PDGFRA, PPAT, REST, SPINK2, SPMAP2L, SRD5A3, SRP72, TMEM165 0 0 1 0 0 0 0 1
AASDH, CEP135, CLOCK, CRACD, EXOC1, KDR, KIT, NMU, PAICS, PDCL2, PDGFRA, PPAT, SRD5A3, SRP72, TMEM165 0 0 1 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 0 1 0 0 0 0 0 1
AATF, ACACA, DHRS11, GGNBP2, LHX1, MRM1, MYO19, PIGW 0 0 1 0 0 0 0 1
ABAT, LOC130058390, LOC130058391, LOC130058392, LOC130058393, PMM2, TMEM186 1 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 0 0 1 0 0 0 0 1
ABHD5, ACKR2, ANO10, CCDC13, CCK, CTNNB1, CYP8B1, GASK1A, HHATL, HIGD1A, KLHL40, KRBOX1, LYZL4, NKTR, POMGNT2, SEC22C, SNRK, SS18L2, TRAK1, ULK4, VIPR1, ZBTB47, ZNF662 0 0 1 0 0 0 0 1
ABL1, AIF1L, EXOSC2, FAM78A, FIBCD1, LAMC3, NUP214, PLPP7, POMT1, PRDM12, PRRC2B, QRFP 0 0 1 0 0 0 0 1
ACE2, AP1S2, ASB11, ASB9, BMX, CA5B, CLTRN, FANCB, INE2, MOSPD2, PIGA, PIR, VEGFD, ZRSR2 1 0 0 0 0 0 0 1
ACE2, AP1S2, BMX, CA5B, CLTRN, INE2, PIGA, PIR, VEGFD, ZRSR2 0 0 1 0 0 0 0 1
ACTG2, ALMS1, AUP1, BOLA3, C2orf78, C2orf81, CCDC142, CCT7, CYP26B1, DCTN1, DGUOK, DOK1, DQX1, DUSP11, EGR4, EMX1, EXOC6B, FBXO41, HTRA2, INO80B, LBX2, LOXL3, MOB1A, MOGS, MRPL53, MTHFD2, NAT8, NAT8B, NOTO, PCGF1, PRADC1, RAB11FIP5, RTKN, SFXN5, SLC4A5, SMYD5, SPR, STAMBP, TET3, TLX2, TPRKB, TTC31, WBP1, WDR54 1 0 0 0 0 0 0 1
ADM2, ALG12, ARSA, BRD1, CHKB, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 0 0 1 0 0 0 0 1
ADM2, ALG12, ARSA, CHKB, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP 1 0 0 0 0 0 0 1
ADNP, DPM1, LOC130066166 1 0 0 0 0 0 0 1
ADNP, DPM1, MOCS3 1 0 0 0 0 0 0 1
AGT, ARV1, C1orf131, C1orf198, CAPN9, COG2, FAM89A, GALNT2, GNPAT, PGBD5, TRIM67, TTC13 1 0 0 0 0 0 0 1
AK1, BBLN, CDK9, CFAP157, CIZ1, DPM2, EEIG1, ENG, FPGS, LCN2, LOC102723566, LOC106783495, LOC108281127, LOC113839508, LOC113839509, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC114827831, LOC116216099, LOC116216100, LOC124310649, LOC124310650, LOC124310651, LOC126860771, LOC129390114, LOC130002649, LOC130002650, LOC130002651, LOC130002652, LOC130002653, LOC130002654, LOC130002655, LOC130002656, LOC130002657, LOC130002658, LOC130002659, LOC130002660, LOC130002661, LOC130002662, LOC130002663, LOC130002664, LOC130002665, LOC130002666, LOC130002667, LOC130002668, LOC130002669, LOC130002670, LOC130002671, LOC130002672, LOC130002673, LOC130002674, LOC130002675, LOC130002676, LOC130002677, LOC130002678, LOC130002679, LOC130002680, LOC130002681, LOC130002682, LOC130002683, LOC130002684, LOC130002685, LOC130002686, LOC130002687, LOC130002688, LOC130002689, LOC130002690, LOC130002691, LOC130002692, LOC130002693, LOC130002694, LRSAM1, MIR2861, MIR3911, MIR3960, MIR4672, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6, STXBP1, TOR2A, TTC16 0 0 1 0 0 0 0 1
AK1, BBLN, CDK9, CFAP157, CIZ1, DPM2, EEIG1, ENG, FPGS, LCN2, LRSAM1, MIR2861, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16 1 0 0 0 0 0 0 1
AK4, ALG6, ANGPTL3, ATG4C, C1orf141, CACHD1, DNAI4, DNAJC6, DOCK7, DYNLT5, EFCAB7, FOXD3, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, MIER1, MIR101-1, NFIA, PATJ, PDE4B, PGM1, RAVER2, ROR1, SGIP1, SLC35D1, TM2D1, UBE2U, USP1 0 0 1 0 0 0 0 1
AKAP4, ARAF, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CDK16, CFP, CLCN5, DGKK, EBP, ELK1, ERAS, FOXP3, FTSJ1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, INE1, KCND1, LINC01560, MAGIX, MIR502, MIR532, NDUFB11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM10, RBM3, SHROOM4, SLC35A2, SLC38A5, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SUV39H1, SYN1, SYP, TBC1D25, TFE3, TIMM17B, TIMP1, UBA1, USP11, USP27X, UXT, WAS, WDR13, WDR45, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81 0 0 1 0 0 0 0 1
AKAP4, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CLCN5, DGKK, EBP, ERAS, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, KCND1, MAGIX, MIR502, MIR532, NUDT10, NUDT11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM3, SHROOM4, SLC35A2, SUV39H1, SYP, TBC1D25, TFE3, TIMM17B, USP27X, WAS, WDR13, WDR45 0 0 1 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 1
ALAS1, BAP1, DNAH1, GLT8D1, GLYCTK, GNL3, ITIH1, ITIH3, ITIH4, MIRLET7G, MUSTN1, NEK4, NISCH, NT5DC2, PBRM1, PHF7, POC1A, PPM1M, RFT1, SEMA3G, SFMBT1, SPCS1, STAB1, STIMATE, STIMATE-MUSTN1, TLR9, TNNC1, TWF2, UQCC5, WDR82 0 0 1 0 0 0 0 1
ALAS2 0 0 0 0 1 0 0 1
ALG11, ATP7B, LOC124900147, LOC130009838, LOC130009839, LOC130009840, LOC130009841, LOC130009842, UTP14C 0 0 1 0 0 0 0 1
ALG11, ATP7B, LOC130009841 0 0 1 0 0 0 0 1
ALG11, ATP7B, UTP14C 1 0 0 0 0 0 0 1
ALG11, LOC130009842 0 0 0 1 0 0 0 1
ALG13, CAPN6, CHRDL1, DCX, PAK3 0 0 1 0 0 0 0 1
ALG2, ANKS6, ANP32B, COL15A1, CORO2A, ERP44, FOXE1, GABBR2, GALNT12, HEMGN, INVS, NANS, NCBP1, NR4A3, SEC61B, STX17, TBC1D2, TDRD7, TGFBR1, TMOD1, TRIM14, TRMO, TSTD2, XPA 0 0 1 0 0 0 0 1
ALG3, EEF1AKMT4, EEF1AKMT4-ECE2, MIR1224, VWA5B2 0 1 0 0 0 0 0 1
ALG6, ATG4C, DOCK7, FOXD3 0 0 1 0 0 0 0 1
ALG9, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HSPB2 1 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 1
ANKMY2, BZW2, CRPPA, LOC129998004, LOC129998005, LOC129998006, LRRC72, SOSTDC1 1 0 0 0 0 0 0 1
AP4E1 1 0 0 0 0 0 0 1
ARHGEF39, ARID3C, ATOSB, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CIMIP2B, CLTA, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FAM221B, FANCG, GALT, GBA2, GLIPR2, GNE, HINT2, HRCT1, IL11RA, MSMP, NPR2, OR13J1, OR2S2, PHF24, PIGO, RECK, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, SPATA31F1, SPATA31G1, STOML2, TESK1, TLN1, TMEM8B, TPM2, UNC13B, VCP 1 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 1
ASF1A, CALHM4, CALHM5, CALHM6, CEP85L, COL10A1, DCBLD1, DSE, FAM162B, GOPC, GPRC6A, KPNA5, MCM9, NT5DC1, NUS1, PLN, RFX6, ROS1, RSPH4A, RWDD1, SLC35F1, TRAPPC3L, TSPYL1, TSPYL4, VGLL2, ZUP1 1 0 0 0 0 0 0 1
ATP5ME, CPLX1, DGKQ, FGFRL1, GAK, IDUA, MYL5, PCGF3, PDE6B, PIGG, SLC26A1, SLC49A3, TMEM175 1 0 0 0 0 0 0 1
ATP5ME, CPLX1, DGKQ, GAK, IDUA, MYL5, PCGF3, PDE6B, PIGG, SLC26A1, SLC49A3, TMEM175, ZNF721 1 0 0 0 0 0 0 1
ATP6V0A2, TCTN2 0 0 1 0 0 0 0 1
ATXN2, LOC130008791 0 0 1 0 0 0 0 1
B3GAT3, BSCL2, CSKMT, GANAB, INTS5, LBHD1, LRRN4CL, ROM1, UBXN1, UQCC3 0 0 1 0 0 0 0 1
B3GAT3, ROM1 0 0 0 0 1 0 0 1
B4GALT7 0 1 0 0 0 0 0 1
B4GAT1 0 1 0 0 0 0 0 1
BANF2, DZANK1, KAT14, MGME1, OVOL2, PET117, POLR3F, RBBP9, RRBP1, SEC23B, SNX5, ZNF133 1 0 0 0 0 0 0 1
BCAP29, COG5, DUS4L, SLC26A4 1 0 0 0 0 0 0 1
BLCAP, CTNNBL1, GHRH, MANBAL, MROH8, NNAT, RBL1, RPN2, SAMHD1, SRC 0 0 1 0 0 0 0 1
BRAT1, LFNG 0 0 1 0 0 0 0 1
CACNA1D 1 0 0 0 0 0 0 1
CACNA1F, CCDC120, CCDC22, CLCN5, EBP, ERAS, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, KCND1, MAGIX, MIR502, MIR532, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM3, SLC35A2, SUV39H1, SYP, TBC1D25, TFE3, TIMM17B, USP27X, WAS, WDR13, WDR45 0 0 1 0 0 0 0 1
CAMLG 1 0 0 0 0 0 0 1
CCDC115, LOC129934769 1 0 0 0 0 0 0 1
CCDC120, GRIPAP1, KCND1, OTUD5, PIM2, PQBP1, PRAF2, SLC35A2, TFE3, WDR45 0 0 1 0 0 0 0 1
CEP290 1 0 0 0 0 0 0 1
CLN3 0 0 1 0 0 0 0 1
COG4, FCSK, LOC125177345, LOC130059335, LOC130059336, LOC130059337, LOC130059338, LOC130059339, LOC130059340, ST3GAL2 1 0 0 0 0 0 0 1
COG5, DUS4L, DUS4L-BCAP29, LOC129999121 0 0 1 0 0 0 0 1
COG5, DUS4L, GPR22 1 0 0 0 0 0 0 1
COG5, GPR22 0 0 1 0 0 0 0 1
COG7, EARS2, GGA2, NDUFAB1, PALB2, SCNN1B, SCNN1G, UBFD1 0 0 1 0 0 0 0 1
COL11A2 0 0 1 0 0 0 0 1
CRY2, FREY1, MAPK8IP1, PEX16, SLC35C1 0 0 1 0 0 0 0 1
DCBLD1, GOPC, NUS1 0 0 1 0 0 0 0 1
DOP1A, ME1, PGM3, PRSS35, RWDD2A, SNAP91, TPBG, UBE3D 1 0 0 0 0 0 0 1
DSE, LOC129997034, TSPYL1 0 0 0 0 1 0 0 1
ERAS, GATA1, GLOD5, HDAC6, PCSK1N, PQBP1, SLC35A2, SUV39H1, TIMM17B, WAS 0 0 1 0 0 0 0 1
EXT2, LOC126861201 1 0 0 0 0 0 0 1
FAT1 0 1 0 0 0 0 0 1
FGF8 0 0 1 0 0 0 0 1
FNTA, HOOK3, LOC129389983, LOC130000310, LOC130000311, LOC130000312, LOC130000313, LOC130000314, LOC130000315, MIR4469, POMK, RNF170, THAP1 0 0 1 0 0 0 0 1
GGNBP2, MYO19, PIGW 0 0 1 0 0 0 0 1
GPHN, LOC130055900, PIGH 1 0 0 0 0 0 0 1
HES7, LOC130060203 1 0 0 0 0 0 0 1
KCTD7, LOC129998533, LOC129998534, LOC129998535 0 0 1 0 0 0 0 1
KRT5, LOC126861525 0 0 1 0 0 0 0 1
LOC100996842, MPDU1 0 0 1 0 0 0 0 1
LOC129934229, LOC129934230, LOC129934231, LOC129934232, LOC129934233, LOC129934234, LOC129934235, LOC129934236, ST3GAL5 0 0 1 0 0 0 0 1
LOC130058391, PMM2 1 0 0 0 0 0 0 1
LOC130058392, LOC130058393, PMM2 1 0 0 0 0 0 0 1
LOC130060313, PIGL 0 0 1 0 0 0 0 1
LOC130060544, TMEM199 0 0 0 1 0 0 0 1
LOC130062624, LOC130062625, LOC130062626, LOC130062627, LOC130062628, LOC130062629, LOC130062630, LOC130062631, LOC132090496, LOC132090497, LOC132090498, LOC132090499, LOC132090500, LOC132090501, LOC132090899, PIGN, RELCH, TNFRSF11A 0 0 1 0 0 0 0 1
LOC130068257, LOC130068258, SLC35A2 1 0 0 0 0 0 0 1
LOC132090496, LOC132090497, LOC132090498, LOC132090499, LOC132090899, PIGN 1 0 0 0 0 0 0 1
LOC132090496, PIGN 0 1 0 0 0 0 0 1
LURAP1, POMGNT1 1 0 0 0 0 0 0 1
MAN1B1 0 0 0 0 0 0 1 1
MAN2B2 0 0 1 0 0 0 0 1
ME1, PGM3, RWDD2A 1 0 0 0 0 0 0 1
MPDU1, SOX15 0 0 1 0 0 0 0 1
MYH1, MYHAS 0 0 1 0 0 0 0 1
PDE6B, PIGG, ZNF721 1 0 0 0 0 0 0 1
PIGG, ZNF141, ZNF718, ZNF721, ZNF732 0 0 1 0 0 0 0 1
PIGW 0 0 1 0 0 0 0 1
PIGY 1 0 0 0 0 0 0 1
POLR1A, ST3GAL5 0 0 1 0 0 0 0 1
POLR3F, RBBP9, SEC23B 0 0 1 0 0 0 0 1
RYR1 0 0 1 0 0 0 0 1
SARM1 0 0 0 1 0 0 0 1
SETD5 0 0 1 0 0 0 0 1
SPTBN1 1 0 0 0 0 0 0 1
SSR3 0 1 0 0 0 0 0 1
TBX6 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 222
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1593 463 9196 10457 1191 0 0 22900
Illumina Laboratory Services, Illumina 20 7 2170 280 388 0 0 2857
Baylor Genetics 229 452 252 1 0 0 0 934
Fulgent Genetics, Fulgent Genetics 85 66 415 198 21 0 0 785
OMIM 637 0 2 0 0 0 0 639
Natera, Inc. 60 22 271 67 56 0 0 476
Counsyl 17 184 138 12 2 0 0 353
Genome-Nilou Lab 4 0 38 8 270 0 0 319
Revvity Omics, Revvity 28 39 121 0 0 0 0 188
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 108 74 0 0 0 0 0 182
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 52 17 56 1 0 0 0 126
Myriad Genetics, Inc. 19 74 3 0 0 0 0 96
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 20 27 42 0 0 0 0 89
3billion 24 30 18 15 0 0 0 87
Mendelics 25 24 13 4 14 0 0 80
Neuberg Centre For Genomic Medicine, NCGM 10 18 51 0 0 0 0 79
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 23 23 25 0 0 72
University of Washington Center for Mendelian Genomics, University of Washington 14 58 0 0 0 0 0 72
Institute of Human Genetics, University of Leipzig Medical Center 16 15 22 2 0 0 0 55
Centre for Mendelian Genomics, University Medical Centre Ljubljana 13 9 19 0 2 0 0 43
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 6 30 0 0 0 0 42
Juno Genomics, Hangzhou Juno Genomics, Inc 11 18 13 0 0 0 0 42
New York Genome Center 4 13 25 0 0 0 0 42
GeneReviews 4 0 0 0 3 0 33 40
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 34 3 0 0 0 40
MGZ Medical Genetics Center 11 13 13 0 0 0 0 37
SIB Swiss Institute of Bioinformatics 4 20 6 0 2 0 0 32
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 19 11 0 0 0 0 0 30
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 10 15 0 0 0 0 29
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 9 7 12 1 0 0 0 28
Genetic Services Laboratory, University of Chicago 5 3 18 0 0 0 0 26
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 14 11 0 0 0 0 0 25
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 5 0 0 1 17 0 0 23
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 6 9 8 0 0 0 0 22
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 6 9 7 0 0 0 0 22
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 14 6 0 0 0 0 0 20
GenomeConnect, ClinGen 0 0 0 0 0 0 19 19
Centogene AG - the Rare Disease Company 7 4 7 0 0 0 0 18
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 7 9 1 0 0 0 0 17
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 11 0 0 0 0 0 17
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 9 3 0 0 0 0 17
Undiagnosed Diseases Network, NIH 8 6 3 0 0 0 0 17
Mayo Clinic Laboratories, Mayo Clinic 1 2 11 0 0 0 0 14
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 12 2 0 0 0 0 0 14
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 14 14
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 1 2 0 0 0 0 12
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 4 8 0 0 0 0 12
Athena Diagnostics 2 0 0 0 9 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 5 1 0 3 2 0 0 11
Knight Diagnostic Laboratories, Oregon Health and Sciences University 7 2 2 0 0 0 0 11
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 6 1 4 0 0 0 0 11
Molecular Genetics, Royal Melbourne Hospital 1 4 3 0 3 0 0 11
Lab Thiel (Congenital Disorders of Glycosylation), Center for Child and Adolescent Medicine 10 0 0 0 0 0 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 5 1 0 0 0 0 10
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 6 3 0 0 0 0 0 9
DASA 8 1 0 0 0 0 0 9
Daryl Scott Lab, Baylor College of Medicine 4 1 3 0 0 0 0 8
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 4 4 0 0 0 0 0 8
Genomics England Pilot Project, Genomics England 1 7 0 0 0 0 0 8
Dr.Nikuei Genetic Center 2 1 0 1 4 0 0 8
Institute of Human Genetics, Cologne University 0 5 2 0 0 0 0 7
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 3 4 0 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 1 0 0 0 0 0 7
Pediatric Metabolic Diseases, Hacettepe University 4 3 0 0 0 0 0 7
Genomic Medicine Lab, University of California San Francisco 1 3 3 0 0 0 0 7
Morava/Kozicz Lab, Department of Clinical Genomics, Mayo Clinic 3 2 2 0 0 0 0 7
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 7 0 0 0 0 0 0 7
Research Laboratories, P. D. Hinduja Hospital & MRC 0 7 0 0 0 0 0 7
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 2 4 0 0 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 4 0 2 0 0 0 0 6
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 3 1 1 0 0 6
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 2 3 1 0 0 0 0 6
Suma Genomics 4 1 1 0 0 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 6 6
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 5 1 0 0 0 0 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 2 2 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 3 2 0 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 0 0 2 0 0 5
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 4 1 0 0 0 0 0 5
Biochemistry and Genetic Laboratory, APHP Bichat Claude Bernard Hospital 3 2 0 0 0 0 0 5
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 2 2 0 0 0 0 5
MVZ Medizinische Genetik Mainz 0 2 3 0 0 0 0 5
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 2 1 0 0 0 0 4
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 4 0 0 0 0 0 0 4
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 1 1 0 0 0 4
Hadassah Hebrew University Medical Center 2 2 0 0 0 0 0 4
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 3 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 1 0 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 3 0 1 0 0 0 0 4
Laboratory of Medical Genetics, University of Torino 1 0 3 0 0 0 0 4
Breda Genetics srl 0 0 4 0 0 0 0 4
Reproductive Health Research and Development, BGI Genomics 2 1 1 0 0 0 0 4
Pars Genome Lab 1 0 2 1 0 0 0 4
Department of Hepatology, Children's Hospital of Fudan University 4 0 0 0 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 3 0 0 0 0 3
Sema4, Sema4 2 0 1 0 0 0 0 3
Center for Genetic Medicine Research, Children's National Medical Center 0 3 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 1 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 1 0 0 0 0 3
Institute of Experimental Medicine, Department of Genetics, Istanbul University 3 0 0 0 0 0 0 3
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 2 1 0 0 0 0 0 3
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute 3 0 0 0 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 2 1 0 0 0 0 3
Phosphorus, Inc. 0 0 1 0 2 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 2 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 1 0 0 0 0 0 3
Genetic Diseases Diagnostic Center, Koc University Hospital 0 3 0 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 1 0 3
Institute of Human Genetics, University Hospital Muenster 2 1 0 0 0 0 0 3
Lifecell International Pvt. Ltd 2 1 0 0 0 0 0 3
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 2 0 0 0 0 3
Precision Medical Center, Wuhan Children's Hospital 0 3 0 0 0 0 0 3
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 2 0 0 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 1 2 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 2 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 2
Dobyns Lab, Seattle Children's Research Institute 2 0 0 0 0 0 0 2
Metabolic Research Unit, Children's University Hospital Muenster 2 0 0 0 0 0 0 2
Center for Human Genetics, University of Leuven 2 0 0 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 2 0 0 0 0 0 2
Bicknell laboratory, University of Otago 2 0 0 0 0 0 0 2
GenePathDx, GenePath diagnostics 2 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 0 0 2
Neurology Department, Peking University First Hospital 1 1 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 1 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 1 0 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 0 1 0 0 0 0 2
Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 2 0 0 0 0 0 0 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 2 0 0 0 0 0 2
Clinical genetics, CHU Grenoble-Alpes 2 0 0 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 0 0 0 0 2
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 1 1 0 0 0 0 0 2
IRCCS Fondazione Stella Maris, University of Pisa 0 2 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 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 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 1 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 0 0 0 0 0 0 2
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 2 0 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 1 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 1 1 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 1 0 1 0 0 0 0 2
Istanbul Faculty of Medicine, Istanbul University 2 0 0 0 0 0 0 2
Children’s Center Hospital, Tehran University of Medical Sciences 0 0 0 0 0 2 0 2
Division of Biology and Genetics, University of Brescia 2 0 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 1 1 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 2 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 2 0 0 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 1 1 0 0 0 0 0 2
Igenomix - Part of Vitrolife Group, Igenomix 0 0 2 0 0 0 0 2
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 0 0 1
FirmaLab, FirmaLab 1 0 0 0 0 0 0 1
Laboratory for Study of Mitochondrial Disorders, Charles University, First Faculty of Medicine - General University Hospital in Prague 1 0 0 0 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 1
Leiden Muscular Dystrophy (DPM3) 0 0 0 0 0 0 1 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 0 1
Marco Cassone, Clinical geneticist 1 0 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 0 0 1
Emory University School of Medicine, Department of Human Genetics, Emory University 1 0 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
GeniaGeo, Laboratorio Genia 1 0 0 0 0 0 0 1
Unidade de Bioquimica Genetica, Centro Hospitalar do Porto 1 0 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 0 0 0 0 0 0 1
Marseille Medical Genetics, U1251, Aix Marseille University, Inserm 0 1 0 0 0 0 0 1
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford 0 0 0 1 0 0 0 1
DNA Laboratuvarlari GHTM 1 0 0 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 1 0 0 0 0 0 1
Institute of Cell Biology and Neurobiology, Charite - Universitaetsmedizin Berlin 1 0 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 0 1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 1 0 0 0 0 0 0 1
James R Lupski Laboratory, Baylor College Of Medicine 1 0 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 1 0 0 0 0 0 0 1
Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital 0 0 1 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 1 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 0 0 1
Medical Genetics, Christian Medical College 0 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 0 1
Pediatric Neurology and Rare Diseases Department, Hospital Sant Joan de Deu 1 0 0 0 0 0 0 1
AUSL-IRCCS di Reggio Emilia, Arcispedale Santa Maria Nuova 0 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 1
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Tang Du Hospital of the Air Force Military Medical University 1 0 0 0 0 0 0 1
Corniche Hospital, Abu Dhabi, Abu Dhabi Health Services Co - SEHA 0 1 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 0 1
Prenatal Diagnosis Center, Peking University People's Hospital 0 1 0 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 0 1 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 0 1
Dept. of Pathology and Cell Biology, NewYork-Presbyterian Hospital/Columbia University Irving Medical Center 0 1 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 0 1
Department of Laboratory Medicine, Örebro University Hospital 0 1 0 0 0 0 0 1

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