ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (173):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor not provided total
1863 905 15294 12472 1694 1 3 211 30793

Gene and significance breakdown #

Total genes and gene combinations: 220
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor not provided total
DYNC1H1 26 26 1321 2162 168 0 0 10 3555
SH3TC2 113 39 905 487 131 0 0 15 1564
LMNA 253 105 514 378 22 0 0 5 1229
AARS1 45 14 650 515 44 0 0 3 1218
INF2 20 10 469 667 114 0 0 1 1213
KIF1B 2 1 597 470 58 0 0 0 1108
PLEKHG5 50 15 407 583 48 0 0 4 1098
PRX 54 15 684 365 40 0 0 8 1087
MFN2 132 99 606 307 66 1 0 4 1086
IGHMBP2 112 31 411 521 51 0 0 4 1074
DNM2 18 9 476 454 68 0 0 1 980
NAGLU 127 53 283 443 20 0 0 2 922
TRPV4 23 19 504 358 60 0 0 5 918
FIG4 73 21 396 329 42 0 0 3 808
LRSAM1 41 46 400 280 31 0 0 5 756
SBF2 28 10 402 293 37 0 0 2 742
MORC2 11 10 353 296 32 0 0 2 691
MED25 1 5 312 329 31 0 0 2 660
GARS1 18 11 347 246 36 0 0 11 625
MARS1 4 1 365 224 29 0 0 0 612
FGD4 35 9 338 193 59 0 0 8 608
NDRG1 24 14 249 336 27 0 0 3 608
MTMR2 32 10 242 185 36 0 0 1 484
NEFL 38 10 301 115 25 0 0 8 465
GJB1 74 43 381 13 10 0 0 15 455
GDAP1 69 30 263 86 20 0 0 7 408
TRIM2 3 1 206 189 9 0 0 1 407
BSCL2, HNRNPUL2-BSCL2 22 8 193 153 13 0 0 0 387
LOC101928008, SBF2 10 5 201 147 12 0 0 1 363
YARS1 7 2 207 134 23 0 0 1 362
HSPB1 34 11 179 93 15 0 0 1 300
MPZ 55 36 209 17 14 0 0 25 287
SPG11 20 5 156 32 10 0 0 12 227
GNB4 3 5 110 94 13 0 0 1 221
LITAF 8 6 137 49 25 0 0 8 208
HSPB8 4 1 127 51 15 0 0 2 195
LOC105369149, SBF2 6 5 98 84 7 0 0 1 193
LOC130060903, NAGLU 28 8 56 88 0 0 0 0 179
PDK3 2 0 86 58 24 0 0 0 165
RAB7A 6 1 71 49 17 0 0 0 137
DYNC1H1, LOC126862060 1 0 46 81 4 0 0 0 127
PMP22 24 11 84 10 3 0 0 10 125
SBF1 4 9 43 30 34 0 0 0 116
JAG1 4 0 56 46 5 0 0 0 111
LMNA, LOC126805877 16 14 43 32 2 0 0 0 103
LOC126860531, NDRG1 1 3 24 51 4 0 0 0 80
EGR2 6 0 43 18 8 0 0 8 68
KIF1B, LOC126805614 0 0 34 30 2 0 0 0 64
LMNA, LOC129931597 18 5 26 14 1 0 0 0 63
LOC126805688, YARS1 0 0 41 19 1 0 0 0 60
GDAP1, LOC130000622 10 2 29 18 5 0 0 0 57
DNM2, LOC130063529 0 0 29 21 0 0 0 0 50
IGHMBP2, LOC126861245 4 2 15 25 5 0 0 0 49
LOC130064454, PRX 4 2 24 17 1 0 0 0 47
MME 11 14 16 2 0 0 3 2 46
MPV17 15 22 4 1 1 0 0 1 42
LOC126860330, NEFL 3 1 22 10 1 0 0 0 37
SPTLC1 2 0 20 9 7 0 0 0 37
AIFM1, RAB33A 4 2 14 11 6 0 0 1 35
LOC129929426, MFN2 0 0 27 8 1 0 0 0 34
S100PBP, YARS1 0 0 17 6 11 0 0 0 34
DHTKD1 2 7 14 1 9 0 0 1 32
ATP1A1 6 5 13 0 13 0 0 0 30
NTRK1 0 0 29 1 0 0 0 0 30
TTR 5 2 7 10 5 0 0 0 29
LOC112872299, RAB7A 0 0 13 14 0 0 0 0 27
LOC126805598, PLEKHG5 2 0 8 13 5 0 0 0 27
ARHGAP9, MARS1 0 0 17 8 1 0 0 0 26
NEFH 2 4 15 0 5 0 0 0 26
DNAJB2 2 0 7 14 3 0 0 0 25
LOC126807546, SH3TC2 0 0 13 4 6 0 0 0 23
KIF1B, LOC129388446 0 0 12 9 0 0 0 0 21
SURF1 11 3 5 1 0 0 0 1 21
HK1 2 5 4 1 7 0 0 1 19
LOC130005303, SBF2 1 0 13 6 0 0 0 0 19
KIF1B, LOC129388447 0 0 7 10 1 0 0 0 18
PNKP 2 5 5 4 2 0 0 0 18
MED25, MIR6800 0 0 4 11 2 0 0 0 17
SEPTIN9 0 0 17 0 0 0 0 0 17
HARS1 5 4 7 0 1 0 0 1 16
PRPS1 6 2 2 6 1 0 0 2 16
SLC12A6 5 0 10 0 0 0 0 0 15
KARS1 3 0 7 1 2 0 0 0 13
DYNC1H1, LOC130056502 0 0 7 3 0 0 0 0 10
POLR3B 4 1 1 1 3 0 0 0 10
VCP 3 2 2 0 4 0 0 0 10
GBF1 4 0 5 0 0 0 0 0 9
SETX 0 0 9 0 0 0 0 0 9
FBLN5 5 2 2 0 0 0 0 0 8
LOC130001213, NDRG1 0 0 7 0 1 0 0 0 8
SCN11A 0 0 8 0 0 0 0 0 8
INF2, LOC130056630 0 0 3 3 1 0 0 0 7
ITPR3 3 1 5 0 0 0 0 0 7
MARS1, MIR6758 0 0 2 5 0 0 0 0 7
DNM2, LOC130063529, MIR638 0 0 2 4 0 0 0 0 6
DYNC1H1, LOC125078040 0 0 4 0 2 0 0 0 6
PMP2 3 2 1 0 1 0 0 0 6
DCAF8 1 0 3 1 0 0 0 0 5
DCTN1 0 1 4 0 0 0 0 0 5
DNM2, MIR6793 0 0 0 3 2 0 0 0 5
LOC129929423, MFN2 0 0 5 0 0 0 0 0 5
LOC132088696, S100PBP, YARS1 0 0 1 0 4 0 0 0 5
WNK1 0 0 5 0 0 0 0 0 5
CADM3 1 1 3 0 0 0 0 0 4
DNMT1 0 0 4 0 0 0 0 0 4
GAN 0 0 4 0 0 0 0 0 4
HINT1 0 0 4 0 0 0 0 0 4
LOC130064456, PRX 0 0 4 0 0 0 0 0 4
MIR4497, TRPV4 0 0 3 1 0 0 0 0 4
MPZ, SDHC 0 1 1 0 2 0 0 0 4
RETREG1 0 0 4 0 0 0 0 0 4
ARHGEF10 0 1 2 0 0 0 0 0 3
ATP7A 0 0 3 0 0 0 0 0 3
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 3 0 0 0 0 0 0 0 3
ELP1 0 0 3 0 0 0 0 0 3
LOC114004390, SH3TC2 1 0 2 0 0 0 0 0 3
LOC130002648, LRSAM1 0 0 2 0 1 0 0 0 3
MFN2, PLOD1 0 0 2 0 1 0 0 0 3
MIR6841, NEFL 0 0 2 1 1 0 0 0 3
NGF 0 0 3 0 0 0 0 0 3
PLD3, PRX 2 1 2 0 1 0 0 0 3
REEP1 0 0 3 0 0 0 0 0 3
AIFM1, LOC130068679, RAB33A 0 0 0 2 0 0 0 0 2
ARF1, LOC126806039 0 0 2 0 0 0 0 0 2
ATL1 0 0 2 0 0 0 0 0 2
BICD2 0 0 2 0 0 0 0 0 2
BSCL2 1 0 1 0 0 0 0 0 2
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 2 0 0 0 0 0 0 0 2
COX6A1 1 1 1 0 0 0 0 0 2
DRP2 0 0 1 0 1 0 0 0 2
DST 0 1 1 0 0 0 0 0 2
GDAP1, JPH1, LY96, TMEM70 0 0 2 0 0 0 0 0 2
LMNA, LOC120893162, LOC126805877, LOC129931597, LOC129931598, LOC129931599, LOC129931600 1 0 1 0 0 0 0 0 2
LOC100287944, POLR3B 1 0 1 0 0 0 0 0 2
LOC129390683, SLC12A6 1 0 1 0 0 0 0 0 2
LOC130056971, SPG11 0 0 2 0 0 0 0 0 2
LOC130056973, SPG11 0 0 2 0 0 0 0 0 2
LOC130068067, PDK3 0 0 2 0 0 0 0 0 2
POLG, POLGARF 0 0 2 0 0 0 0 0 2
POLR2F, SOX10 0 0 2 0 0 0 0 0 2
SCN1A, SCN9A 0 0 2 0 0 0 0 0 2
SLC5A7 0 1 1 0 0 0 0 0 2
​intergenic 1 0 0 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 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 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 0 0 1
ACAD9, ACAD9-DT, CFAP92, LOC112872299, LOC126806807, LOC129389132, LOC129937528, LOC129937529, MIR12124, RAB7A 0 0 1 0 0 0 0 0 1
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 0 0 1 0 0 0 0 0 1
ADAM15, ADAR, AQP10, ARHGEF2, ASH1L, ATP8B2, BCAN, BGLAP, C1orf43, CCT3, CFAP141, CHRNB2, CKS1B, CLK2, CRABP2, DAP3, DCST1, DCST2, DPM3, EFNA1, EFNA3, EFNA4, ENTREP3, FDPS, FLAD1, GBA1, GLMP, GON4L, GPATCH4, HAPLN2, HAX1, HCN3, HDGF, IL6R, INSRR, IQGAP3, ISG20L2, KCNN3, KHDC4, KRTCAP2, LAMTOR2, LENEP, LMNA, MEF2D, METTL25B, MEX3A, MIR9-1, MIR9-1HG, MRPL24, MSTO1, MTX1, MUC1, NAXE, NES, NTRK1, PAQR6, PBXIP1, PKLR, PMF1, PMF1-BGLAP, PMVK, PRCC, PYGO2, RAB25, RHBG, RIT1, RUSC1, RXFP4, SCAMP3, SEMA4A, SH2D2A, SHC1, SHE, SLC25A44, SLC50A1, SMG5, SSR2, SYT11, TDRD10, THBS3, TMEM79, TPM3, TRIM46, TSACC, TTC24, UBAP2L, UBE2Q1, UBQLN4, VHLL, YY1AP1, ZBTB7B 0 0 1 0 0 0 0 0 1
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, PPP2R5C, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 0 0 1
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 0 0 1
ADSS1, AHNAK2, AKT1, BRF1, BTBD6, CDCA4, CEP170B, CLBA1, GPR132, INF2, JAG2, NUDT14, PACS2, PLD4, SIVA1, ZBTB42 0 0 1 0 0 0 0 0 1
ADSS1, INF2 0 0 1 0 0 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 0 0 1
AGTRAP, ANGPTL7, C1orf127, C1orf167, CASZ1, CENPS, CENPS-CORT, CLCN6, CLSTN1, CORT, CTNNBIP1, DFFA, DISP3, DRAXIN, EXOSC10, FBXO2, FBXO44, FBXO6, H6PD, KIAA2013, KIF1B, LZIC, MAD2L2, MASP2, MFN2, MIIP, MTHFR, MTOR, NMNAT1, NPPA, NPPB, PEX14, PGD, PIK3CD, PLOD1, RBP7, SLC25A33, SPSB1, SRM, TARDBP, TMEM201, TNFRSF1B, TNFRSF8, UBE4B, UBIAD1, VPS13D 0 0 1 0 0 0 0 0 1
AK9, CD164, FIG4, MICAL1, PPIL6, SMPD2, ZBTB24 0 0 1 0 0 0 0 0 1
AK9, FIG4, MICAL1, ZBTB24 0 0 1 0 0 0 0 0 1
AQP1, CRHR2, GARS1, GHRHR, INMT, MINDY4 0 0 1 0 0 0 0 0 1
ARHGEF10, LOC126860281 0 0 1 0 0 0 0 0 1
ARHGEF2, BCAN, BGLAP, CCT3, CRABP2, DAP3, GLMP, GON4L, GPATCH4, HAPLN2, HDGF, INSRR, IQGAP3, ISG20L2, KHDC4, LAMTOR2, LMNA, MEF2D, METTL25B, MEX3A, MIR9-1, MIR9-1HG, MRPL24, MSTO1, NAXE, NES, NTRK1, PAQR6, PMF1, PMF1-BGLAP, PRCC, RAB25, RHBG, RIT1, RXFP4, SEMA4A, SH2D2A, SLC25A44, SMG5, SSR2, SYT11, TMEM79, TSACC, TTC24, UBQLN4, VHLL, YY1AP1 1 0 0 0 0 0 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, LOC110121262, LOC120893162, LOC121725059, LOC122128442, LOC122128443, LOC122128444, LOC126805876, LOC126805877, LOC129931577, LOC129931578, LOC129931579, LOC129931580, LOC129931581, LOC129931582, LOC129931583, LOC129931584, LOC129931585, LOC129931586, LOC129931587, LOC129931588, LOC129931589, LOC129931590, LOC129931591, LOC129931592, LOC129931593, LOC129931594, LOC129931595, LOC129931596, LOC129931597, LOC129931598, LOC129931599, LOC129931600, MEX3A, MIR6738, RAB25, RIT1, RXFP4, SCARNA4, SNORA80E, SSR2, UBQLN4 0 0 1 0 0 0 0 0 1
ATL3 0 0 1 0 0 0 0 0 1
BGLAP, LMNA, LOC110013312, LOC120893162, LOC126805877, LOC129931597, LOC129931598, LOC129931599, LOC129931600, LOC129931601, LOC129931602, LOC129931603, LOC129931604, LOC129931605, LOC129931606, LOC129931607, LOC129931608, LOC129931609, LOC129931610, LOC129931611, LOC129931612, PMF1, PMF1-BGLAP, SEMA4A, SLC25A44 1 0 0 0 0 0 0 0 1
CCN4, DNAAF11, KCNQ3, NDRG1, PHF20L1, SLA, TG, TMEM71 0 0 1 0 0 0 0 0 1
CCN4, NDRG1, SLA, TG 1 0 0 0 0 0 0 0 1
CDCA2, DOCK5, EBF2, GNRH1, KCTD9, NEFL 1 0 0 0 0 0 0 0 1
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4, ZNF286A 1 0 0 0 0 0 0 0 1
CENPS, CENPS-CORT, CORT, DFFA, KIF1B, PEX14, PGD 0 0 1 0 0 0 0 0 1
CLCN1 0 0 1 0 0 0 0 0 1
CNTNAP2 0 0 1 0 0 0 0 0 1
COASY, HSD17B1, MLX, NAGLU, PSMC3IP 0 0 1 0 0 0 0 0 1
COL12A1 0 0 1 0 0 0 0 0 1
CTDP1 1 0 0 0 0 0 0 0 1
DCTN2 0 0 1 0 0 0 0 0 1
DCTN2, DDIT3, KIF5A, MARS1, MBD6, MIR616 0 0 1 0 0 0 0 0 1
DGAT2 0 0 1 0 0 0 0 0 1
DHX9 0 1 0 0 0 0 0 0 1
DNM1L, FGD4 0 0 1 0 0 0 0 0 1
DNM2, LOC130063529, LOC130063530, LOC130063531, LOC130063532, LOC130063533, LOC130063534, LOC130063535, LOC130063536, MIR4748, MIR638 0 0 1 0 0 0 0 0 1
DYNC1H1, LOC130056499, LOC130056500, PPP2R5C 0 0 1 0 0 0 0 0 1
ELOC, GDAP1, JPH1, LINC01617, LOC126860420, LOC129390012, LOC130000611, LOC130000612, LOC130000613, LOC130000614, LOC130000615, LOC130000616, LOC130000617, LOC130000618, LOC130000619, LOC130000620, LOC130000621, LOC130000622, LY96, TMEM70, UBE2W 0 0 1 0 0 0 0 0 1
EMD 0 1 0 0 0 0 0 0 1
FBXO38 0 1 0 0 0 0 0 0 1
GAN, LOC130059498 0 0 1 0 0 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 0 0 1
HADHB 0 0 1 0 0 0 0 0 1
HARS1, LOC129994848 0 1 0 0 0 0 0 0 1
HSPB3 0 1 0 0 0 0 0 0 1
IFRD1 0 0 1 0 0 0 0 0 1
JPH1 0 0 0 0 1 0 0 0 1
KIAA2013, MFN2, NPPA, NPPB, PLOD1 0 0 1 0 0 0 0 0 1
KIF1A 0 1 0 0 0 0 0 0 1
KIF1B, LOC129929363 0 0 0 1 0 0 0 0 1
KIF5A 0 1 0 0 0 0 0 0 1
LAMA2 0 1 0 0 0 0 0 0 1
LMNA, LOC120893162, LOC129931597, LOC129931598, LOC129931599 1 0 0 0 0 0 0 0 1
LOC101928008, LOC105369149, LOC126861136, LOC130005300, SBF2 0 1 0 0 0 0 0 0 1
LOC126861137, SBF2 0 0 1 0 0 0 0 0 1
LOC126862651, SEPTIN9 0 0 1 0 0 0 0 0 1
LOC126863186, PPP6R2 1 0 0 0 0 0 0 0 1
LOC129929423, MFN2, PLOD1 0 0 0 0 1 0 0 0 1
LOC129933372, MPV17 0 1 0 0 0 0 0 0 1
LOC129993256, LOC129993257, TRIM2 0 0 1 0 0 0 0 0 1
LOC129993734, RETREG1 0 0 1 0 0 0 0 0 1
LOC130001212, NDRG1 1 0 0 0 0 0 0 0 1
LOC130064453, LOC130064454, LOC130064455, PRX 0 0 1 0 0 0 0 0 1
LOC130064453, LOC130064454, PRX 1 0 0 0 0 0 0 0 1
LOC130064453, PRX 0 0 0 1 0 0 0 0 1
MPV17, TRIM54, UCN 1 1 0 0 0 0 0 0 1
MT-ATP6 1 0 0 0 0 0 0 0 1
MT-TL1 0 1 0 0 0 0 0 0 1
MT-TV 1 0 0 0 0 0 0 0 1
MTRFR 0 1 0 0 0 0 0 0 1
MYH14 0 0 1 0 0 0 0 0 1
SACS 0 1 0 0 0 0 0 0 1
SEMA5A 0 0 1 0 0 0 0 0 1
SLC25A46 0 1 0 0 0 0 0 0 1
SPTLC2 0 0 1 0 0 0 0 0 1
TEKT3 0 0 0 0 0 0 0 1 1
TFG 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 166
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor not provided total
Invitae 1363 473 11611 11636 1109 1 0 0 26193
Illumina Laboratory Services, Illumina 5 0 1531 362 651 0 0 0 2522
Molecular Genetics Laboratory, London Health Sciences Centre 62 57 642 833 320 0 0 0 1914
Inherited Neuropathy Consortium 45 18 1084 4 1 0 0 0 1152
Fulgent Genetics, Fulgent Genetics 59 23 342 216 29 0 0 0 669
Genome-Nilou Lab 4 1 152 32 175 0 0 0 364
Inherited Neuropathy Consortium Ii, University Of Miami 11 0 322 0 0 0 0 0 332
OMIM 306 0 1 0 0 0 3 0 310
Genesis Genome Database 0 0 229 0 0 0 0 0 229
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 3 51 66 54 0 0 0 179
Baylor Genetics 41 29 90 0 0 0 0 0 160
Natera, Inc. 6 0 108 17 8 0 0 0 139
GeneReviews 6 0 0 0 0 0 0 114 120
Mendelics 34 22 9 6 12 0 0 0 83
3billion 33 18 17 0 0 0 0 0 68
MGZ Medical Genetics Center 16 29 20 1 0 0 0 0 66
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 66 66
Revvity Omics, Revvity 4 9 49 0 0 0 0 0 62
Neuberg Centre For Genomic Medicine, NCGM 9 12 35 0 0 0 0 0 56
Institute of Human Genetics, University of Leipzig Medical Center 14 13 25 0 0 0 0 0 52
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 9 28 0 1 0 0 0 46
Athena Diagnostics Inc 20 2 0 0 21 0 0 0 43
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 16 13 11 0 0 0 0 0 40
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 11 17 0 0 0 0 0 38
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 4 6 17 0 1 0 0 0 27
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 4 18 0 0 0 0 0 26
GenomeConnect, ClinGen 0 0 0 0 0 0 0 26 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 12 0 0 0 0 0 0 25
CMT Laboratory, Bogazici University 19 4 2 0 0 0 0 0 25
Molecular Genetics, Royal Melbourne Hospital 3 3 18 0 1 0 0 0 25
Institute of Human Genetics, Cologne University 11 6 7 0 0 0 0 0 24
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 14 9 0 0 0 0 0 0 23
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 2 2 17 0 0 0 0 0 21
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 8 13 0 0 0 0 0 0 21
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 17 2 0 0 0 0 21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 2 12 1 0 0 0 0 19
Genomics England Pilot Project, Genomics England 7 12 0 0 0 0 0 0 19
Institute of Human Genetics, University of Goettingen 3 6 7 0 0 0 0 0 16
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 6 8 0 0 0 0 0 14
Genetics and Molecular Pathology, SA Pathology 10 1 2 0 0 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 13 0 0 0 13
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 7 1 0 0 0 0 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 6 0 0 0 11
New York Genome Center 0 0 11 0 0 0 0 0 11
Centogene AG - the Rare Disease Company 3 1 6 0 0 0 0 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 0 5 0 0 0 0 0 10
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 9 0 0 0 0 0 10
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 4 3 3 0 0 0 0 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 2 4 0 0 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 4 1 0 0 0 0 0 9
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 3 2 3 0 0 0 0 0 8
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 4 4 0 0 0 0 0 8
DASA 4 4 0 0 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 2 4 0 0 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 4 0 0 0 0 0 0 7
Northcott Neuroscience Laboratory, ANZAC Research Institute 7 0 0 0 0 0 0 0 7
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 7 0 0 0 0 0 0 7
Institute of Human Genetics, University of Wuerzburg 0 3 4 0 0 0 0 0 7
Human Genetics Bochum, Ruhr University Bochum 2 2 3 0 0 0 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 1 5 0 0 0 0 0 6
UCLA Clinical Genomics Center, UCLA 3 3 0 0 0 0 0 0 6
Institute of Human Genetics, University Hospital of Duesseldorf 2 4 0 0 0 0 0 0 6
Undiagnosed Diseases Network, NIH 3 1 2 0 0 0 0 0 6
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 5 0 0 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 0 1 0 1 0 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 6 6
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 1 4 1 0 0 0 0 0 6
Gemeinschaftspraxis fuer Humangenetik Dresden 0 2 4 0 0 0 0 0 6
Pangenia Genomics, Pangenia Inc. 1 3 2 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 0 0 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 1 0 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 4 1 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 3 1 0 0 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 0 0 5
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 4 4
Laboratory of Applied Genomics, Kongju National University 4 0 0 0 0 0 0 0 4
Cirak Lab, University Hospital Cologne 4 0 0 0 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 1 0 0 0 0 0 4
Breda Genetics srl 0 0 4 0 0 0 0 0 4
Suma Genomics 1 1 1 1 0 0 0 0 4
Institute of Human Genetics, University of Ulm 1 1 1 0 0 0 0 0 3
Department of Medical Genetics, Oslo University Hospital 0 3 0 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 1 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 2 0 0 0 0 0 0 3
Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon 3 0 0 0 0 0 0 0 3
Antonellis Laboratory at Michigan, University of Michigan 0 0 3 0 0 0 0 0 3
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 2 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 0 0 3
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM 1 2 0 0 0 0 0 0 3
Genetics Laboratory, Department of Biology, Semnan University 1 1 1 0 0 0 0 0 3
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 2 0 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 2 0 0 0 0 0 3
Section for Clinical Neurogenetics, University of Tübingen 0 2 1 0 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 1 0 2 0 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 1 2 0 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 0 0 2
Molecular Genetics and RNA Biology, University of Milan 2 0 0 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 2 0 0 0 0 0 0 0 2
Neurology Department, Peking University First Hospital 2 0 0 0 0 0 0 0 2
Human Genetics Unit, University Of Colombo 0 2 0 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 0 0 2
Unit of Genetics and Genomics of Neuromuscular Diseases, Principe Felipe Research Center 2 0 0 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 1 0 0 0 2
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 2 0 0 0 0 0 0 2
IRCCS Fondazione Stella Maris, University of Pisa 2 0 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 0 2
Codex Genetics Limited 1 1 0 0 0 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 0 0 2
Paris Brain Institute, Inserm - ICM 2 0 0 0 0 0 0 0 2
Department of Medical Basic Sciences, Neurosciences and Sense Organs, University of Bari 0 2 0 0 0 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 0 0 2
Uffe Birk Jensen Lab, Aarhus University Hospital 1 0 1 0 0 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 2 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 1 0 0 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 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 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 1 0 0 0 0 0 1
Division of Genomics, Kyushu university 0 1 0 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 0 0 1 0 0 0 0 0 1
Department of Human Genetics, University Hospital Magdeburg 0 1 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 1
Genotek, Genotek Ltd. 0 1 0 0 0 0 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 0 1 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 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
Institute of Bioinformatics 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
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 1
Neurology Laboratory, National Cheng Kung University Hospital 0 1 0 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 1
Human Genetics Research Center, Baqiyatallah University of Medical Sciences 1 0 0 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 0 0 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 0 0 1
Department of Clinical Genetics, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 0 0 1
Pediatric Neurology, Shengjing Hospital of China Medical University 0 1 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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 0 0 0 0 0 1

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