ClinVar Miner

Variants studied for anterior horn disorder

Included ClinVar conditions (149):
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 association risk factor not provided total
926 505 6741 5827 1629 1 3 97 15066

Gene and significance breakdown #

Total genes and gene combinations: 183
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
ATP7A 54 76 401 822 134 0 0 1 1474
SETX 26 13 468 463 355 0 0 2 1195
PLEKHG5 50 18 454 587 61 0 0 5 1143
DCTN1 8 3 611 478 69 0 0 4 1136
IGHMBP2 114 47 467 519 56 0 0 4 1111
BICD2 15 18 297 341 53 0 0 3 708
FBXO38 2 1 342 230 27 0 0 3 600
SQSTM1 31 5 301 211 32 0 0 0 573
VCP 20 14 163 267 30 0 0 0 483
VRK1 62 28 147 248 13 0 0 1 477
UBA1 3 0 184 171 88 0 0 3 438
SLC5A7 1 2 242 161 9 0 0 0 415
FUS 28 7 184 114 53 0 0 0 372
MATR3 3 1 189 136 48 0 0 0 364
TBK1 52 14 164 95 29 0 0 1 342
VAPB 2 0 186 89 51 0 0 0 313
OPTN 33 13 139 77 18 0 0 0 269
SPG11 23 7 165 32 10 0 0 13 241
DNAJB2 10 10 109 96 7 0 0 1 227
EXOSC3 28 11 64 104 10 0 0 2 203
CHCHD10 4 2 103 69 12 0 0 2 186
TARDBP 18 15 88 60 17 0 0 16 186
SOD1 59 41 43 33 7 0 0 0 164
ALS2 14 17 82 12 21 0 0 0 143
UBQLN2 6 2 81 34 15 0 0 0 130
SIGMAR1 7 7 56 56 7 0 0 0 129
SEPSECS 5 13 87 8 18 0 0 0 126
TRPV4 7 3 48 13 58 0 0 3 125
CHMP2B 6 0 59 30 22 0 0 8 113
DYNC1H1 10 18 51 16 9 0 0 8 106
FIG4 9 4 51 15 23 0 0 0 93
GARS1 9 3 36 6 40 0 0 1 93
BSCL2, HNRNPUL2-BSCL2 6 1 57 16 10 0 0 4 89
LOC126807526, MATR3 1 0 48 32 3 0 0 0 78
SMN1 45 14 13 5 0 0 0 1 74
C9orf72 0 0 42 4 23 0 0 0 69
LOC126863253, UBA1 0 0 24 20 13 0 0 0 56
MYH14 1 0 34 2 16 0 0 1 54
LOC108903148, OPTN 6 1 30 10 6 0 0 0 52
CYLD 4 1 46 0 0 0 0 0 51
HSPB3 1 0 33 14 6 0 0 0 51
ASAH1 11 6 14 2 21 0 0 2 50
IGHMBP2, LOC126861245 3 4 18 24 5 0 0 0 50
SOD1, SOD1-DT 13 11 17 7 4 0 0 1 48
HSPB1 9 8 13 2 16 0 0 0 45
HSPB8 2 2 19 3 16 0 0 0 40
LOC129995449, SQSTM1 0 2 12 24 1 0 0 0 39
LOC130001681, SIGMAR1 6 0 15 8 3 0 0 0 32
ERBB4 2 3 20 0 6 0 0 0 30
LOC126805598, PLEKHG5 1 0 12 13 5 0 0 0 29
TSEN54 7 5 13 0 6 0 0 1 29
ANG, EGILA, RNASE4 10 2 11 7 4 0 0 0 28
TSEN2 7 6 13 0 1 0 0 1 26
EXOSC3, LOC130001814 2 0 3 9 1 0 0 0 15
LOC126860782, SETX 0 0 5 7 5 0 0 0 15
NEFH 0 0 5 2 8 0 0 0 14
REEP1 2 2 6 0 4 0 0 0 14
LOC130003370, OPTN 0 0 6 1 5 0 0 0 12
TUBA4A 5 0 7 0 0 0 0 0 12
ATXN2 0 0 4 3 2 0 1 1 11
ANXA11 3 2 6 0 0 0 0 0 10
EXOSC8 2 2 5 1 1 0 0 1 10
PFN1 4 1 3 1 1 0 0 0 10
LOC130066253, VAPB 0 0 5 2 2 0 0 0 9
ANG 0 0 3 0 5 0 0 0 8
CCNF 3 0 5 0 0 0 0 0 8
WARS1 3 1 2 0 3 0 0 0 8
SPTLC1 6 1 1 0 0 0 0 0 7
SPTAN1 4 2 0 0 0 0 0 0 6
C9orf72, LOC109504728, LOC129929032 3 0 1 0 1 0 0 0 5
CHRNA3 0 4 1 0 0 0 0 0 5
DAO 0 1 3 1 0 0 0 0 5
ANG, LOC130055269 0 0 1 0 3 0 0 0 4
ATP7A, PGK1 0 0 2 1 1 0 0 0 4
KIF5A 0 1 3 0 0 0 0 0 4
LOC126860783, SETX 0 0 2 1 1 0 0 0 4
MIR4497, TRPV4 0 0 3 1 0 0 0 0 4
TSEN34 1 1 2 0 0 0 0 1 4
ALS2, LOC129935419 0 0 2 0 1 0 0 0 3
ATXN2, LOC130008791 0 0 0 2 1 0 1 0 3
ATXN2, LOC130008792 0 0 1 0 2 0 0 0 3
CHMP2B, LOC129937086 0 0 2 0 1 0 0 0 3
CHRNA4 0 0 1 2 0 0 0 0 3
CHRNB4 0 0 1 0 2 0 0 0 3
HNRNPA1 2 0 0 1 0 0 0 0 3
LOC129992330, SEPSECS 1 0 1 1 0 0 0 0 3
LOC130068339, UBQLN2 0 0 3 0 0 0 0 0 3
MATR3, SNHG4 0 0 2 0 1 0 0 0 3
PRPH, TROAP 0 1 1 0 1 0 0 0 3
SMN2 0 1 2 1 0 0 0 1 3
TSEN15 3 1 1 0 0 0 0 0 3
UNC13A 0 1 1 0 0 1 0 0 3
ANG, LOC130055270, RNASE4 0 0 0 1 1 0 0 0 2
ANG, RNASE4 0 0 2 0 0 0 0 0 2
C22orf15, CHCHD10 0 0 2 0 0 0 0 0 2
CAPN3 2 0 0 0 0 0 0 0 2
CCDC138, EDAR, GCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 2 0 0 0 0 0 2
CCNF, LOC105371050 1 0 1 0 0 0 0 0 2
CHMP2B, POU1F1 0 0 1 0 1 0 0 0 2
DNAJB2, LOC129935648 1 0 0 0 1 0 0 0 2
DYNC1H1, LOC126862060 0 0 1 0 1 0 0 0 2
EMILIN1 2 0 0 0 0 0 0 0 2
EWSR1 0 0 2 0 0 0 0 0 2
EXOSC8, LOC130009581 0 0 2 0 0 0 0 0 2
GLE1, LOC101929270 0 0 2 0 0 0 0 0 2
GRN 1 0 1 0 0 0 0 0 2
INE1, UBA1 0 0 2 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
LOC130067862, SCO2, TYMP 0 0 0 0 2 0 0 0 2
LOC130068340, UBQLN2 1 0 1 0 1 0 0 0 2
MASP2, TARDBP 0 0 1 0 1 0 0 0 2
NEK1 0 0 2 0 0 0 0 0 2
PLEKHG5, TNFRSF25 0 0 1 0 1 0 0 0 2
PNPLA6 0 0 2 0 0 0 0 0 2
SCFD1 0 0 2 0 0 0 0 0 2
SPG7 1 0 1 0 0 0 0 0 2
SYNE1 2 0 0 0 0 0 0 0 2
TLL2 0 0 2 0 0 0 0 0 2
ABCA7 0 0 1 0 0 0 0 0 1
ADAMTS2, C5orf60, CANX, CBY3, GRM6, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SQSTM1, ZNF354C, ZNF879 0 0 1 0 0 0 0 0 1
ADAMTS2, C5orf60, CANX, CBY3, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SQSTM1 0 0 1 0 0 0 0 0 1
ANKRD18B, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CHMP5, CIMIP2B, CLTA, CNTFR, CREB3, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, EXOSC3, FAM219A, FAM221B, FANCG, FBXO10, FRMPD1, GALT, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, IL11RA, KIF24, MELK, MSMP, MYORG, NDUFB6, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PHF24, PIGO, POLR1E, PRSS3, RECK, RGP1, RIGI, RMRP, RNF38, RPP25L, RUSC2, SIGMAR1, SIT1, SMU1, SPAG8, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, STOML2, TAF1L, TESK1, TLN1, TMEM215, TMEM8B, TOMM5, TOPORS, TPM2, TRMT10B, UBAP1, UBAP2, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7 0 0 1 0 0 0 0 0 1
ANKRD18B, APTX, AQP3, AQP7, ARID3C, B4GALT1, BAG1, CCL19, CCL21, CCL27, CHMP5, CNTFR, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, FAM219A, GALT, IL11RA, KIF24, MYORG, NDUFB6, NFX1, NOL6, NUDT2, PHF24, PRSS3, RIGI, RPP25L, SIGMAR1, SMU1, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, TAF1L, TMEM215, TOPORS, UBAP1, UBAP2, UBE2R2, VCP 0 0 1 0 0 0 0 0 1
ARHGEF10 0 0 1 0 0 0 0 0 1
ARHGEF39, ARID3C, ATOSB, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CIMIP2B, CLTA, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FAM221B, FANCG, GALT, GBA2, GLIPR2, GNE, HINT2, HRCT1, IL11RA, MSMP, NPR2, OR13J1, OR2S2, PHF24, PIGO, RECK, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, SPATA31F1, SPATA31G1, STOML2, TESK1, TLN1, TMEM8B, TPM2, UNC13B, VCP 0 0 1 0 0 0 0 0 1
ARID3C, CCL19, CCL21, CCL27, CNTFR, DCTN3, DNAI1, DNAJB5, ENHO, GALT, IL11RA, PHF24, RPP25L, SIGMAR1, SPATA31F1, SPATA31G1, VCP 0 0 1 0 0 0 0 0 1
ASAH1, LOC129999939, LOC129999940 1 0 0 0 0 0 0 0 1
ASAH1, LOC129999940 1 1 0 0 0 0 0 0 1
ASPN, BICD2, CENPP, ECM2, IARS1, IPPK, NOL8, OGN, OMD, PRSS47, SPTLC1 0 0 1 0 0 0 0 0 1
ATP5PO, CBR1, CBR3, CFAP298, CHAF1B, CLDN14, CLIC6, CRYZL1, DNAJC28, DONSON, DOP1B, DYRK1A, EPCIP, EVA1C, GART, HLCS, HUNK, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE1, KCNE2, KCNJ6, MIS18A, MORC3, MRAP, MRPS6, OLIG1, OLIG2, PAXBP1, PIGP, RCAN1, RIPPLY3, RUNX1, SCAF4, SETD4, SIM2, SLC5A3, SMIM11, SOD1, SON, SYNJ1, TCP10L, TIAM1, TMEM50B, TTC3, URB1, VPS26C 0 0 1 0 0 0 0 0 1
ATP7A, ATRX, COX7B, MAGT1, PGAM4 0 0 1 0 0 0 0 0 1
ATP7A, COX7B, MAGT1, PGAM4 0 0 1 0 0 0 0 0 1
ATXN2, LOC130008791, LOC130008792 1 0 0 0 0 0 0 1 1
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 1 0 0 0 0 0 1
CACNA1A 0 0 1 0 0 0 0 0 1
CAMK1D, CCDC3, OPTN 1 0 0 0 0 0 0 0 1
CAPN14 0 0 1 0 0 0 0 0 1
CCDC138, EDAR, GCC2, LIMS1, LINC01593, LINC01594, LOC107305685, LOC112695112, LOC122817721, LOC122817722, LOC126806301, LOC126806302, LOC126806303, LOC129388897, LOC129388898, LOC129934519, LOC129934520, LOC129934521, LOC129934522, LOC129934523, LOC129934524, LOC129934525, LOC129934526, LOC129934527, LOC129934528, LOC129934529, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 1 0 0 0 0 0 1
CFAP410 0 0 1 0 0 0 0 0 1
CHMP1A 0 1 0 0 0 0 0 0 1
CHMP2B, LOC129937085 0 0 1 0 0 0 0 0 1
CLN5 0 1 0 0 0 0 0 0 1
DDX20 0 0 1 0 0 0 0 0 1
DES, DES-LCR, DNAJB2, DNPEP, LOC120977025, LOC126806517, LOC129935649, LOC129935650, LOC129935651, LOC129935652, LOC129935653, LOC129935654, MIR153-1, PTPRN, RESP18 0 0 1 0 0 0 0 0 1
DNAJC7 0 0 1 0 0 0 0 0 1
DYNC1H1, LOC130056502 1 0 0 0 0 0 0 0 1
ELP3 0 0 1 0 0 0 0 0 1
ERLIN1 1 0 0 0 0 0 0 0 1
FBLN5 0 0 1 0 0 0 0 0 1
GLT8D1 0 0 1 0 0 0 0 0 1
KANK1 0 0 1 0 0 0 0 0 1
KIF1B 0 0 1 0 0 0 0 0 1
LMNA 0 0 1 0 0 0 0 0 1
LOC108903148, LOC108903149, LOC121366042, LOC130003372, LOC130003373, MCM10, OPTN 1 0 0 0 0 0 0 0 1
LOC108903148, LOC108903149, LOC130003372, OPTN 1 0 0 0 0 0 0 0 1
LOC108903148, LOC108903149, OPTN 1 0 0 0 0 0 0 0 1
LOC112533671, TSEN54 0 0 0 0 1 0 0 0 1
LOC112997583, SQSTM1 0 1 0 0 0 0 0 0 1
LOC124629354, PRPH, TROAP 0 0 1 0 0 0 0 0 1
LOC129994755, MATR3, SNHG4 0 0 1 0 0 0 0 0 1
LOC130000954, LRP12 1 0 0 0 0 0 0 0 1
LOC130001690, VCP 0 0 0 1 0 0 0 0 1
LOC130056407, VRK1 0 0 1 0 0 0 0 0 1
LOC130056709, NIPA1 0 0 0 0 0 0 1 0 1
LOC130068210, UBA1 0 0 1 0 0 0 0 0 1
MOBP 0 0 1 0 0 0 0 0 1
MORC2 0 0 1 0 0 0 0 0 1
MPZ 1 0 0 0 0 0 0 0 1
NEFL 0 0 1 0 0 0 0 0 1
PCCA 1 0 0 0 0 0 0 0 1
PNPO 1 0 0 0 0 0 0 0 1
PON1 0 0 1 0 0 0 0 0 1
PON3 0 0 0 1 0 0 0 0 1
SARM1 0 0 1 0 0 0 0 0 1
SCAF4, SOD1 1 0 0 0 0 0 0 0 1
SMN, SMN1 1 0 0 0 0 0 0 0 1
SMN1, SMN2 0 0 0 1 0 0 0 0 1
SON 1 0 0 0 0 0 0 0 1
SS18L1 0 0 1 0 0 0 0 0 1
TIA1 1 0 0 0 0 0 0 0 1
TNIP1 0 0 1 0 0 0 0 0 1
TRPM7 0 0 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 association risk factor not provided total
Invitae 555 156 4884 5494 1038 0 0 0 12127
Illumina Laboratory Services, Illumina 4 1 1071 235 611 0 0 0 1912
Genome-Nilou Lab 4 2 253 98 185 0 0 0 542
Fulgent Genetics, Fulgent Genetics 27 21 152 75 15 0 0 0 290
OMIM 274 0 1 0 0 0 1 0 276
Baylor Genetics 18 13 121 0 0 0 0 0 152
Natera, Inc. 4 3 78 13 20 0 0 0 118
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 24 51 26 5 5 0 0 0 111
Mendelics 21 15 8 1 16 0 0 0 61
Myriad Genetics, Inc. 0 61 0 0 0 0 0 0 61
Revvity Omics, Revvity 5 3 50 1 0 0 0 0 59
Inherited Neuropathy Consortium 3 0 55 0 1 0 0 0 59
UM ALS/MND Lab, University Of Malta 0 8 39 0 0 0 2 0 49
GeneReviews 4 0 0 0 1 0 0 41 46
MGZ Medical Genetics Center 10 12 22 0 0 0 0 0 44
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 38 38
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 8 1 25 0 0 0 0 0 34
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 4 3 26 0 0 0 0 0 33
Inherited Neuropathy Consortium Ii, University Of Miami 2 0 28 0 0 0 0 0 30
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 5 6 4 1 0 0 0 27
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 3 20 1 0 0 0 0 26
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 5 16 0 1 0 0 0 26
Institute of Human Genetics, University of Leipzig Medical Center 5 6 14 0 0 0 0 0 25
Institute of Human Genetics, Cologne University 10 5 6 0 0 0 0 0 21
3billion 4 10 6 0 0 0 0 0 20
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 15 3 0 0 0 0 0 0 18
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 8 10 0 0 0 18
Human Genetics Bochum, Ruhr University Bochum 7 4 7 0 0 0 0 0 18
Genetic Services Laboratory, University of Chicago 6 4 7 0 0 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 15 1 0 0 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 16 0 0 0 16
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 2 7 0 1 0 0 0 16
GenomeConnect, ClinGen 0 0 0 0 0 0 0 15 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 12 0 0 0 0 0 0 14
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 8 2 4 0 0 0 0 0 14
Athena Diagnostics Inc 0 0 0 0 13 0 0 0 13
Centogene AG - the Rare Disease Company 2 6 5 0 0 0 0 0 13
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 7 2 2 0 0 0 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 3 4 1 0 0 0 0 11
Molecular Genetics, Royal Melbourne Hospital 0 3 8 0 0 0 0 0 11
Medical Affairs, Dicerna Pharmaceuticals 9 1 0 0 0 0 0 0 10
New York Genome Center 1 1 8 0 0 0 0 0 10
Institute of Human Genetics, University of Goettingen 0 4 5 0 0 0 0 0 9
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 9 0 0 0 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 2 2 0 0 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 7 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 2 5 0 0 0 0 0 9
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 8 0 0 0 0 0 0 8
Département de Neurologie, Hospices Civils de Lyon 0 7 1 0 0 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 2 1 0 0 0 7
Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon 1 5 1 0 0 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 1 4 0 0 0 6
Weber Lab, Hannover Medical School 2 0 4 0 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 1 2 3 0 0 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 4 0 0 0 0 0 0 6
Service de Pédiatrie - Neurologie et infectiologie - Toulouse, CHU de Toulouse - Hôpital des Enfants 0 3 3 0 0 0 0 0 6
Suma Genomics 2 2 1 1 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 3 0 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 2 0 0 0 0 0 5
Genesis Genome Database 0 0 5 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 3 0 0 0 0 0 5
DASA 3 2 0 0 0 0 0 0 5
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 2 2 0 0 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 2 0 0 0 0 0 4
Undiagnosed Diseases Network, NIH 2 1 1 0 0 0 0 0 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 3 0 0 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 4 4
Department of Medical Genetics, Oslo University Hospital 0 3 0 0 0 0 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 1 2 0 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 2 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 2 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 1 2 0 0 0 0 0 0 3
Breda Genetics srl 0 0 3 0 0 0 0 0 3
Lifecell International Pvt. Ltd 2 1 0 0 0 0 0 0 3
Paris Brain Institute, Inserm - ICM 3 0 0 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 1 0 0 0 0 0 3
Genomics England Pilot Project, Genomics England 0 3 0 0 0 0 0 0 3
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 2 0 0 0 0 0 0 3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 2 0 1 0 0 0 0 0 3
Counsyl 1 0 1 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 0 0 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 2 0 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 2 0 0 0 0 2
Care4Rare-SOLVE, CHEO 0 0 2 0 0 0 0 0 2
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 0 2
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 0 0 2 0 0 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 1 1 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 1 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 0 0 2
Coyote Medical Laboratory (Beijing), Coyote 1 0 1 0 0 0 0 0 2
Clinical Genetics, University of Leipzig 1 1 0 0 0 0 0 0 2
Center for Biomedical Information, Shanghai Children’s Hospital 0 0 2 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 1 1 0 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 0 0 2
Section for Clinical Neurogenetics, University of Tübingen 0 1 1 0 0 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 0 0 2
Medical Genetics, Christian Medical College 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 0 0 0 0 0 2
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 2 0 0 0 0 0 0 2
Chongqing Key Laboratory of Neurology, First Affiliated Hospital of Chongqing Medical University 1 1 0 0 0 0 0 0 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 0 1 0 0 0 0 0 2
Department of Research, Sir Ganga Ram Hospital 0 1 0 0 0 1 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 0 1
Neurogenetics Department, Cyprus Institute of Neurology and Genetics 1 0 0 0 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 1 0 0 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 1 0 0 0 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 0 0 1 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 0 0 1
Molecular Neurogenomics lab, VIB Department of Molecular Genetics; University of Antwerp 1 0 0 0 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 1 0 0 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 0 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 0 1
Laboratory of Applied Genomics, Kongju National University 0 1 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 0 1
Paisan-Ruiz Laboratory, Icahn School of Medicine at Mount Sinai 1 0 0 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 0 0 1
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 0 1 0 0 0 0 0 0 1
Children's Hospital of Soochow University, Soochow University 0 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 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
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 0 0 1
Department of Neurology, Hospital Garcia de Orta 0 1 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
Codex Genetics Limited 0 1 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 0 0 1
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 0 0 1
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 0 1 0 0 0 0 0 0 1
O&I group, Department of Genetics, University Medical Center of Groningen 0 0 1 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 0 0 1
School of Bio-Medicine, Mongolian National University of Medical Sciences 0 1 0 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
Neurology Department, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University 1 0 0 0 0 0 0 0 1
Clinical Genetics, CHU Rennes 1 0 0 0 0 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 1 0 0 0 0 0 0 0 1
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences 1 0 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 0 1
Bonnemann Lab, National Institutes of Health 0 1 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 0 1
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 1 0 0 0 0 0 0 0 1
University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, National and Kapodistrian University of Athens 0 0 1 0 0 0 0 0 1
Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocio 1 0 0 0 0 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 0 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 0 1
Motor Neurone Disease Genetics and Therapeutics, Perron Institute for Neurological and Translational Science 0 0 1 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 0 1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 1 0 0 0 0 0 0 0 1
Department of Neurology-Cell Therapy Center, Hanyang University 1 0 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.