ClinVar Miner

Variants studied for glycoprotein metabolism disease

Included ClinVar conditions (92):
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 not provided total
1260 1025 5555 5627 830 42 13543

Gene and significance breakdown #

Total genes and gene combinations: 139
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POMGNT1, TSPAN1 94 102 304 512 18 2 980
POMT1 120 90 337 433 61 0 972
POMT2 77 68 374 444 45 3 968
ALG13 7 3 356 527 94 0 944
ALG6 86 86 222 349 28 0 717
PMM2 142 180 207 244 27 13 682
ALG1 66 39 169 326 32 2 606
MPI 63 84 92 275 20 1 481
ALG12 26 14 215 213 32 0 466
RFT1 8 8 255 166 29 0 446
MOGS 20 9 240 158 15 0 434
POMGNT2 23 4 229 135 13 0 399
CRPPA 49 13 151 122 22 0 352
ATP6V0A2 17 5 126 154 36 0 338
ALG2 6 6 163 108 12 1 289
FKRP 44 89 155 22 11 1 288
GMPPB 32 18 124 111 6 0 281
PGM1 25 7 113 118 21 1 262
SLC35A3 39 6 46 163 7 0 255
POMGNT1 19 24 97 91 5 0 225
FKTN 22 43 136 20 16 0 223
POMK 20 1 118 77 8 1 222
ALG9 10 3 114 57 23 0 204
B3GLCT 9 7 96 53 45 3 200
DPAGT1 12 15 101 71 6 0 191
LFNG 5 2 68 101 11 1 187
ALG8 23 13 93 55 18 0 180
DDOST 4 1 88 54 19 2 166
ALG3 23 13 78 53 8 0 157
MESP2 4 6 58 19 17 1 96
MGAT2 9 3 68 14 7 0 93
TMEM165 5 0 40 32 9 0 82
DLL3 8 3 46 16 9 0 75
STT3B 1 0 25 33 11 1 69
ALG1, EEF2KMT 7 2 26 27 4 0 65
POFUT1 5 0 18 20 21 0 64
DPAGT1, LOC126861360 7 2 28 27 0 0 60
ALG1, LOC130058384 4 4 14 29 2 0 51
ALG11, UTP14C 4 5 29 8 6 0 50
ALG11 6 0 28 9 3 0 46
LOC129930668, PGM1 7 0 21 18 1 0 46
LOC129934128, MOGS 2 0 23 17 2 0 44
CRPPA, LOC129998005 6 0 19 7 3 0 35
ALG1, LOC130058383 1 1 12 19 1 0 33
LOC129936883, RFT1 0 0 19 16 0 0 32
LOC129992613, TMEM165 0 0 19 8 2 0 29
NGLY1 9 10 10 1 0 0 27
ATP6V0A2, LOC130009117 1 1 5 17 1 0 25
LOC130056177, POMT2 0 0 13 6 3 0 22
ATP6V0A2, LOC126861666 2 0 5 10 2 0 19
LOC130057891, MESP2 4 6 6 3 1 2 19
ALG9, LOC130006752 0 2 10 5 1 0 17
DLL3, LOC130064417 1 3 7 3 4 0 17
GMPPB, LOC129936764 2 0 6 8 1 0 17
SSR4 11 3 5 0 0 0 17
LOC130056175, POMT2 4 5 8 4 0 0 16
CRPPA, LOC129998004 3 0 8 4 0 0 15
POGLUT1 12 1 0 0 2 0 15
ALG11, LOC130009841 1 2 5 5 1 0 13
LFNG, LOC129997823 0 0 6 3 1 0 10
SLC39A8 3 2 4 0 1 0 10
ABAT, PMM2, TMEM186 0 0 8 0 0 1 9
CRPPA, LOC129389757 1 0 4 4 0 0 9
LOC126807125, SLC39A8 1 2 7 0 0 0 9
STT3A 2 0 3 1 3 0 9
B3GLCT, LOC130009514 0 0 7 1 1 0 8
LOC130055539, MGAT2 0 0 8 0 0 0 8
DPAGT1, HMBS 0 0 3 2 3 1 7
FAM219B, MPI 0 0 5 0 1 0 6
HES7 3 2 1 0 0 1 6
KRT5 3 1 1 1 0 0 6
LOC129930669, PGM1 0 0 3 3 0 0 6
LOC129936407, STT3B 1 0 3 1 0 0 5
LOC129936408, STT3B 0 0 0 3 2 0 5
LOC130056176, POMT2 0 0 1 4 0 0 5
RIPPLY2, RIPPLY2-CYB5R4 2 0 1 0 2 2 5
AGL, SLC35A3 3 0 1 0 0 0 4
ALG12, LOC130067776 0 0 2 0 1 0 3
DDOST, PINK1 0 0 0 0 3 0 3
DLL3, LOC130064419 1 0 1 0 1 0 3
DNAAF2, MGAT2 0 0 0 0 3 0 3
LARGE1 0 0 3 0 0 0 3
LFNG, MIR4648 0 0 0 2 1 0 3
LOC126807125, LOC129992876, SLC39A8 3 0 0 0 0 0 3
LOC129930471, POMGNT1 1 0 2 0 0 0 3
LOC129936409, STT3B 0 0 1 2 0 0 3
ABCG4, C2CD2L, CBL, DPAGT1, DRC12, HINFP, NHERF4, NLRX1 1 0 1 0 0 0 2
ALG13, DCX 0 0 2 0 0 0 2
ALG3, LOC129938049 0 0 2 1 0 0 2
ALG6, LOC129930665 0 0 2 0 0 0 2
ALG8, LOC130006492 0 0 0 1 1 0 2
CRPPA, LOC129389758 2 0 0 0 0 0 2
DLL3, LOC130064417, PLEKHG2 1 0 0 0 1 0 2
DLL3, LOC130064418 1 1 0 0 0 0 2
FKRP, LOC130064775, STRN4 1 0 1 0 0 0 2
HGSNAT, POMK 0 0 2 0 0 0 2
IDH3G, PLXNB3, SRPK3, SSR4 2 0 0 0 0 0 2
KRT5, LOC126861526 0 1 0 0 1 0 2
LOC129992876, SLC39A8 1 1 1 0 0 0 2
AASDH, ARL9, CEP135, CLOCK, CRACD, EXOC1, HOPX, KDR, KIT, NMU, PAICS, PDCL2, PDGFRA, PPAT, REST, SPINK2, SPMAP2L, SRD5A3, SRP72, TMEM165 0 0 1 0 0 0 1
AASDH, CEP135, CLOCK, CRACD, EXOC1, KDR, KIT, NMU, PAICS, PDCL2, PDGFRA, PPAT, SRD5A3, SRP72, TMEM165 0 0 1 0 0 0 1
ABAT, LOC130058390, LOC130058391, LOC130058392, LOC130058393, PMM2, TMEM186 1 0 0 0 0 0 1
ABCC5, ABCF3, ALG3, AP2M1, B3GNT5, CAMK2N2, CLCN2, DVL3, ECE2, EIF2B5, EIF4G1, FAM131A, HTR3C, HTR3D, HTR3E, KLHL24, KLHL6, LAMP3, MAP6D1, MCCC1, MCF2L2, MIR1224, PARL, POLR2H, PSMD2, THPO, VWA5B2, YEATS2 0 0 1 0 0 0 1
ABHD5, ACKR2, ANO10, CCDC13, CCK, CTNNB1, CYP8B1, GASK1A, HHATL, HIGD1A, KLHL40, KRBOX1, LYZL4, NKTR, POMGNT2, SEC22C, SNRK, SS18L2, TRAK1, ULK4, VIPR1, ZBTB47, ZNF662 0 0 1 0 0 0 1
ABL1, AIF1L, EXOSC2, FAM78A, FIBCD1, LAMC3, NUP214, PLPP7, POMT1, PRDM12, PRRC2B, QRFP 0 0 1 0 0 0 1
ACTG2, ALMS1, AUP1, BOLA3, C2orf78, C2orf81, CCDC142, CCT7, CYP26B1, DCTN1, DGUOK, DOK1, DQX1, DUSP11, EGR4, EMX1, EXOC6B, FBXO41, HTRA2, INO80B, LBX2, LOXL3, MOB1A, MOGS, MRPL53, MTHFD2, NAT8, NAT8B, NOTO, PCGF1, PRADC1, RAB11FIP5, RTKN, SFXN5, SLC4A5, SMYD5, SPR, STAMBP, TET3, TLX2, TPRKB, TTC31, WBP1, WDR54 1 0 0 0 0 0 1
ADM2, ALG12, ARSA, BRD1, CHKB, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 0 0 1 0 0 0 1
ADM2, ALG12, ARSA, CHKB, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP 1 0 0 0 0 0 1
AK4, ALG6, ANGPTL3, ATG4C, C1orf141, CACHD1, DNAI4, DNAJC6, DOCK7, DYNLT5, EFCAB7, FOXD3, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, MIER1, MIR101-1, NFIA, PATJ, PDE4B, PGM1, RAVER2, ROR1, SGIP1, SLC35D1, TM2D1, UBE2U, USP1 0 0 1 0 0 0 1
AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALPL, C1QA, C1QB, C1QC, CAMK2N1, CAPZB, CDA, CDC42, CELA3A, CELA3B, DDOST, ECE1, EIF4G3, EMC1, EPHA8, FAM43B, HP1BP3, HSPG2, HTR6, IFFO2, KIF17, LDLRAD2, MICOS10, MICOS10-NBL1, MRTO4, MUL1, NBL1, NBPF3, OTUD3, PINK1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, RAP1GAP, RNF186, SH2D5, SLC66A1, TMCO4, UBR4, UBXN10, USP48, VWA5B1, WNT4, ZBTB40 0 0 1 0 0 0 1
ALAS1, BAP1, DNAH1, GLT8D1, GLYCTK, GNL3, ITIH1, ITIH3, ITIH4, MIRLET7G, MUSTN1, NEK4, NISCH, NT5DC2, PBRM1, PHF7, POC1A, PPM1M, RFT1, SEMA3G, SFMBT1, SPCS1, STAB1, STIMATE, STIMATE-MUSTN1, TLR9, TNNC1, TWF2, UQCC5, WDR82 0 0 1 0 0 0 1
ALAS2 0 0 0 0 1 0 1
ALG11, ATP7B 0 0 0 0 1 0 1
ALG11, ATP7B, LOC124900147, LOC130009838, LOC130009839, LOC130009840, LOC130009841, LOC130009842, UTP14C 0 0 1 0 0 0 1
ALG11, ATP7B, LOC130009841 0 0 1 0 0 0 1
ALG11, ATP7B, UTP14C 1 0 0 0 0 0 1
ALG11, LOC130009842 0 0 0 1 0 0 1
ALG13, CAPN6, CHRDL1, DCX, PAK3 0 0 1 0 0 0 1
ALG2, ANKS6, ANP32B, COL15A1, CORO2A, ERP44, FOXE1, GABBR2, GALNT12, HEMGN, INVS, NANS, NCBP1, NR4A3, SEC61B, STX17, TBC1D2, TDRD7, TGFBR1, TMOD1, TRIM14, TRMO, TSTD2, XPA 0 0 1 0 0 0 1
ALG3, EEF1AKMT4, EEF1AKMT4-ECE2, MIR1224, VWA5B2 0 1 0 0 0 0 1
ALG6, ATG4C, DOCK7, FOXD3 0 0 1 0 0 0 1
ALG9, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HSPB2 1 0 0 0 0 0 1
ANKMY2, BZW2, CRPPA, LOC129998004, LOC129998005, LOC129998006, LRRC72, SOSTDC1 1 0 0 0 0 0 1
AP4E1 1 0 0 0 0 0 1
ATP6V0A2, TCTN2 0 0 1 0 0 0 1
B4GAT1 0 1 0 0 0 0 1
BRAT1, LFNG 0 0 1 0 0 0 1
DAG1 0 0 1 0 0 0 1
FGF8 0 0 1 0 0 0 1
FNTA, HOOK3, LOC129389983, LOC130000310, LOC130000311, LOC130000312, LOC130000313, LOC130000314, LOC130000315, MIR4469, POMK, RNF170, THAP1 0 0 1 0 0 0 1
HES7, LOC130060203 1 0 0 0 0 0 1
KRT5, LOC126861525 0 0 1 0 0 0 1
LOC129936379, NGLY1 0 1 0 0 0 0 1
LOC130058391, PMM2 1 0 0 0 0 0 1
LOC130058392, LOC130058393, PMM2 1 0 0 0 0 0 1
LURAP1, POMGNT1 1 0 0 0 0 0 1
MAN1B1 0 0 0 0 0 1 1
MYH1, MYHAS 0 0 1 0 0 0 1
TBX6 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 158
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 861 281 4115 5383 597 0 11237
Illumina Laboratory Services, Illumina 11 1 997 118 178 0 1305
Baylor Genetics 177 385 82 1 0 0 645
Fulgent Genetics, Fulgent Genetics 58 48 282 143 14 0 545
Natera, Inc. 42 17 187 59 51 0 356
OMIM 300 0 2 0 0 0 302
Counsyl 12 140 103 12 2 0 269
Genome-Nilou Lab 4 0 23 5 165 0 196
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 67 49 0 0 0 0 116
Revvity Omics, Revvity 16 19 52 0 0 0 87
Myriad Genetics, Inc. 13 59 3 0 0 0 75
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 32 11 20 0 0 0 63
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 13 18 22 0 54
3billion 13 19 10 6 0 0 48
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 13 12 20 0 0 0 45
Mendelics 10 10 4 1 6 0 31
GeneReviews 4 0 0 0 3 23 30
Neuberg Centre For Genomic Medicine, NCGM 5 4 21 0 0 0 30
Institute of Human Genetics, University of Leipzig Medical Center 8 6 11 2 0 0 27
Centre for Mendelian Genomics, University Medical Centre Ljubljana 9 6 7 0 2 0 24
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 5 8 0 0 0 20
MGZ Medical Genetics Center 5 7 7 0 0 0 19
Juno Genomics, Hangzhou Juno Genomics, Inc 5 10 4 0 0 0 19
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 4 11 0 0 0 18
New York Genome Center 3 5 10 0 0 0 18
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 5 0 0 1 11 0 17
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 11 5 0 0 0 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 12 0 0 0 15
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 5 7 0 0 0 15
University of Washington Center for Mendelian Genomics, University of Washington 11 3 0 0 0 0 14
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 10 3 0 0 0 0 13
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 6 2 0 0 0 13
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 8 4 0 0 0 0 12
GenomeConnect, ClinGen 0 0 0 0 0 12 12
Athena Diagnostics 2 0 0 0 9 0 11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 4 5 0 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 5 1 0 3 1 0 10
Lab Thiel (Congenital Disorders of Glycosylation), Center for Child and Adolescent Medicine 10 0 0 0 0 0 10
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 4 3 0 0 0 10
Undiagnosed Diseases Network, NIH 4 4 1 0 0 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 4 0 0 0 0 8
Genomics England Pilot Project, Genomics England 1 7 0 0 0 0 8
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 5 2 0 0 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 6 1 0 0 0 0 7
Pediatric Metabolic Diseases, Hacettepe University 4 3 0 0 0 0 7
Morava/Kozicz Lab, Department of Clinical Genomics, Mayo Clinic 3 2 2 0 0 0 7
Dr.Nikuei Genetic Center 1 1 0 1 4 0 7
Genetic Services Laboratory, University of Chicago 4 2 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 1 5 0 0 0 6
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 2 4 0 0 0 0 6
Genomic Medicine Lab, University of California San Francisco 1 2 3 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Centogene AG - the Rare Disease Company 4 1 0 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 3 0 2 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 3 0 0 2 0 5
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 3 2 0 0 0 0 5
Biochemistry and Genetic Laboratory, APHP Bichat Claude Bernard Hospital 3 2 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 4 0 0 0 5
Research Laboratories, P. D. Hinduja Hospital & MRC 0 5 0 0 0 0 5
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 4 0 0 0 0 0 4
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 1 1 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 2 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 3 0 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 0 0 1 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 1 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 2 0 0 0 0 3
Center for Genetic Medicine Research, Children's National Medical Center 0 3 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 2 0 0 0 3
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute 3 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 2 1 0 0 0 0 3
Phosphorus, Inc. 0 0 1 0 2 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 1 0 0 0 3
Breda Genetics srl 0 0 3 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 3 0 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 1 0 0 3
Pars Genome Lab 0 0 2 1 0 0 3
DASA 3 0 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 1 1 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 3 0 0 0 0 3
MVZ Medizinische Genetik Mainz 0 2 1 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 2 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 0 0 0 0 2
Dobyns Lab, Seattle Children's Research Institute 2 0 0 0 0 0 2
Metabolic Research Unit, Children's University Hospital Muenster 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 0 0 0 0 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 0 0 0 0 0 2
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 1 0 1 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 1 1 0 0 0 0 2
Precision Medical Center, Wuhan Children's Hospital 0 2 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 2 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 0 1
Laboratory for Study of Mitochondrial Disorders, Charles University, First Faculty of Medicine - General University Hospital in Prague 1 0 0 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Marco Cassone, Clinical geneticist 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 0 1
GeniaGeo, Laboratorio Genia 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 0 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 1 0 0 0 0 1
Institute of Cell Biology and Neurobiology, Charite - Universitaetsmedizin Berlin 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 1 0 0 0 0 0 1
James R Lupski Laboratory, Baylor College Of Medicine 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 1
Medical Genetics, Christian Medical College 0 1 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
Pediatric Neurology and Rare Diseases Department, Hospital Sant Joan de Deu 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Tang Du Hospital of the Air Force Military Medical University 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1
Dept. of Pathology and Cell Biology, NewYork-Presbyterian Hospital/Columbia University Irving Medical Center 0 1 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 0 1 0 0 0 1

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