ClinVar Miner

Variants studied for peroxisomal disease

Included ClinVar conditions (82):
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
1680 1505 5387 6116 677 45 14335

Gene and significance breakdown #

Total genes and gene combinations: 97
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PEX6 159 129 546 873 37 3 1651
ABCD1 329 212 381 545 106 4 1419
PEX1 148 164 374 580 42 2 1192
HSD17B4 97 164 233 621 45 1 1091
PEX5 44 28 418 465 31 0 956
ACOX1 48 44 303 401 42 0 799
PEX10 99 75 289 330 20 1 742
PEX7 69 93 191 308 27 11 643
PEX16 24 15 211 328 20 1 581
PEX26 39 30 256 213 40 0 552
AGXT 227 151 171 40 32 13 506
PEX12 88 56 212 171 13 0 497
PEX13 31 5 272 165 15 0 477
GATAD1, PEX1 56 62 150 245 16 3 472
PEX2 56 44 226 150 23 1 469
PEX14 7 4 200 212 27 0 429
PEX19 10 10 211 159 24 0 399
AMACR, C1QTNF3-AMACR 2 1 214 143 16 0 364
AGPS 5 20 124 24 34 0 198
TRIM37 22 61 78 7 11 0 167
GNPAT 13 31 60 10 13 0 118
PHYH 14 33 35 10 9 0 93
PEX3 6 9 45 4 8 1 72
PEX13, PUS10 4 2 32 29 0 0 67
LOC129998796, PEX1 13 8 18 22 1 0 55
DNM1L 16 15 15 4 4 0 50
LOC126805616, PEX14 1 0 15 18 4 0 35
PEX10, RER1 0 0 20 2 1 0 23
HSD17B4, LOC129994460 4 5 4 13 0 0 22
AGPS, LOC129935172 0 0 14 8 2 0 20
PEX11B 5 10 5 1 0 0 19
MFF 7 2 6 2 0 0 16
BCAP31 5 1 5 0 0 1 12
SCP2 2 3 3 1 1 2 12
LOC130066940, PEX26 3 3 3 3 0 0 10
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 6 4 0 9
FAR1 3 2 3 1 0 0 8
LOC130003374, PHYH 1 2 2 0 0 1 6
ABCD3 1 0 0 1 3 0 5
LOC113788293, PEX2 0 0 5 0 0 0 5
CAT 1 1 2 0 0 0 4
LOC126862606, TRIM37 0 1 3 0 0 0 4
​intergenic 0 3 0 0 0 0 3
ACOX1, TEN1, TEN1-CDK3 0 0 2 1 0 0 3
GNMT, PEX6 1 1 0 0 1 0 3
GNPAT, LOC129932767 0 0 2 0 1 0 3
ABCD1, PLXNB3 1 2 1 0 0 0 2
AMACR 0 0 2 0 0 0 2
DNM1L, YARS2 0 0 0 0 2 0 2
A2ML1, ACSM4, AICDA, APOBEC1, ATN1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, ENO2, FAM90A1, FOXJ2, GDF3, LPCAT3, LRRC23, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, SPSB2, TPI1, ZNF705A 0 0 1 0 0 0 1
A2ML1, ACSM4, AICDA, APOBEC1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, FAM90A1, FOXJ2, GDF3, LPCAT3, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, ZNF705A 1 0 0 0 0 0 1
ABCC10, BICRAL, BYSL, C6orf132, CCND3, CNPY3, CRIP3, CUL7, CUL9, DLK2, DNPH1, FOXP4, FRS3, GNMT, GTPBP2, GUCA1A, GUCA1B, KLC4, KLHDC3, LRRC73, MAD2L1BP, MDFI, MEA1, MED20, MRPL2, MRPS10, MRPS18A, NCR2, PEX39, PEX6, PGC, POLH, POLR1C, PPP2R5D, PRICKLE4, PRPH2, PTCRA, PTK7, RPL7L1, RRP36, RSPH9, SLC22A7, SRF, TAF8, TBCC, TFEB, TJAP1, TOMM6, TREM1, TREM2, TREML2, TREML4, TRERF1, TTBK1, UBR2, USP49, VEGFA, XPO5, YIPF3, ZNF318 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, AVPR2, BCAP31, BGN, CCNQ, DUSP9, HAUS7, HCFC1, IDH3G, IRAK1, L1CAM, MAGEA1, MECP2, NAA10, NSDHL, PDZD4, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RENBP, SLC6A8, SRPK3, SSR4, TMEM187, TREX2, ZFP92, ZNF185, ZNF275 0 0 1 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, F8, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, MPP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BRCC3, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, F8, F8A1, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, MPP1, MTCP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RAB39B, RENBP, RPL10, SLC10A3, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A, VBP1 0 0 1 0 0 0 1
ABCD1, BCAP31 0 1 1 0 0 0 1
ABCD1, BCAP31, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, PLXNB3, SRPK3 1 0 0 0 0 0 1
ABCD1, BCAP31, PLXNB3 1 0 0 0 0 0 1
ABCD1, BCAP31, SLC6A8 1 0 0 0 0 0 1
ABCD1, LOC130068831 0 0 1 0 0 0 1
ACAP3, ACTRT2, AGRN, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 1 0 0 0 0 0 1
ACOX1, FBF1, GALK1, H3-3B, ITGB4, MRPL38, TRIM47, TRIM65, UNC13D, UNK, WBP2 0 0 1 0 0 0 1
ACOX1, TEN1 1 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 1
AGXT, ANKMY1, AQP12A, AQP12B, CAPN10, CAPN10-DT, COPS9, DUSP28, GPC1, GPR35, HDAC4, KIF1A, LINC02991, LOC106783501, LOC110121201, LOC110121227, LOC111501790, LOC112840918, LOC112840919, LOC112840920, LOC121009634, LOC121009635, LOC122889014, LOC126806580, LOC126806581, LOC126806582, LOC126806583, LOC129935948, LOC129935949, LOC129935950, LOC129935951, LOC129935952, LOC129935953, LOC129935954, LOC129935955, LOC129935956, LOC129935957, LOC129935958, LOC129935959, LOC129935960, LOC129935961, LOC129935962, LOC129935963, LOC129935964, LOC129935965, LOC129935966, LOC129935967, LOC129935968, LOC129935969, LOC129935970, LOC129935971, LOC129935972, LOC129935973, LOC129935974, LOC129935975, LOC129935976, LOC129935977, LOC129935978, LOC129935979, LOC129935980, LOC129935981, LOC129935982, LOC129935983, LOC129935984, LOC129935985, LOC129935986, LOC129935987, LOC129935988, LOC129935989, LOC150935, LOC285191, MGC16025, MIR149, MIR2467, MIR4269, MIR4440, MIR4441, MIR4786, NDUFA10, OR6B2, OR6B3, OTOS, PRR21, RNPEPL1 1 0 0 0 0 0 1
AGXT, MAB21L4 1 0 0 0 0 0 1
AGXT2, AMACR, BRIX1, C1QTNF3, DNAJC21, PRLR, RAD1, RAI14, SLC45A2, TTC23L 0 0 1 0 0 0 1
AHI1, BCLAF1, IFNGR1, IL20RA, IL22RA2, LINC02539, MAP3K5, MAP7, MTFR2, OLIG3, PDE7B, PEX7, SLC35D3, TNFAIP3 1 0 0 0 0 0 1
AMACR, BRIX1, C1QTNF3, DNAJC21, RAD1, RAI14, TTC23L 0 0 1 0 0 0 1
AMACR, SLC45A2 0 0 1 0 0 0 1
AP2B1, FNDC8, GAS2L2, NLE1, PEX12, RAD51D, RASL10B, SLC35G3, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, UNC45B 1 0 0 0 0 0 1
AP2B1, GAS2L2, PEX12, RASL10B, SLC35G3, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, UNC45B 0 0 1 0 0 0 1
ATP1A2, ATP1A4, CASQ1, COPA, DCAF8, DCAF8-DT, NCSTN, PEA15, PEX19 0 0 1 0 0 0 1
BCAP31, SLC6A8 1 0 0 0 0 0 1
C1orf127, CASZ1, MASP2, PEX14, TARDBP 0 0 1 0 0 0 1
C2orf74, FAM161A, PEX13, SANBR, USP34, XPO1 0 0 1 0 0 0 1
CALML6, CFAP74, FAAP20, GABRD, GNB1, MORN1, PEX10, PRKCZ, RER1, SKI, TMEM52 0 0 1 0 0 0 1
CEP55 0 0 1 0 0 0 1
CNPY3, GNMT, PEX6, PPP2R5D, PTCRA 0 0 1 0 0 0 1
CREB3L1, CRY2, DGKZ, FREY1, LARGE2, MAPK8IP1, PEX16, PHF21A, SLC35C1 1 0 0 0 0 0 1
CRY2, FREY1, MAPK8IP1, PEX16, SLC35C1 0 0 1 0 0 0 1
DYNC1H1 0 0 1 0 0 0 1
GNMT, PEX6, PPP2R5D 0 0 1 0 0 0 1
LOC126862606, LOC130061313, LOC130061314, LOC130061315, LOC130061316, LOC130061317, MIR301A, MIR454, PRR11, SKA2, TRIM37 0 1 0 0 0 0 1
LOC129933826, LOC129933827, LOC129933828, PEX13, PUS10, SANBR 1 0 0 0 0 0 1
LOC129998796, PEX1, RBM48 0 0 0 0 1 0 1
LOC130066939, PEX26 0 0 0 0 1 0 1
MICAL3, PEX26 0 0 1 0 0 0 1
MMUT 0 0 1 0 0 0 1
OSBPL7 0 0 1 0 0 0 1
PAF1, SAMD4B 0 0 1 0 0 0 1
PEX26, TUBA8 1 0 0 0 0 0 1
PNPLA7 0 0 1 0 0 0 1
PPM1E, TRIM37 0 1 0 0 0 0 1
TRPM3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 167
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1187 308 3605 5804 384 0 11288
Illumina Laboratory Services, Illumina 9 6 1343 172 297 0 1823
Natera, Inc. 80 24 426 173 115 0 818
Baylor Genetics 190 401 37 0 0 0 625
Fulgent Genetics, Fulgent Genetics 108 232 182 49 9 0 580
Counsyl 28 272 130 13 1 0 444
Clinical Biochemistry Laboratory, Health Services Laboratory 196 24 60 4 2 0 286
Genome-Nilou Lab 31 27 53 21 131 0 262
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 122 79 2 1 0 0 204
OMIM 190 0 0 0 2 0 192
Myriad Genetics, Inc. 10 145 5 0 0 0 160
Mendelics 21 12 5 8 20 0 66
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 25 18 17 0 1 0 61
Neuberg Centre For Genomic Medicine, NCGM 12 20 28 0 0 0 60
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 10 16 21 0 48
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 27 8 11 0 0 0 46
Johns Hopkins Genomics, Johns Hopkins University 21 16 9 0 0 0 46
Institute of Human Genetics, University of Leipzig Medical Center 16 16 11 1 0 0 44
Revvity Omics, Revvity 15 14 10 0 0 0 39
3billion, Medical Genetics 13 9 10 2 0 0 34
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 10 14 5 0 0 0 29
GeneReviews 0 0 0 0 0 28 28
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 19 8 0 0 0 0 27
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 7 18 1 0 0 0 26
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 5 7 0 0 0 20
Elsea Laboratory, Baylor College of Medicine 5 1 12 0 0 0 18
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 11 6 1 0 0 0 18
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 11 0 1 0 16
Juno Genomics, Hangzhou Juno Genomics, Inc 3 10 3 0 0 0 16
Thalassemia Center, San Luigi University Hospital 12 2 1 0 0 0 15
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 9 5 0 0 0 0 14
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 3 6 0 1 0 13
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 11 0 0 0 0 12
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 11 0 0 0 0 12
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 11 0 0 0 12
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 4 0 0 0 0 9
MGZ Medical Genetics Center 1 4 4 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 0 9 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 8 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 5 0 0 0 8
Genetic Services Laboratory, University of Chicago 6 1 0 0 0 0 7
Centogene AG - the Rare Disease Company 3 1 3 0 0 0 7
Undiagnosed Diseases Network, NIH 4 3 0 0 0 0 7
New York Genome Center 0 2 5 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 3 3 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 2 1 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 4 0 0 0 0 6
SIB Swiss Institute of Bioinformatics 1 2 1 0 2 0 6
Wangler Lab, Baylor College of Medicine 1 5 0 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 2 0 0 0 0 6
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 2 1 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 4 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 3 0 0 5
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 3 0 0 0 0 5
Pars Genome Lab 1 0 2 1 1 0 5
Lifecell International Pvt. Ltd 1 4 0 0 0 0 5
Division of Human Genetics, Children's Hospital of Philadelphia 3 1 0 0 0 0 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 2 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 4 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 3 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 3 1 0 0 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 4 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 2 2 0 0 0 4
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 4 0 0 0 0 4
Genomics England Pilot Project, Genomics England 2 2 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 2 1 0 0 0 3
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 2 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 2 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 1 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 1 1 1 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 1 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 2 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 1 0 0 0 0 3
UF de génétique clinique, APHP Hôpital Armand Trousseau 0 3 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 1 0 0 0 3
Suma Genomics 2 0 1 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 2 0 3
Institute of Immunology and Genetics Kaiserslautern 2 1 0 0 0 0 3
Department of Genetics, Suzhou Beikang Medical Laboratory 1 2 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 0 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 1 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 0 2 0 0 0 0 2
Arcensus 0 2 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 1 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 2 0 0 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
ITMI 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Faculty of Medicine, Iran University of Medical Sciences (IUMS) 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Kangwon National University Hospital 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 1 0 0 0 1
Sección de Genética Clínica, Hospital Clinico Universidad de Chile 0 1 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 0 1 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
iDNA Genomics 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Oleksyk Lab, Oakland University 1 0 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 0 1 0 0 0 1
Next Generation Genetic Polyclinic 0 1 0 0 0 0 1
Neurogenetics and Molecular Medicine Laboratory, Institut De Recerca Sant Joan De Déu 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Fetal Health Research Center, Hope Generation Foundation 1 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 0 1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 1 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 0 1 0 0 0 1
Institute of Rare Diseases, West China Hospital, Sichuan University 1 0 0 0 0 0 1
GLIA-CTN Genomics Core 0 1 0 0 0 0 1

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