ClinVar Miner

Variants studied for congenital limb malformation

Included ClinVar conditions (418):
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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 association risk factor other not provided total
4504 1637 14451 5431 3114 1 1 1 35 27780

Gene and significance breakdown #

Total genes and gene combinations: 391
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
BRIP1 240 106 1518 414 51 0 0 0 0 2253
FANCA 521 174 719 349 65 0 0 0 0 1674
NOTCH1 30 13 586 360 102 0 0 0 2 1074
FBN2 20 22 615 221 121 0 0 0 2 954
CEP290 198 46 387 273 43 0 0 0 0 887
FANCM 59 11 612 154 31 0 0 0 0 865
SLX4 34 8 579 161 84 0 0 0 0 827
RAD51C 98 55 539 143 8 0 0 0 0 822
NIPBL 246 70 148 47 30 0 0 0 0 520
RPGRIP1L 78 19 252 147 28 0 0 0 0 494
FANCI 39 10 337 89 40 0 0 0 0 484
CC2D2A 49 41 290 92 27 0 0 0 0 449
PIGO 30 11 317 89 16 0 0 0 1 445
AOPEP, FANCC 44 49 250 102 23 0 0 0 0 429
EVC2 70 19 42 214 63 0 0 0 0 407
CREBBP 205 63 73 27 45 0 0 0 1 402
GLI3 76 5 141 88 111 0 0 0 0 396
DHCR7 77 97 153 100 29 0 0 0 2 372
LRP4 10 2 251 88 44 0 0 0 0 362
ADAMTS17 5 0 227 30 89 0 0 0 0 349
EVC 51 25 47 191 33 0 0 0 0 346
DOK7 28 7 199 64 25 0 0 0 0 321
MKS1 36 38 168 97 11 0 0 0 0 316
SMC1A 56 39 151 53 26 0 0 0 0 310
FANCA, ZNF276 75 27 139 72 21 0 0 0 0 301
FANCD2, LOC107303338 35 7 172 71 39 0 0 0 0 295
FANCG 63 13 137 95 8 0 0 0 0 294
BRCA2 40 1 150 68 28 0 0 0 1 285
FBN1 14 13 133 46 80 0 0 0 1 283
FANCC 58 37 138 70 7 0 0 0 0 282
KIF7 18 4 160 51 42 0 0 0 0 255
OFD1 139 12 50 16 29 0 0 0 0 243
EP300 58 25 70 38 44 0 0 0 2 226
RAPSN 26 8 110 73 15 0 0 0 0 218
LTBP2 1 0 163 14 31 0 0 0 0 208
FANCE 16 7 150 33 17 0 0 0 0 207
MUSK 10 8 133 33 22 0 0 0 0 204
MYH3 24 9 109 53 100 0 0 0 0 204
CHRND 6 6 138 48 21 0 0 0 0 201
ERCC4 12 4 132 38 16 0 0 0 0 196
UBA1 3 0 95 56 41 0 0 0 0 195
TBX5 68 14 49 9 50 0 0 0 0 185
FANCF 14 1 124 28 24 0 0 0 0 183
FANCB 22 2 86 34 44 0 0 0 0 181
CHRNA1 11 2 111 44 13 0 0 0 0 168
TMEM67 25 36 91 23 14 0 0 0 0 165
VANGL1 0 0 92 15 58 0 0 0 0 164
MEGF8 7 2 80 40 33 0 0 0 0 161
ARID1B 84 32 32 1 0 0 0 0 1 147
PDE4D 11 2 76 6 51 0 0 0 0 146
SMARCA4 9 9 48 6 74 0 0 0 0 144
FGFR2 36 10 50 15 37 0 0 0 0 143
TBX3 8 1 66 14 50 0 0 0 0 136
TGFB2 24 7 67 30 8 0 0 0 0 134
ADAMTS10 8 0 90 14 19 0 0 0 0 131
RIPK4 6 0 78 16 29 0 0 0 0 129
ROR2 8 3 44 11 62 0 0 0 1 128
SMC3 11 20 60 22 26 0 0 0 0 126
MYH8, MYHAS 1 0 92 17 11 0 0 0 0 120
TP63 26 2 44 7 39 0 0 0 0 118
CDH3 2 1 88 7 18 0 0 0 0 116
FANCD2, FANCD2OS 10 2 83 16 11 0 0 0 0 116
LMBR1 5 0 51 5 55 0 0 0 0 116
NPHP3, NPHP3-ACAD11 7 1 91 11 5 0 0 0 0 115
PALB2 19 0 70 17 7 0 0 0 2 114
FANCL 13 6 67 18 6 0 0 0 0 105
FGF9 2 0 67 4 32 0 0 0 0 105
TCTN2 9 4 72 15 19 0 0 0 0 105
CPLANE1 22 5 26 12 38 0 0 0 0 103
GLI2 10 3 25 28 33 0 0 0 0 99
SLC35A3 13 1 37 42 4 0 0 0 0 93
SALL1 35 4 26 12 23 0 0 0 0 92
TPM2 11 7 35 25 12 0 0 0 0 86
DHODH 9 1 49 10 16 0 0 0 0 83
FGFR1 6 4 32 27 13 0 0 0 0 81
RAB23 12 0 32 40 4 0 0 0 0 79
VPS33B 13 2 40 8 14 1 0 0 0 78
MYBPC1 3 1 26 5 43 0 0 0 0 77
GLE1 8 3 57 4 8 0 0 0 0 76
IRF6 27 8 31 3 6 0 0 0 1 76
TMEM231 8 2 32 21 10 0 0 0 0 71
IHH 9 5 28 2 26 0 0 0 0 70
FANCL, VRK2 6 8 42 10 7 0 0 0 0 68
ARID1A 20 10 31 4 0 0 0 0 1 66
CHST14 13 2 38 11 3 0 0 0 3 66
TWIST1 33 8 20 5 3 0 0 0 0 66
GJA1 2 0 39 3 21 0 0 0 0 65
DLL3 0 0 46 8 10 0 0 0 0 64
PIEZO2 30 8 22 0 1 0 0 0 0 61
PIGV 6 3 44 2 7 0 0 0 0 61
TMEM216 5 13 38 4 5 0 0 0 0 61
PIK3R2 3 3 22 15 17 0 0 0 1 60
RECQL4 5 16 36 0 1 0 0 0 0 58
SALL4 21 1 9 6 21 0 0 0 0 58
TCTN1 4 1 21 22 8 0 0 0 0 56
BRCA1 29 1 20 0 2 0 0 0 0 52
CHRNG 12 3 35 3 5 0 0 0 0 52
CHSY1 6 0 24 5 17 0 0 0 0 52
RAD21 22 3 11 11 5 0 0 0 0 52
FAM20A, PRKAR1A 4 1 39 1 6 0 0 0 0 51
HDAC8 22 19 10 1 1 0 0 0 0 50
GDF5 15 1 15 10 19 0 0 0 0 47
TCTN3 10 2 15 11 9 0 0 0 0 47
FANCA, LOC112486223 19 7 17 5 3 0 0 0 0 46
CHRNG, TIGD1 3 1 35 3 6 0 0 0 1 45
EFTUD2 26 8 6 0 3 0 0 0 0 43
HOXD10 1 0 27 3 11 0 0 0 0 42
B9D1 3 1 25 9 7 0 0 0 0 40
BMPR1B 6 0 20 8 6 0 0 0 1 40
TNNT3 4 1 28 5 6 0 0 0 0 39
BAG2, RAB23 0 0 27 5 6 0 0 0 0 38
C12orf29, CEP290 12 1 19 6 1 0 0 0 0 38
FANCI, POLG 3 1 21 7 10 0 0 0 0 38
MGP 4 0 15 6 13 0 0 0 0 37
ECEL1 26 6 5 0 0 0 0 0 0 35
DSE 2 0 18 6 7 0 0 0 0 32
EOGT 7 2 9 6 9 0 0 0 0 32
ZC4H2 22 6 4 0 0 0 0 0 1 32
CPLANE1, NIPBL 9 2 15 2 2 0 0 0 1 31
EFNB1 16 12 2 0 1 0 0 0 0 30
FANCD2 11 4 11 1 2 0 0 0 0 29
PIGW 3 1 16 7 3 0 0 0 0 29
AFF4 3 2 9 7 9 0 0 0 0 28
DOCK6 7 3 8 0 8 0 0 0 1 26
SF3B4 24 0 1 0 0 0 0 0 0 25
TNNI2 4 1 14 2 5 0 0 0 0 24
HOXD13 20 0 2 0 0 0 0 0 0 22
PGAP3 18 3 4 0 0 0 0 0 0 21
​intergenic 12 3 4 0 1 0 0 0 0 20
PRKAR1A 0 1 8 4 7 0 0 0 0 20
SMARCC2 6 3 11 0 0 0 0 0 0 20
AKT3 5 3 10 2 0 0 0 0 0 19
NOG 17 2 0 0 0 0 0 0 0 19
XRCC2 0 1 15 3 0 0 0 0 0 19
DLL4 13 2 3 0 0 0 0 0 0 17
GLDN 9 6 3 0 0 0 0 0 0 17
B9D2 4 2 3 2 5 0 0 0 0 16
LGI4 8 6 2 0 0 0 0 0 0 16
RYR1 6 10 0 0 0 0 0 0 0 16
C2CD3 5 0 9 0 1 0 0 0 0 15
SMARCB1 3 6 7 0 0 0 0 0 0 15
TELO2 7 2 8 0 0 0 0 0 0 15
VIPAS39 9 2 4 0 0 0 0 0 0 15
ARHGAP31 3 0 6 5 0 0 0 0 0 14
CNTNAP1 10 3 2 0 0 0 0 0 0 14
FGF10 4 6 3 1 0 0 0 0 0 14
LMBR1, ZRS 14 0 0 0 0 0 0 0 0 14
MYCN 11 3 0 0 0 0 0 0 0 14
PGAP2 7 2 5 0 0 0 0 0 0 14
SOX11 4 6 5 0 0 0 0 0 0 14
CASQ2, VANGL1 0 0 0 0 13 0 0 0 0 13
FGFR3 9 0 3 0 0 0 0 0 1 13
FKBP10 8 1 4 0 0 0 0 0 0 13
SCARF2 5 2 3 1 3 0 0 0 0 13
SYNE1 2 1 9 1 0 0 0 0 0 13
NECTIN4 8 0 2 0 0 0 0 0 1 11
TRPV4 6 0 5 0 0 0 0 0 0 11
ATP6V0A2, TCTN2 0 0 1 5 6 0 0 0 0 10
CKAP2L 6 1 3 0 0 0 0 0 0 10
DOCK6, LOC105372273 2 2 1 1 4 0 0 0 0 10
PDE6D 2 2 2 4 1 0 0 0 0 10
ASCC1 7 0 1 0 1 0 0 0 0 9
GDF5, LOC109461476 0 0 5 1 5 0 0 0 0 9
POLR1A 3 0 5 1 0 0 0 0 0 9
RBM8A 5 1 0 1 2 0 0 0 0 9
CCND2 7 1 1 0 0 0 0 0 0 8
HDAC4 0 0 4 3 1 0 0 0 0 8
KIF14 2 1 5 0 0 0 0 0 0 8
PDE3A 7 1 0 0 0 0 0 0 0 8
SMO 6 2 0 0 0 0 0 0 0 8
SOX4 4 0 4 0 0 0 0 0 0 8
BRIP1, LOC110120932 1 1 5 0 0 0 0 0 0 7
DPF2 5 0 2 0 0 0 0 0 0 7
ERBB3 3 2 2 0 0 0 0 0 0 7
FANCG, VCP 1 0 3 3 6 0 0 0 0 7
IQCE 5 1 1 0 0 0 0 0 0 7
LMNA 3 0 4 0 0 0 0 0 0 7
SMARCE1 3 1 3 0 0 0 0 0 0 7
ZSWIM6 1 1 5 0 0 0 0 0 2 7
ADGRG6 3 0 2 0 2 0 0 0 0 6
BRCA2, LOC106721785 0 0 3 2 1 0 0 0 0 6
DDX59 3 1 2 0 0 0 0 0 0 6
EVC, EVC2 1 0 0 3 3 0 0 0 0 6
GLI1 4 1 2 0 0 0 0 0 0 6
HOXA13 6 0 0 0 0 0 0 0 0 6
MYCN, MYCNOS 3 1 0 1 1 0 0 0 0 6
TGDS 6 0 0 0 0 0 0 0 0 6
WNT7A 6 0 0 0 0 0 0 0 0 6
ADCY6 3 1 1 0 0 0 0 0 0 5
CCNQ 5 0 0 0 0 0 0 0 0 5
CHRND, CHRNG 0 0 1 4 4 0 0 0 0 5
KIAA1109 0 5 0 0 0 0 0 0 0 5
LIX1L, RBM8A 3 1 1 0 1 0 0 1 0 5
LOC111162620, TP63 0 0 4 0 1 0 0 0 0 5
RBPJ 2 3 0 0 0 0 0 0 0 5
SMARCD1 5 0 0 0 0 0 0 0 0 5
UBE2T 5 0 0 0 0 0 0 0 0 5
ARID1B, LOC115308161 0 1 2 0 1 0 0 0 0 4
IQSEC2, SMC1A 0 0 4 0 0 0 0 0 0 4
KIAA0753 2 1 1 0 0 0 0 0 0 4
KYNU 4 0 0 0 0 0 0 0 0 4
NUP88 3 0 1 0 0 0 0 0 0 4
PIGY, PYURF 1 0 3 0 0 0 0 0 0 4
PITX1 2 1 1 0 0 0 0 0 0 4
PTHLH 4 0 0 0 0 0 0 0 0 4
TBX15 2 0 2 0 0 0 0 0 0 4
TMEM107 4 0 0 0 0 0 0 0 0 4
B3GALT6 3 0 0 0 0 0 0 0 0 3
BHLHA9 3 0 0 0 0 0 0 0 0 3
DNM2 1 0 2 0 0 0 0 0 0 3
FGF16 3 0 0 0 0 0 0 0 0 3
IFT57 1 1 1 0 0 0 0 0 0 3
LOC112441444, MYLPF 1 3 0 0 0 0 0 0 0 3
MAP3K20 2 0 1 0 0 0 0 0 0 3
MECOM 3 0 1 0 0 0 0 0 0 3
NALCN 0 3 0 0 0 0 0 0 0 3
NEK9 1 0 1 1 0 0 0 0 0 3
RAD51 2 1 0 0 0 0 0 0 0 3
RFWD3 2 0 1 0 0 0 0 0 0 3
TOR1A 3 0 0 0 0 0 0 0 0 3
TRIP4 2 1 0 0 0 0 0 0 0 3
TXNDC15 1 2 0 0 0 0 0 0 0 3
ZBTB42 1 0 1 0 1 0 0 0 0 3
ZNF141 3 1 0 0 0 0 0 0 0 3
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NPIPA5, RRN3 0 0 0 0 0 0 0 0 2 2
ADCY9, CREBBP, GLIS2, SRL, TFAP4 1 0 1 0 0 0 0 0 0 2
AOPEP, FANCC, LOC100507346, LOC110121043, PTCH1 1 0 1 0 0 0 0 0 0 2
ARHGEF39, ARID3C, C9orf131, CA9, CCDC107, CCL19, CCL21, CCL27, CD72, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FAM166B, FAM205A, FAM214B, FANCG, GALT, GBA2, IL11RA, MSMP, NPR2, PHF24, PIGO, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, STOML2, TESK1, TLN1, TPM2, UNC13B, VCP 1 0 1 0 0 0 0 0 0 2
ASAH1 0 2 0 0 0 0 0 0 0 2
ASPM 1 1 0 0 0 0 0 0 0 2
ATP1A2 0 2 0 0 0 0 0 0 0 2
BMP2 1 0 1 0 0 0 0 0 0 2
C9orf163, CAMSAP1, CARD9, DNLZ, ENTR1, GPSM1, INPP5E, KCNT1, LHX3, NACC2, NOTCH1, PMPCA, QSOX2, SEC16A, SNAPC4, TMEM250, UBAC1 1 0 1 0 0 0 0 0 0 2
CHUK 1 0 1 0 0 0 0 0 0 2
DACT1 1 0 1 0 0 0 0 0 0 2
DARS2 2 0 0 0 0 0 0 0 0 2
DHCR7, NADSYN1 0 0 1 1 1 0 0 0 0 2
DYNC1H1 0 0 2 0 0 0 0 0 0 2
EARS2 0 2 0 0 0 0 0 0 0 2
FBLN1 0 0 2 0 0 0 0 0 0 2
FBN1, LOC113939944 0 0 0 1 1 0 0 0 0 2
GDF6 2 0 1 0 0 0 0 0 0 2
HOXA13, LOC107126288 2 0 0 0 0 0 0 0 0 2
KDM8 0 0 2 0 0 0 0 0 0 2
KIAA0825 2 0 0 0 0 0 0 0 0 2
LDLR 0 0 0 0 2 0 0 0 0 2
MIR4673, NOTCH1 0 0 1 1 0 0 0 0 0 2
PIP5K1C 1 0 0 1 0 0 0 0 0 2
PKD1 0 0 2 0 0 0 0 0 0 2
PLOD2 0 2 0 0 0 0 0 0 0 2
RSPO2 2 0 0 0 0 0 0 0 0 2
SCYL2 2 0 0 0 0 0 0 0 0 2
SMARCA2 0 0 1 0 0 0 0 0 1 2
SPAG16 0 0 2 0 0 0 0 0 0 2
TBX4 2 0 0 0 0 0 0 0 0 2
TMEM218 2 0 0 0 0 0 0 0 0 2
VPS13D 0 0 2 0 0 0 0 0 0 2
WDPCP 0 2 0 0 0 0 0 0 0 2
AARS1 0 0 1 0 0 0 0 0 0 1
AATF, ACACA, DHRS11, GGNBP2, LHX1, MRM1, MYO19, PIGW 0 0 1 0 0 0 0 0 0 1
ABR, ALOX15, ANKFY1, ARRB2, ASPA, ATP2A3, BHLHA9, C17orf107, C17orf97, C1QBP, CAMKK1, CAMTA2, CHRNE, CLUH, CRK, CTNS, CXCL16, CYB5D2, DERL2, DHX33, DPH1, EMC6, ENO3, GEMIN4, GGT6, GLOD4, GLTPD2, GP1BA, HASPIN, HIC1, INCA1, INPP5K, ITGAE, KIF1C, LOC100288728, MED11, METTL16, MINK1, MIR132, MIR212, MIR22, MIS12, MNT, MRM3, MYBBP1A, MYO1C, NCBP3, NLRP1, NUP88, NXN, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR1G1, OR3A1, OR3A2, OR3A3, OVCA2, P2RX1, P2RX5, PAFAH1B1, PELP1, PFN1, PITPNA, PLD2, PRPF8, PSMB6, RABEP1, RAP1GAP2, RFLNB, RILP, RNF167, RPA1, RPAIN, RPH3AL, RTN4RL1, SCARF1, SCIMP, SERPINF1, SERPINF2, SGSM2, SHPK, SLC25A11, SLC43A2, SLC52A1, SMG6, SMTNL2, SMYD4, SPAG7, SPATA22, SPNS2, SPNS3, SRR, TAX1BP3, TIMM22, TLCD2, TLCD3A, TM4SF5, TRARG1, TRPV1, TRPV3, TSR1, UBE2G1, USP6, VMO1, VPS53, WDR81, WSCD1, YWHAE, ZFP3, ZMYND15, ZNF232, ZNF594, ZZEF1 1 0 0 0 0 0 0 0 0 1
ABR, BHLHA9, TRARG1, YWHAE 1 0 0 0 0 0 0 0 0 1
ACAT2, AFDN, AGPAT4, AIRN, AKAP12, ARID1B, ARMT1, C6orf118, C6orf120, CCDC170, CCR6, CEP43, CLDN20, CNKSR3, DACT2, DLL1, DYNLT1, DYNLT2, ERMARD, ESR1, EZR, FAM120B, FBXO5, FNDC1, FRMD1, GPR31, GTF2H5, IGF2R, IPCEF1, KIF25, LINC02487, LINC02901, LOC729681, LPA, MAP3K4, MAS1, MPC1, MRPL18, MTRF1L, MYCT1, NOX3, OPRM1, PACRG, PDCD2, PDE10A, PHF10, PLG, PNLDC1, PRKN, PRR18, PSMB1, QKI, RGS17, RMND1, RNASET2, RPS6KA2, RSPH3, SCAF8, SDIM1, SERAC1, SFT2D1, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNX9, SOD2, SYNE1, SYNJ2, SYTL3, TAGAP, TBP, TBXT, TCP1, TFB1M, THBS2, TIAM2, TMEM181, TMEM242, TTLL2, TULP4, UNC93A, VIP, WDR27, WTAP, ZBTB2, ZDHHC14 1 0 0 0 0 0 0 0 0 1
ACKR3, AGAP1, AGXT, ALPG, ALPI, ALPP, ANKMY1, ANO7, AQP12A, AQP12B, ARL4C, ASB1, ASB18, ATG16L1, ATG4B, BOK, CAPN10, CHRND, CHRNG, COL6A3, COPS8, COPS9, D2HGDH, DGKD, DIS3L2, DNAJB3, DTYMK, DUSP28, ECEL1, EFHD1, EIF4E2, ERFE, ESPNL, FARP2, GAL3ST2, GBX2, GIGYF2, GPC1, GPR35, HDAC4, HDLBP, HES6, HJURP, ILKAP, ING5, IQCA1, KCNJ13, KIF1A, KLHL30, LOC100128563, LRRFIP1, MAB21L4, MIR149, MLPH, MROH2A, MTERF4, NDUFA10, NEU2, NEU4, NGEF, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, PRSS56, RAB17, RAMP1, RBM44, RNPEPL1, RTP5, SAG, SCLY, SEPTIN2, SH3BP4, SNED1, SNORC, SPP2, STK25, THAP4, TIGD1, TRAF3IP1, TRPM8, TWIST2, UBE2F, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, USP40 1 0 0 0 0 0 0 0 0 1
ACKR3, AGAP1, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ASB18, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GBX2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, IQCA1, KIF1A, KLHL30, LOC100128563, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, OR6B2, OR6B3, OTOS, PASK, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 0 0 0 0 0 0 0 1
ACTA1 1 0 0 0 0 0 0 0 0 1
ACTN4 0 0 0 1 0 0 0 0 0 1
ADCY1, AEBP1, BLVRA, C7orf25, CAMK2B, CCM2, COA1, DBNL, DDX56, GCK, GLI3, H2AZ2, HECW1, HECW1-IT1, IGFBP1, IGFBP3, INHBA, LINC02902, MRPL32, MRPS24, MYL7, MYO1G, NACAD, NPC1L1, NUDCD3, OGDH, PGAM2, PKD1L1, POLD2, POLM, PPIA, PSMA2, PURB, RAMP3, SNHG15, SNORA5C, SPDYE1, STK17A, TBRG4, TMED4, TNS3, UBE2D4, URGCP, YKT6, ZMIZ2 1 0 0 0 0 0 0 0 0 1
ADCY6, TEX49 1 0 0 0 0 0 0 0 0 1
ADCY9, ANKS3, C16orf96, CDIP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, DNAJA3, GLIS2, HMOX2, LINC01569, LINC02861, LOC112441450, LOC113939951, MGRN1, MIR6769A, NMRAL1, NUDT16L1, PAM16, ROGDI, SEPTIN12, SMIM22, SRL, TFAP4, UBALD1, VASN, ZNF500 1 0 0 0 0 0 0 0 0 1
ADD1, ADRA2C, CYTL1, DOK7, EVC2, FAM193A, GRK4, HAUS3, HGFAC, HTT, LINC01587, LRPAP1, LYAR, MFSD10, MSANTD1, MSX1, MXD4, NOP14, NSG1, OTOP1, POLN, RGS12, RNF4, SH3BP2, STK32B, STX18, TMEM128, TNIP2, ZBTB49, ZFYVE28 1 0 0 0 0 0 0 0 0 1
ADSS1 1 0 0 0 0 0 0 0 0 1
AGMO, AGR2, AGR3, AHR, ANKMY2, BZW2, CRPPA, DGKB, FERD3L, HDAC9, ITGB8, LRRC72, MACC1, MEOX2, POLR1F, PRPS1L1, SNX13, SOSTDC1, TMEM196, TSPAN13, TWIST1 1 0 0 0 0 0 0 0 0 1
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, KLHL30, LOC100128563, MAB21L4, MIR149, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRR21, RAMP1, RNPEPL1, RTP5, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 0 1 0 0 0 0 0 0 0 1
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, LOC100128563, MAB21L4, MIR149, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRR21, RNPEPL1, RTP5, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2 1 0 0 0 0 0 0 0 0 1
AKT3, C1orf100, CEP170, LINC01347, LINC02774, LOC110120698, LOC111828504, LOC112577566, MIR4677, PLD5, SDCCAG8, ZBTB18 1 0 0 0 0 0 0 0 0 1
ALDH5A1 0 1 0 0 0 0 0 0 0 1
ANK2 0 0 0 1 0 0 0 0 0 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 0 0 0 0 0 0 0 1 1
ANKRD34A, ANKRD35, CD160, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 1 0 0 0 0 0 0 0 1
ANKRD34A, ANKRD35, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, TXNIP 1 0 0 0 0 0 0 0 0 1
ARHGEF39, ARID3C, C9orf131, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CLTA, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FAM166B, FAM205A, FAM214B, FAM221B, FANCG, GALT, GBA2, GLIPR2, GNE, HINT2, HRCT1, IL11RA, MSMP, NPR2, OR13J1, OR2S2, PHF24, PIGO, RECK, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, STOML2, TESK1, TLN1, TMEM8B, TPM2, UNC13B, VCP 1 0 0 0 0 0 0 0 0 1
ARID1B, TMEM242, ZDHHC14 1 0 0 0 0 0 0 0 0 1
ATP2B3 0 1 0 0 0 0 0 0 0 1
ATP6V1B1 1 0 0 0 0 0 0 0 0 1
AVEN, RYR3 0 0 1 0 0 0 0 0 0 1
BBS12 1 0 0 0 0 0 0 0 0 1
BICD2 0 1 0 0 0 0 0 0 0 1
BPHL, DUSP22, EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B, IRF4, LINC01600, MYLK4, NQO2, RIPK1, SERPINB1, SERPINB6, SERPINB9, TUBB2A, WRNIP1 1 0 0 0 0 0 0 0 0 1
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 1 0 0 0 0 0 0 0 0 1
C12orf29, C12orf50, CEP290, KITLG, TMTC3 1 0 0 0 0 0 0 0 0 1
C17orf47, HSF5, MTMR4, RAD51C, RNF43, SEPTIN4, TEX14 0 0 1 0 0 0 0 0 0 1
C9orf163, INPP5E, NOTCH1, SEC16A 0 1 0 0 0 0 0 0 0 1
CCDC172 0 0 1 0 0 0 0 0 0 1
CCDC96, LOC100129931 0 0 1 0 0 0 0 0 0 1
CCIN, CLTA, CREB3, FAM221B, GBA2, GLIPR2, GNE, HINT2, HRCT1, MSMP, NPR2, OR13J1, OR2S2, RECK, RGP1, SPAG8, TLN1, TMEM8B, TPM2 0 0 1 0 0 0 0 0 0 1
CDX2 0 1 0 0 0 0 0 0 0 1
CELSR2 0 1 0 0 0 0 0 0 0 1
CEP295 0 0 1 0 0 0 0 0 0 1
CHRND, CHRNG, TIGD1 0 0 1 0 0 0 0 0 0 1
CHST11 0 0 1 0 0 0 0 0 0 1
CIBAR1 1 1 0 0 0 0 0 0 0 1
CKAP2L, NT5DC4 1 0 0 0 0 0 0 0 0 1
COL5A1 0 1 0 0 0 0 0 0 0 1
COPS9, GPC1, HDAC4, LOC100128563, NDUFA10, OR6B2, OR6B3, OTOS, PRR21 1 0 0 0 0 0 0 0 0 1
CPQ, GDF6, MTERF3, PTDSS1, SDC2, UQCRB 1 0 0 0 0 0 0 0 0 1
CSPP1 0 1 0 0 0 0 0 0 0 1
DEPDC1B, PART1, PDE4D 0 0 1 0 0 0 0 0 0 1
DLL3, PLEKHG2 0 0 0 0 1 0 0 0 0 1
DLX5 1 0 0 0 0 0 0 0 0 1
DMRTC1, DMRTC1B, HDAC8, NAP1L2, PABPC1L2A, PABPC1L2B, PHKA1 1 0 0 0 0 0 0 0 0 1
DQX1 0 0 1 0 0 0 0 0 0 1
DUOX2 0 0 0 1 0 0 0 0 0 1
DUSP29, KAT6B 0 1 0 0 0 0 0 0 0 1
ERGIC1 1 0 0 0 0 0 0 0 0 1
ESR1, SYNE1 1 0 0 0 0 0 0 0 0 1
EXOC3L2 0 1 0 0 0 0 0 0 0 1
EXOC4, LOC101928861 0 1 0 0 0 0 0 0 0 1
FAM166B 0 0 1 0 0 0 0 0 0 1
FANCA, LOC112486223, MC1R, SPIRE2, TCF25 1 0 0 0 0 0 0 0 0 1
FANCA, LOC112486223, ZNF276 1 0 0 0 0 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25, ZNF276 1 0 0 0 0 0 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 0 0 0 0 1
FZD3 0 1 0 0 0 0 0 0 0 1
GBE1 0 1 0 0 0 0 0 0 0 1
GCN1 0 0 1 0 0 0 0 0 0 1
GFRA4 0 0 1 0 0 0 0 0 0 1
GGNBP2, MYO19, PIGW 0 0 1 0 0 0 0 0 0 1
GLI3, INHBA 1 0 0 0 0 0 0 0 0 1
GLI3, LOC110121152 0 0 1 0 0 0 0 0 0 1
HDAC8, PHKA1 1 0 0 0 0 0 0 0 0 1
HOXA11 1 0 0 0 0 0 0 0 0 1
HR 0 0 0 0 1 0 0 0 0 1
IFT140 0 1 0 0 0 0 0 0 0 1
INPP5E 1 0 0 0 0 0 0 0 0 1
INTU 1 1 0 0 0 0 0 0 0 1
IQSEC3 0 0 1 0 0 0 0 0 0 1
IQSEC3, LOC574538 0 0 1 0 0 0 0 0 0 1
KIAA0586 0 1 0 0 0 0 0 0 0 1
KIF1B 0 0 1 0 0 0 0 0 0 1
KIF7, TICRR 0 0 0 1 0 0 0 0 0 1
KLHL7 0 1 0 0 0 0 0 0 0 1
KMT2A 1 0 0 0 0 0 0 0 0 1
LINC01451, LOC110121282, MIR4674, NALT1, NOTCH1 1 0 0 0 0 0 0 0 0 1
LINC01710, LINC02869, LOC120908908, LYPLAL1, LYPLAL1-DT, TGFB2, TGFB2-OT1 0 1 0 0 0 0 0 0 0 1
LMBR1, RNF32 1 0 0 0 0 0 0 0 0 1
LOC111162621, TP63 0 0 0 1 0 0 0 0 0 1
LOC112486220 1 0 0 0 0 0 0 0 0 1
LRRC37A2, WNT3 1 0 0 0 0 0 0 0 0 1
LSM1 0 0 1 0 0 0 0 0 0 1
MAD2L2 1 0 0 0 0 0 0 0 0 1
MAGI3 0 0 1 0 0 0 0 0 0 1
MET 0 0 0 0 0 0 1 0 0 1
MIR17HG 1 0 0 0 0 0 0 0 0 1
MYLPF 1 1 0 0 0 0 0 0 0 1
MYOD1 1 0 0 0 0 0 0 0 0 1
NAGA 0 0 1 0 0 0 0 0 0 1
NHEJ1 1 0 0 0 0 0 0 0 0 1
PIGB 0 0 1 0 0 0 0 0 0 1
PIGG 1 0 0 0 0 0 0 0 0 1
PIGY 1 0 0 0 0 0 0 0 0 1
PIK3CA 1 0 0 0 0 0 0 0 0 1
PRG4 0 0 1 0 0 0 0 0 0 1
PRICKLE1 0 0 1 0 0 0 0 0 0 1
PTCH1 0 1 0 0 0 0 0 0 0 1
RP1L1 0 1 0 0 0 0 0 0 0 1
SCLT1 0 0 1 0 0 0 0 0 0 1
SCN4A 0 1 0 0 0 0 0 0 0 1
SCN5A 0 1 0 0 0 0 0 0 0 1
SCN8A 0 1 0 0 0 0 0 0 0 1
SEPSECS 0 1 0 0 0 0 0 0 0 1
SETBP1 1 0 0 0 0 0 0 0 0 1
SH3TC2 0 0 1 0 0 0 0 0 0 1
SHH 0 0 1 0 0 0 0 0 0 1
SNORD118, TMEM107 0 0 1 0 0 0 0 0 0 1
TAF6 1 0 0 0 0 0 0 0 0 1
TMEM138 0 1 0 0 0 0 0 0 0 1
TMEM17 0 0 1 0 0 0 0 0 0 1
TMEM237 0 1 0 0 0 0 0 0 0 1
TMPO 0 0 1 0 0 0 0 0 0 1
TNFRSF13B 0 0 1 0 0 0 0 0 0 1
TRPS1 0 0 1 0 0 0 0 0 0 1
TTC23 0 0 1 0 0 0 0 0 0 1
TTC6 0 0 1 0 0 0 0 0 0 1
TULP1 1 0 0 0 0 0 0 0 0 1
UNC13C 0 0 1 0 0 0 0 0 0 1
UNC50 0 0 1 0 0 0 0 0 0 1
ZC3H12B, ZC4H2 1 0 0 0 0 0 0 0 0 1
ZEB2 0 0 1 0 0 0 0 0 0 1
ZNF407 0 0 1 0 0 0 0 0 0 1
ZNF875 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 218
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
Invitae 1917 517 8754 4449 1477 0 0 0 0 17113
Illumina Clinical Services Laboratory,Illumina 17 12 4624 858 1877 0 0 0 0 7259
OMIM 1032 0 3 0 0 0 0 0 0 1035
Leiden Open Variation Database 617 8 114 1 0 0 0 0 0 740
Counsyl 51 286 292 62 16 0 0 0 0 706
Baylor Genetics 174 71 403 0 0 0 0 0 0 648
Fulgent Genetics,Fulgent Genetics 128 24 372 1 3 0 0 0 0 528
Genetic Services Laboratory, University of Chicago 311 105 92 0 2 0 0 1 0 511
Natera, Inc. 31 8 283 61 64 0 0 0 0 447
Mendelics 39 39 149 86 46 0 0 0 0 358
GeneReviews 218 0 0 0 7 0 0 0 0 225
Centre for Mendelian Genomics,University Medical Centre Ljubljana 40 23 90 2 6 0 0 0 0 161
Wessex Regional Genetics Laboratory,Salisbury District Hospital 90 20 8 0 0 0 0 0 0 118
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 3 94 0 0 0 0 0 0 0 97
Institute of Human Genetics, University of Leipzig Medical Center 11 19 56 7 0 0 0 0 0 93
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 59 13 3 1 0 0 0 0 0 76
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 10 62 0 0 0 0 0 0 76
Cirak Lab,University Hospital Cologne 13 33 22 0 0 0 0 0 0 68
Integrated Genetics/Laboratory Corporation of America 38 25 0 0 0 0 0 0 0 63
Genomic Research Center, Shahid Beheshti University of Medical Sciences 10 7 41 3 0 0 0 0 0 61
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 1 6 50 0 0 0 0 59
Myriad Women's Health, Inc. 12 43 0 0 0 0 0 0 0 55
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 22 31 1 0 0 0 0 0 0 54
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 23 16 10 0 0 0 0 0 0 49
Centre of Medical Genetics, University of Antwerp 25 6 14 0 0 0 0 0 0 44
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 24 10 9 0 0 0 0 0 0 43
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 4 0 0 17 21 0 0 0 0 42
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 10 21 10 0 1 0 0 0 0 42
University of Washington Center for Mendelian Genomics, University of Washington 27 11 0 0 0 0 0 0 0 38
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 4 2 6 5 15 0 0 0 0 32
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 6 20 6 0 0 0 0 0 0 32
Institute of Human Genetics, Klinikum rechts der Isar 25 6 0 0 0 0 0 0 0 31
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 6 24 0 0 0 0 31
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 30 30
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 14 15 0 0 0 0 0 0 0 29
Genome Diagnostics Laboratory,University Medical Center Utrecht 3 0 0 7 18 0 0 0 0 28
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 25 1 2 0 0 0 0 0 0 28
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 17 7 1 0 1 0 0 0 0 26
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 12 13 0 0 0 0 0 0 0 25
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 7 11 5 0 0 0 0 0 0 23
Service de Génétique Moléculaire,Hôpital Robert Debré 0 9 1 10 0 0 0 0 0 20
SIB Swiss Institute of Bioinformatics 5 5 9 1 0 0 0 0 0 20
Broad Institute Rare Disease Group, Broad Institute 5 4 7 2 1 0 0 0 0 19
Clinical Genetics Research Group, University of Calgary 18 0 0 0 0 0 0 0 0 18
Knight Diagnostic Laboratories, Oregon Health and Sciences University 7 5 6 0 0 0 0 0 0 18
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 4 12 2 0 0 0 0 0 0 18
Genomic Medicine Lab, University of California San Francisco 9 3 6 0 0 0 0 0 0 18
New York Genome Center 1 2 15 0 0 0 0 0 0 18
Center for Human Genetics, Inc,Center for Human Genetics, Inc 3 10 3 1 0 0 0 0 0 17
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 9 8 0 0 0 0 0 0 0 17
Mayo Clinic Laboratories, Mayo Clinic 3 2 10 0 0 0 0 0 0 15
Department of Medical Genetics, Oslo University Hospital 7 8 0 0 0 0 0 0 0 15
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 11 4 0 0 0 0 0 0 0 15
Johns Hopkins Genomics, Johns Hopkins University 5 2 7 1 0 0 0 0 0 15
Center of Genomic medicine, Geneva,University Hospital of Geneva 9 5 0 0 0 0 0 0 0 14
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 6 7 0 0 0 0 0 0 0 13
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 13 0 0 0 0 0 0 0 0 13
Institute of Human Genetics,Cologne University 5 6 1 0 0 0 0 0 0 12
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 7 1 4 0 0 0 0 0 0 12
Kasturba Medical College, Manipal University 5 7 0 0 0 0 0 0 0 12
Centogene AG - the Rare Disease Company 0 11 0 0 0 0 0 0 0 11
UW Hindbrain Malformation Research Program,University of Washington 11 0 0 0 0 0 0 0 0 11
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 6 2 0 0 0 0 0 0 11
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 8 3 0 0 0 0 0 0 0 11
Clinical Genetics laboratory, University of Goettingen 2 3 3 2 0 0 0 0 0 10
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 7 2 1 0 0 0 0 0 0 10
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 6 4 0 0 0 0 0 0 0 10
Molecular and Medical Genetics Group,King's College London 5 4 1 0 0 0 0 0 0 10
Undiagnosed Diseases Network,NIH 4 6 0 0 0 0 0 0 0 10
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 7 2 0 0 0 0 0 10
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 9 0 0 0 0 0 0 10
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 7 2 0 0 0 0 0 0 0 9
Department of Medical Genetics,Faculty of Medicine, Istanbul University 0 4 5 0 0 0 0 0 0 9
Division of Human Genetics,Children's Hospital of Philadelphia 5 2 0 0 0 0 0 0 0 7
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 7 0 0 0 0 0 0 0 0 7
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 2 1 4 0 0 0 0 0 0 7
Daryl Scott Lab,Baylor College of Medicine 5 0 2 0 0 0 0 0 0 7
Clinical Genetics Group,University of Otago 6 0 1 0 0 0 0 0 0 7
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 2 5 0 0 0 0 0 0 7
Clinical Genomics Program, Stanford Medicine 1 3 3 0 0 0 0 0 0 7
Athena Diagnostics Inc 0 0 0 0 6 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 4 0 0 0 0 0 0 6
Hadassah Hebrew University Medical Center 1 5 0 0 0 0 0 0 0 6
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 5 1 0 0 0 0 0 0 6
Institute of Medical Genetics,University of Zurich 4 1 1 0 0 0 0 0 0 6
Reproductive Health Research and Development,BGI Genomics 5 0 1 0 0 0 0 0 0 6
Autoinflammatory diseases unit,CHU de Montpellier 3 3 0 0 0 0 0 0 0 6
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 2 1 0 0 0 0 0 0 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 3 2 0 0 0 0 0 0 5
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 3 2 0 0 0 0 0 0 0 5
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 3 0 0 0 0 0 0 0 5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 3 0 0 0 0 0 0 0 5
Wanghongyan lab,Fudan University 0 5 0 0 0 0 0 0 0 5
Nilou-Genome Lab 0 1 1 1 2 0 0 0 0 5
UCLA Clinical Genomics Center, UCLA 0 4 0 0 0 0 0 0 0 4
University of British Columbia 0 3 0 0 1 0 0 0 0 4
Department of Hematology,University of Health Sciences 0 2 0 2 0 0 0 0 0 4
Molecular Genetics and Enzymology,National Research Centre 4 0 0 0 0 0 0 0 0 4
Rare Disease Group, Clinical Genetics,Karolinska Institutet 2 0 2 0 0 0 0 0 0 4
Laboratory of Medical Genetics, INSERM 4 0 0 0 0 0 0 0 0 4
Ali Lab, Centre for Genetic Disorders,Banaras Hindu University 4 0 0 0 0 0 0 0 0 4
Biochemistry Laboratory of CDMU,Chengde Medical University 4 0 0 0 0 0 0 0 0 4
Human Genetics,Philipps Universitaet Marburg 3 0 0 0 0 0 0 0 0 3
Harry Perkins Institute of Medical Research,University of Western Australia 3 0 0 0 0 0 0 0 0 3
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 3 0 0 0 0 0 0 0 0 3
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 2 1 0 0 0 0 0 0 0 3
Center for Statistical Genetics, Columbia University 3 0 0 0 0 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 2 0 0 0 0 0 0 0 3
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 2 0 0 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 1 0 0 0 0 0 0 3
Institute for Genomic Medicine, Nationwide Children's Hospital 2 1 0 0 0 0 0 0 0 3
Breda Genetics srl 1 1 1 0 0 0 0 0 0 3
Klinisk genetik och genomik Research,Gothenburg University 1 2 0 0 0 0 0 0 0 3
Medical Genetics Institute,Shaare Zedek Medical Center 2 0 0 0 0 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 2 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 1 0 0 0 0 0 0 0 2
ITMI 2 0 0 0 0 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 0 0 0 2
Laboratory of Human Genetics,Universidade de São Paulo 2 0 0 0 0 0 0 0 0 2
Center for Human Genetics,University Hospitals Case Medical Center/Case Western Reserve University 2 0 0 0 0 0 0 0 0 2
Center for Individualized Medicine,Mayo Clinic 0 2 0 0 0 0 0 0 0 2
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 2 0 0 0 0 0 0 0 0 2
Center for Human Genetics,University of Leuven 0 2 0 0 0 0 0 0 0 2
Laboratory of Molecular Genetics,CHU RENNES 0 2 0 0 0 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 0 0 0 2
Ege University Pediatric Genetics,Ege University 2 0 0 0 0 0 0 0 0 2
Dept of Molecular Biology and Genetics,Bogazici University 1 0 0 1 0 0 0 0 0 2
Costain lab, The Hospital for Sick Children 0 0 0 0 0 0 0 0 2 2
Department of Pathology and Genetics,University of Gothenburg 0 2 0 0 0 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 0 0 0 0 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 1 0 0 0 0 0 2
Comparative, Adaptive and Functional Skeletal Biology,CCMAR - University of Algarve 2 0 0 0 0 0 0 0 0 2
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University 0 2 0 0 0 0 0 0 0 2
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 0 0 2 0 0 0 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 0 2 0 0 0 0 0 0 0 2
Clinical Genetics Branch, National Institutes of Health 0 2 0 0 0 0 0 0 0 2
Medical Genetics Laboratory, West China Hospital, Sichuan University 2 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 2
Pars Genome Lab 0 0 1 1 0 0 0 0 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 2 0 0 0 0 0 0 0 0 2
Medical Genetics Laboratory,CHRU Nancy 2 0 0 0 0 0 0 0 0 2
King Laboratory,University of Washington 1 0 0 0 0 0 0 0 0 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 0 0 1
dbVar 1 0 0 0 0 0 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 0 0 0 1
Elahi Laboratory, University of Tehran 1 0 0 0 0 0 0 0 0 1
McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University 1 0 0 0 0 0 0 0 0 1
Ahituv Lab,University of California San Francisco 1 0 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 1 0 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 0 0 0 1
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 1 0 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 0 0 0 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 0 1 0 0 0 0 0 0 0 1
Department of Genetics,Yale University 1 0 0 0 0 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 0 0 0 0 0 0 1
Nowon Eulji Medical Center, Nowon Eulji Medical Center 0 1 0 0 0 0 0 0 0 1
Research Center for Immunodeficiencies,Tehran University of Medical Sciences 0 0 0 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center,Boston Children's Hospital 0 1 0 0 0 0 0 0 0 1
Dipartimento di Medicina Molecolare e Biotecnologie Mediche,Federico II University of Naples 1 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 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 0 0 0 1
Medical Genetics Unit,Zeynep Kamil Women and Children's Hospital 1 0 0 0 0 0 0 0 0 1
Christopher A. Walsh Laboratory,Boston Children's Hospital 1 0 0 0 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 0 0 0 0 1
Department of Animal Sciences,Quaid-i-Azam University 1 0 0 0 0 0 0 0 0 1
Clinical Genetics,Charité Universitaetsmedizin Berlin 1 0 0 0 0 0 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 0 1 0 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla",Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 0 0 0 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 0 0 0 0 1
SBielas Lab, Department of Human Genetics,University of Michigan 1 0 0 0 0 0 0 0 0 1
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 0 1 0 0 0 0 0 0 0 1
Department of Pediatrics,Uniklinik RWTH Aachen 1 0 0 0 0 0 0 0 0 1
The Spine Surgery of The First Affiliated Hospital,Sun Yat-sen University 0 0 0 0 0 0 1 0 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 0 0 0 1
Medical Genetics Clinic,Mersin Women and Children Hospital 0 1 0 0 0 0 0 0 0 1
Dental Genetics Laboratory,Seoul National University School of Dentistry 1 0 0 0 0 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 0 0 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 0 0 1
Bondeson Group,Uppsala University 0 1 0 0 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 1 0 0 0 0 0 0 0 0 1
Department of Respiratory and Critical Care Medicine, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology 1 0 0 0 0 0 0 0 0 1
Department of Eugenics & Genetics,Women & Infants Hospital of Zhengzhou 1 0 0 0 0 0 0 0 0 1
Wendy Chung Laboratory,Columbia University Medical Center 0 0 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 0 0 1
Bio-informatics Data Center,China National GeneBank 1 0 0 0 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory,Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 0 0 0 0 1
Children's Hospital of Wisconsin Genetics Clinic,Medical College of Wisconsin 0 1 0 0 0 0 0 0 0 1
Jianshe Wang Lab, Department of Pediatrics, Jinshan Hospital of Fudan University 1 0 0 0 0 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1