ClinVar Miner

Variants studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
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 affects other not provided total
3137 1962 7621 3626 1514 23 8 36 16191

Gene and significance breakdown #

Total genes and gene combinations: 163
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
GAA 248 228 576 315 59 0 3 1 1208
AGL 167 143 523 203 45 0 0 1 1003
SLC37A4 56 43 310 191 20 0 0 0 588
MAN2B1 70 88 194 176 35 0 0 0 479
GALT 255 103 115 53 40 0 0 0 457
ARSB 80 86 220 75 30 0 0 0 453
PYGM 71 69 161 154 27 0 0 2 424
IDUA 88 74 139 130 29 0 2 1 407
HGSNAT 55 38 209 112 27 0 0 0 401
BTD 220 73 123 52 19 0 0 3 376
PC 31 15 121 199 32 0 0 1 367
HLCS 32 37 165 107 42 0 0 0 352
NAGLU 62 70 134 110 14 0 0 0 334
SGSH 49 45 150 113 29 0 0 0 326
ABCC8 49 111 159 17 10 0 0 0 324
AGXT 182 50 104 20 19 0 0 0 309
PRKAG2 7 1 186 83 16 0 0 0 292
LAMP2 48 10 127 45 61 0 0 0 284
GLB1 67 64 91 87 11 0 0 2 266
NGLY1 34 10 163 48 8 0 0 0 260
G6PC1 55 53 100 52 21 0 0 1 250
GBE1 61 19 84 83 24 0 0 2 241
ALDOB 45 80 59 59 19 0 0 1 223
GALNS 66 31 97 21 27 0 0 0 221
GYS1 7 5 159 31 17 0 0 2 215
DLD 24 33 71 80 28 0 0 0 209
GNS 14 5 90 62 23 0 0 0 186
AGA 28 45 81 40 15 0 0 0 177
PFKM 17 11 59 80 21 0 0 1 172
PHKB 13 4 115 31 20 0 0 0 170
SLC2A1 42 19 66 4 41 0 0 3 170
SI 8 4 126 11 16 0 0 0 162
HOGA1 32 17 104 6 13 0 0 0 155
PDHA1 52 14 32 38 28 0 0 0 155
IDS 76 20 13 29 14 6 0 0 149
GALK1 18 20 63 59 11 0 0 0 146
IDS, LOC106050102 67 19 10 25 25 7 0 0 140
PYGL 34 5 72 22 20 0 0 0 140
GRHPR 31 41 58 16 13 0 0 1 134
LIAS 12 4 95 19 6 0 0 0 133
RBCK1 19 2 87 24 3 0 0 0 133
SLC5A1 7 1 87 11 27 0 0 0 132
PHKA2 42 25 46 4 19 0 0 1 130
GUSB 26 5 65 25 17 0 1 0 128
LCT 3 8 88 13 17 0 0 0 123
IDUA, SLC26A1 20 11 37 55 12 0 2 0 119
MANBA 13 5 69 14 23 0 0 1 118
GYS2 15 5 66 13 22 0 0 0 112
HYAL1 13 0 43 52 15 0 0 0 112
SLC2A2 24 3 53 14 22 0 0 0 112
KCNJ11 11 16 80 6 7 0 0 0 110
PDHB 11 0 44 36 13 0 0 0 98
PHKA1 9 2 51 14 24 0 0 0 95
FBP1 21 6 49 11 12 0 0 1 92
PCK1 3 2 64 9 17 0 0 0 92
PDHX 12 3 39 8 31 0 0 1 92
FUCA1 24 6 42 13 10 0 0 0 87
GALE 12 5 58 17 6 0 0 0 86
PHKG2 19 5 55 6 9 0 0 0 84
CTSA 14 3 45 13 11 0 0 0 80
PKLR 15 5 54 4 4 0 0 0 79
GLUD1 11 1 45 17 9 0 0 0 78
SLC16A1 3 1 56 9 3 0 0 0 72
GCK 10 1 36 15 8 0 0 0 70
NAGA 6 5 41 12 11 0 0 0 67
LDHA 2 0 45 11 9 0 0 0 65
ENO3 3 0 40 5 16 0 0 1 61
NEU1 23 2 27 2 5 0 0 0 58
SLC5A2 8 5 42 2 2 0 0 0 58
TALDO1 8 0 38 2 3 0 0 1 51
DBNL, PGAM2 5 1 36 7 7 0 0 1 50
TPI1 8 0 26 6 11 0 0 0 50
HADH 5 0 37 4 4 0 0 0 49
G6PD 14 1 26 6 3 0 0 1 45
ALDOA, LOC112694756 2 0 34 5 5 0 0 0 43
CGREF1, KHK 0 0 27 4 12 0 0 0 43
DLAT 4 1 17 13 7 0 0 0 40
RPIA 4 1 27 2 4 0 0 0 38
KHK 0 0 25 2 8 2 0 0 37
LDHB 0 0 24 2 4 4 0 0 34
CA5A 10 2 11 8 3 0 0 0 33
GYG1 11 2 12 3 4 0 0 0 31
MAP3K15, PDHA1 0 0 11 1 18 0 0 0 30
RUSF1, SLC5A2 1 0 20 3 2 0 0 0 25
GALNS, TRAPPC2L 4 3 10 2 1 0 0 0 20
GPI 8 1 6 0 5 0 0 0 20
PGK1 14 1 5 1 0 0 0 0 20
NAGA, WBP2NL 0 0 10 2 7 0 0 0 19
FTL, GYS1 0 0 9 7 6 0 0 0 18
GLB1, TMPPE 2 1 4 8 3 0 0 0 18
APRT, GALNS 0 0 1 9 9 0 0 0 16
CCDC40, GAA 0 0 2 7 7 0 0 0 16
GLYCTK 3 1 10 0 0 0 0 3 15
APIP, PDHX 0 0 5 2 6 0 0 0 13
LIAS, LOC112939935 0 0 9 4 0 0 0 0 13
SGSH, SLC26A11 3 2 4 5 0 0 0 0 11
CCDC189, PHKG2 0 0 8 2 0 0 0 0 10
GALK1, ITGB4 0 0 4 2 5 0 0 0 10
HCN3, PKLR 0 0 9 0 1 0 0 0 10
GK 8 0 1 0 0 0 0 0 9
GLUD1, SHLD2 0 0 6 3 1 0 0 0 9
CTSA, NEURL2 0 0 5 2 1 0 0 0 8
LOC112449713, PHKB 0 0 8 0 1 0 0 0 8
NRL, PCK2 2 0 4 1 1 0 0 1 8
PDP1 3 0 4 0 1 0 0 0 8
ABCC8, KCNJ11 0 0 4 3 1 0 0 0 7
HK1 3 1 3 0 0 0 0 0 7
INSR 2 0 5 0 0 0 0 0 7
GNPTAB 6 0 0 0 0 0 0 0 6
TKT 4 0 2 0 0 0 0 1 6
ABCC8, LOC110121471 2 0 1 2 0 0 0 0 5
GALM 5 0 0 0 0 0 0 0 5
BPGM 4 0 0 0 0 0 0 0 4
​intergenic 3 0 0 0 0 0 0 0 3
CYB5R3 2 1 0 0 0 0 0 0 3
G6PD, IKBKG, LOC107181288 0 0 2 1 0 0 0 0 3
VPS33A 1 0 2 0 0 0 0 0 3
CTSA, PLTP 0 0 2 0 0 0 0 0 2
DCXR 0 0 0 0 0 2 0 0 2
DLAT, PIH1D2 1 0 1 0 0 0 0 0 2
G6PD, IKBKG 0 0 2 0 0 0 0 0 2
GALE, HMGCL 0 0 0 1 1 0 0 0 2
GYS1, LOC119369037 1 0 1 0 0 0 0 0 2
MCM6 0 0 2 0 0 0 0 0 2
SHPK 0 0 0 0 0 2 0 0 2
SLC16A12 1 0 1 0 0 0 0 0 2
ADGRG2, CDKL5, PDHA1, PHKA2, PPEF1, RS1 1 0 0 0 0 0 0 0 1
ADGRV1 0 0 1 0 0 0 0 0 1
AGA, AGA-DT 0 0 1 0 0 0 0 0 1
AGXT, ANKMY1, AQP12A, AQP12B, CAPN10, CAPN10-DT, COPS9, DUSP28, GPC1, GPR35, HDAC4, KIF1A, LOC100130449, LOC106783501, LOC110121201, LOC110121227, LOC111501790, LOC112840918, LOC112840919, LOC112840920, LOC121009634, LOC121009635, LOC150935, LOC285191, MGC16025, MIR149, MIR2467, MIR4269, MIR4440, MIR4441, MIR4786, NDUFA10, OR6B2, OR6B3, OTOS, PRR21, RNPEPL1 1 0 0 0 0 0 0 0 1
AKAP14, ATP1B4, LAMP2, NDUFA1, NKAP, RHOXF1, RHOXF2, RHOXF2B, RNF113A, TMEM255A, UPF3B, ZBTB33 0 0 1 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 0 0 1 0 0 0 0 0 1
ANO5 1 0 0 0 0 0 0 0 1
AP3B1, ARSB, LHFPL2, SCAMP1 1 0 0 0 0 0 0 0 1
ARCN1, ATP5MG, BCL9L, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, FOXR1, H2AX, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MPZL2, MPZL3, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TMPRSS4, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 0 0 1 0 0 0 0 0 1
ASL, GUSB 1 0 0 0 0 0 0 0 1
BANP, CA5A, JPH3, KLHDC4, SLC7A5, ZNF469 1 0 0 0 0 0 0 0 1
CARD14, SGSH 1 0 0 0 0 0 0 0 1
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, HLCS, MORC3, SETD4, SIM2 0 0 1 0 0 0 0 0 1
CDH23 0 0 1 0 0 0 0 0 1
CSNK2A1, RBCK1, SCRT2, SLC52A3, SRXN1, TBC1D20, TCF15 0 0 1 0 0 0 0 0 1
DCAF8L1, DCAF8L2, DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB10, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 0 0 0 0 0 0 0 1 1
DCX 0 1 0 0 0 0 0 0 1
DIAPH1 0 0 0 1 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 0 0 1
DPAGT1, H2AX, HMBS, HYOU1, SLC37A4, VPS11 0 0 1 0 0 0 0 0 1
FNTA, HGSNAT, POMK, POTEA 0 0 1 0 0 0 0 0 1
FTL, GYS1, LOC119369037 0 0 1 0 1 0 0 0 1
GALNT11, GALNTL5, KMT2C, PRKAG2, XRCC2 0 0 1 0 0 0 0 0 1
GALT, IL11RA, LOC121331325 1 0 0 0 0 0 0 0 1
HGSNAT, POMK 0 0 1 0 0 0 0 0 1
LIAS, RPL9, UGDH 0 0 1 0 0 0 0 0 1
LOC110121276, LOC110121277, LOC110121278, LOC110121279, PRKAG2 0 0 1 0 0 0 0 0 1
MMAB 0 0 0 0 1 0 0 0 1
MOCOS 0 0 1 0 0 0 0 0 1
MOK 0 0 1 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 0 0 1
NEU1, SLC44A4 1 0 0 0 0 0 0 0 1
PIK3CA 0 1 0 0 0 0 0 0 1
PITX1 0 1 0 0 0 0 0 0 1
RNF31 0 0 1 0 0 0 0 0 1
TREH 1 0 1 0 0 0 0 0 1
YARS1 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 161
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Invitae 1357 304 2753 2875 625 0 8 0 7922
Illumina Clinical Services Laboratory,Illumina 57 25 3499 470 908 0 0 0 4938
Counsyl 148 947 768 210 5 0 1 0 2079
Natera, Inc. 162 22 595 161 196 0 0 0 1136
OMIM 723 0 1 0 4 10 0 0 738
Research and Development, ARUP Laboratories 417 3 12 1 45 0 0 0 478
Integrated Genetics/Laboratory Corporation of America 327 86 1 1 7 0 0 0 422
Clinical Biochemistry Laboratory,Health Services Laboratory 238 0 79 0 0 0 0 0 317
Baylor Genetics 115 20 119 0 0 0 0 0 254
Broad Institute Rare Disease Group, Broad Institute 89 66 33 49 13 0 0 0 250
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 42 99 98 1 5 0 0 0 245
GeneReviews 178 0 0 0 24 0 0 0 202
Myriad Women's Health, Inc. 46 127 0 0 0 0 0 0 173
Mendelics 59 39 25 15 23 0 0 0 161
Fulgent Genetics,Fulgent Genetics 64 26 61 0 0 0 0 0 151
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen 66 43 15 2 11 0 0 0 137
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 17 5 17 10 55 0 0 0 104
Genomic Research Center, Shahid Beheshti University of Medical Sciences 32 15 40 2 0 0 0 0 89
Genetic Services Laboratory, University of Chicago 45 16 9 0 0 0 0 0 70
ATS em Genética Clínica,Universidade Federal do Rio Grande do Sul 16 51 0 0 0 0 0 0 67
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 38 24 0 0 0 0 0 0 62
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 9 1 2 9 39 0 0 0 60
Centre for Mendelian Genomics,University Medical Centre Ljubljana 19 14 22 0 3 0 0 0 58
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 44 0 1 0 0 0 0 0 45
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 41 0 0 0 0 1 43
Centre for Human Genetics 30 8 4 0 1 0 0 0 43
Centogene AG - the Rare Disease Company 30 11 0 0 0 0 0 0 41
Institute of Human Genetics, Klinikum rechts der Isar 27 11 0 0 0 0 0 0 38
Institute of Human Genetics, University of Leipzig Medical Center 14 8 14 2 0 0 0 0 38
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 18 15 5 0 0 0 0 0 38
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 31 0 0 0 1 0 0 0 32
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 23 8 0 0 0 0 0 0 31
GenomeConnect, ClinGen 0 0 0 0 0 0 0 30 30
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 9 1 2 5 12 0 0 0 29
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 28 0 0 0 0 0 0 28
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 8 10 10 0 0 0 0 0 28
Pediatrics,All India Institute of Medical Sciences, New Delhi 0 11 0 0 0 13 0 0 24
Knight Diagnostic Laboratories, Oregon Health and Sciences University 11 7 4 0 0 0 0 0 22
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 6 14 1 0 0 0 0 0 21
Mayo Clinic Laboratories, Mayo Clinic 5 0 12 0 0 0 0 0 17
Phosphorus, Inc. 0 0 0 1 16 0 0 0 17
SingHealth Duke-NUS Institute of Precision Medicine 3 7 6 0 0 0 0 0 16
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 8 5 2 0 0 0 0 0 15
Division of Human Genetics,Children's Hospital of Philadelphia 9 5 1 0 0 0 0 0 15
Reproductive Health Research and Development,BGI Genomics 10 1 3 0 1 0 0 0 15
Athena Diagnostics Inc 0 0 0 0 14 0 0 0 14
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 9 3 2 0 0 0 0 0 14
Elsea Laboratory,Baylor College of Medicine 5 0 7 1 0 0 0 0 13
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 3 5 1 0 0 0 0 13
Undiagnosed Diseases Network,NIH 10 0 3 0 0 0 0 0 13
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 8 0 1 0 0 0 0 12
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 8 0 0 0 0 0 0 12
Department of Genetics,Sultan Qaboos University Hospital, Oman 5 4 3 0 0 0 0 0 12
Medical Molecular Genetics Department, National Research Center 11 0 0 0 0 0 0 0 11
SIB Swiss Institute of Bioinformatics 1 8 0 0 2 0 0 0 11
MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA 7 3 0 0 0 0 0 0 10
Ege University Pediatric Genetics,Ege University 3 0 7 0 0 0 0 0 10
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 7 3 0 0 0 0 0 0 10
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 8 2 0 0 0 0 0 0 10
Center of Genomic medicine, Geneva,University Hospital of Geneva 8 1 0 0 0 0 0 0 9
Medical Biochemical Genetics, National Human Genome institute, NIH,National Institutes of Health 9 0 0 0 0 0 0 0 9
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 3 6 0 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 8 0 0 0 0 0 9
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 8 0 0 0 0 0 0 0 8
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 8 0 0 0 0 0 0 0 8
Molecular Diagnostics Laboratory,Seoul National University Hospital 4 3 1 0 0 0 0 0 8
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 7 0 0 0 0 0 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 5 1 1 0 0 0 0 0 7
Johns Hopkins Genomics, Johns Hopkins University 4 2 1 0 0 0 0 0 7
NxGen MDx 0 6 1 0 0 0 0 0 7
Molecular Therapies Laboratory,Murdoch University 7 0 0 0 0 0 0 0 7
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 2 2 3 0 0 0 0 0 7
Nilou-Genome Lab 0 1 2 2 2 0 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 1 2 2 0 0 0 6
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center 6 0 0 0 0 0 0 0 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 3 0 0 0 0 0 0 6
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 5 0 0 0 1 0 0 0 6
Research Laboratory of Human Genome and Multifactorial Diseases,Faculty of Pharmacy, University of Monastir 6 0 0 0 0 0 0 0 6
Pars Genome Lab 0 0 0 6 0 0 0 0 6
Hadassah Hebrew University Medical Center 0 5 0 0 0 0 0 0 5
Genomic Medicine Lab, University of California San Francisco 3 1 1 0 0 0 0 0 5
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 4 0 0 0 0 0 5
New York Genome Center 1 0 4 0 0 0 0 0 5
HFI Laboratory at Boston University,Boston University 4 0 0 0 0 0 0 0 4
Clinical Genetics laboratory, University of Goettingen 0 2 2 0 0 0 0 0 4
GeneDx 1 0 1 0 2 0 0 0 4
National Center for Biotechnology Information, National Institutes of Health 4 0 0 0 0 0 0 0 4
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 2 0 0 0 0 0 0 4
LifeCell International Pvt. Ltd 3 0 0 0 1 0 0 0 4
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 1 2 1 0 0 0 0 4
DLE - Diagnosticos Laboratoriais Especializados 3 0 0 0 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 1 0 0 0 0 0 0 3
Universitäts-Kinderspital Zürich 0 0 0 0 0 0 0 3 3
Medical Genetic Department,Shiraz University Of Medical Science 3 0 0 0 0 0 0 0 3
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 3 0 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 3 0 0 0 0 0 0 3
Kasturba Medical College, Manipal University 3 0 0 0 0 0 0 0 3
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 2 0 0 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 3 0 0 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 3 0 0 0 0 0 0 0 3
Sydney Genome Diagnostics,Children's Hospital Westmead 3 0 0 0 0 0 0 0 3
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2 0 0 0 0 0 0 0 2
Institute of Human Genetics,Cologne University 1 1 0 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 0 0 2
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 2 0 0 0 0 0 0 0 2
Laboratorio de Medicina Genomica, Hospital General de Culiacan 2 0 0 0 0 0 0 0 2
Genomic Medicine Lab,University of Southampton 2 0 0 0 0 0 0 0 2
GenePathDx,Causeway Health Care Private Ltd 0 2 0 0 0 0 0 0 2
Daryl Scott Lab,Baylor College of Medicine 1 0 1 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 1 1 0 0 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 1 0 0 0 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 1 1 0 0 0 0 0 0 2
Experimental Epileptology, AG Lerche,Hertie Institute for Clinical Brain Research 0 2 0 0 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 1 1 0 0 0 0 0 0 2
Breda Genetics srl 1 0 1 0 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 1 0 0 0 0 0 2
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 1 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 0 0 0 1
Claritas Genomics 1 0 0 0 0 0 0 0 1
Center for Human Genetics Laboratory,University Hospitals - University Hospitals Laboratory Service Foundation 1 0 0 0 0 0 0 0 1
FirmaLab,FirmaLab 1 0 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 1 0 0 0 0 0 0 0 1
Freeman-Sheldon Research Group,deGruyter-McKusick Institute of Health Sciences 1 0 0 0 0 0 0 0 1
Laboratory of Genomics, National Research Institute of Animal Production 0 1 0 0 0 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 0 0 1
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 1 0 0 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 0 0 1
GENETICS INSTITUTE,National university of Colombia 1 0 0 0 0 0 0 0 1
Human Genetics Unit,University of Colombo 0 1 0 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 0 0 1
Laboratory of Dr Salvatore DiMauro, H. Houston Merritt Clinical Research Center.,Columbia University Medical Center 1 0 0 0 0 0 0 0 1
Columbia University Medical Center,Columbia University 0 1 0 0 0 0 0 0 1
Laboratorio de Citogenómica y Microarreglos,Universidad Autonoma de Nuevo Leon 1 0 0 0 0 0 0 0 1
Jacobi Internal Medicine Residency Program,Jacobi Medical Center 1 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 1
Center for Medical Genetics,GenVams Trust 1 0 0 0 0 0 0 0 1
Palladino Lab,Pittsburgh Institute for Neurodegenerative Disease 1 0 0 0 0 0 0 0 1
Department of Medical Genetics,Ahvaz Jundishapur University of Medical Sciences 0 1 0 0 0 0 0 0 1
Diagnostica di Laboratorio,Fondazione Policlinico Gemelli 0 1 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 0 1 0 0 0 0 0 0 1
Neurology Institute,Anhui University of Chinese Medicine 1 0 0 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics MedGen 0 0 0 0 0 0 0 1 1
Department of biochemistry and genetics, Arak University of Medical sciences 0 1 0 0 0 0 0 0 1
Center for Computational Genomics and Data Science,University of Alabama 1 0 0 0 0 0 0 0 1
Laboratorio de Genética, Hospital Universitario Clinico San Cecilio 0 1 0 0 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 0 0 1
Dr Sami Ulus Medical Genetics Department,Dr Sami Ulus Training and Research Hospital for Maternity and Children's Health and Diseases 1 0 0 0 0 0 0 0 1
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 1 0 0 0 0 0 0 0 1
Center for Human Genetics,University Hospitals Cleveland Medical Center 0 0 1 0 0 0 0 0 1
Ladle Lab,Johns Hopkins University 0 1 0 0 0 0 0 0 1

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