ClinVar Miner

Variants studied for central nervous system malformation

Included ClinVar conditions (489):
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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 risk factor not provided total
3049 1334 11733 3671 2521 1 11 31 21217

Gene and significance breakdown #

Total genes and gene combinations: 479
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
CEP290 218 57 391 279 43 0 0 0 913
RELN 14 9 651 216 66 0 0 1 904
FLNA 68 31 392 239 123 0 0 3 844
RPGRIP1L 90 27 301 154 29 0 0 0 544
PCNT 41 12 318 61 104 0 0 1 515
EPG5 46 16 302 98 46 0 0 0 499
ASPM 153 20 249 42 42 0 0 0 480
CC2D2A 76 47 294 99 28 0 0 0 475
AHI1 79 18 233 78 37 0 0 0 418
FKTN 33 25 243 77 24 0 0 0 380
FKRP 41 12 190 86 11 0 0 0 337
CPLANE1 74 23 180 38 51 0 0 0 330
MKS1 47 41 168 97 11 0 0 0 327
ZNF423 1 2 185 83 30 0 0 0 297
CDON 4 0 157 37 86 0 0 0 281
QARS1 22 7 201 51 1 0 0 0 279
TSC1 5 1 157 32 84 0 0 0 277
INPP5E 26 6 172 56 33 0 0 0 274
KIF7 18 4 164 51 42 0 0 0 259
DIAPH1 10 2 158 70 17 0 0 0 257
POMT1 31 14 136 51 28 0 0 0 256
POMT2 24 8 154 52 15 0 0 2 251
LOC101927870, RELN 0 2 162 56 21 0 0 0 234
GLI2 13 7 95 63 61 0 0 0 221
CEP41 7 1 161 35 20 0 0 0 219
CSPP1 35 6 126 41 10 0 0 0 217
DAG1 8 1 155 44 10 0 0 0 217
POMGNT2 8 2 136 57 11 0 0 0 214
COL4A2 5 4 76 23 108 0 0 0 213
TMEM67 61 49 98 25 17 0 0 0 213
COL4A1 24 14 78 62 90 0 0 1 212
TMEM237 12 5 133 42 13 0 0 0 196
RAB3GAP2 6 1 131 41 22 0 0 1 193
WDR62 26 13 119 14 29 0 0 0 193
PTCH1 3 1 102 38 50 0 0 0 189
VANGL1 0 0 132 37 60 0 0 0 179
VRK1 23 14 102 41 4 0 0 1 175
ALX4 9 0 75 19 70 0 0 0 173
CDK5RAP2 19 6 126 3 21 0 0 2 171
CRPPA 30 8 84 25 13 0 0 0 159
ARFGEF2 5 2 138 4 9 0 0 1 158
MCPH1 14 8 106 8 25 0 0 0 157
ATR 6 4 111 8 28 0 0 0 155
CEP152 15 9 109 20 25 0 0 1 153
ACD 2 1 109 27 10 0 0 0 147
ROBO3 15 20 80 17 20 0 0 0 143
ADGRG1 21 6 83 13 22 0 0 0 140
POMGNT1, TSPAN1 10 72 51 12 7 0 0 0 140
KIAA0586 30 10 52 23 26 0 0 0 138
B3GALNT2 16 11 83 29 4 0 0 0 135
PAFAH1B1 89 31 10 0 2 0 0 1 128
GMPPB 15 8 67 30 4 0 0 0 123
SLC9A6 18 5 58 28 14 0 0 0 121
RAB18 5 0 80 5 29 0 0 0 119
OFD1 29 4 45 16 25 0 0 0 117
WASHC5 8 2 57 32 17 0 0 0 116
NPHP3, NPHP3-ACAD11 7 1 91 11 5 0 0 0 115
TCTN2 19 4 72 17 21 0 0 0 114
ACTB 28 18 24 31 16 0 0 0 113
KNL1 3 5 93 11 5 0 0 0 113
LARGE1 5 1 77 9 21 0 0 0 113
RAB3GAP1 26 1 57 8 19 0 0 0 111
STIL 5 3 83 6 15 0 0 0 110
TMEM216 10 17 63 28 13 0 0 0 107
SEPSECS 4 4 76 8 16 0 0 0 106
ARL13B 10 3 67 25 6 0 0 0 105
POMK 11 0 59 28 7 0 0 0 101
CENPJ 15 5 63 10 20 0 0 0 97
SLC35A2 22 9 27 23 16 0 0 0 96
C12orf57 8 2 61 21 3 0 0 0 95
TCTN1 10 1 47 27 10 0 0 0 86
RARS2 13 10 48 11 12 0 0 0 85
FOXH1 0 0 49 16 19 0 0 0 81
TMEM231 9 3 37 21 12 0 0 0 79
DCLRE1B 0 0 60 14 3 0 0 0 77
MSX2 7 1 37 6 24 0 0 0 75
TUBA1A 28 43 12 0 0 0 0 2 73
MYH11, NDE1 0 0 40 9 23 0 0 0 72
B4GAT1 2 1 41 21 5 0 0 0 69
ORC1 9 3 40 7 11 0 0 1 69
SHH 37 4 15 8 9 0 0 0 69
CASK 39 22 7 1 1 0 0 0 65
CHN1 10 1 44 5 4 0 0 1 65
AMPD2 11 3 23 20 8 0 0 0 64
ACTG1 8 9 8 17 23 0 0 0 63
NDE1 8 0 41 5 10 0 0 0 63
LAMA1 16 6 34 0 3 0 0 2 60
PIK3R2 3 3 22 15 17 0 0 1 60
VLDLR 0 0 46 8 7 0 0 0 59
CENPJ, RNF17 5 3 39 4 11 0 0 0 58
ARFGEF1, CSPP1 4 1 38 9 5 0 0 0 56
NPHP1 3 0 45 4 5 0 0 0 56
GPSM2 7 2 37 8 2 0 0 0 54
CEP104 7 1 24 5 16 0 0 0 53
SON 15 18 25 0 0 0 0 0 53
KIF11 27 16 9 0 1 0 0 0 52
ORC6 6 4 39 2 3 0 0 0 52
MED17 1 2 35 1 10 0 0 0 49
NODAL 0 0 30 6 12 0 0 0 48
ZIC2 18 6 12 5 7 0 0 0 48
EXOSC3 9 3 24 11 7 0 0 0 47
TMEM138 6 2 36 3 4 0 0 0 47
B9D1 8 3 26 9 7 0 0 0 46
TSC2 9 3 32 0 0 0 0 0 44
PTEN 26 6 12 0 0 0 0 0 43
LAMC3 5 0 20 2 13 0 0 0 40
C12orf29, CEP290 12 1 20 6 1 0 0 0 38
CDC6 1 0 27 5 5 0 0 0 38
TCTN3 3 1 14 11 9 0 0 0 38
TUBB2B 8 12 17 1 1 0 0 0 37
FLNA, LOC107988032 4 2 22 4 5 0 0 0 36
TGIF1 7 1 6 12 16 0 0 0 34
TSEN54 14 7 15 0 2 0 0 0 33
HESX1 10 1 19 5 2 0 0 0 32
MTOR 14 3 12 1 0 0 0 2 32
SIX3 12 2 8 3 9 0 0 0 32
HYLS1, PUS3 1 2 24 0 4 0 0 0 31
PSAT1 5 0 13 9 4 0 0 0 31
PTF1A 3 0 20 5 4 0 0 0 31
RXYLT1 8 4 18 2 2 0 0 0 31
ARX 24 3 2 0 0 0 0 0 29
DCX 19 9 2 1 0 0 0 0 29
ADGRG1, ADGRG3 0 0 16 1 11 0 0 0 28
FGFR1 15 8 5 0 2 0 0 0 27
LOC100507346, PTCH1 2 0 11 9 6 0 0 0 27
MACF1 6 1 19 2 0 0 0 0 27
CENPF 8 4 12 1 0 0 0 0 25
OPHN1 8 6 10 1 0 0 0 0 25
CASQ2, VANGL1 0 0 0 11 13 0 0 0 24
CIT 9 1 14 0 0 0 0 0 24
SNX14 11 3 9 0 0 0 0 0 23
KIF14 9 2 11 0 0 0 0 0 22
PCLO 1 1 19 0 0 0 0 0 21
POMGNT1 1 8 11 1 0 0 0 0 21
RTTN 6 0 14 0 1 0 0 0 21
SLC25A19 1 1 12 5 2 0 0 0 21
TUBB3 7 7 9 0 0 0 0 0 21
B9D2 7 3 3 2 5 0 0 0 20
DYNC1H1 0 13 6 1 0 0 0 0 20
WDR73 12 6 2 0 1 0 0 0 20
AKT3 5 4 10 2 0 0 0 0 19
C2CD3 7 0 9 0 1 0 0 0 17
GPAA1 10 6 6 0 0 0 0 0 17
MIF4GD-DT, SLC25A19 1 0 7 3 6 0 0 0 17
PHGDH 8 3 8 0 0 0 0 0 17
STAMBP 10 3 6 0 0 0 0 0 17
TOE1 6 13 2 0 0 0 0 0 17
ARMC9 10 11 3 0 0 0 0 0 16
B3GALNT2, TBCE 1 1 11 3 0 0 0 0 16
CEP135 5 2 7 2 0 0 0 0 16
CLASP1, RNU4ATAC 10 7 0 0 0 0 0 0 16
CLCC1, GPSM2 0 0 12 1 3 0 0 0 16
TSEN2 5 4 8 0 0 0 0 0 16
ZNF335 8 2 6 0 0 0 0 2 16
CDC45 10 6 5 0 0 0 0 0 15
EXOSC3, TRMT10B 0 0 13 1 1 0 0 0 15
FGF8 1 9 3 1 1 0 0 0 15
FOXH1, KIFC2 0 0 11 1 3 0 0 0 15
LAMB1 4 0 10 1 0 0 0 0 15
NEDD4L 4 3 9 0 0 0 0 0 15
PIK3CA 9 3 4 0 0 0 0 0 15
TELO2 7 2 8 0 0 0 0 0 15
TUBB2A 3 10 5 0 1 0 0 0 15
WDFY3 2 3 9 1 0 0 0 0 15
CDT1 6 1 3 1 3 0 0 1 14
NIN 3 2 6 1 3 0 0 0 14
NOTCH3 9 4 1 0 0 0 0 0 14
PIBF1 9 5 4 0 0 0 0 0 14
PPP2R1A 4 4 6 2 0 0 0 0 14
SLC39A8 6 4 4 0 0 0 0 0 13
TTC21B 0 0 9 1 3 0 0 0 13
ANKLE2 3 1 6 0 2 0 0 0 12
CCDC22 2 0 9 0 1 0 0 0 12
HYLS1 0 0 10 0 2 0 0 0 12
SUFU 2 0 10 0 0 0 0 0 12
TBC1D23 6 1 5 1 0 0 0 0 12
​intergenic 6 0 3 0 2 0 0 0 11
AP1S2 10 1 0 0 0 0 0 0 11
C1orf167, MTHFR 0 0 9 1 1 0 0 0 11
FLVCR2 6 0 5 0 0 0 0 0 11
MAP1B 7 4 4 0 0 0 3 0 11
PI4KA 3 1 7 0 0 0 0 0 11
TOGARAM1 10 8 1 0 0 0 0 0 11
VPS53 2 3 6 0 0 0 0 0 11
ATP6V0A2, TCTN2 0 0 1 5 8 0 0 0 10
MTHFR 1 0 6 1 1 0 1 0 10
PDE6D 2 2 2 4 1 0 0 0 10
RAC1 6 2 2 0 0 0 0 0 10
RBBP8 5 1 4 0 0 0 0 0 10
TUBB 5 3 3 0 0 0 0 1 10
CEP55 4 2 3 0 0 0 0 0 9
CHMP1A 2 1 6 0 0 0 0 0 9
COL4A1, COL4A2 0 0 0 2 7 0 0 0 9
NCAPD3 4 0 5 0 0 0 0 0 9
ARX, LOC109610631 6 1 1 0 0 0 0 0 8
BRF1 4 1 3 0 0 0 0 0 8
CCND2 7 1 1 0 0 0 0 0 8
CEP120 5 0 3 0 0 0 0 0 8
CEP63 3 2 4 0 1 0 0 0 8
CEP85L 6 1 1 0 0 0 0 0 8
CRB2 4 1 2 0 2 0 0 0 8
FIG4 5 1 2 0 0 0 0 0 8
JAM3 5 1 0 1 2 0 0 0 8
KIF2A 4 3 2 0 0 0 0 0 8
LARP7, MIR302CHG 5 2 1 0 0 0 0 0 8
OSGEP 5 0 3 0 0 0 0 0 8
RAD9B 2 6 0 0 0 0 0 0 8
TRAPPC12 3 2 4 0 0 0 0 0 8
TUBA8 0 0 8 0 0 0 0 0 8
ANGPT2, MCPH1 2 1 5 0 0 0 0 0 7
CENPE 2 2 4 0 0 0 0 0 7
CYB561A3, TMEM138 0 0 6 1 0 0 0 0 7
EXOSC8 2 0 5 0 1 0 0 1 7
KATNB1 6 0 1 0 0 0 0 0 7
KIF5C 2 0 3 2 0 0 0 1 7
LMNB1 7 0 0 0 0 0 0 0 7
ORC4 5 1 1 0 1 0 0 0 7
PARD3 3 0 0 0 0 0 4 0 7
TBC1D20 5 0 2 0 0 0 0 0 7
TMTC3 5 1 2 0 0 0 0 0 7
TP53RK 4 0 3 0 0 0 0 0 7
TUBG1 3 2 1 1 0 0 0 0 7
CLP1 1 1 5 0 0 0 0 0 6
EML1 5 1 0 0 0 0 0 0 6
FLVCR2, LOC102724153 3 1 0 0 2 0 0 0 6
KATNIP 2 4 1 0 0 0 0 0 6
LOC107372315, OSGEP 3 2 1 0 0 0 0 0 6
MFSD2A 4 1 2 0 0 0 0 0 6
WDR4 5 1 1 0 0 0 0 0 6
AMBRA1 0 0 5 0 0 0 0 0 5
B4GALT1 3 0 3 0 0 0 0 0 5
DISP1 0 1 4 0 0 0 0 0 5
ERMARD 1 0 2 1 1 0 0 0 5
LARP7 2 2 1 0 0 0 0 0 5
LMBR1, SHH, ZRS 0 0 0 0 5 0 0 0 5
NSDHL 2 0 2 0 1 0 0 0 5
OXR1 4 0 1 0 0 0 0 0 5
PLK4 2 1 2 0 0 0 0 0 5
TRAIP 2 0 2 0 1 0 0 0 5
ZNF592 0 0 3 0 2 0 0 0 5
APC2 4 0 0 0 0 0 0 0 4
ARF1 3 1 0 0 0 0 0 0 4
COLGALT1 4 0 0 0 0 0 0 0 4
CPLANE1, LOC105374727 0 0 3 1 0 0 0 0 4
CTNNA2 3 0 1 0 0 0 0 0 4
DCC 2 0 2 0 0 0 0 0 4
EMX2 4 0 0 0 0 0 0 0 4
HOXB1 3 0 1 0 0 0 0 0 4
KIAA0753 3 1 0 0 0 0 0 0 4
KLLN, PTEN 0 0 4 0 0 0 0 0 4
LAMA5 0 0 4 0 0 0 0 0 4
MAFB 4 0 0 0 0 0 0 0 4
NCAPD2 1 0 3 0 0 0 0 0 4
PHC1 1 0 3 0 0 0 0 0 4
PMM2 2 3 0 0 0 0 0 0 4
STAG2 3 0 0 1 0 0 0 0 4
TMEM218 4 0 0 0 0 0 0 0 4
TSEN34 1 1 2 0 0 0 0 0 4
WDR37 0 4 0 0 0 0 0 0 4
ATXN7L3, UBTF 1 1 2 0 0 0 0 1 3
COG4 2 0 1 0 0 0 0 0 3
COL25A1 3 0 0 0 0 0 0 0 3
DKC1 2 1 0 0 0 0 0 0 3
DNA2 1 0 2 0 0 0 0 0 3
DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN 0 0 3 0 0 0 0 0 3
GMNN 3 1 0 0 0 0 0 0 3
HECW2 0 0 0 3 0 0 0 0 3
IGBP1 1 0 2 0 0 0 0 0 3
LAGE3 3 0 0 0 0 0 0 0 3
LOC110008580, ZIC2 2 0 1 0 0 0 0 0 3
MCM5 2 0 1 0 0 0 0 0 3
MIR484, NDE1 0 0 2 1 0 0 0 0 3
NCAPH 1 0 2 0 0 0 0 0 3
NSMCE2 2 0 1 0 0 0 0 0 3
NUP37 2 1 1 0 0 0 0 0 3
ORC6, VPS35 0 0 1 1 2 0 0 0 3
PRIM1 3 0 0 0 0 0 0 0 3
SASS6 3 0 0 0 0 0 0 0 3
TBC1D7, TBC1D7-LOC100130357 2 0 1 0 0 0 0 0 3
TMEM107 3 0 0 0 0 0 0 0 3
TSEN15 3 1 0 0 0 0 0 0 3
TXNDC15 1 2 0 0 0 0 0 0 3
VPS51 3 0 0 0 0 0 0 0 3
WDR45 2 0 1 0 0 0 0 0 3
ARL3 2 0 0 0 0 0 0 0 2
ATP1A2 2 0 0 0 0 0 0 0 2
BCL11A 0 2 0 0 0 0 0 0 2
CBY1 2 0 0 0 0 0 0 0 2
CDH11 0 0 0 2 0 0 0 0 2
CELSR1 0 0 2 0 0 0 0 0 2
CLUAP1 0 2 0 0 0 0 0 0 2
CNOT1 1 0 2 0 0 0 0 0 2
COASY 2 1 0 0 0 0 0 0 2
DDX3X 0 2 0 0 0 0 0 0 2
DLC1 0 0 0 0 0 0 2 0 2
DLL1 0 0 2 0 0 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 0 0 2
EXOSC9 2 0 1 0 0 0 0 0 2
FAM149B1 2 1 0 0 0 0 0 0 2
FAM71A 0 0 0 2 0 0 0 0 2
FOXP1 0 2 0 0 0 0 0 0 2
FRMD4A 1 0 1 0 0 0 0 0 2
GAS1 0 0 2 0 0 0 0 0 2
INTS1 0 0 2 0 0 0 0 0 2
KBTBD7, LOC101929140 0 0 0 2 0 0 0 0 2
LAMA1, LOC101927188 1 1 0 0 0 0 0 0 2
LAMA2 0 0 2 0 0 0 0 0 2
LINGO4 0 0 2 0 0 0 0 0 2
LMNB2 2 0 0 0 0 0 0 0 2
LOC112533671, TSEN54 1 0 0 0 1 0 0 0 2
MRPL28 0 0 0 2 0 0 0 0 2
NUP107 2 0 0 0 0 0 0 0 2
NUP133 1 1 0 0 0 0 0 0 2
PCDH12 0 0 2 0 0 0 0 0 2
PLCB2 0 0 0 2 0 0 0 0 2
PLOD1 2 0 0 0 0 0 0 0 2
POLR3B 2 0 0 0 0 0 0 0 2
PTCH2 0 0 0 2 0 0 0 0 2
RALGAPB 0 2 0 0 0 0 0 0 2
SETD2 0 2 0 0 0 0 0 0 2
SIM1 0 0 0 2 0 0 0 0 2
SMO 1 0 1 0 0 0 0 0 2
STXBP1 0 2 0 0 0 0 0 0 2
TBXT 1 0 1 0 0 0 0 0 2
TPRKB 2 0 0 0 0 0 0 0 2
TRAPPC14 1 0 1 0 0 0 0 0 2
USH2A 0 0 2 0 0 0 0 0 2
VPS35L 2 0 0 0 0 0 0 0 2
WDR81 1 1 0 0 0 0 0 0 2
A2ML1, ACSM4, AICDA, APOBEC1, ATN1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CDCA3, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, ENO2, FAM90A1, FOXJ2, GDF3, GNB3, LPCAT3, LRRC23, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, P3H3, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, SPSB2, TPI1, USP5, ZNF705A 0 0 1 0 0 0 0 0 1
ABAT, ABCA3, ABCC1, ABCC6, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ADCY9, AHSP, ALDOA, ALG1, AMDHD2, ANKS3, ANKS4B, APOBR, AQP8, ARHGAP17, ARL6IP1, ARMC5, ASPHD1, ATF7IP2, ATP2A1, ATP6V0C, ATXN2L, BAIAP3, BCAR4, BCKDK, BCL7C, BFAR, BICDL2, BMERB1, BOLA2, BOLA2B, BRICD5, C16orf54, C16orf72, C16orf82, C16orf89, C16orf90, C16orf91, C16orf92, C16orf96, CACNG3, CARHSP1, CASKIN1, CCDC154, CCDC189, CCNF, CCP110, CD19, CD2BP2, CDIP1, CDIPT, CDR2, CEMP1, CEP20, CHP2, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLEC19A, CLN3, CLUAP1, COG7, COQ7, CORO1A, CORO7, CORO7-PAM16, COX6A2, CPPED1, CRAMP1, CREBBP, CRYM, CTF1, DCTN5, DCTPP1, DCUN1D3, DEXI, DNAAF8, DNAH3, DNAJA3, DNASE1, DNASE1L2, DOC2A, E4F1, EARS2, ECI1, EEF2K, EEF2KMT, EIF3C, EIF3CL, ELOB, EME2, EMP2, ERCC4, ERI2, ERN2, FAHD1, FBRS, FBXL19, FLYWCH1, FLYWCH2, FUS, GDE1, GDPD3, GFER, GGA2, GLIS2, GLYR1, GNPTG, GP2, GPR139, GPRC5B, GRIN2A, GSG1L, GSPT1, GTF3C1, HAGH, HCFC1R1, HIRIP3, HMOX2, HS3ST2, HS3ST4, HS3ST6, HSD3B7, IFT140, IGFALS, IGSF6, IL21R, IL27, IL32, IL4R, INO80E, IQCK, ITGAD, ITGAL, ITGAM, ITGAX, ITPRIPL2, JPT2, KAT8, KATNIP, KCTD13, KCTD5, KDM8, KIF22, KNOP1, KREMEN2, LAT, LCMT1, LDAF1, LITAF, LYRM1, MAPK3, MAPK8IP3, MARF1, MAZ, MEFV, MEIOB, METTL22, METTL9, MGRN1, MIR1225, MIR193B, MIR365A, MLST8, MMP25, MOSMO, MPV17L, MRPS34, MRTFB, MSRB1, MTRNR2L4, MVP, MYH11, MYLPF, NAA60, NAGPA, NDE1, NDUFAB1, NDUFB10, NFATC2IP, NLRC3, NME3, NMRAL1, NOMO1, NOMO2, NOMO3, NOXO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPW, NSMCE1, NTAN1, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, NUPR1, OR1F1, OR2C1, ORAI3, OTOA, PAGR1, PALB2, PAM16, PAQR4, PARN, PDILT, PDPK1, PDXDC1, PDZD9, PGP, PHKG2, PKD1, PKMYT1, PLA2G10, PLK1, PMM2, POLR3E, PPL, PPP4C, PRKCB, PRM1, PRM2, PRM3, PRR14, PRRT2, PRSS21, PRSS22, PRSS27, PRSS33, PRSS36, PRSS41, PRSS53, PRSS8, PTX4, PYCARD, PYDC1, QPRT, RAB26, RABEP2, RBBP6, RBFOX1, RMI2, RNF151, RNF40, RNPS1, ROGDI, RPL3L, RPS15A, RPS2, RRN3, RSL1D1, RUSF1, SBK1, SCNN1B, SCNN1G, SDR42E2, SEC14L5, SEPHS2, SEPTIN1, SEPTIN12, SETD1A, SEZ6L2, SGF29, SH2B1, SHISA9, SLC5A11, SLC5A2, SLC9A3R2, SLX1A, SLX1B, SLX4, SMG1, SMIM22, SNHG9, SNN, SNX29, SOCS1, SPN, SPNS1, SPSB3, SRCAP, SRL, SRRM2, STX1B, STX4, SULT1A1, SULT1A2, SULT1A3, SULT1A4, SYNGR3, SYT17, TAOK2, TBC1D10B, TBC1D24, TBL3, TBX6, TEDC2, TEKT5, TELO2, TFAP4, TGFB1I1, THOC6, THUMPD1, TIGD7, TLCD3B, TMC5, TMC7, TMEM114, TMEM186, TMEM204, TMEM219, TNFRSF12A, TNFRSF17, TNP2, TNRC6A, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D, TPSAB1, TPSB2, TPSD1, TRAF7, TRAP1, TRIM72, TSC2, TSR3, TUFM, TVP23A, TXNDC11, UBALD1, UBE2I, UBFD1, UBN1, UMOD, UNKL, UQCRC2, USP31, USP7, VASN, VKORC1, VPS35L, VWA3A, XPO6, XYLT1, YPEL3, ZC3H7A, ZG16, ZG16B, ZKSCAN2, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF267, ZNF48, ZNF500, ZNF597, ZNF598, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF720, ZNF747, ZNF75A, ZNF764, ZNF768, ZNF771, ZNF785, ZNF843, ZP2, ZSCAN10, ZSCAN32 1 0 0 0 0 0 0 0 1
ABCA4 0 0 1 0 0 0 0 0 1
ABCC4, CLDN10, CLYBL, DCT, DNAJC3, DOCK9, DZIP1, FARP1, FGF14, GGACT, GPC5, GPC6, GPR18, GPR180, GPR183, HS6ST3, IPO5, ITGBL1, MBNL2, METTL21C, MIR17, MIR17HG, MIR18A, MIR19A, MIR19B1, MIR20A, MIR92A1, NALCN, OXGR1, PCCA, RAP2A, RNF113B, SLC15A1, SOX21, STK24, TGDS, TM9SF2, TMTC4, TPP2, UBAC2, UGGT2, ZIC2, ZIC5 1 0 0 0 0 0 0 0 1
ABL1, AIF1L, EXOSC2, FAM78A, FIBCD1, LAMC3, NUP214, PLPP7, POMT1, PRDM12, PRRC2B, QRFP 0 0 1 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 1 0 0 0 0 0 0 0 1
ACRBP, ATN1, C12orf57, C1R, C1RL, C1S, CD27, CD4, CDCA3, CHD4, CLSTN3, COPS7A, EMG1, ENO2, GAPDH, GNB3, GPR162, IFFO1, ING4, LAG3, LPAR5, LPCAT3, LRRC23, LTBR, MIR141, MIR200C, MLF2, MRPL51, NCAPD2, NOP2, P3H3, PEX5, PHB2, PIANP, PTMS, PTPN6, RBP5, SCNN1A, SPSB2, TAPBPL, TNFRSF1A, TPI1, USP5, VAMP1, ZNF384 0 0 1 0 0 0 0 0 1
ACSM4, APOBEC1, ATN1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CDCA3, CLEC4C, CLSTN3, DPPA3, EMG1, ENO2, FOXJ2, GDF3, GNB3, LPCAT3, LRRC23, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, P3H3, PEX5, PHB2, PTPN6, RBP5, SLC2A14, SLC2A3, SPSB2, TPI1, USP5 0 0 1 0 0 0 0 0 1
ADAMTS8 0 0 1 0 0 0 0 0 1
ADGRG2, MAP3K15, PDHA1, SH3KBP1 0 0 1 0 0 0 0 0 1
AGPAT2, C9orf163, EGFL7, ENTR1, INPP5E, MIR126, NOTCH1, PMPCA, SEC16A 0 0 1 0 0 0 0 0 1
AHDC1 0 1 0 0 0 0 0 0 1
AIPL1 0 0 0 0 1 0 0 0 1
AKT3, C1orf100, CEP170, LINC01347, LINC02774, LOC110120698, LOC111828504, LOC112577566, MIR4677, PLD5, SDCCAG8, ZBTB18 1 0 0 0 0 0 0 0 1
AMH 0 0 0 1 0 0 0 0 1
AMT, C3orf62, C3orf84, CCDC71, DAG1, GPX1, IHO1, KLHDC8B, LAMB2, NICN1, RHOA, TCTA, USP4 1 0 0 0 0 0 0 0 1
ANKHD1, ANKHD1-EIF4EBP3, APBB3, BRD8, CD14, CDC23, CDC25C, CTNNA1, CXXC5, CYSTM1, DIAPH1, DNAJC18, DND1, ECSCR, EGR1, EIF4EBP3, ETF1, FAM13B, FAM53C, GFRA3, HARS1, HARS2, HBEGF, HNRNPA0, HSPA9, IGIP, IK, KDM3B, KIF20A, KLHL3, LRRTM2, MATR3, MYOT, MZB1, NDUFA2, NME5, NRG2, PAIP2, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PFDN1, PKD2L2, PROB1, PSD2, PURA, REEP2, SIL1, SLC23A1, SLC25A2, SLC35A4, SLC4A9, SNHG4, SPATA24, SPOCK1, SRA1, STING1, TAF7, TMCO6, UBE2D2, VTRNA1-1, VTRNA1-2, VTRNA1-3, WDR55, WNT8A, ZMAT2 0 0 1 0 0 0 0 0 1
ANKMY2, BZW2, CRPPA, LRRC72, SOSTDC1 1 0 0 0 0 0 0 0 1
APAF1 0 0 1 0 0 0 0 0 1
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24 0 0 1 0 0 0 0 0 1
ARID1A 0 1 0 0 0 0 0 0 1
ARID1B 0 1 0 0 0 0 0 0 1
ARL13B, DHFR2 0 0 1 0 0 0 0 0 1
ARL13B, DHFR2, NSUN3, PROS1, STX19 0 0 1 0 0 0 0 0 1
ARL13B, PROS1, STX19 0 0 1 0 0 0 0 0 1
ARSG, PRKAR1A, WIPI1 0 0 0 0 0 1 0 0 1
ASPA, CLUH, LOC100288728, METTL16, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR1G1, OR3A1, OR3A2, OR3A3, PAFAH1B1, RAP1GAP2, SPATA22, TRPV3 1 0 0 0 0 0 0 0 1
ATAD3A 1 0 0 0 0 0 0 0 1
ATRIP, ATRIP-TREX1 1 0 0 0 0 0 0 0 1
AUTS2 0 1 0 0 0 0 0 0 1
AXIN1 1 0 0 0 0 0 0 0 1
BAG6 0 0 1 0 0 0 0 0 1
BCDIN3D 0 0 0 1 0 0 0 0 1
BCOR 0 0 1 0 0 0 0 0 1
BOC 0 0 1 0 0 0 0 0 1
BORCS5 0 1 0 0 0 0 0 0 1
BRAF 1 1 0 0 0 0 0 0 1
BSN 0 0 1 0 0 0 0 0 1
C12orf29, C12orf50, CEP290, KITLG, TMTC3 1 0 0 0 0 0 0 0 1
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 0 0 0 1
C2CD6, MPP4, TMEM237 1 0 0 0 0 0 0 0 1
C2CD6, TMEM237 1 0 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 0 1
CALM3, DACT3, FKRP, GNG8, PRKD2, PTGIR, STRN4 0 0 1 0 0 0 0 0 1
CAV3 0 0 1 0 0 0 0 0 1
CCDC120, GRIPAP1, KCND1, OTUD5, PIM2, PQBP1, PRAF2, SLC35A2, TFE3, WDR45 0 0 1 0 0 0 0 0 1
CCDC172 0 0 1 0 0 0 0 0 1
CDK5 1 0 0 0 0 0 0 0 1
CDK6 1 0 0 0 0 0 0 0 1
CDX2 0 1 0 0 0 0 0 0 1
CEP295 0 0 1 0 0 0 0 0 1
CLUH, METTL16, PAFAH1B1, RAP1GAP2 1 0 0 0 0 0 0 0 1
CLYBL, TM9SF2, UBAC2, ZIC2, ZIC5 1 0 0 0 0 0 0 0 1
COLGALT1, NIBAN3 0 1 0 0 0 0 0 0 1
COPB2 1 0 0 0 0 0 0 0 1
COPS5, CSPP1, PPP1R42 0 0 1 0 0 0 0 0 1
COQ8A 0 0 0 0 1 0 0 0 1
CRYGD, LOC100507443 0 0 0 1 0 0 0 0 1
CUL4B 0 1 0 0 0 0 0 0 1
DHX37 0 1 0 0 0 0 0 0 1
DNAI3 0 1 0 0 0 0 0 0 1
DPH1 0 1 0 0 0 0 0 0 1
DPH1, HIC1, INPP5K, METTL16, MIR132, MIR212, MIR22, MNT, MYO1C, OVCA2, PAFAH1B1, PITPNA, PRPF8, RILP, RPA1, RTN4RL1, SCARF1, SERPINF1, SERPINF2, SGSM2, SLC43A2, SMG6, SMYD4, SRR, TLCD2, TSR1, WDR81 1 0 0 0 0 0 0 0 1
DPYSL5 0 0 1 0 0 0 0 0 1
DUOX2 0 0 0 1 0 0 0 0 1
EBF3 0 1 0 0 0 0 0 0 1
EHMT1 1 0 0 0 0 0 0 0 1
EMG1 1 0 0 0 0 0 0 0 1
ENG 0 0 0 0 1 0 0 0 1
ENTPD1 0 0 1 0 0 0 0 0 1
ERAS, GATA1, GLOD5, HDAC6, PCSK1N, PQBP1, SLC35A2, SUV39H1, TIMM17B, WAS 0 0 1 0 0 0 0 0 1
EVC2 0 1 0 0 0 0 0 0 1
EXOC3L2 0 1 0 0 0 0 0 0 1
EXOC4, LOC101928861 0 1 0 0 0 0 0 0 1
EXOC8 0 0 1 0 0 0 0 0 1
FAM166B 0 0 1 0 0 0 0 0 1
FAM220A, RAC1 1 0 0 0 0 0 0 0 1
FHL1, SLC9A6 0 0 1 0 0 0 0 0 1
FKRP, STRN4 0 0 1 0 0 0 0 0 1
FKTN, FSD1L 1 0 0 0 0 0 0 0 1
FLG 1 0 0 0 0 0 0 0 1
FNTA, HOOK3, MIR4469, POMK, RNF170, THAP1 0 0 1 0 0 0 0 0 1
FOXG1 0 1 0 0 0 0 0 0 1
FOXP3 0 1 0 0 0 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 0 0 0 1
FZD3 0 1 0 0 0 0 0 0 1
GH-LCR, SCN4A 0 0 0 1 0 0 0 0 1
GRIN1 0 0 1 0 0 0 0 0 1
HSPB7 0 0 0 1 0 0 0 0 1
IFT172 1 0 0 0 0 0 0 0 1
INPP5E, SEC16A 0 0 1 0 0 0 0 0 1
INTS6L 0 0 1 0 0 0 0 0 1
ITGB1 0 0 0 0 0 0 1 0 1
KCTD3 0 1 0 0 0 0 0 0 1
KDM6B 0 0 1 0 0 0 0 0 1
KIAA1109 0 1 0 0 0 0 0 0 1
KIF1A 0 0 1 0 0 0 0 0 1
KIF4A 0 1 0 0 0 0 0 0 1
KIF7, TICRR 0 0 0 1 0 0 0 0 1
KMT2D 1 0 0 0 0 0 0 0 1
L1CAM 0 1 0 0 0 0 0 0 1
LARP7, MIR302CHG, MIR302D, MIR367 1 0 0 0 0 0 0 0 1
LOC102724058, SCN1A 1 0 0 0 0 0 0 0 1
LRRC34 0 0 1 0 0 0 0 0 1
MAGED2 0 1 0 0 0 0 0 0 1
MATN4 0 1 0 0 0 0 0 0 1
MCPH1, MCPH1-DT 1 0 0 0 0 0 0 0 1
MICALL2 1 0 0 0 0 0 0 0 1
MID1 1 0 0 0 0 0 0 0 1
MIR6501, SON 0 1 0 0 0 0 0 0 1
MT-CYB 0 0 1 0 0 0 0 0 1
MTR 0 0 1 0 0 0 0 0 1
NBN 1 0 0 0 0 0 0 0 1
NKX2-5 0 0 0 0 1 0 0 0 1
NPIPA5 0 0 1 0 0 0 0 0 1
NR2F1 0 0 1 0 0 0 0 0 1
PALS1 1 0 0 0 0 0 0 0 1
PDGFRB 0 1 0 0 0 0 0 0 1
PDPR 0 0 0 1 0 0 0 0 1
PEX1 0 0 1 0 0 0 0 0 1
PKD2 0 0 0 0 1 0 0 0 1
PLA2G6 1 0 0 0 0 0 0 0 1
PPP1CB 0 1 0 0 0 0 0 0 1
RARS2, SLC35A1 0 0 0 0 1 0 0 0 1
RCOR1 0 1 0 0 0 0 0 0 1
RHEB 0 1 0 0 0 0 0 0 1
RNU4ATAC 0 1 0 0 0 0 0 0 1
RPE65 0 0 0 0 1 0 0 0 1
RPGRIP1 0 0 1 0 0 0 0 0 1
RPS6 0 0 1 0 0 0 0 0 1
SCN3A 0 1 0 0 0 0 0 0 1
SCRIB 0 1 0 0 0 0 0 0 1
SEMA6B 0 0 1 0 0 0 0 0 1
SETD5 0 1 0 0 0 0 0 0 1
SLC26A4 0 0 0 0 1 0 0 0 1
SLC30A7 1 0 0 0 0 0 0 0 1
SMAD6 0 0 1 0 0 0 0 0 1
SNORD118, TMEM107 0 0 1 0 0 0 0 0 1
SOS1 0 0 0 0 1 0 0 0 1
SPTAN1 0 1 0 0 0 0 0 0 1
TMEM17 0 0 1 0 0 0 0 0 1
TMEM47 0 1 0 0 0 0 0 0 1
TMLHE 0 1 0 0 0 0 0 0 1
TRIM36 1 0 0 0 0 0 0 0 1
TTC6 0 0 1 0 0 0 0 0 1
TUBA3E 0 1 0 0 0 0 0 0 1
WDPCP 0 0 1 0 0 0 0 0 1
WFS1 1 0 0 0 0 0 0 0 1
ZNF787 0 0 1 0 0 0 0 0 1
ZRSR2 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 227
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Invitae 862 210 5565 2691 1031 0 0 0 10359
Illumina Clinical Services Laboratory,Illumina 2 5 4627 853 1490 0 0 0 6774
OMIM 1134 0 10 0 0 0 0 0 1144
Baylor Genetics 144 47 576 1 0 0 0 0 768
Genetic Services Laboratory, University of Chicago 329 99 339 0 0 0 0 0 767
Natera, Inc. 18 6 275 40 60 0 0 0 399
Fulgent Genetics,Fulgent Genetics 55 23 312 1 0 0 0 0 391
GeneReviews 232 0 0 0 71 0 0 0 303
UW Hindbrain Malformation Research Program,University of Washington 281 13 0 0 0 0 0 0 294
Counsyl 7 103 77 8 0 0 0 0 195
Centre for Mendelian Genomics,University Medical Centre Ljubljana 42 37 96 5 5 0 0 0 185
Mendelics 38 31 20 18 60 0 0 0 167
University of Washington Center for Mendelian Genomics, University of Washington 3 131 16 0 0 0 0 0 150
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 17 109 0 0 0 128
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 2 118 0 0 0 0 0 0 120
Institute of Human Genetics, University of Leipzig Medical Center 25 41 45 6 1 0 0 0 118
Genomic Research Center, Shahid Beheshti University of Medical Sciences 21 11 70 4 0 0 0 0 106
Service de Génétique Moléculaire,Hôpital Robert Debré 33 41 4 18 0 0 0 0 96
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 1 0 21 73 0 0 0 96
Broad Institute Rare Disease Group, Broad Institute 19 25 35 3 11 0 0 0 93
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 13 28 40 0 0 0 82
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 20 29 21 0 0 0 0 0 70
SIB Swiss Institute of Bioinformatics 8 26 13 0 5 0 0 0 52
Institute of Human Genetics, Klinikum rechts der Isar 34 15 0 0 0 0 0 0 49
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 9 30 8 1 0 0 0 0 48
Athena Diagnostics Inc 0 0 0 0 38 0 0 0 38
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 8 13 16 1 0 0 0 0 38
Muenke lab,National Institutes of Health 18 7 9 0 3 0 0 0 37
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 6 3 28 0 0 0 0 0 37
GenomeConnect, ClinGen 0 0 0 0 0 0 0 30 30
New York Genome Center 2 4 24 0 0 0 0 0 30
Claritas Genomics 8 15 6 0 0 0 0 0 29
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 11 18 0 0 0 0 0 0 29
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 9 7 9 2 0 0 0 0 27
CHU Sainte-Justine Research Center,University of Montreal 0 0 6 20 0 0 0 0 26
Dobyns Lab,Seattle Children's Research Institute 17 4 4 0 0 0 0 0 25
Genomic Medicine Lab, University of California San Francisco 6 6 11 0 0 0 0 0 23
Laboratory of Molecular Genetics,CHU RENNES 0 16 6 0 0 0 0 0 22
Génétique des Maladies du Développement, Hospices Civils de Lyon 10 8 4 0 0 0 0 0 22
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 13 2 7 0 0 0 0 0 22
Undiagnosed Diseases Network,NIH 8 8 5 0 0 0 0 0 21
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 8 13 0 0 0 0 0 0 21
Knight Diagnostic Laboratories, Oregon Health and Sciences University 6 4 9 1 0 0 0 0 20
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 11 10 0 0 1 0 0 0 20
Mayo Clinic Laboratories, Mayo Clinic 4 2 13 0 0 0 0 0 19
Johns Hopkins Genomics, Johns Hopkins University 6 8 5 0 0 0 0 0 19
Integrated Genetics/Laboratory Corporation of America 12 4 0 0 0 0 0 0 16
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 10 6 0 0 0 0 0 0 16
Department of Genetics,Robert DEBRE University Hospital 15 0 0 0 0 0 0 0 15
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 13 1 0 0 0 0 0 14
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 5 7 2 0 0 0 0 0 14
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 11 2 0 0 0 0 0 0 13
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 2 9 0 0 0 12
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 12 0 0 0 0 0 0 0 12
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 3 3 5 1 0 0 0 0 12
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 6 0 6 0 0 0 0 0 12
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 7 5 0 0 0 0 0 0 12
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 10 1 0 0 0 0 0 12
Institute of Medical Genetics,University of Zurich 8 3 1 0 0 0 0 0 12
Genetics Institute, Tel Aviv Sourasky Medical Center 4 8 0 0 0 0 0 0 12
Centogene AG - the Rare Disease Company 4 7 0 0 0 0 0 0 11
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 4 2 5 0 0 0 0 0 11
UCLA Clinical Genomics Center, UCLA 2 9 0 0 0 0 0 0 11
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 6 2 3 0 0 0 0 0 11
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 11 0 0 0 0 0 0 0 11
Kasturba Medical College, Manipal University 3 6 2 0 0 0 0 0 11
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 2 7 0 0 0 0 0 11
Clinical Genetics laboratory, University of Goettingen 2 4 4 0 0 0 0 0 10
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 9 0 0 0 0 0 0 10
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 7 0 0 0 0 0 0 10
Nilou-Genome Lab 0 0 0 1 9 0 0 0 10
Center of Genomic medicine, Geneva,University Hospital of Geneva 8 1 0 0 0 0 0 0 9
NIHR Bioresource Rare Diseases, University of Cambridge 4 6 0 0 0 0 0 0 9
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 4 5 0 0 0 0 0 9
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 5 1 3 0 0 0 0 0 9
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 5 3 0 0 0 0 0 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 4 0 0 0 0 0 0 8
Rare Disease Group, Clinical Genetics,Karolinska Institutet 5 3 0 0 0 0 0 0 8
Finnell Lab,Baylor College of Medicine 2 6 0 0 0 0 0 0 8
Institute of Human Genetics,Cologne University 2 1 3 1 0 0 0 0 7
Hadassah Hebrew University Medical Center 0 7 0 0 0 0 0 0 7
Beijing Municipal Key Laboratory,Capital Institute of Pediatrics 3 0 0 0 0 0 4 0 7
Department of Genetics,Sultan Qaboos University Hospital, Oman 5 0 2 0 0 0 0 0 7
Sayer Lab, Translational and Clinical Research Institute,Newcastle Unversity 6 1 0 0 0 0 0 0 7
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 4 0 2 0 0 0 0 0 6
Engle Laboratory,Boston Children's Hospital 5 1 0 0 0 0 0 0 6
Division of Human Genetics,Children's Hospital of Philadelphia 1 2 3 0 0 0 0 0 6
Center for Human Genetics,University of Leuven 6 0 0 0 0 0 0 0 6
Reproductive Health Research and Development,BGI Genomics 3 1 1 1 0 0 0 0 6
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 6 0 0 0 0 0 6
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 4 1 0 0 0 0 0 0 5
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 1 2 0 0 0 0 0 5
Human Molecular Genetics and Metabolic Disorders,Pakistan Institute for Engineering and Applied Science (PIEAS) 5 0 0 0 0 0 0 0 5
Laboratorio di Genetica e Neuroscienze,Istituto Giannina Gaslini 0 0 1 0 0 0 4 0 5
Kids Research, The Children's Hospital at Westmead 1 2 2 0 0 0 0 0 5
Cavalleri Lab, Royal College of Surgeons in Ireland 2 2 1 0 0 0 0 0 5
Hongyan Wang Laboratory,Fudan University 0 0 5 0 0 0 0 0 5
Laboratory of Genetics in Ophthalmology,Institut Imagine 4 0 1 0 0 0 0 0 5
Institute of Human Genetics,University Hospital Ulm 4 0 0 0 0 0 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 4 0 0 0 0 0 0 4
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 4 0 0 0 0 0 0 4
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 0 3 0 0 0 0 0 4
Ege University Pediatric Genetics,Ege University 2 0 2 0 0 0 0 0 4
SBielas Lab, Department of Human Genetics,University of Michigan 4 0 0 0 0 0 0 0 4
Clinical Genetics Group,University of Otago 4 0 0 0 0 0 0 0