ClinVar Miner

Variants studied for cataract (disease)

Included ClinVar conditions (230):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
3451 1575 7030 2739 1531 2 51 15298

Gene and significance breakdown #

Total genes and gene combinations: 209
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
COL4A5 851 141 57 10 26 0 1 1053
CEP290 198 46 387 273 43 0 0 887
COL4A4 46 117 286 62 52 0 0 535
NSD1 257 67 187 36 4 0 0 534
EPG5 46 16 302 98 46 0 0 499
RPGRIP1L 78 19 252 147 28 0 0 494
MAN2B1 70 88 194 176 35 0 0 479
GALT 255 103 115 53 40 0 0 457
GLA, RPL36A-HNRNPH2 191 103 121 68 13 1 3 452
COL4A3, MFF-DT 58 151 208 32 53 0 0 449
CC2D2A 48 41 290 92 27 0 0 448
PEX6 54 45 170 137 31 0 1 401
DHCR7 77 97 153 100 29 0 2 372
PEX1 55 88 149 103 27 0 0 371
MKS1 36 38 168 97 11 0 0 316
WT1 18 4 178 100 10 0 0 310
LOC107982234, WT1 4 1 211 69 8 0 0 293
FYCO1 10 2 136 28 62 0 0 233
PEX10 25 21 114 81 16 0 0 227
CLPB 29 3 111 50 14 0 0 200
PEX26 11 2 134 26 36 0 0 197
PEX7 29 44 84 52 12 0 1 195
DM1, DMPK, LOC107075317, LOC109461477 179 0 0 0 15 1 0 193
RAB3GAP2 3 4 132 41 21 0 1 192
AGPS 4 1 135 18 30 0 0 183
PEX2 14 9 108 42 23 0 0 183
COL2A1 38 14 71 25 32 0 0 180
PEX12 30 32 85 35 13 0 0 178
COL11A1 5 6 105 34 24 0 1 175
TMEM67 25 36 91 23 14 0 0 165
GATAD1, PEX1 22 31 85 33 8 0 1 155
PEX13 6 1 127 14 10 0 0 154
FAM126A 5 1 97 22 29 0 1 153
GALK1 18 20 63 59 11 0 0 146
EPHA2 7 2 45 22 61 0 0 131
PEX19 2 3 93 22 21 0 0 131
GJA3 11 0 74 3 40 0 0 126
PEX14 2 1 79 35 20 0 0 126
PEX5 4 0 93 10 14 0 0 121
PEX16 4 2 82 25 12 0 1 118
NPHP3, NPHP3-ACAD11 7 1 91 11 5 0 0 115
TCTN2 9 4 72 15 19 0 0 105
OCRL 32 8 14 8 6 0 32 98
ALDH18A1 6 1 52 24 8 0 1 92
GALE 12 5 58 17 6 0 0 86
SIL1 15 2 48 14 13 0 0 85
TDRD7 4 1 66 4 13 0 0 84
GNPAT 9 2 55 5 13 0 0 80
PXDN 11 0 15 16 35 0 0 77
ELP4, PAX6 2 0 29 5 37 0 0 73
RECQL4 11 5 57 0 0 0 0 73
TMEM231 8 2 32 21 10 0 0 71
GJA8 15 2 35 9 11 0 0 70
NHS 28 2 11 8 21 0 0 70
PITX2 0 0 38 0 25 0 0 63
AGK 13 6 33 7 7 0 0 62
TMEM216 5 13 38 4 5 0 0 61
HSF4 6 2 26 8 18 0 1 60
MIP 7 1 26 9 18 0 0 60
PEX3 3 2 42 4 6 0 0 57
TCTN1 4 1 21 22 8 0 0 56
PHYH 3 4 33 10 7 0 0 53
GNAS 34 10 7 0 1 0 0 51
FTL 15 0 25 3 7 0 0 50
NFIX 18 9 9 10 2 0 0 48
ARSL 14 3 16 3 15 0 0 47
BFSP2 2 0 19 9 19 0 0 46
CRYBB3 2 0 35 6 5 0 0 45
EBP 27 15 3 0 0 0 0 44
BEST1 4 0 17 9 13 0 0 43
LIM2 3 0 38 3 3 0 0 43
AGK, DENND11 1 2 29 4 5 0 0 41
B9D1 3 1 25 9 7 0 0 40
CRYAA 8 0 20 3 9 0 0 39
C12orf29, CEP290 12 1 19 6 1 0 0 38
CRYGD, LOC100507443 8 0 10 4 16 0 0 37
MAF 14 2 9 6 2 0 0 33
ITPR1 14 3 12 0 0 0 1 28
BFSP1 5 1 7 5 9 0 0 27
CRYBA4 3 1 10 2 7 0 0 23
MED25 2 3 6 3 9 0 0 23
PEX10, RER1 0 0 20 2 1 0 0 23
CRYGC, LOC100507443 7 0 7 4 5 0 0 22
MIPEP 7 5 11 0 0 0 0 22
BEST1, FTH1 0 0 2 13 6 0 0 21
COL4A3 6 2 10 0 2 0 0 20
CRYAB 4 0 8 2 6 0 0 20
CRYBA4, CRYBB1 1 0 17 1 2 0 0 20
CRYBB2 3 5 10 1 2 0 0 20
GCNT2 9 0 4 1 6 0 0 20
NDP 17 2 0 0 0 0 0 19
FTL, GYS1 0 0 0 16 2 0 0 18
PAX6 1 0 5 4 8 0 0 18
NSDHL 12 4 0 0 1 0 0 17
VIM 3 0 7 3 5 0 0 17
WFS1 1 0 16 0 0 0 0 17
B9D2 4 2 3 2 5 0 0 16
CRYBB1 4 0 11 1 0 0 0 16
CRYBA1 6 2 5 2 1 0 0 15
IKBKG 15 0 0 0 0 0 0 15
FBXL8, HSF4 0 0 5 2 6 0 0 13
DMPK 7 1 2 0 2 0 0 12
GLA 12 0 0 0 0 0 0 12
IARS2 6 0 5 1 0 0 0 12
PEX10, PLCH2 3 2 4 4 0 0 0 12
PEX13, PUS10 0 0 10 2 0 0 0 12
ATP6V0A2, TCTN2 0 0 1 5 6 0 0 10
COL9A2 1 2 5 1 0 0 1 10
GALK1, ITGB4 0 0 4 2 5 0 0 10
CRYGS 3 0 4 0 2 0 0 9
ANAPC1 3 4 1 0 1 0 0 8
APC2 1 0 7 0 0 0 0 8
COL9A1 3 0 5 0 0 0 0 8
GFER 5 3 1 0 0 0 2 8
KIF14 2 1 5 0 0 0 0 8
SLC33A1 8 0 0 0 0 0 0 8
XYLT2 2 3 1 0 1 0 0 7
CRYGB, LOC100507443 2 0 2 0 3 0 0 6
CTDP1 1 0 0 1 4 0 0 6
GBF1, PITX3 2 0 4 0 0 0 0 6
LSS 4 0 2 0 0 0 0 6
CHMP4B 2 0 1 1 1 0 0 5
GALM 5 0 0 0 0 0 0 5
LOC113788293, PEX2 0 0 5 0 0 0 0 5
SLC25A4 4 0 1 0 0 0 0 5
ATOH7 4 0 0 0 0 0 0 4
COL4A5, COL4A6 3 1 0 0 0 0 0 4
FOXE3, LINC01389 4 0 0 0 0 0 0 4
LOC106014249, PAX6 0 0 4 0 0 0 0 4
NACC1 1 1 3 0 0 0 0 4
SIPA1L3 1 0 3 0 0 0 0 4
​intergenic 2 0 0 0 1 0 0 3
B3GALT6 3 0 0 0 0 0 0 3
DNMBP 3 0 0 0 0 0 0 3
MSMO1 3 0 0 0 0 0 0 3
PIK3C2A 3 1 0 0 0 0 0 3
TMEM107 3 0 0 0 0 0 0 3
TXNDC15 1 2 0 0 0 0 0 3
COPB1 0 2 0 0 0 0 0 2
DHCR7, NADSYN1 0 0 1 1 1 0 0 2
DM1, DMPK, LOC107075317 0 0 1 1 0 0 0 2
EPM2A 0 0 2 0 0 0 0 2
GALE, HMGCL 0 0 0 1 1 0 0 2
LDLR 0 0 0 0 2 0 0 2
LOC106707172, LOC107982234, WT1 2 0 0 0 0 0 0 2
SLC16A12 1 0 1 0 0 0 0 2
TMEM218 2 0 0 0 0 0 0 2
UNC45B 1 0 1 0 0 0 0 2
XDH 0 0 2 0 0 0 0 2
ACTRT1, DCAF12L1, LOC113875008, OCRL, PRR32, SMARCA1 1 0 0 0 0 0 0 1
AGK, AGK-DT 0 0 1 0 0 0 0 1
ALMS1 0 1 0 0 0 0 0 1
ANO3, ANO5, ARL14EP, BBOX1, BDNF, CCDC179, CCDC34, CCDC73, CSTF3, DCDC1, DEPDC7, DNAJC24, EIF3M, ELP4, FANCF, FIBIN, FSHB, GAS2, IMMP1L, KCNA4, KIF18A, LGR4, LIN7C, LINC00294, LUZP2, METTL15, MIR610, MPPED2, MUC15, NELL1, PAX6, PRRG4, QSER1, RCN1, SLC17A6, SLC5A12, SVIP, TCP11L1, WT1 1 0 0 0 0 0 0 1
ARL10, B4GALT7, CDHR2, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LMAN2, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PROP1, PRR7, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, THOC3, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346 1 0 0 0 0 0 0 1
ARL14EP, CCDC73, DCDC1, DNAJC24, EIF3M, ELP4, FSHB, IMMP1L, KCNA4, MPPED2, PAX6, RCN1, WT1 1 0 0 0 0 0 0 1
ARSD, ARSL 1 0 0 0 0 0 0 1
ATG4A, COL4A5, COL4A6 0 1 0 0 0 0 0 1
C12orf29, C12orf50, CEP290, KITLG, TMTC3 1 0 0 0 0 0 0 1
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 1 0 0 0 0 0 0 1
CASP10 0 0 0 0 1 0 0 1
CCDC172 0 0 1 0 0 0 0 1
CDH23 0 0 1 0 0 0 0 1
CEP295 0 0 1 0 0 0 0 1
CLDN14 0 0 1 0 0 0 0 1
CNPY3, GNMT, PEX6, PPP2R5D, PTCRA 0 0 1 0 0 0 0 1
CNPY3-GNMT, GNMT, PEX6 0 0 0 1 0 0 0 1
COL18A1 0 1 0 0 0 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 0 0 1
COL5A1 0 1 0 0 0 0 0 1
COL9A3 0 1 0 0 0 0 0 1
CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, XPO4 0 0 1 0 0 0 0 1
CSPP1 0 1 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 0 1
DMPK, LOC107075317 0 0 1 0 0 0 0 1
DUOX2 0 0 0 1 0 0 0 1
DYNLRB2, LINC01227, LINC01228, LINC01229, LOC110120569, LOC110120570, LOC111365156, LOC111365213, LOC111429607, LOC112486209, MAF, MAFTRR, WWOX 1 0 0 0 0 0 0 1
EVC2 0 1 0 0 0 0 0 1
EXOC3L2 0 1 0 0 0 0 0 1
EXOC4, LOC101928861 0 1 0 0 0 0 0 1
FAM166B 0 0 1 0 0 0 0 1
FTL, GYS1, LOC119369037 0 0 0 1 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 0 0 1
FZD4, PRSS23 1 0 0 0 0 0 0 1
G6PD, IKBKG 0 0 1 0 0 0 0 1
GALT, IL11RA, LOC121331325 1 0 0 0 0 0 0 1
GNMT, PEX6 0 1 0 0 0 0 0 1
GNMT, PEX6, PPP2R5D 0 0 1 0 0 0 0 1
KIAA0586 0 1 0 0 0 0 0 1
LEMD2 1 0 0 0 0 0 0 1
LOXHD1 0 0 0 1 0 0 0 1
LOXL3 1 0 0 0 0 0 0 1
MICAL3, PEX26 0 0 1 0 0 0 0 1
MIPEP, PCOTH 0 0 1 0 0 0 0 1
MIR204, TRPM3 1 0 0 0 0 0 0 1
MMAA 0 0 1 0 0 0 0 1
MMUT 0 0 1 0 0 0 0 1
MSR1 0 0 0 1 0 0 0 1
MYLK2 0 0 1 0 0 0 0 1
MYO15A 0 0 1 0 0 0 0 1
RAB3GAP1 1 0 0 0 0 0 0 1
RHO 1 0 0 0 0 0 0 1
SNORD118, TMEM107 0 0 1 0 0 0 0 1
TALDO1 0 0 1 0 0 0 0 1
TMEM138 0 1 0 0 0 0 0 1
TMEM237 0 1 0 0 0 0 0 1
TSPAN12 1 0 0 0 0 0 0 1
TTC6 0 0 1 0 0 0 0 1
UPF3B 0 0 1 0 0 0 0 1
WRN 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 192
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 1102 254 2909 2129 649 1 0 7043
Illumina Clinical Services Laboratory,Illumina 13 12 3211 485 869 0 0 4585
Research and Development, ARUP Laboratories 962 4 19 5 52 0 0 1042
Counsyl 48 502 325 33 1 0 0 909
OMIM 632 0 2 0 0 0 0 634
Natera, Inc. 38 15 304 99 156 0 0 612
Baylor Genetics 133 44 156 1 0 0 0 334
Integrated Genetics/Laboratory Corporation of America 210 105 1 1 7 0 0 324
Genetic Services Laboratory, University of Chicago 188 52 34 0 0 0 0 274
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 76 87 74 2 0 0 0 237
Fulgent Genetics,Fulgent Genetics 60 12 149 1 0 0 0 222
Institute of Molecular, Cell and Systems Biology, University of Glasgow 146 0 0 0 0 0 0 146
Myriad Women's Health, Inc. 20 117 0 0 0 0 0 137
GeneReviews 108 0 2 0 9 0 0 119
Mendelics 26 20 17 8 34 0 0 105
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 13 7 11 8 56 0 0 95
Color Health, Inc 1 3 41 39 6 0 0 90
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 82 0 0 0 0 0 83
Centre for Mendelian Genomics,University Medical Centre Ljubljana 21 19 38 1 1 0 0 80
Institute of Human Genetics, Klinikum rechts der Isar 61 15 0 0 0 0 0 76
Molecular Biology Laboratory, Fundació Puigvert 30 38 0 0 0 0 0 68
Neuromuscular Research,Maastricht University Medical Centre 48 0 0 0 14 0 0 61
Sydney Genome Diagnostics,Children's Hospital Westmead 30 16 9 0 0 0 0 55
Albrecht-Kossel-Institute,Medical University Rostock 21 9 16 0 0 0 0 46
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 41 0 0 0 1 43
Precision Medicine Center,Zhengzhou University 16 22 5 0 0 0 0 43
Institute of Human Genetics, University of Leipzig Medical Center 14 4 22 1 1 0 0 42
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 6 26 2 0 0 0 40
Broad Institute Rare Disease Group, Broad Institute 2 7 21 8 2 0 0 40
Medical Genetics, University of Parma 4 20 10 0 0 0 0 34
UniProtKB/Swiss-Prot 0 0 0 0 0 0 33 33
SIB Swiss Institute of Bioinformatics 7 14 9 0 3 0 0 33
Center for Human Genetics, Inc,Center for Human Genetics, Inc 8 9 8 5 1 0 0 31
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 11 17 0 0 0 0 0 28
Johns Hopkins Genomics, Johns Hopkins University 12 8 7 0 1 0 0 28
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 1 4 19 0 0 26
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 9 14 0 0 0 0 0 23
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 12 7 3 0 0 0 0 22
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 4 13 4 0 0 0 0 21
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 9 6 4 0 0 0 0 19
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 7 7 5 0 0 0 0 19
Athena Diagnostics Inc 0 0 0 0 18 0 0 18
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 2 6 7 0 0 17
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 5 9 3 0 0 0 0 17
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 6 10 0 0 0 0 0 16
Elsea Laboratory,Baylor College of Medicine 4 0 11 0 0 0 0 15
Institute of Human Genetics,Cologne University 4 9 2 0 0 0 0 15
GenomeConnect, ClinGen 0 0 0 0 0 0 15 15
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 11 0 3 0 0 0 0 14
Mayo Clinic Laboratories, Mayo Clinic 0 1 12 0 0 0 0 13
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 6 7 0 0 0 0 0 13
Centogene AG - the Rare Disease Company 7 4 0 0 0 0 0 11
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 2 5 0 0 0 0 11
Undiagnosed Diseases Network,NIH 4 5 2 0 0 0 0 11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 7 3 1 0 0 0 0 11
Division of Human Genetics,Children's Hospital of Philadelphia 6 1 3 0 0 0 0 10
Center of Genomic medicine, Geneva,University Hospital of Geneva 6 4 0 0 0 0 0 10
Genetic Diagnostic Laboratory,University of Szeged 9 1 0 0 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 0 10
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 5 4 0 0 0 0 9
Kasturba Medical College, Manipal University 2 7 0 0 0 0 0 9
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 1 3 4 1 0 0 0 9
Clinical Genetics laboratory, University of Goettingen 0 3 3 1 0 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 0 2 3 0 0 7
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità 7 0 0 0 0 0 0 7
Hadassah Hebrew University Medical Center 1 6 0 0 0 0 0 7
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 7 0 0 0 0 0 0 7
Genetics Department, University Hospital of Toulouse 5 0 2 0 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 2 1 0 0 0 0 7
CeMIA 2 4 1 0 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 2 0 0 0 0 0 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 4 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 1 5 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 3 0 0 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 5 0 0 0 0 0 0 5
Neuromuscular and Neuropediatric Research Group,Germans Trias i Pujol Research Institute 4 1 0 0 0 0 0 5
Nilou-Genome Lab 0 0 1 2 2 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 2 0 1 0 0 4
Blueprint Genetics 1 2 1 0 0 0 0 4
CHU Sainte-Justine Research Center,University of Montreal 0 4 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 2 0 0 0 0 0 4
Pars Genome Lab 0 0 1 3 0 0 0 4
LifeCell International Pvt. Ltd 3 0 0 0 1 0 0 4
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 1 1 0 3
Eye Genetics Research Group,Children's Medical Research Institute 2 0 1 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 0 3
Department of Medical Genetics, Oslo University Hospital 1 2 0 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 0 3
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 3 0 0 0 0 0 3
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 3 0 0 0 0 0 0 3
Molecular Medicine Center, Medical University of Sofia 2 1 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 0 2 0 0 0 0 3
Kids Research, The Children's Hospital at Westmead 1 1 1 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 3 0 0 0 0 0 3
Biochemistry Laboratory of CDMU,Chengde Medical University 3 0 0 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 0 3
Department of Heart Center,Qingdao Women and Children's Hospital 1 2 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 1 0 0 0 0 0 2
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 1 0 0 0 0 0 2
Human Developmental Genetics Laboratory,Medical College of Wisconsin 2 0 0 0 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 0 2
Center for Medical Genetics Ghent,University of Ghent 2 0 0 0 0 0 0 2
UW Hindbrain Malformation Research Program,University of Washington 2 0 0 0 0 0 0 2
National Institute on Deafness and Communication Disorders,National Institutes of Health 0 0 2 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 0 0 0 0 0 0 2
Medical Genetics Section,University of Rome Tor Vergata 2 0 0 0 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 2 0 0 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 2
Department of Genetics,Fundacion Jimenez Diaz University Hospital 2 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 2 0 0 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 1 1 0 0 0 0 0 2
Institute of Reproductive and Stem Cell Engineering,Central South University 2 0 0 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 0 0 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 1 1 0 0 0 0 0 2
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 0 2 0 0 0 0 0 2
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 1 1 0 0 0 0 0 2
HSP Biomedical Diagnostics Department,Hospital San Pedro 0 2 0 0 0 0 0 2
Felix Claverie-Martin Laboratory,Hospital Universitario Nuestra Senora de Candelaria 2 0 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 2 0 0 0 0 0 0 2
University of Iowa Renal Genetics Clinic,University of Iowa 0 1 0 1 0 0 0 2
Division of Nephrology,Beth Israel Deaconess Medical Center 0 2 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 1 0 0 2
Reproductive Endocrine Unit, Massachusetts General Hospital 0 2 0 0 0 0 0 2
Institute of Clinical Laboratory Science,Nanjing University Affiliated Jinling Hospital 2 0 0 0 0 0 0 2
Laboratory for Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana 2 0 0 0 0 0 0 2
UCL Queen Square Institute of Neurology,University College London 0 2 0 0 0 0 0 2
Sema4,Sema4 0 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University 1 0 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 0 1
Samuels research lab,Centre de Recherche du CHU Ste-Justine 1 0 0 0 0 0 0 1
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 1 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 0 0 1
Erez Levanon lab,Bar Ilan University 1 0 0 0 0 0 0 1
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 0 0 1
Medical Genetic Institute of Henan Province,Henan Provincial People’s Hospital 1 0 0 0 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences 1 0 0 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 1 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 0 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 0 1
Biochimie Génétique et moléculaire, CHUGA 1 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 0 1
Leeds Institute of Biomedical and Clinical Sciences,University of Leeds 1 0 0 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 0 0 0 0 1 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 0 1
Zheng Lab,Zhongnan Hospital of Wuhan University 1 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 0 1
Pediatric Nephrology (Iijima Lab),Kobe University Graduate School of Medicine 1 0 0 0 0 0 0 1
Laboratory of Molecular Pathology,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1 0 0 0 0 0 0 1
Lilac Insights Pvt. Ltd. 0 0 1 0 0 0 0 1
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) 0 1 0 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 1 0 0 0 0 0 1
Schule lab,Hertie Institute for Clinical Brain Research 1 0 0 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 0 0 0 0 1
Renal Department,Renmin Hospital of Wuhan University 1 0 0 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 0 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics,Yakut Science Centre of Complex Medical Problems 0 1 0 0 0 0 0 1
Department of Ophthalmology,Fourth Military Medical University 1 0 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 1 0 0 0 0 0 1
Indian Institute of Integrative Medicine,Council of Scientific and Industrial Research 0 0 1 0 0 0 0 1
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 0 1
Sección de Genética Clínica, Hospital Clinico Universidad de Chile 0 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 0 1 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 1 1
Section for Clinical Neurogenetics,University of Tübingen 0 1 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 0 1
Center for Inherited Cardiovascular Diseases,IRCCS Fondazione Policlinico San Matteo 1 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 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
Department of Pediatrics,University Hospital Center Zagreb 1 0 0 0 0 0 0 1
Biochemistry Metabolomics and Proteomics Laboratory,Necker Enfants Malades Hospital 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory Heidelberg, Heidelberg University 1 0 0 0 0 0 0 1
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 0 1 0 0 0 0 0 1
Paris Brain Institute,Inserm - ICM 1 0 0 0 0 0 0 1
School of Computer Science,University of Waterloo 1 0 0 0 0 0 0 1

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