ClinVar Miner

Variants studied for dystonic disorder

Included ClinVar conditions (129):
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 risk factor not provided total
711 270 2597 2194 658 1 58 6239

Gene and significance breakdown #

Total genes and gene combinations: 153
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
ATP1A3 70 39 300 480 64 0 18 913
MVP-DT, PRRT2 95 16 232 143 15 0 4 492
CASD1, SGCE 99 15 231 130 22 0 0 483
DCAF17 26 11 128 206 43 0 1 402
CATIP, PNKD 0 0 240 120 49 0 1 392
GCH1 69 19 148 129 25 0 0 376
SLC6A3 9 6 130 199 33 0 0 366
ANO3 8 4 133 113 54 0 0 308
CIZ1 0 0 144 95 45 0 0 284
SLC2A1 37 15 125 54 52 0 2 275
SPR 20 6 72 76 3 0 0 170
THAP1 32 15 71 24 24 0 1 155
TOR1A 6 3 70 47 18 0 9 139
GNAL 12 2 37 42 26 0 3 120
KMT2B 28 28 41 5 7 0 3 105
KCTD17 3 0 40 45 9 0 0 96
DRD2 0 0 26 30 32 0 0 88
PRKRA 1 0 42 27 11 0 0 77
LOC129934069, SPR 3 4 28 36 2 0 0 68
COL6A3 6 4 30 9 12 0 3 62
PNKD 1 0 39 22 2 0 1 61
GCH1, LOC130055692 10 0 24 21 7 0 0 60
DCAF17, METTL8 8 1 19 31 2 0 0 59
SGCE 12 0 34 13 0 0 0 58
TUBB4A 3 5 13 4 27 0 2 53
CHROMR, PRKRA 2 2 27 14 12 0 0 52
ACTB 1 5 2 25 25 0 1 51
LOC129935594, PNKD 2 1 25 15 0 0 2 42
NR4A2 16 10 12 0 0 0 0 38
PNKP 8 5 21 4 2 0 0 38
VAC14 4 2 8 0 6 0 0 20
MECR 8 0 6 0 3 0 2 17
TAF1 2 0 7 5 1 0 1 16
VPS16 6 3 5 0 0 0 0 14
KCTD17, LOC130067340 0 0 7 5 1 0 0 13
BCAP31 5 1 5 0 0 0 1 12
SLC18A2 6 2 3 0 4 0 0 12
LOC130002772, TOR1A 0 0 3 6 2 0 1 11
PDE10A 2 5 1 1 2 0 0 11
ATP1A3, LOC130064543 0 0 6 4 1 0 0 10
WARS2 5 3 1 1 0 0 0 10
EIF2AK2 3 2 6 1 0 0 0 9
TMEM151A 9 0 0 0 0 0 0 9
ANO3, MUC15 0 0 3 2 3 0 0 8
AOPEP 6 1 0 0 0 0 0 7
CACNA1B 0 0 5 1 0 0 0 6
SLC2A1, SLC2A1-DT 2 0 3 0 1 0 0 6
VPS11 0 0 1 0 5 0 0 6
ATM, C11orf65 5 0 0 0 0 0 0 5
KCNN2 1 0 4 0 0 0 0 5
PJVK, PRKRA 0 0 0 1 4 0 0 5
TH 1 3 1 0 0 0 0 5
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 2 0 2 0 0 0 0 4
CATIP, MIR6810, PNKD 0 0 1 3 0 0 0 4
HPCA 3 0 1 0 0 0 0 4
NUP54 4 0 0 0 0 0 0 4
​intergenic 0 3 0 0 0 0 0 3
GCH1, LOC130055688 0 0 0 2 1 0 0 3
PRRT2 2 0 1 0 0 0 0 3
PTPRA, VPS16 1 1 1 0 0 0 0 3
TSPOAP1 3 0 0 0 0 0 0 3
AFG3L2 2 0 0 0 0 0 0 2
ARF3 1 1 0 0 0 0 0 2
C19orf12 2 0 0 0 0 0 0 2
CAD 0 2 0 0 0 0 0 2
CASK 0 2 0 0 0 0 0 2
GCH1, LOC130055686, LOC130055687, LOC130055688, LOC130055689, LOC130055690, LOC130055691, LOC130055692, MIR4308 1 0 1 0 0 0 0 2
GNB1 1 1 0 0 0 0 0 2
IMPDH2 0 2 0 0 0 0 0 2
KCNN2, LOC101927078 1 0 0 1 0 0 0 2
LOC129930369, SLC2A1 0 0 1 1 0 0 0 2
LOC130063295, TUBB4A 1 0 0 0 1 0 0 2
MRE11 0 0 2 0 0 0 0 2
NPC1 0 2 0 0 0 0 0 2
PANK2 1 1 0 0 0 0 0 2
PEX6 2 0 0 0 0 0 0 2
PNKD, TMBIM1 0 0 2 0 0 0 0 2
SHQ1 2 1 0 0 0 0 0 2
AAMP, ABCB6, ANKZF1, ARPC2, ASIC4, ATG9A, BCS1L, CATIP, CDK5R2, CFAP65, CHPF, CNOT9, CNPPD1, CRYBA2, CTDSP1, CXCR1, CXCR2, CYP27A1, DES, DNAJB2, DNPEP, FEV, GLB1L, GMPPA, GPBAR1, IHH, MIR26B, MIR375, NHEJ1, OBSL1, PLCD4, PNKD, PRKAG3, PTPRN, RESP18, RETREG2, RNF25, SLC11A1, SLC23A3, SPEG, STK16, STK36, TMBIM1, TMEM198, TTLL4, TUBA4A, USP37, VIL1, WNT10A, WNT6, ZFAND2B, ZNF142 0 0 1 0 0 0 0 1
ABCD1, BCAP31, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, PLXNB3, SRPK3 1 0 0 0 0 0 0 1
ABCD1, BCAP31, PLXNB3 1 0 0 0 0 0 0 1
ACTB, FBXL18 0 1 0 0 0 0 0 1
ACTG2, ALMS1, ANKRD53, ATP6V1B1, AUP1, BOLA3, C2orf78, C2orf81, CCDC142, CCT7, CD207, CLEC4F, CYP26B1, DCTN1, DGUOK, DOK1, DQX1, DUSP11, DYSF, EGR4, EMX1, EXOC6B, FBXO41, FIGLA, HTRA2, INO80B, LBX2, LOXL3, MCEE, MOB1A, MOGS, MPHOSPH10, MRPL53, MTHFD2, NAGK, NAT8, NAT8B, NOTO, PAIP2B, PCGF1, PRADC1, RAB11FIP5, RTKN, SFXN5, SLC4A5, SMYD5, SPR, STAMBP, TET3, TEX261, TLX2, TPRKB, TTC31, VAX2, WBP1, WDR54, ZNF638 1 0 0 0 0 0 0 1
AFG2B 0 1 0 0 0 0 0 1
AFG3L2, ANKRD12, ANKRD62, APCDD1, CEP76, CHMP1B, CIDEA, GNAL, IMPA2, MPPE1, NAPG, NDUFV2, PIEZO2, PPP4R1, PRELID3A, PSMG2, RAB31, RALBP1, SLC35G4, SPIRE1, TUBB6, TWSG1, TXNDC2, VAPA 0 0 1 0 0 0 0 1
AHRR, BRD9, CEP72, CLPTM1L, EXOC3, IRX4, LPCAT1, MRPL36, NDUFS6, NKD2, PDCD6, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 1 0 0 0 0 0 0 1
AK1, ASB6, ASS1, BBLN, C9orf50, C9orf78, CDK9, CERCAM, CFAP157, CIZ1, COQ4, CRAT, DNM1, DOLK, DOLPP1, DPM2, DYNC2I2, EEIG1, ENDOG, ENG, FNBP1, FPGS, FUBP3, GLE1, GOLGA2, GPR107, HMCN2, IER5L, KYAT1, LCN2, LINC02913, LRRC8A, LRSAM1, MIGA2, MIR199B, MIR2861, NAIF1, NCS1, NIBAN2, NTMT1, NUP188, ODF2, PHYHD1, PIP5KL1, PKN3, PRDM12, PRRX2, PTGES, PTGES2, PTPA, PTRH1, SET, SH2D3C, SH3GLB2, SLC25A25, SLC27A4, SPOUT1, SPTAN1, ST6GALNAC4, ST6GALNAC6, STXBP1, SWI5, TBC1D13, TOR1A, TOR1B, TOR2A, TRUB2, TTC16, URM1, USP20, ZDHHC12, ZER1 0 0 1 0 0 0 0 1
ALDOA, ASPHD1, BOLA2B, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf92, CDIPT, DOC2A, HIRIP3, INO80E, KCTD13, MVP, PAGR1, PRRT2, SEZ6L2, TAOK2, TLCD3B, TMEM219 1 0 0 0 0 0 0 1
ANK1, AP3M2, CHRNA6, CHRNB3, DKK4, FNTA, HGSNAT, HOOK3, IKBKB, KAT6A, PLAT, POLB, POMK, RNF170, SLC20A2, SMIM19, THAP1, VDAC3 0 0 1 0 0 0 0 1
ANKRD54, BAIAP2L2, C1QTNF6, C22orf23, CARD10, CBY1, CDC42EP1, CIMIP4, CSF2RB, CSNK1E, CYTH4, DDX17, DMC1, EIF3L, ELFN2, FAM227A, GALR3, GCAT, GGA1, GTPBP1, H1-0, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, LGALS1, LGALS2, MAFF, MFNG, MICALL1, MIR659, MPST, NCF4, NOL12, PDXP, PICK1, PLA2G6, POLR2F, PVALB, RAC2, SH3BP1, SLC16A8, SOX10, SSTR3, SUN2, TMEM184B, TMPRSS6, TOMM22, TRIOBP, TST 0 0 1 0 0 0 0 1
ARFGEF3 0 0 1 0 0 0 0 1
ASB4, BET1, CASD1, COL1A2, DYNC1I1, GNG11, GNGT1, PDK4, PEG10, PON1, PON2, PON3, PPP1R9A, SGCE, TFPI2 1 0 0 0 0 0 0 1
ASPHD1, CDIPT, CDIPTOSP, LOC112352680, LOC121847977, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, MVP, MVP-DT, PAGR1, PRRT2, SEZ6L2 1 0 0 0 0 0 0 1
ATG14, BMP4, CDKN3, CGRRF1, CNIH1, DLGAP5, FBXO34, GCH1, GMFB, KTN1, LGALS3, LINC00520, LOC109433677, LOC110121362, LOC111413016, LOC112268483, LOC112268484, LOC112268485, LOC125024484, LOC125024485, LOC125024486, LOC125024487, LOC125024488, LOC125024489, LOC125024490, LOC126861945, LOC126861946, LOC126861947, LOC126861948, LOC126861949, LOC126861950, LOC126861951, LOC126861952, LOC130055670, LOC130055671, LOC130055672, LOC130055673, LOC130055674, LOC130055675, LOC130055676, LOC130055677, LOC130055678, LOC130055679, LOC130055680, LOC130055681, LOC130055682, LOC130055683, LOC130055684, LOC130055685, LOC130055686, LOC130055687, LOC130055688, LOC130055689, LOC130055690, LOC130055691, LOC130055692, LOC130055693, LOC130055694, LOC130055695, LOC130055696, LOC130055697, LOC130055698, LOC130055699, LOC130055700, LOC130055701, LOC130055702, LOC130055703, LOC130055704, LOC130055705, LOC130055706, LOC130055707, LOC130055708, LOC130055709, LOC130055710, LOC130055711, LOC130055712, LOC130055713, LOC130055714, LOC130055715, LOC130055716, LOC130055717, MAPK1IP1L, MIR4308, PELI2, SAMD4A, SOCS4, TBPL2, WDHD1 1 0 0 0 0 0 0 1
ATM 1 0 0 0 0 0 0 1
ATP4A, CD22, COX6B1, DMKN, ETV2, FAM187B, FFAR1, FFAR2, FFAR3, FXYD1, FXYD3, FXYD5, FXYD7, GAPDHS, GPR42, HAMP, HAUS5, HPN, HSPB6, IGFLR1, KMT2B, KRTDAP, LGI4, LIN37, LSR, MAG, PROSER3, PSENEN, RBM42, SBSN, TMEM147, U2AF1L4, UPK1A, USF2, ZBTB32 1 0 0 0 0 0 0 1
BCAP31, SLC6A8 1 0 0 0 0 0 0 1
BMP4, CDKN3, CGRRF1, CNIH1, GCH1, GMFB, SAMD4A 1 0 0 0 0 0 0 1
CAD, LOC126806171 0 1 0 0 0 0 0 1
CAMK2B 0 1 0 0 0 0 0 1
CASD1, COL1A2, LOC129998822, LOC129998823, LOC129998824, LOC129998825, SGCE 1 0 0 0 0 0 0 1
CCDST, FLG 1 0 0 0 0 0 0 1
CEP104 1 0 0 0 0 0 0 1
CHMP1B, GNAL 1 0 0 0 0 0 0 1
CHROMR, FKBP7, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC129935179, LOC129935180, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, PJVK, PLEKHA3, PRKRA, TTN 0 0 1 0 0 0 0 1
CLPTM1L, SLC6A3, TERT 1 0 0 0 0 0 0 1
CSTB 1 0 0 0 0 0 0 1
DCTN1 0 0 1 0 0 0 0 1
DNMT1 0 0 1 0 0 0 0 1
DRD5 0 0 0 0 0 1 0 1
EBF3, GLRX3, MGMT 0 1 0 0 0 0 0 1
EIF2A 0 0 1 0 0 0 0 1
EIF2B5 1 0 0 0 0 0 0 1
FUS 0 0 1 0 0 0 0 1
GJC2 1 0 0 0 0 0 0 1
GLI3 0 0 1 0 0 0 0 1
GRIA3 0 1 0 0 0 0 0 1
GRIN2B 0 0 0 1 0 0 0 1
HERC2 0 0 1 0 0 0 0 1
INS, TH 0 0 1 0 0 0 0 1
ITPA 0 1 0 0 0 0 0 1
KCNA1 0 1 0 0 0 0 0 1
KCNJ10 0 0 1 0 0 0 0 1
KCNMA1 0 0 0 0 0 0 1 1
KIF22, MAZ, PRRT2 1 0 0 0 0 0 0 1
KIF5A 0 0 1 0 0 0 0 1
KMT2B, LOC130064258 0 0 1 0 0 0 0 1
LOC125467768, PCDH19 0 0 1 0 0 0 0 1
LOC126863256, WDR45 1 0 0 0 0 0 0 1
LOC129931299, WARS2 1 1 1 0 0 0 0 1
LOC129992689, NUP54 0 0 1 0 0 0 0 1
LOC130006887, VPS11 1 0 0 0 0 0 0 1
LOC130058790, MVP-DT, PRRT2 0 0 1 0 0 0 0 1
LOC130058793, LOC130058794, MVP, PRRT2 0 1 0 0 0 0 0 1
MECP2 0 1 0 0 0 0 0 1
MEN1 0 0 1 0 0 0 0 1
MT-CO3 0 0 1 0 0 0 0 1
MT-ND1 0 1 0 0 0 0 0 1
MT-ND4 0 0 1 0 0 0 0 1
MT-ND6 0 1 0 0 0 0 0 1
MYO5A 1 0 0 0 0 0 0 1
PAGR1, PRRT2 1 0 0 0 0 0 0 1
PCDH12, RNF14 0 1 0 0 0 0 0 1
PDE2A 1 0 0 0 0 0 0 1
PNPLA4, PUDP, STS, VCX 1 0 0 0 0 0 0 1
RHOBTB2 1 0 0 0 0 0 0 1
RYR1 0 0 1 0 0 0 0 1
SATB2 0 1 0 0 0 0 0 1
SCN2A 0 1 0 0 0 0 0 1
SETX 0 0 1 0 0 0 0 1
SYNGAP1 0 0 0 0 0 0 1 1
WDR73 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 146
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 382 73 1891 2015 334 0 0 4695
Illumina Laboratory Services, Illumina 3 0 343 63 265 0 0 673
Genome-Nilou Lab 0 0 67 49 196 0 0 312
OMIM 205 0 2 0 0 1 0 208
Fulgent Genetics, Fulgent Genetics 12 5 63 74 9 0 0 163
Baylor Genetics 20 10 46 0 0 0 0 75
Revvity Omics, Revvity 8 2 57 0 0 0 0 67
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 38 25 0 0 0 0 0 63
Mendelics 39 7 2 1 6 0 0 55
Centre for Mendelian Genomics, University Medical Centre Ljubljana 10 9 25 0 1 0 0 45
GeneReviews 2 0 0 0 0 0 41 43
Neuberg Centre For Genomic Medicine, NCGM 3 5 26 0 0 0 0 34
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 10 20 1 0 0 0 33
3billion 11 7 8 3 0 0 0 29
MGZ Medical Genetics Center 9 6 8 0 0 0 0 23
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 1 22 0 0 0 0 23
NIHR Bioresource Rare Diseases, University of Cambridge 11 11 0 0 0 0 0 22
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 5 10 0 0 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 6 3 11 0 0 0 0 20
New York Genome Center 0 1 18 0 0 0 0 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 3 11 2 0 0 0 16
SIB Swiss Institute of Bioinformatics 0 6 9 0 0 0 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 4 0 0 0 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 0 13 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 7 0 0 13
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 3 1 9 0 0 13
Center Lab, King Abdulaziz University 9 0 4 0 0 0 0 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 8 0 0 0 0 11
Institute of Human Genetics, University Hospital of Duesseldorf 6 3 1 0 0 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 8 0 0 10
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 4 0 1 0 0 0 10
Centogene AG - the Rare Disease Company 3 1 5 0 0 0 0 9
Undiagnosed Diseases Network, NIH 4 3 2 0 0 0 0 9
Molecular Genetics, Royal Melbourne Hospital 2 0 4 0 3 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 3 3 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 1 4 0 0 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 1 1 0 0 0 0 7
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 6 0 0 0 0 7
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 1 2 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 3 1 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 6
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 5 0 0 0 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 4 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 0 0 0 0 0 0 6
Solve-RD Consortium 0 6 0 0 0 0 0 6
Athena Diagnostics 0 0 0 0 5 0 0 5
Genetics and Molecular Pathology, SA Pathology 0 1 4 0 0 0 0 5
Genomics England Pilot Project, Genomics England 2 3 0 0 0 0 0 5
MVZ Medizinische Genetik Mainz 1 1 3 0 0 0 0 5
Institute of Human Genetics, University of Goettingen 0 0 4 0 0 0 0 4
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 3 0 1 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 1 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 2 1 0 0 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 1 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 3 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 1 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 1 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 3
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 1 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 0 3
Lifecell International Pvt. Ltd 1 2 0 0 0 0 0 3
UF de génétique clinique, APHP Hôpital Armand Trousseau 0 3 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 3
Suma Genomics, Suma Genomics 0 2 0 1 0 0 0 3
DASA 3 0 0 0 0 0 0 3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 2 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 2 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 1 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 0 0 2
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 1 1 0 0 0 0 0 2
Reproductive Development, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 2 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 0 2
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 1 0 0 2
Neurogenetics, IRCCS Istituto delle Scienze Neurologiche di Bologna 2 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 2 0 0 0 0 0 2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 1 0 0 0 0 0 2
Department of Pediatrics, The University of Tokyo 1 1 0 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 1 1 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 1 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 0 1
Human Molecular Genetics Lab, Quaid-I-Azam University 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 0 1
Applied Translational Genetics Group, University of Auckland 0 1 0 0 0 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 0 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 0 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 0 1 0 0 1
NxGen MDx 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 1
Geriatric Neurology, Shaanxi Provincial People's Hospital 1 0 0 0 0 0 0 1
Anu Suomalainen-Wartiovaara lab, University of Helsinki 0 1 0 0 0 0 0 1
Université Mohamed IV des Sciences de la Santé, Hopital Cheikh Khalifa 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Fatma Al Jasmi Lab, United Arab Emirates University 0 1 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 0 1 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 0 1
School of Medicine, Universitat de Girona 0 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 0 1

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