ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (211):
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Gene type:

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
2412 1458 17778 15067 1745 249 36649

Gene and significance breakdown #

Total genes and gene combinations: 252
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DYNC1H1 37 38 1637 2613 171 13 4339
SH3TC2 130 64 870 566 133 15 1635
INF2 25 13 648 794 129 2 1496
LMNA 300 137 622 464 22 7 1481
AARS1 62 19 777 609 45 3 1461
KIF1B 3 1 743 626 58 0 1411
MFN2 154 123 667 349 67 4 1214
PLEKHG5 60 28 422 648 48 7 1196
PRX 62 23 704 432 40 9 1184
IGHMBP2 128 48 416 562 51 3 1146
DNM2 20 11 515 557 69 2 1122
TRPV4 25 21 597 414 60 7 1071
NAGLU 149 83 293 476 20 2 998
FIG4 86 31 399 412 43 3 916
LRSAM1 50 57 441 321 31 6 854
MORC2 14 15 436 371 33 2 854
SBF2 39 15 414 371 38 2 848
MARS1 4 1 456 301 29 1 780
MED25 1 3 310 391 31 2 719
GARS1 21 11 396 271 36 12 698
NDRG1 28 27 273 362 28 4 671
FGD4 46 12 346 219 56 8 650
MPZ 151 81 391 107 14 26 628
MTMR2 37 28 244 226 35 1 545
NEFL 46 12 336 151 25 9 541
GJB1 82 70 395 13 10 15 485
BSCL2, HNRNPUL2-BSCL2 26 10 240 189 13 0 476
TRIM2 4 2 231 220 9 1 465
GDAP1 74 42 295 98 20 7 457
YARS1 7 6 249 158 23 2 429
LOC101928008, SBF2 14 8 213 191 13 2 425
EGR2 15 4 243 132 14 8 390
PMP22 88 31 182 76 16 11 358
HSPB1 36 17 208 103 14 1 342
SPG11 42 73 165 32 10 15 319
GNB4 4 3 126 115 13 3 258
LITAF 8 6 150 59 25 8 229
HSPB8 5 1 141 61 15 2 220
LOC105369149, SBF2 6 6 100 106 7 2 217
JAG1 11 5 137 58 5 0 216
PDK3 2 1 95 81 26 0 199
LOC130060903, NAGLU 33 12 57 94 0 0 192
DYNC1H1, LOC126862060 3 1 59 108 4 0 169
RAB7A 6 1 70 55 18 0 143
SBF1 4 12 58 35 39 1 142
LMNA, LOC126805877 21 15 51 41 2 0 125
LOC126860531, NDRG1 1 5 28 56 4 0 88
MME 25 29 32 2 0 2 84
LMNA, LOC129931597 18 8 33 17 1 0 75
KIF1B, LOC126805614 0 0 40 33 2 0 73
GDAP1, LOC130000622 10 6 34 23 5 0 70
LOC126805688, YARS1 0 0 48 22 1 0 70
MPV17 17 36 9 1 1 1 59
DNM2, LOC130063529 0 0 32 22 0 0 54
LOC130064454, PRX 5 2 26 22 1 0 54
IGHMBP2, LOC126861245 4 2 16 26 5 0 51
SURF1 19 25 5 1 0 1 51
LOC126860330, NEFL 3 1 24 13 1 0 42
ATP1A1 6 8 19 1 13 0 39
AIFM1, RAB33A 4 2 16 11 6 2 38
DHTKD1 5 8 17 1 9 1 38
SLC12A6 8 13 18 1 0 0 38
LOC129929426, MFN2 0 0 29 9 1 0 37
SPTLC1 2 0 20 9 7 0 37
NEFH 2 6 22 0 5 2 36
S100PBP, YARS1 0 0 19 6 11 0 36
ARHGAP9, MARS1 0 0 21 12 1 0 34
NTRK1 0 0 29 1 0 0 30
LOC126805598, PLEKHG5 3 0 9 13 5 0 29
POLR3B 6 9 11 1 3 0 29
TTR 5 2 7 10 5 0 29
LOC112872299, RAB7A 0 0 14 14 0 0 28
ITPR3 3 3 24 0 0 0 27
DNAJB2 2 0 7 14 3 1 26
KIF1B, LOC129388446 0 0 17 8 1 0 26
PNKP 4 7 9 4 2 0 25
GBF1 4 0 20 0 0 0 24
HK1 2 8 5 1 7 1 23
KIF1B, LOC129388447 0 0 9 13 1 0 23
LOC130005303, SBF2 1 0 15 8 0 0 23
PRPS1 6 4 6 6 1 2 21
LOC126807546, SH3TC2 0 0 11 4 5 0 20
MED25, MIR6800 0 0 3 14 2 0 19
SEPTIN9 0 0 18 0 0 0 18
HARS1 6 4 7 0 1 1 16
DYNC1H1, LOC130056502 0 0 10 4 1 0 15
KARS1 3 1 7 1 2 0 14
PMP2 4 3 4 0 1 1 12
FBLN5 5 2 7 0 0 0 11
VCP 4 2 2 0 4 0 11
SCN11A 0 0 8 1 0 0 9
SETX 0 0 9 0 0 0 9
LOC130001213, NDRG1 0 0 7 0 1 0 8
DCAF8 1 0 5 1 0 0 7
DNM2, LOC130063529, MIR638 0 0 2 5 0 0 7
INF2, LOC130056630 0 0 3 3 1 0 7
MARS1, MIR6758 0 0 2 5 0 0 7
CADM3 1 1 5 0 0 0 6
DRP2 1 0 2 0 1 2 6
DYNC1H1, LOC125078040 0 0 4 0 2 0 6
LOC129929423, MFN2 0 0 5 0 1 0 6
ARHGAP19, ARHGAP19-SLIT1 4 1 0 0 0 0 5
DARS2 5 0 0 0 0 0 5
DCTN1 0 1 4 0 0 0 5
DNM2, MIR6793 0 0 0 3 2 0 5
LOC132088696, S100PBP, YARS1 0 0 1 0 4 0 5
MIR4731, PMP22 5 0 0 0 0 0 5
WNK1 0 0 5 0 0 0 5
ATP7A 0 0 3 0 0 1 4
BSCL2 2 0 2 0 0 0 4
COX18 4 0 0 0 0 0 4
DNMT1 0 0 4 0 0 0 4
GAN 0 0 4 0 0 0 4
HINT1 0 0 4 0 0 0 4
JPH1 0 0 2 1 1 0 4
LOC130056973, SPG11 0 2 2 0 0 0 4
LOC130064456, PRX 0 0 4 0 0 0 4
MIR6841, NEFL 0 0 1 2 1 0 4
RETREG1 0 0 4 0 0 0 4
ARHGEF10 0 1 2 0 0 0 3
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 3 0 0 0 0 0 3
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 3 0 0 0 0 0 3
ELP1 0 0 3 0 0 0 3
KIF5A 0 2 0 0 0 1 3
LOC114004390, SH3TC2 1 0 2 0 0 0 3
LOC129390683, SLC12A6 1 0 2 0 0 0 3
LOC130002648, LRSAM1 0 0 2 0 1 0 3
MIR4497, TRPV4 0 0 3 0 0 0 3
NGF 0 0 3 0 0 0 3
PLD3, PRX 2 1 2 0 1 0 3
POLG 0 0 3 0 0 0 3
POLR3B, RFX4 0 1 2 0 0 0 3
REEP1 0 0 3 0 0 0 3
SACS 0 3 0 0 0 0 3
AIFM1, LOC130068679, RAB33A 0 0 0 2 0 0 2
AK9, FIG4, MICAL1, ZBTB24 1 0 1 0 0 0 2
ARF1, LOC126806039 0 0 2 0 0 0 2
ATL1 0 0 2 0 0 0 2
BICD2 0 0 2 0 0 0 2
CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, COX10, HS3ST3B1, LINC02096, LOC101928475, LOC105943586, LOC112529896, LOC125177427, LOC126862511, LOC126862512, LOC126862513, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC132090456, LROMI1, MGC12916, MIR4731, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 1 0 0 0 0 2
COX6A1 1 1 1 0 0 0 2
DNM2, MIR199A1 0 0 2 0 0 0 2
DST 0 1 1 0 0 0 2
GDAP1, JPH1, LY96, TMEM70 0 0 2 0 0 0 2
LMNA, LOC120893162, LOC126805877, LOC129931597, LOC129931598, LOC129931599, LOC129931600 1 0 1 0 0 0 2
LOC100287944, POLR3B 1 1 0 0 0 0 2
LOC129933372, MPV17 0 2 0 0 0 0 2
LOC130056971, SPG11 0 0 2 0 0 0 2
LOC130064453, PRX 0 0 0 2 0 0 2
LOC130068067, PDK3 0 0 2 0 0 0 2
MFN2, PLOD1 0 0 2 0 0 0 2
MPZ, SDHC 0 1 1 0 0 0 2
POLR2F, SOX10 0 0 2 0 0 0 2
SCN1A, SCN9A 0 0 2 0 0 0 2
SLC5A7 0 1 1 0 0 0 2
​intergenic 1 0 0 0 0 0 1
A3GALT2, ADPRS, AGO1, AGO3, AGO4, AIRIM, AK2, AKIRIN1, AKR1A1, ARMH1, ARTN, ATP6V0B, AZIN2, B4GALT2, BEST4, BMP8A, BMP8B, BTBD19, C1orf122, C1orf210, C1orf216, C1orf50, C1orf94, CAP1, CCDC17, CCDC24, CCDC30, CDC20, CDCA8, CFAP144, CFAP57, CITED4, CLDN19, CLSPN, COL8A2, COL9A2, CSF3R, CSMD2, CTPS1, DLGAP3, DMAP1, DNALI1, DPH2, DYNLT4, EBNA1BP2, EDN2, EIF2B3, ELOVL1, EPHA10, ERI3, ERMAP, EVA1B, EXO5, FHL3, FNDC5, FOXJ3, FOXO6, GJA4, GJA9, GJB3, GJB4, GJB5, GNL2, GPBP1L1, GRIK3, GUCA2A, GUCA2B, HECTD3, HEYL, HIVEP3, HMGB4, HPCA, HPCAL4, HPDL, HYI, INPP5B, IPO13, IPP, KCNQ4, KDM4A, KIAA0319L, KIAA0754, KIF2C, KLF17, LSM10, MACF1, MANEAL, MAP7D1, MAST2, MEAF6, MED8, MFSD2A, MIR30C1, MMACHC, MPL, MRPS15, MTF1, MUTYH, MYCBP, MYCL, NASP, NCDN, NDUFS5, NFYC, NT5C1A, OSCP1, OXCT2, P3H1, PABPC4, PHC2, PIK3R3, PLK3, POMGNT1, POU3F1, PPCS, PPIE, PPIH, PPT1, PRDX1, PSMB2, PTCH2, PTPRF, RHBDL2, RIMKLA, RIMS3, RLF, RNF19B, RNF220, RPS8, RRAGC, RSPO1, S100PBP, SCMH1, SF3A3, SFPQ, SH3D21, SLC2A1, SLC6A9, SLFNL1, SMAP2, SMIM12, SNIP1, ST3GAL3, STK40, SVBP, SZT2, TEKT2, TESK2, TFAP2E, THRAP3, TIE1, TMCO2, TMEM125, TMEM35B, TMEM53, TMEM54, TMEM69, TOE1, TRAPPC3, TRIM62, TRIT1, TSPAN1, UROD, UTP11, YARS1, YBX1, YRDC, ZC3H12A, ZFP69, ZFP69B, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF362, ZNF684, ZNF691, ZSCAN20, ZSWIM5 0 0 1 0 0 0 1
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 1
AARS1, COG4, DDX19A, DDX19B, FCSK, IL34, MTSS2, SF3B3, ST3GAL2, VAC14 0 0 1 0 0 0 1
ABAT, ATF7IP2, CARHSP1, CIITA, CLEC16A, DEXI, EMP2, GRIN2A, HAPSTR1, LITAF, NUBP1, PMM2, PRM1, PRM2, PRM3, RMI2, SOCS1, TEKT5, TMEM186, TNP2, TVP23A, USP7 0 0 1 0 0 0 1
ACAD9, ACAD9-DT, CFAP92, LOC112872299, LOC126806807, LOC129389132, LOC129937528, LOC129937529, MIR12124, RAB7A 0 0 1 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 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 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 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 1
ADSS1, AHNAK2, AKT1, BRF1, BTBD6, CDCA4, CEP170B, CLBA1, GPR132, INF2, JAG2, NUDT14, PACS2, PLD4, SIVA1, ZBTB42 0 0 1 0 0 0 1
ADSS1, INF2 0 0 1 0 0 0 1
AFG1L, AK9, ARMC2, BEND3, CD164, CEP57L1, FIG4, FOXO3, MICAL1, MTRES1, NR2E1, OSTM1, PDSS2, PPIL6, QRSL1, RTN4IP1, SCML4, SEC63, SESN1, SMPD2, SNX3, SOBP, ZBTB24 1 0 0 0 0 0 1
AGAP2, APOF, ARHGAP9, ARHGEF25, ATP5F1B, B4GALNT1, BAZ2A, CDK4, CYP27B1, DCTN2, DDIT3, DTX3, EEF1AKMT3, GLI1, GLS2, GPR182, HSD17B6, IL23A, INHBC, INHBE, KIF5A, LRP1, MARCHF9, MARS1, MBD6, METTL1, MIP, MIR616, MYO1A, NAB2, NACA, NDUFA4L2, NEMP1, NXPH4, OS9, PAN2, PIP4K2C, PRIM1, PTGES3, R3HDM2, RBMS2, RDH16, SDR9C7, SHMT2, SPRYD4, STAC3, STAT2, STAT6, TAC3, TIMELESS, TSFM, TSPAN31, ZBTB39 0 0 1 0 0 0 1
AGTRAP, ANGPTL7, C1orf167, CASZ1, CENPS, CENPS-CORT, CIROZ, 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 1
AK9, CD164, FIG4, MICAL1, PPIL6, SMPD2, ZBTB24 0 0 1 0 0 0 1
AMN, ANKRD9, CINP, DYNC1H1, HSP90AA1, MOK, RCOR1, TECPR2, TRAF3, WDR20, ZNF839 0 0 1 0 0 0 1
AQP1, CRHR2, FKBP14, GARS1, GGCT, INMT, MINDY4, MTURN, NOD1, PLEKHA8, ZNRF2 0 0 1 0 0 0 1
AQP1, CRHR2, GARS1, GHRHR, INMT, MINDY4 0 0 1 0 0 0 1
ARHGEF10, LOC126860281 0 0 1 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 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 1
ATF6, CFAP126, DUSP12, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRLA, FCRLB, HSPA6, MPZ, SDHC 0 0 1 0 0 0 1
ATL3, LNCROPM 0 0 1 0 0 0 1
BAG3 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 1
BSCL2, LBHD1, LRRN4CL, UBXN1, UQCC3 0 0 1 0 0 0 1
CCN4, DNAAF11, KCNQ3, NDRG1, PHF20L1, SLA, TG, TMEM71 0 0 1 0 0 0 1
CCN4, NDRG1, SLA, TG 1 0 0 0 0 0 1
CDCA2, DOCK5, EBF2, GNRH1, KCTD9, NEFL 1 0 0 0 0 0 1
CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, COX10, FBXW10B, HS3ST3B1, LINC02096, LOC101928475, LOC105943586, LOC105943587, LOC112529896, LOC125177427, LOC126862511, LOC126862512, LOC126862513, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC132090456, LROMI1, MGC12916, MIR4731, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4, ZNF286A 1 0 0 0 0 0 1
CDRT15, CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
CDRT15, HS3ST3B1, PMP22 1 0 0 0 0 0 1
CDRT4, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
CDRT7, CDRT8, HS3ST3B1, LINC02096, LOC101928475, LOC126862511, LOC126862512, LOC126862513, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LROMI1, MGC12916, MIR4731, PMP22, TEKT3 0 1 0 0 0 0 1
CENPS, CENPS-CORT, CORT, DFFA, KIF1B, PEX14, PGD 0 0 1 0 0 0 1
CLCN1 0 0 1 0 0 0 1
CNTNAP1 0 0 1 0 0 0 1
CNTNAP2 0 0 1 0 0 0 1
COASY, HSD17B1, MLX, NAGLU, PSMC3IP 0 0 1 0 0 0 1
COL12A1 0 0 1 0 0 0 1
COL6A2 0 0 1 0 0 0 1
CTDP1 1 0 0 0 0 0 1
DCTN2 0 0 1 0 0 0 1
DCTN2, DDIT3, KIF5A, MARS1, MBD6, MIR616 0 0 1 0 0 0 1
DGAT2 0 0 1 0 0 0 1
DHX9 0 1 0 0 0 0 1
DNM1L, FGD4 0 0 1 0 0 0 1
DNM2, LOC130063529, LOC130063530, LOC130063531, LOC130063532, LOC130063533, LOC130063534, LOC130063535, LOC130063536, MIR4748, MIR638 0 0 1 0 0 0 1
DYNC1H1, LOC130056499, LOC130056500, PPP2R5C 0 0 1 0 0 0 1
DYNC1H1, PPP2R5C 0 0 1 0 0 0 1
EGR2, JMJD1C, NRBF2 0 0 1 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 1
EMD 0 1 0 0 0 0 1
FBXO38 0 1 0 0 0 0 1
GABRG2 0 0 1 0 0 0 1
GAN, LOC130059498 0 0 1 0 0 0 1
GDAP1, JPH1, LOC126860420, LOC129390012, LOC130000614, LOC130000615, LOC130000616, LOC130000617, LOC130000618, LOC130000619, LOC130000620, LOC130000621, LOC130000622, LY96, TMEM70 0 0 1 0 0 0 1
GLA, RPL36A-HNRNPH2 0 0 1 0 0 0 1
HADHB 0 0 1 0 0 0 1
HARS1, LOC129994848 0 1 0 0 0 0 1
HSPB3 0 1 0 0 0 0 1
IFRD1 0 0 1 0 0 0 1
KIAA2013, MFN2, NPPA, NPPB, PLOD1 0 0 1 0 0 0 1
KIF1A 0 1 0 0 0 0 1
LAMA2 0 1 0 0 0 0 1
LMNA, LOC120893162, LOC129931597, LOC129931598, LOC129931599 1 0 0 0 0 0 1
LOC101928008, LOC105369149, LOC126861136, LOC130005300, SBF2 0 1 0 0 0 0 1
LOC126861137, SBF2 0 0 1 0 0 0 1
LOC126862097, SLC12A6 0 1 0 0 0 0 1
LOC126862651, SEPTIN9 0 0 1 0 0 0 1
LOC126863186, PPP6R2 1 0 0 0 0 0 1
LOC129993256, LOC129993257, TRIM2 0 0 1 0 0 0 1
LOC129993734, RETREG1 0 0 1 0 0 0 1
LOC130001212, NDRG1 1 0 0 0 0 0 1
LOC130002899, SURF1 1 0 0 0 0 0 1
LOC130060307, MIR4731, PMP22 1 0 0 0 0 0 1
LOC130060307, PMP22 0 0 0 0 1 0 1
LOC130064453, LOC130064454, LOC130064455, PRX 0 0 1 0 0 0 1
LOC130064453, LOC130064454, PRX 1 0 0 0 0 0 1
MPV17, TRIM54, UCN 1 1 0 0 0 0 1
MT-ATP6 1 0 0 0 0 0 1
MT-CO1, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TF, MT-TI, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TV, MT-TW, MT-TY 1 0 1 0 0 0 1
MTRFR 0 1 0 0 0 0 1
MYH14 0 0 1 0 0 0 1
PTCH1 0 0 1 0 0 0 1
SCN9A 0 0 1 0 0 0 1
SEC61A1 0 0 1 0 0 0 1
SEMA5A 0 0 1 0 0 0 1
SHANK3 0 0 0 0 1 0 1
SLC25A46 0 1 0 0 0 0 1
SPTLC2 0 0 1 0 0 0 1
SYNE1 0 0 0 0 0 1 1
SYP 0 0 0 0 1 0 1
TEKT3 0 0 0 0 0 1 1
TFG 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 219
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1847 590 13696 14269 1163 0 31565
Illumina Laboratory Services, Illumina 6 0 1421 335 649 0 2395
Molecular Genetics Laboratory, London Health Sciences Centre 62 59 639 833 317 0 1910
Fulgent Genetics, Fulgent Genetics 151 238 686 237 29 0 1341
Inherited Neuropathy Consortium 45 18 1084 4 1 0 1152
Genome-Nilou Lab 4 1 152 32 175 0 364
Inherited Neuropathy Consortium Ii, University Of Miami 11 0 322 0 0 0 332
OMIM 324 0 1 0 0 0 325
Genesis Genome Database 0 0 256 0 0 0 256
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 4 84 88 65 0 247
Natera, Inc. 8 11 148 17 8 0 192
Baylor Genetics 43 35 94 0 0 0 172
Department of Pathology and Laboratory Medicine, Sinai Health System 4 14 112 10 1 0 141
3billion 50 34 45 0 0 0 129
GeneReviews 6 0 0 0 0 114 120
Neuberg Centre For Genomic Medicine, NCGM 20 20 68 0 0 0 108
Kariminejad - Najmabadi Pathology & Genetics Center 21 34 45 0 0 0 100
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 97 97
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 56 29 0 0 0 0 85
Mendelics 36 20 10 6 12 0 84
Revvity Omics, Revvity 4 12 63 0 0 0 79
MGZ Medical Genetics Center 16 29 20 1 0 0 66
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 16 15 28 1 1 0 61
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 18 10 28 1 0 0 57
Institute of Human Genetics, University of Leipzig Medical Center 14 16 26 0 0 0 56
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 9 28 0 1 0 46
Juno Genomics, Hangzhou Juno Genomics, Inc 16 15 11 0 0 0 42
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 16 13 11 0 0 0 40
Next Generation Genetic Polyclinic 9 15 12 0 0 0 36
GenomeConnect, ClinGen 0 0 0 0 0 34 34
First Genomix Gene Laboratory, Genetic Diagnostics Department 10 20 0 0 0 0 30
Athena Diagnostics 16 2 0 0 9 0 27
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 4 6 17 0 1 0 27
Institute of Human Genetics Munich, TUM University Hospital 16 11 0 0 0 0 27
Variantyx, Inc. 12 15 0 0 0 0 27
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 4 18 0 0 0 26
Institute of Human Genetics, Cologne University 11 7 8 0 0 0 26
Molecular Genetics, Royal Melbourne Hospital 3 3 19 0 1 0 26
CMT Laboratory, Bogazici University 19 4 2 0 0 0 25
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 3 3 17 0 0 0 23
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 17 2 0 0 21
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 8 13 0 0 0 0 21
MVZ Martinsried, Medicover Genetics 4 3 14 0 0 0 21
Genomics England Pilot Project, Genomics England 7 12 0 0 0 0 19
Institute of Human Genetics, University of Goettingen 4 6 9 0 0 0 19
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 9 3 0 0 0 19
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 7 9 0 0 0 18
Solve-RD Consortium 0 18 0 0 0 0 18
Human Genetics Bochum, Ruhr University Bochum 2 7 8 0 0 0 17
MVZ Medizinische Genetik Mainz 2 3 12 0 0 0 17
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 6 2 8 0 0 0 16
Institute of Immunology and Genetics Kaiserslautern 2 8 6 0 0 0 16
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 5 5 2 2 0 15
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 6 4 5 0 0 0 15
Institute of Human Genetics, University of Wuerzburg 0 4 11 0 0 0 15
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 8 6 0 0 0 14
New York Genome Center 0 2 12 0 0 0 14
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 2 7 4 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 13 0 13
Genetics and Molecular Pathology, SA Pathology 10 1 2 0 0 0 13
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 3 6 0 0 0 13
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 3 5 0 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 6 0 11
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 5 5 0 0 0 11
CENTOGENE GmbH and LLC - Guiding Precision Medicine 3 1 6 0 0 0 10
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 5 5 0 0 0 0 10
Department of Human Genetics, Hannover Medical School 2 5 3 0 0 0 10
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 4 1 0 0 0 10
Genetic Diseases Diagnostic Center, Koc University Hospital 0 4 6 0 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 1 3 0 1 0 9
Institute of Human Genetics, University Hospital of Duesseldorf 2 5 2 0 0 0 9
Dasa 4 4 0 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 4 0 0 0 0 8
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 3 2 3 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 2 4 0 0 0 8
Northcott Neuroscience Laboratory, ANZAC Research Institute 8 0 0 0 0 0 8
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 6 0 0 0 7
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 3 3 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 4 1 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 4 0 0 0 0 7
Laboratory of Functional Genomics, Research Centre for Medical Genetics 2 2 1 2 0 0 7
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 7 0 0 0 0 7
Undiagnosed Diseases Network, NIH 3 2 2 0 0 0 7
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 5 0 6
Gemeinschaftspraxis fuer Humangenetik Dresden 0 2 4 0 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 6 6
Mayo Clinic Laboratories, Mayo Clinic 0 1 5 0 0 0 6
Medical and Scientific Branch, Hong Kong Genome Institute 1 5 0 0 0 0 6
Pangenia Genomics, Pangenia Inc. 1 3 2 0 0 0 6
UCLA Clinical Genomics Center, UCLA 3 3 0 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 3 1 0 0 0 5
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 4 1 0 0 0 0 5
Dubai Health Genomic Medicine Center, Dubai Health 2 3 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 1 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 4 1 0 0 0 5
Breda Genetics srl, Breda Genetics srl 0 0 4 0 0 0 4
Cirak Lab, University Hospital Cologne 4 0 0 0 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 4 4
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 1 0 0 0 4
Genetics Department, Catlab 0 0 4 0 0 0 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 3 0 0 0 4
Laboratory of Applied Genomics, Kongju National University 4 0 0 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 2 1 0 0 0 4
Suma Genomics 1 1 1 1 0 0 4
Antonellis Laboratory at Michigan, University of Michigan 0 0 3 0 0 0 3
Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon 3 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 2 0 0 0 0 3
Centre for Medical Genetics, Mumbai 0 0 0 3 0 0 3
Centre of Medical Genetics, University Hospital Muenster 1 0 2 0 0 0 3
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 3 0 0 0 0 3
Department of Medical Genetics, Oslo University Hospital 0 3 0 0 0 0 3
Department of Molecular Genetics, Istishari Arab Hospital 1 1 1 0 0 0 3
Genetics Laboratory, Department of Biology, Semnan University 1 1 1 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 1 0 0 0 3
Institute of Human Genetics, University of Ulm 1 1 1 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 1 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 1 2 0 0 0 0 3
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 2 0 0 0 3
Palindrome, Gene Kavoshgaran Aria 3 0 0 0 0 0 3
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 2 0 0 0 3
Section for Clinical Neurogenetics, University of Tübingen 0 2 1 0 0 0 3
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM 1 2 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 2 0 0 0 3
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 1 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 2
Codex Genetics Limited 1 1 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 2 0 0 0 2
Department of Human Genetics, University Hospital Bern, Inselspital 0 2 0 0 0 0 2
Department of Medical Basic Sciences, Neurosciences and Sense Organs, University of Bari 0 2 0 0 0 0 2
Department of Neurology, Shenzhen Hospital, Southern Medical University 0 2 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 2 0 0 0 0 0 2
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 0 2 0 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 2 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Human Genetics Unit, University Of Colombo 0 2 0 0 0 0 2
IRCCS Fondazione Stella Maris, University of Pisa 2 0 0 0 0 0 2
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 2 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 2
Molecular Genetics and RNA Biology, University of Milan 2 0 0 0 0 0 2
Neurology Department, Peking University First Hospital 2 0 0 0 0 0 2
Paris Brain Institute, Inserm - ICM 2 0 0 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 2 0 0 0 0 0 2
Plataforma de Genómica Funcional - SJD, Institut De Recerca Sant Joan De Déu 1 1 0 0 0 0 2
Sadaf Naz Human Genetics Laboratory, University of the Punjab 2 0 0 0 0 0 2
Uffe Birk Jensen Lab, Aarhus University Hospital 1 0 1 0 0 0 2
Unit of Genetics and Genomics of Neuromuscular Diseases, Principe Felipe Research Center 2 0 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 2 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 0 0 1 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 1 0 0 0 0 0 1
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 0 0 0 1
Critical Care Medical Center, Fujian Provincial Hospital 1 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 0 0 1 0 0 0 1
Department of Clinical Genetics, Nationwide Children's Hospital 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
Department of Human Genetics, SALK University Hospital, Paracelsus Medical University Salzburg 0 1 0 0 0 0 1
Department of Human Genetics, University Hospital Magdeburg 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 0 0 1 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 1 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 0 1 0 0 0 0 1
Division of Genomics, Kyushu university 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Genotek, Genotek Ltd. 0 1 0 0 0 0 1
Human Genetics Research Center, Baqiyatallah University of Medical Sciences 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 0 1 0 0 1
Institute of Bioinformatics 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Laboratorio de Diagnóstico Molecular 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Medical Genetics Clinic, University of Catania 0 1 0 0 0 0 1
Medical Genetics Laboratory, Niloo Shiraz Laboratory 0 0 0 0 1 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 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
Navigene Genetic Science Pvt Ltd 0 0 1 0 0 0 1
Neurogenetics, Cyprus Institute of Neurology and Genetics 0 0 1 0 0 0 1
Neurology Laboratory, National Cheng Kung University Hospital 0 1 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 1
Neuromuscular Department, Hannover Medical School 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Pediatric Neurology, Shengjing Hospital of China Medical University 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1

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