ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (93):
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 pathogenic, low penetrance risk factor not provided total
1075 543 8563 7886 861 1 3 83 18496

Gene and significance breakdown #

Total genes and gene combinations: 103
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor not provided total
DYNC1H1 26 24 1294 2132 166 0 0 9 3521
LMNA 253 102 502 370 22 0 0 5 1222
AARS1 45 14 638 515 44 0 0 3 1214
KIF1B 2 0 568 451 52 0 0 0 1067
IGHMBP2 112 29 364 504 47 0 0 4 1042
MFN2 124 86 462 294 57 1 0 4 993
DNM2 18 7 476 454 68 0 0 1 979
NAGLU 127 53 283 443 20 0 0 2 922
TRPV4 23 17 487 345 59 0 0 5 898
LRSAM1 41 42 384 274 28 0 0 5 738
MORC2 11 10 344 296 32 0 0 2 686
MED25 1 4 308 309 30 0 0 2 646
GARS1 16 10 334 238 35 0 0 11 615
MARS1 4 1 358 213 29 0 0 0 602
TRIM2 3 1 206 189 9 0 0 1 407
NEFL 30 5 250 103 12 0 0 3 397
BSCL2, HNRNPUL2-BSCL2 22 7 192 153 13 0 0 0 387
HSPB1 31 10 156 82 14 0 0 0 286
SPG11 20 5 156 32 10 0 0 12 227
HSPB8 4 1 124 51 15 0 0 2 193
LOC130060903, NAGLU 28 8 56 88 0 0 0 0 179
GDAP1 18 7 119 9 16 0 0 3 152
RAB7A 6 1 64 48 17 0 0 0 135
DYNC1H1, LOC126862060 1 0 46 80 4 0 0 0 126
LMNA, LOC126805877 16 14 43 31 2 0 0 0 102
KIF1B, LOC126805614 0 0 33 29 2 0 0 0 64
LMNA, LOC129931597 18 5 25 14 1 0 0 0 63
DNM2, LOC130063529 0 0 29 21 0 0 0 0 50
IGHMBP2, LOC126861245 4 2 14 24 5 0 0 0 48
MME 11 14 16 2 0 0 3 2 46
MPV17 15 22 4 1 1 0 0 1 42
LOC126860330, NEFL 3 1 20 10 1 0 0 0 35
LOC129929426, MFN2 0 0 27 7 1 0 0 0 34
DHTKD1 2 7 14 1 9 0 0 1 32
ATP1A1 6 5 13 0 13 0 0 0 30
ARHGAP9, MARS1 0 0 17 8 1 0 0 0 26
LOC112872299, RAB7A 0 0 13 13 0 0 0 0 26
NEFH 2 4 15 0 5 0 0 0 26
MPZ 12 6 5 0 1 0 0 3 25
KIF1B, LOC129388446 0 0 12 9 0 0 0 0 21
PNKP 2 5 5 4 2 0 0 0 18
KIF1B, LOC129388447 0 0 6 10 1 0 0 0 17
MED25, MIR6800 0 0 4 11 2 0 0 0 17
HARS1 5 4 6 0 1 0 0 1 15
DYNC1H1, LOC130056502 0 0 7 3 0 0 0 0 10
VCP 3 2 2 0 4 0 0 0 10
GDAP1, LOC130000622 1 0 6 0 1 0 0 0 8
MARS1, MIR6758 0 0 2 5 0 0 0 0 7
DNM2, LOC130063529, MIR638 0 0 2 4 0 0 0 0 6
DYNC1H1, LOC125078040 0 0 4 0 2 0 0 0 6
DCAF8 1 0 3 1 0 0 0 0 5
DNM2, MIR6793 0 0 0 3 2 0 0 0 5
LOC129929423, MFN2 0 0 5 0 0 0 0 0 5
MIR4497, TRPV4 0 0 3 1 0 0 0 0 4
LOC130002648, LRSAM1 0 0 2 0 1 0 0 0 3
MFN2, PLOD1 0 0 2 0 1 0 0 0 3
MIR6841, NEFL 0 0 2 0 1 0 0 0 3
BSCL2 1 0 1 0 0 0 0 0 2
LMNA, LOC120893162, LOC126805877, LOC129931597, LOC129931598, LOC129931599, LOC129931600 1 0 1 0 0 0 0 0 2
LOC130056971, SPG11 0 0 2 0 0 0 0 0 2
LOC130056973, SPG11 0 0 2 0 0 0 0 0 2
AARS1, COG4, DDX19A, DDX19A-DT, DDX19B, FCSK, IL34, LOC112486204, LOC125177345, LOC126862386, LOC130059328, LOC130059329, LOC130059330, LOC130059331, LOC130059332, LOC130059333, LOC130059334, LOC130059335, LOC130059336, LOC130059337, LOC130059338, LOC130059339, LOC130059340, LOC130059341, LOC130059342, SF3B3, SNORD111, SNORD111B, ST3GAL2 0 0 1 0 0 0 0 0 1
ACAD9, ACAD9-DT, CFAP92, LOC112872299, LOC126806807, LOC129389132, LOC129937528, LOC129937529, MIR12124, RAB7A 0 0 1 0 0 0 0 0 1
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 0 0 1 0 0 0 0 0 1
ADAM15, ADAR, AQP10, ARHGEF2, ASH1L, ATP8B2, BCAN, BGLAP, C1orf43, CCT3, CFAP141, CHRNB2, CKS1B, CLK2, CRABP2, DAP3, DCST1, DCST2, DPM3, EFNA1, EFNA3, EFNA4, ENTREP3, FDPS, FLAD1, GBA1, GLMP, GON4L, GPATCH4, HAPLN2, HAX1, HCN3, HDGF, IL6R, INSRR, IQGAP3, ISG20L2, KCNN3, KHDC4, KRTCAP2, LAMTOR2, LENEP, LMNA, MEF2D, METTL25B, MEX3A, MIR9-1, MIR9-1HG, MRPL24, MSTO1, MTX1, MUC1, NAXE, NES, NTRK1, PAQR6, PBXIP1, PKLR, PMF1, PMF1-BGLAP, PMVK, PRCC, PYGO2, RAB25, RHBG, RIT1, RUSC1, RXFP4, SCAMP3, SEMA4A, SH2D2A, SHC1, SHE, SLC25A44, SLC50A1, SMG5, SSR2, SYT11, TDRD10, THBS3, TMEM79, TPM3, TRIM46, TSACC, TTC24, UBAP2L, UBE2Q1, UBQLN4, VHLL, YY1AP1, ZBTB7B 0 0 1 0 0 0 0 0 1
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, PPP2R5C, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 0 0 1
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 0 0 1
AGTRAP, ANGPTL7, C1orf127, C1orf167, CASZ1, CENPS, CENPS-CORT, CLCN6, CLSTN1, CORT, CTNNBIP1, DFFA, DISP3, DRAXIN, EXOSC10, FBXO2, FBXO44, FBXO6, H6PD, KIAA2013, KIF1B, LZIC, MAD2L2, MASP2, MFN2, MIIP, MTHFR, MTOR, NMNAT1, NPPA, NPPB, PEX14, PGD, PIK3CD, PLOD1, RBP7, SLC25A33, SPSB1, SRM, TARDBP, TMEM201, TNFRSF1B, TNFRSF8, UBE4B, UBIAD1, VPS13D 0 0 1 0 0 0 0 0 1
AQP1, CRHR2, GARS1, GHRHR, INMT, MINDY4 0 0 1 0 0 0 0 0 1
ARHGEF2, BCAN, BGLAP, CCT3, CRABP2, DAP3, GLMP, GON4L, GPATCH4, HAPLN2, HDGF, INSRR, IQGAP3, ISG20L2, KHDC4, LAMTOR2, LMNA, MEF2D, METTL25B, MEX3A, MIR9-1, MIR9-1HG, MRPL24, MSTO1, NAXE, NES, NTRK1, PAQR6, PMF1, PMF1-BGLAP, PRCC, RAB25, RHBG, RIT1, RXFP4, SEMA4A, SH2D2A, SLC25A44, SMG5, SSR2, SYT11, TMEM79, TSACC, TTC24, UBQLN4, VHLL, YY1AP1 1 0 0 0 0 0 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, LOC110121262, LOC120893162, LOC121725059, LOC122128442, LOC122128443, LOC122128444, LOC126805876, LOC126805877, LOC129931577, LOC129931578, LOC129931579, LOC129931580, LOC129931581, LOC129931582, LOC129931583, LOC129931584, LOC129931585, LOC129931586, LOC129931587, LOC129931588, LOC129931589, LOC129931590, LOC129931591, LOC129931592, LOC129931593, LOC129931594, LOC129931595, LOC129931596, LOC129931597, LOC129931598, LOC129931599, LOC129931600, MEX3A, MIR6738, RAB25, RIT1, RXFP4, SCARNA4, SNORA80E, SSR2, UBQLN4 0 0 1 0 0 0 0 0 1
ATL3 0 0 1 0 0 0 0 0 1
ATP7A 0 0 1 0 0 0 0 0 1
BGLAP, LMNA, LOC110013312, LOC120893162, LOC126805877, LOC129931597, LOC129931598, LOC129931599, LOC129931600, LOC129931601, LOC129931602, LOC129931603, LOC129931604, LOC129931605, LOC129931606, LOC129931607, LOC129931608, LOC129931609, LOC129931610, LOC129931611, LOC129931612, PMF1, PMF1-BGLAP, SEMA4A, SLC25A44 1 0 0 0 0 0 0 0 1
CDCA2, DOCK5, EBF2, GNRH1, KCTD9, NEFL 1 0 0 0 0 0 0 0 1
CENPS, CENPS-CORT, CORT, DFFA, KIF1B, PEX14, PGD 0 0 1 0 0 0 0 0 1
COASY, HSD17B1, MLX, NAGLU, PSMC3IP 0 0 1 0 0 0 0 0 1
COL12A1 0 0 1 0 0 0 0 0 1
DCTN1 0 0 1 0 0 0 0 0 1
DCTN2, DDIT3, KIF5A, MARS1, MBD6, MIR616 0 0 1 0 0 0 0 0 1
DGAT2 0 0 1 0 0 0 0 0 1
DNAJB2 1 0 0 0 0 0 0 0 1
DNM2, LOC130063529, LOC130063530, LOC130063531, LOC130063532, LOC130063533, LOC130063534, LOC130063535, LOC130063536, MIR4748, MIR638 0 0 1 0 0 0 0 0 1
DYNC1H1, LOC130056499, LOC130056500, PPP2R5C 0 0 1 0 0 0 0 0 1
ELOC, GDAP1, JPH1, LINC01617, LOC126860420, LOC129390012, LOC130000611, LOC130000612, LOC130000613, LOC130000614, LOC130000615, LOC130000616, LOC130000617, LOC130000618, LOC130000619, LOC130000620, LOC130000621, LOC130000622, LY96, TMEM70, UBE2W 0 0 1 0 0 0 0 0 1
EMD 0 1 0 0 0 0 0 0 1
HARS1, LOC129994848 0 1 0 0 0 0 0 0 1
HSPB3 0 1 0 0 0 0 0 0 1
JPH1 0 0 0 0 1 0 0 0 1
KIAA2013, MFN2, NPPA, NPPB, PLOD1 0 0 1 0 0 0 0 0 1
KIF1A 0 1 0 0 0 0 0 0 1
KIF1B, LOC129929363 0 0 0 1 0 0 0 0 1
KIF5A 0 1 0 0 0 0 0 0 1
LMNA, LOC120893162, LOC129931597, LOC129931598, LOC129931599 1 0 0 0 0 0 0 0 1
LOC129929423, MFN2, PLOD1 0 0 0 0 1 0 0 0 1
LOC129933372, MPV17 0 1 0 0 0 0 0 0 1
LOC129993256, LOC129993257, TRIM2 0 0 1 0 0 0 0 0 1
MPV17, TRIM54, UCN 1 1 0 0 0 0 0 0 1
MPZ, SDHC 0 0 1 0 0 0 0 0 1
PMP22 0 0 0 0 0 0 0 1 1
POLG, POLGARF 0 0 1 0 0 0 0 0 1
SETX 0 0 1 0 0 0 0 0 1
SLC5A7 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 115
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor not provided total
Invitae 918 362 7543 7695 668 1 0 0 17187
Illumina Laboratory Services, Illumina 0 0 532 194 287 0 0 0 1012
Fulgent Genetics, Fulgent Genetics 38 14 163 70 10 0 0 0 295
Genome-Nilou Lab 4 1 152 30 101 0 0 0 288
Inherited Neuropathy Consortium Ii, University Of Miami 2 0 150 0 0 0 0 0 151
OMIM 122 0 1 0 0 0 3 0 126
Baylor Genetics 24 26 39 0 0 0 0 0 89
Mendelics 11 12 8 5 8 0 0 0 44
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 41 41
MGZ Medical Genetics Center 7 13 14 1 0 0 0 0 35
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 14 10 9 0 0 0 0 0 33
Revvity Omics, Revvity 0 3 28 0 0 0 0 0 31
3billion 16 4 9 0 0 0 0 0 29
Neuberg Centre For Genomic Medicine, NCGM 3 3 21 0 0 0 0 0 27
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 7 11 6 0 0 0 25
Institute of Human Genetics, University of Leipzig Medical Center 6 6 11 0 0 0 0 0 23
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 15 0 1 0 0 0 21
GenomeConnect, ClinGen 0 0 0 0 0 0 0 20 20
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 16 2 0 0 0 0 20
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 5 7 0 0 0 0 0 16
GeneReviews 0 0 0 0 0 0 0 15 15
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 2 1 12 0 0 0 0 0 15
Athena Diagnostics Inc 8 1 0 0 5 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 6 0 0 0 0 0 0 11
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 5 6 0 0 0 0 0 0 11
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 5 6 0 0 0 0 0 11
Institute of Human Genetics, Cologne University 2 4 4 0 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 7 0 0 0 0 0 10
Genomics England Pilot Project, Genomics England 4 5 0 0 0 0 0 0 9
Molecular Genetics, Royal Melbourne Hospital 2 0 7 0 0 0 0 0 9
Centogene AG - the Rare Disease Company 1 1 6 0 0 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 4 0 0 0 0 0 8
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 0 4 0 0 0 0 0 8
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 7 0 0 0 0 0 8
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 3 3 2 0 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 4 0 0 0 0 0 7
Institute of Human Genetics, University of Goettingen 0 3 3 0 0 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 3 0 0 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 0 0 6
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 2 1 3 0 0 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 1 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 1 4 0 0 0 0 0 5
UCLA Clinical Genomics Center, UCLA 2 3 0 0 0 0 0 0 5
Institute of Human Genetics, University of Wuerzburg 0 1 4 0 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 3 0 0 0 0 0 0 5
New York Genome Center 0 0 5 0 0 0 0 0 5
CMT Laboratory, Bogazici University 5 0 0 0 0 0 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 5 5
Institute of Human Genetics, University Hospital of Duesseldorf 2 2 0 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 3 0 1 0 0 0 0 0 4
Suma Genomics 1 1 1 1 0 0 0 0 4
DASA 1 3 0 0 0 0 0 0 4
Human Genetics Bochum, Ruhr University Bochum 0 1 3 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 2 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 0 0 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 3 3
Department of Medical Genetics, Oslo University Hospital 0 3 0 0 0 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 1 0 0 0 0 0 3
Undiagnosed Diseases Network, NIH 1 1 1 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 0 0 3
Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon 3 0 0 0 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 3 0 0 0 0 0 3
Antonellis Laboratory at Michigan, University of Michigan 0 0 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 1 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 1 2 0 0 0 0 0 0 3
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 2 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 0 0 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 2 0 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 0 0 2
Neurology Department, Peking University First Hospital 2 0 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 0 0 2
Paris Brain Institute, Inserm - ICM 2 0 0 0 0 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 0 0 1 0 0 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 0 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 0 0 0 0 0 0 1
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM 0 1 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 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 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 1 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 0 0 1
Neurology Laboratory, National Cheng Kung University Hospital 0 1 0 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 1
Human Genetics Research Center, Baqiyatallah University of Medical Sciences 1 0 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 0 0 0 1
Department of Clinical Genetics, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 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 0 0 1

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