ClinVar Miner

Variants studied for dementia

Included ClinVar conditions (242):
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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 affects established risk allele risk factor other not provided total
2899 1959 9414 9348 2020 36 1 7 3 518 24243

Gene and significance breakdown #

Total genes and gene combinations: 357
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects established risk allele risk factor other not provided total
ABCD1 285 202 360 529 106 0 0 0 0 4 1331
ARSA 220 192 331 409 44 0 0 0 1 311 1181
DNMT1 7 6 492 566 86 0 0 0 0 1 1104
HEXA 198 154 365 456 25 35 0 0 2 1 1088
CLN3 120 147 340 485 16 0 0 0 0 1 1019
CYP27A1 148 110 358 454 24 0 0 0 0 3 992
PLA2G6 128 85 300 442 24 0 0 0 0 1 890
ATP13A2 43 27 429 382 50 0 0 0 0 3 867
PSAP 45 27 277 448 31 0 0 0 0 0 783
HEXB 132 98 155 372 21 0 0 0 0 1 706
CLN6 84 58 252 318 25 0 0 0 0 3 676
SQSTM1 31 5 302 211 32 0 0 0 0 0 573
CTSD 31 9 211 305 21 0 0 0 0 0 554
GRN 78 14 264 196 25 0 0 0 0 3 548
CLN8 54 56 214 214 9 0 0 0 0 4 502
VCP 22 19 166 267 35 0 0 0 0 1 489
CLN5 69 15 190 196 13 0 0 0 0 0 472
CP 70 9 222 149 43 0 0 0 0 2 456
VPS13A 38 34 218 93 105 0 0 0 0 1 442
PANK2 80 38 119 187 12 0 0 0 0 5 411
DCAF17 27 12 128 206 43 0 0 0 0 1 403
FUS 27 9 183 114 53 0 0 0 0 0 371
PSEN1 83 44 159 70 36 0 0 0 0 14 371
PDGFRB 5 1 90 177 80 0 0 0 0 2 351
TBK1 55 17 164 95 29 0 0 0 0 1 348
APP 19 4 152 142 40 0 0 0 0 4 333
TPP1 51 79 184 18 26 0 0 0 0 28 332
DNAJC5 4 0 158 113 63 0 0 0 0 0 331
WDR45 70 41 76 101 27 0 0 0 0 3 305
KCND3 12 13 109 127 24 0 0 0 0 0 278
ITPR1 13 20 126 47 79 0 0 0 0 3 269
HNRNPA2B1 1 2 68 168 23 0 0 0 0 0 262
MAPT 26 8 101 90 30 0 0 0 0 0 249
COASY 20 7 123 82 12 0 0 0 0 1 241
PSEN2 9 2 95 75 32 0 0 0 0 2 197
TARDBP 18 16 95 62 17 0 0 0 0 16 195
CHCHD10 3 2 104 69 10 0 0 0 0 2 186
LOC130065345, PANK2 14 3 66 110 9 0 0 0 0 0 186
SPTBN2 6 14 101 35 21 0 0 0 0 2 171
DYNC1H1 0 0 76 40 51 0 0 0 0 0 167
C19orf12 22 14 87 17 35 0 0 0 0 4 164
CAMTA1 22 20 77 30 15 0 0 0 0 1 163
CACNA1A 27 32 49 14 20 0 0 0 0 17 149
FTL 17 4 79 24 8 0 0 0 0 7 128
GBA1, LOC106627981 60 45 21 5 2 0 0 1 0 1 121
CHMP2B 6 0 65 33 22 0 0 0 0 8 120
SLC20A2 24 19 39 16 32 0 0 0 0 2 119
PRKCG 26 21 38 10 18 0 0 0 0 15 114
TGM6 8 5 45 21 37 0 0 0 0 0 110
CLN5, LOC130009913 10 4 34 58 4 0 0 0 0 0 108
CTSF 13 10 34 39 17 0 0 0 0 1 108
TTBK2 3 4 48 19 26 0 0 0 0 3 100
CACNA1G 3 16 64 4 9 0 0 0 0 1 97
CTSD, PRADX 3 3 41 46 3 0 0 0 0 0 91
ATP1A3 10 12 10 11 50 0 0 0 0 0 89
LOC126863256, WDR45 23 11 22 26 7 0 0 0 0 0 85
PDYN 4 1 52 9 20 0 0 0 0 0 83
AFG3L2 14 8 29 11 16 0 0 0 0 12 81
FGF14 11 2 36 13 17 0 0 0 0 0 78
C9orf72 0 0 44 4 23 0 0 0 0 0 71
DNMT1, LOC126862853 1 1 14 42 8 0 0 0 0 0 63
DCAF17, METTL8 8 1 19 31 2 0 0 0 0 0 59
SNCA 6 0 21 28 4 0 0 0 0 1 59
CCDC88C 1 2 19 9 8 0 0 0 0 1 40
LOC129995449, SQSTM1 0 2 12 24 1 0 0 0 0 0 39
MYORG 10 11 23 1 2 0 0 0 0 0 39
CDH23, PSAP 0 0 4 21 11 0 0 0 0 0 36
KCNC3 4 2 16 8 4 0 0 0 0 0 32
CP, HPS3 0 2 13 11 6 0 0 0 0 0 30
FAT2, SLC36A1 2 0 17 2 11 0 0 0 0 0 30
DNMT1, LOC130063472 0 0 13 13 1 0 0 0 0 0 27
GRN, LOC125177489 7 0 10 10 1 0 0 0 0 0 27
PUM1 4 4 15 1 3 0 0 0 0 1 27
ANXA11 1 0 1 1 23 0 0 0 0 0 26
GRM1 3 0 9 7 5 0 0 0 0 0 24
JMJD8, STUB1 7 7 7 1 1 0 0 0 0 0 23
XK 9 0 8 0 0 0 0 0 0 4 20
CTSD, LOC130005119 0 0 13 6 0 0 0 0 0 0 19
PPT1 12 5 1 0 0 0 0 0 0 0 18
FAT2 0 1 3 1 12 0 0 0 0 0 17
FTL, GYS1 0 0 1 13 2 0 0 0 0 0 16
SAMD9L 1 1 9 5 0 0 0 0 0 0 16
APP, LOC126653330 0 0 8 7 0 0 0 0 0 0 15
ITPR1, LOC126806590 3 4 5 0 4 0 0 0 0 0 15
MME 5 2 5 2 0 0 0 0 0 1 15
AFG3L2, TUBB6 0 0 9 0 5 0 0 0 0 0 14
DNMT1, LOC107080555 0 0 3 9 2 0 0 0 0 0 14
LOC130000303, SLC20A2, SMIM19 0 0 12 0 1 0 0 0 0 0 13
PDGFB 5 4 4 0 0 0 0 0 0 0 13
TMEM240 6 3 6 0 1 0 0 0 0 0 13
XPR1 4 1 6 1 1 0 0 0 0 0 13
EEF2 1 1 7 0 2 0 0 0 0 1 12
HFE 3 2 7 0 0 0 0 0 0 0 12
CRAT 1 1 6 2 2 0 0 0 0 1 11
ELOVL5 2 0 7 1 0 0 0 0 0 3 11
APOE 1 2 5 3 0 0 1 1 0 0 10
ATXN2 0 0 3 3 2 0 0 1 0 1 10
ATP13A2, LOC129929540 0 0 5 4 0 0 0 0 0 0 9
CAMTA1, LOC126805603 1 0 6 1 0 0 0 0 0 1 9
CHMP2B, POU1F1 0 0 1 2 6 0 0 0 0 0 9
ELOVL4 3 2 2 1 1 0 0 0 0 0 8
GFM2, HEXB 1 0 5 2 1 0 0 0 0 0 8
JAM2 8 0 0 0 0 0 0 0 0 0 8
MFSD8 4 4 0 0 0 0 0 0 0 0 8
STUB1 3 4 2 0 0 0 0 0 0 0 8
​intergenic 7 0 0 0 1 0 0 0 0 0 7
ATN1, LOC109461484 2 0 0 3 2 0 0 0 0 0 7
C19orf12, LOC130064129 0 0 5 1 1 0 0 0 0 0 7
DYNC1H1, LOC126862060 0 0 4 2 1 0 0 0 0 0 7
MASP2, TARDBP 0 0 1 3 4 0 0 0 0 0 7
NPHP3-ACAD11, UBA5 3 2 1 0 1 0 0 0 0 0 7
NPTX1 4 2 1 0 0 0 0 0 0 0 7
SNCB 2 1 4 0 1 0 0 0 0 1 7
TRPC3 2 0 4 0 1 0 0 0 0 0 7
ATXN1, LOC108663993 1 0 1 2 2 0 0 0 0 0 6
ATXN10, LOC107181287, LOC108660404 4 0 0 0 1 0 0 0 0 1 6
CACNA1A, LOC108663985 1 0 0 2 3 0 0 0 0 0 6
COASY, LOC130060908 0 0 3 1 1 0 0 0 0 1 6
DAB1 1 0 4 0 1 0 0 0 0 0 6
DYNC1H1, LOC125078040 0 0 3 1 2 0 0 0 0 0 6
FAT1 0 0 6 0 0 0 0 0 0 0 6
GBA1 4 0 2 0 0 0 0 0 0 0 6
LOC121331331, VPS13A 0 0 4 0 2 0 0 0 0 0 6
NAA60 6 0 0 0 0 0 0 0 0 0 6
PNPT1 3 2 2 0 0 0 0 0 0 0 6
ARSA, LOC130067887 0 0 4 0 1 0 0 0 0 0 5
ATXN10 0 0 4 1 0 0 0 0 0 0 5
ATXN7 1 0 3 0 1 0 0 0 0 0 5
HNRNPA1 1 1 2 1 0 0 0 0 0 0 5
LOC108663996, TBP 2 0 1 1 1 0 0 0 0 0 5
NOS3 0 0 3 1 1 0 0 0 0 0 5
REPS1 2 0 0 3 0 0 0 0 0 0 5
ADAM10 0 0 1 1 0 0 0 2 0 0 4
ATP1A3, LOC130064543 0 0 3 0 1 0 0 0 0 0 4
ATXN1 0 0 2 1 1 0 0 0 0 0 4
ATXN3, LOC108663987 2 0 0 0 2 0 0 0 0 0 4
FTL, LOC130064891 0 0 4 0 0 0 0 0 0 0 4
FTL, LOC130064892 0 0 1 2 1 0 0 0 0 0 4
ITPR1, LOC129936059 0 0 3 0 1 0 0 0 0 0 4
JPH3 0 0 3 1 0 0 0 0 0 0 4
KCTD7 1 3 0 0 0 0 0 0 0 0 4
KIF26B 1 0 3 0 0 0 0 0 0 0 4
MPO 0 1 2 1 0 0 0 0 0 0 4
PLD3 1 0 4 0 0 0 0 0 0 0 4
SETX 0 3 1 0 0 0 0 0 0 0 4
SLC20A2, SMIM19 0 0 2 0 2 0 0 0 0 0 4
ARSB 3 0 0 0 0 0 0 0 0 0 3
ATN1 1 1 1 0 0 0 0 0 0 0 3
ATXN2, LOC130008791 1 0 0 2 1 0 0 0 0 0 3
ATXN2, LOC130008792 0 0 1 0 2 0 0 0 0 0 3
ATXN7, LOC108660406, LOC129936979 1 0 1 0 1 0 0 0 0 0 3
C9orf72, LOC109504728, LOC129929032 2 0 0 0 1 0 0 0 0 0 3
CHMP2B, LOC129937086 0 0 2 0 1 0 0 0 0 0 3
COL4A1 0 0 3 0 0 0 0 0 0 0 3
CSF1R 0 3 0 0 0 0 0 0 0 0 3
DNAJC5, LOC130066405 0 0 3 0 0 0 0 0 0 0 3
ERBB4 0 1 2 0 0 0 0 0 0 0 3
FA2H 1 2 0 0 0 0 0 0 0 0 3
FTL, GYS1, LOC130064893 0 0 0 3 0 0 0 0 0 0 3
HEXB, LOC129994060, LOC129994061, LOC129994062 3 0 0 0 0 0 0 0 0 0 3
IFIH1 0 0 3 0 0 0 0 0 0 0 3
KCNC3, LOC111811967 1 0 2 0 0 0 0 0 0 0 3
LOC109504727, LOC130065308, NOP56 2 0 0 0 1 0 0 0 0 0 3
MT-ND4 0 0 3 0 0 0 0 0 0 0 3
PLD3, PRX 2 0 0 0 1 0 0 0 0 0 3
ABCA7 0 0 0 0 0 0 0 2 0 0 2
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PTK6, RTEL1, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, ZBTB46, ZGPAT 0 0 2 0 0 0 0 0 0 0 2
ANG, EGILA, RNASE4 0 1 1 0 0 0 0 0 0 0 2
ANXA11, LOC126860977 0 0 0 0 2 0 0 0 0 0 2
APP, APP-DT 0 0 1 2 0 0 0 0 0 0 2
BEAN1 1 0 0 0 1 0 0 0 0 0 2
BEST1, FTH1 2 0 0 0 0 0 0 0 0 0 2
C1R 0 0 2 0 0 0 0 0 0 0 2
C22orf15, CHCHD10 0 0 2 0 0 0 0 0 0 0 2
CACNA1A, LOC126862865 0 1 0 1 0 0 0 0 0 0 2
CCM2 0 0 2 0 0 0 0 0 0 0 2
CHMP2B, LOC129937085 0 0 2 0 0 0 0 0 0 0 2
CHRNB4 0 2 0 0 0 0 0 0 0 0 2
DNMT1, SHFL 1 0 1 0 0 0 0 0 0 0 2
EEF2, LOC130063169 0 0 1 0 1 0 0 0 0 0 2
FGF14, ITGBL1 1 0 1 0 0 0 0 0 0 0 2
HTRA1 0 0 2 0 0 0 0 0 0 0 2
LOC112695092, PLA2G6 0 0 1 0 1 0 0 0 0 0 2
LOC129932678, PSEN2 0 0 0 1 1 0 0 0 0 0 2
MARCHF4 0 0 1 1 0 0 0 0 0 0 2
MEF2C 0 1 1 0 0 0 0 0 0 0 2
MRE11 0 0 2 0 0 0 0 0 0 0 2
NOP56 0 1 1 0 0 0 0 0 0 0 2
NOTCH3 0 1 1 0 0 0 0 0 0 0 2
PPP2R2B 0 0 2 0 0 0 0 0 0 0 2
SLC25A24 0 1 1 0 0 0 0 0 0 0 2
SUMF1 0 1 1 0 0 0 0 0 0 0 2
TREM2 1 1 0 0 0 0 0 0 0 0 2
VPS13C 0 0 2 0 0 0 0 0 0 0 2
AADACL3, AADACL4, CFAP107, DHRS3, MFN2, MIIP, PLOD1, PRAMEF1, PRAMEF11, PRAMEF12, TNFRSF1B, TNFRSF8, VPS13D 0 0 1 0 0 0 0 0 0 0 1
AAGAB, C15orf61, CALML4, CLN6, CORO2B, DIS3L, FEM1B, IQCH, ITGA11, LCTL, MAP2K1, MAP2K5, MEGF11, PIAS1, RAB11A, RNU6-1, RPL4, SKOR1, SMAD3, SMAD6, SNAPC5, TIPIN, ZWILCH 0 0 1 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, AVPR2, BCAP31, BGN, CCNQ, DUSP9, HAUS7, HCFC1, IDH3G, IRAK1, L1CAM, MAGEA1, MECP2, NAA10, NSDHL, PDZD4, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RENBP, SLC6A8, SRPK3, SSR4, TMEM187, TREX2, ZFP92, ZNF185, ZNF275 0 0 1 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, F8, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, MPP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BRCC3, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, F8, F8A1, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, MPP1, MTCP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RAB39B, RENBP, RPL10, SLC10A3, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A, VBP1 0 0 1 0 0 0 0 0 0 0 1
ABCD1, BCAP31 0 1 0 0 0 0 0 0 0 0 1
ABCD1, BCAP31, PLXNB3 1 0 0 0 0 0 0 0 0 0 1
ABCD1, BCAP31, SLC6A8 1 0 0 0 0 0 0 0 0 0 1
ABCD1, LOC130068831 0 0 1 0 0 0 0 0 0 0 1
ABCD1, PLXNB3 1 1 0 0 0 0 0 0 0 0 1
ABHD18, MFSD8 0 1 0 0 0 0 0 0 0 0 1
ADAM33, ADISSP, ADRA1D, AP5S1, ATRN, AVP, BMP2, C20orf141, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, DDRGK1, DNAAF9, EBF4, FASTKD5, FERMT1, GFRA4, GNRH2, GPCPD1, HSPA12B, IDH3B, ITPA, LRRN4, LZTS3, MAVS, MCM8, MIR103A2, MIR1292, MRPS26, NOP56, OXT, PANK2, PCED1A, PCNA, PDYN, PRND, PRNP, PROKR2, PTPRA, RASSF2, RNF24, SHLD1, SIGLEC1, SLC23A2, SLC4A11, SMOX, SNRPB, SPEF1, STK35, TGM3, TGM6, TMC2, TMEM230, TMEM239, TRMT6, UBOX5, VPS16, ZNF343 0 0 1 0 0 0 0 0 0 0 1
ADAMTS1, ADAMTS5, APP, ATP5PF, BTG3, C21orf91, CHODL, CXADR, CYYR1, GABPA, HSPA13, JAM2, LIPI, MIR125B2, MIR155, MIR99A, MIRLET7C, MRPL39, NCAM2, NRIP1, POTED, RBM11, SAMSN1, TMPRSS15, USP25 1 0 0 0 0 0 0 0 0 0 1
ADAMTS1, ADAMTS5, APP, ATP5PF, CYYR1, GABPA, JAM2, MIR155, MRPL39 1 0 0 0 0 0 0 0 0 0 1
ADAMTS2, CANX, CBY3, GRM6, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SPATA31J1, SQSTM1, ZNF354C, ZNF879 0 0 1 0 0 0 0 0 0 0 1
ADAMTS2, CANX, CBY3, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SPATA31J1, SQSTM1 0 0 1 0 0 0 0 0 0 0 1
ADM2, ALG12, ARSA, BRD1, CHKB, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 1 0 0 0 0 0 0 0 0 0 1
ADPGK, ARIH1, BBS4, CD276, CELF6, GOLGA6B, GRAMD2A, HCN4, HEXA, INSYN1, LOXL1, MYO9A, NEO1, NPTN, NR2E3, PARP6, PKM, REC114, SENP8, TBC1D21, TMEM202 1 0 0 0 0 0 0 0 0 0 1
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, HEXA, NEO1, TMEM202 0 0 1 0 0 0 0 0 0 0 1
AGTR1, ANKUB1, COMMD2, CP, CPA3, CPB1, GYG1, HLTF, HPS3, RNF13, TM4SF1, TM4SF18, TM4SF4, WWTR1 1 0 0 0 0 0 0 0 0 0 1
AKAP4, ARAF, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CDK16, CFP, CLCN5, DGKK, EBP, ELK1, ERAS, FOXP3, FTSJ1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, INE1, KCND1, LINC01560, MAGIX, MIR502, MIR532, NDUFB11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM10, RBM3, SHROOM4, SLC35A2, SLC38A5, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SUV39H1, SYN1, SYP, TBC1D25, TFE3, TIMM17B, TIMP1, UBA1, USP11, USP27X, UXT, WAS, WDR13, WDR45, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81 0 0 1 0 0 0 0 0 0 0 1
AKAP4, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CLCN5, DGKK, EBP, ERAS, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, KCND1, MAGIX, MIR502, MIR532, NUDT10, NUDT11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM3, SHROOM4, SLC35A2, SUV39H1, SYP, TBC1D25, TFE3, TIMM17B, USP27X, WAS, WDR13, WDR45 0 0 1 0 0 0 0 0 0 0 1
ANKDD1B, ANKRD31, CERT1, FAM169A, GCNT4, GFM2, HEXB, HMGCR, NSA2, POC5, POLK 0 0 1 0 0 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 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 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 1 0 0 0 0 0 0 0 0 0 1
AP2A2, ASCL2, BRSK2, C11orf21, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, HRAS, IFITM10, IGF2, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LRRC56, LSP1, MIR210, MIR210HG, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, PHRF1, PIDD1, PNPLA2, POLR2L, RASSF7, RPLP2, SCT, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSPAN4, TSSC4 0 0 1 0 0 0 0 0 0 0 1
APBB1, ARFIP2, C11orf42, CAVIN3, CCKBR, CNGA4, DNHD1, FHIP1B, HPX, ILK, OR52B2, OR52E4, OR52E6, OR52E8, OR52L1, OR52N1, OR52N2, OR52N4, OR52N5, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, RRP8, SMPD1, TAF10, TIMM10B, TPP1, TRIM22, TRIM3 0 0 1 0 0 0 0 0 0 0 1
APOBR, ATP2A1, ATXN2L, CD19, CLN3, EIF3C, EIF3CL, GSG1L, GTF3C1, IL21R, IL27, KATNIP, LAT, NFATC2IP, NPIPB6, NUPR1, RABEP2, SBK1, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM, XPO6 1 0 0 0 0 0 0 0 0 0 1
APOBR, ATP2A1, ATXN2L, CD19, CLN3, EIF3C, IL27, NUPR1, RABEP2, SGF29, SH2B1, SULT1A1, SULT1A2, TUFM 1 0 0 0 0 0 0 0 0 0 1
APOBR, CLN3, IL27, LOC126862326, LOC130058727, LOC130058728, LOC130058729, LOC130058730, NUPR1, SGF29, SULT1A2 1 0 0 0 0 0 0 0 0 0 1
APP, GABPA 1 0 0 0 0 0 0 0 0 0 1
ARHGEF10, CLN8 1 0 0 0 0 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 0 0 1
ARSA, CHKB, MAPK8IP2 1 0 0 0 0 0 0 0 0 0 1
ARSB, LOC129994126 0 1 0 0 0 0 0 0 0 0 1
ASB16, ATXN7L3, G6PC3, GRN, HDAC5, HROB, LSM12, RUNDC3A, SLC25A39, SLC4A1, TMUB2, UBTF 0 0 1 0 0 0 0 0 0 0 1
ASCC1, CDH23, CHST3, PSAP, SPOCK2, VSIR 0 0 1 0 0 0 0 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 1 0 0 0 0 0 0 0 1
ATXN10, LOC130067689 0 0 1 0 0 0 0 0 0 0 1
ATXN2, LOC130008791, LOC130008792 1 0 0 0 0 0 0 0 0 1 1
ATXN3 0 0 0 0 0 0 0 0 0 1 1
ATXN8, ATXN8OS 1 0 0 0 0 0 0 0 0 0 1
ATXN8, ATXN8OS, LOC109461478 0 0 0 0 1 0 0 0 0 0 1
ATXN8OS 0 1 0 0 0 0 0 0 0 0 1
CACNA1A, LOC126862864 1 1 0 0 0 0 0 0 0 0 1
CACNA1A, LOC126862866 0 0 0 1 0 0 0 0 0 0 1
CACNA1F, CCDC120, CCDC22, CLCN5, EBP, ERAS, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, KCND1, MAGIX, MIR502, MIR532, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM3, SLC35A2, SUV39H1, SYP, TBC1D25, TFE3, TIMM17B, USP27X, WAS, WDR13, WDR45 0 0 1 0 0 0 0 0 0 0 1
CAMTA1, LOC129929266 0 0 0 1 0 0 0 0 0 0 1
CCDC88C, LOC130056326 0 0 0 0 1 0 0 0 0 0 1
CCNF 0 1 0 0 0 0 0 0 0 0 1
CDH1 0 0 0 1 0 0 0 0 0 0 1
CFAP47, CYBB, DMD, DYNLT3, FAM47A, FAM47B, FAM47C, LANCL3, LOC101928627, LOC121627964, LOC126863237, LOC129391297, LOC130068090, LOC130068091, LOC130068092, LOC130068093, LOC130068094, LOC130068095, MAGEB16, MIR3915, MIR548F5, PRRG1, TMEM47, XK 1 0 0 0 0 0 0 0 0 0 1
CHRNA4 0 1 0 0 0 0 0 0 0 0 1
CHRNA6, CHRNB3, FNTA, HOOK3, RNF170, SLC20A2, SMIM19, THAP1 0 1 0 0 0 0 0 0 0 0 1
CLCN1 0 1 0 0 0 0 0 0 0 0 1
CLN5, EDNRB, FBXL3, MYCBP2, SCEL, SLAIN1 1 0 0 0 0 0 0 0 0 0 1
CLN5, LOC126861804, LOC130009913 1 0 0 0 0 0 0 0 0 0 1
CLU 0 0 0 1 0 0 0 0 0 0 1
COL4A2 0 0 1 0 0 0 0 0 0 0 1
COLGALT1 0 0 1 0 0 0 0 0 0 0 1
CRHR1, KANSL1, MAPT, SPPL2C, STH 0 0 1 0 0 0 0 0 0 0 1
CTSD, H19, LSP1, MRPL23, SYT8, TNNI2, TNNT3 0 0 1 0 0 0 0 0 0 0 1
CYP27A1, PRKAG3, WNT6 1 0 0 0 0 0 0 0 0 0 1
DAGLA, MYRF 0 1 0 0 0 0 0 0 0 0 1
DCTN1 0 1 0 0 0 0 0 0 0 0 1
DIAPH1 0 0 1 0 0 0 0 0 0 0 1
DNAJC13 0 0 1 0 0 0 0 0 0 0 1
DUOX2 0 0 1 0 0 0 0 0 0 0 1
DYNC1H1, LOC130056502 0 0 1 0 0 0 0 0 0 0 1
EGOT, ITPR1 0 1 0 0 0 0 0 0 0 0 1
EGOT, ITPR1, ITPR1-DT, LOC112935932, LOC122889020, LOC122889021, LOC129936059, LOC129936060, LOC129936061, LOC129936062, LOC129936063, LOC129936064, LOC129936065, LOC129936066 1 0 0 0 0 0 0 0 0 0 1
ENC1, HEXB, LOC123497911, LOC129994057, LOC129994058, LOC129994059, LOC129994060, LOC129994061, LOC129994062 1 0 0 0 0 0 0 0 0 0 1
EP300 0 0 1 0 0 0 0 0 0 0 1
ERCC4, LOC130058543 0 0 1 0 0 0 0 0 0 0 1
FA2H, LOC130059394 0 1 0 0 0 0 0 0 0 0 1
FAT1, LOC126807255 0 0 1 0 0 0 0 0 0 0 1
FAT2, LOC132089193, SLC36A1 0 0 0 0 1 0 0 0 0 0 1
FGF14, LOC124946331, MIR2681 0 1 0 0 0 0 0 0 0 0 1
FH 1 0 0 0 0 0 0 0 0 0 1
FTL, GYS1, LOC119369037 0 0 0 1 0 0 0 0 0 0 1
GBA1, THBS3 0 0 1 0 0 0 0 0 0 0 1
GLT8D1 0 1 0 0 0 0 0 0 0 0 1
GM2A 1 0 0 0 0 0 0 0 0 0 1
GNA14, VPS13A 1 0 0 0 0 0 0 0 0 0 1
GRID2IP 0 0 1 0 0 0 0 0 0 0 1
GRIN2A 0 0 1 0 0 0 0 0 0 0 1
GRM1, LOC126859821 0 0 0 0 0 0 0 0 0 1 1
HEXA, LOC130057475 1 1 0 0 0 1 0 0 0 0 1
HNRNPA1, LOC117038776 0 0 1 0 0 0 0 0 0 0 1
ITM2B 0 0 1 0 0 0 0 0 0 0 1
ITPR1, ITPR1-DT, LOC112935931, LOC112935932, LOC121725127, LOC122889019, LOC122889020, LOC129936053, LOC129936054, LOC129936055, LOC129936056, LOC129936057, LOC129936058, LOC129936059, LOC129936060, LOC129936061, LOC129936062, LOC129936063, SETMAR, SUMF1 1 0 0 0 0 0 0 0 0 0 1
JMJD8, RHBDL1, STUB1, WDR24 0 0 1 0 0 0 0 0 0 0 1
JPH3, LOC109029536 1 0 0 0 0 0 0 0 0 0 1
KCNC3, LOC130064972 0 0 1 0 0 0 0 0 0 0 1
KIF5A 0 1 0 0 0 0 0 0 0 0 1
KRIT1 0 0 1 0 0 0 0 0 0 0 1
LAMA4 0 0 1 0 0 0 0 0 0 0 1
LOC106694315, MPO 0 1 0 0 0 0 0 0 0 0 1
LOC106694316, MPO 1 0 0 0 0 0 0 0 0 0 1
LOC108660405, PPP2R2B 0 0 0 0 1 0 0 0 0 0 1
LOC108903148, OPTN 0 1 0 0 0 0 0 0 0 0 1
LOC112695092, LOC130067400, LOC130067401, PLA2G6 1 0 0 0 0 0 0 0 0 0 1
LOC112997583, SQSTM1 0 1 0 0 0 0 0 0 0 0 1
LOC114827827, NPPA 0 0 1 0 0 0 0 0 0 0 1
LOC124629354, PRPH, TROAP 0 0 1 0 0 0 0 0 0 0 1
LOC125384566, LOC130065344, LOC130065345, LOC130065346, LOC130065347, PANK2 1 0 0 0 0 0 0 0 0 0 1
LOC125418073, TTC3 0 0 1 0 0 0 0 0 0 0 1
LOC126805680, PUM1 0 0 1 0 0 0 0 0 0 0 1
LOC126806082, SMYD3 0 0 1 0 0 0 0 0 0 0 1
LOC129388763, LOC129932680, PSEN2 1 0 0 0 0 0 0 0 0 0 1
LOC129389225, MMRN1, SNCA 1 0 0 0 0 0 0 0 0 0 1
LOC130001690, VCP 0 0 0 1 0 0 0 0 0 0 1
LOC130005207, TPP1 1 0 0 0 0 0 0 0 0 0 1
LPO, MPO 1 0 0 0 0 0 0 0 0 0 1
LRRK2 0 0 1 0 0 0 0 0 0 0 1
LTC4S, MGAT4B, SQSTM1 0 0 1 0 0 0 0 0 0 0 1
MAPT, STH 0 0 1 0 0 0 0 0 0 0 1
MAVS, MIR103A2, PANK2 1 0 0 0 0 0 0 0 0 0 1
MEFV 0 1 0 0 0 0 0 0 0 0 1
MIR103A2, MIR103B2, PANK2 1 0 0 0 0 0 0 0 0 1 1
MIR103A2, PANK2 1 0 0 0 0 0 0 0 0 0 1
MSH6 0 1 0 0 0 0 0 0 0 0 1
MT-ND1 1 0 0 0 0 0 0 0 0 0 1
MTCL1 0 0 1 0 0 0 0 0 0 0 1
MTHFR 0 0 1 0 0 0 0 0 0 0 1
NID1 0 0 1 0 0 0 0 0 0 0 1
NMNAT2 0 0 1 0 0 0 0 0 0 0 1
NOTCH2NLC 1 0 0 0 0 0 0 0 0 0 1
OBI1, POU4F1 0 0 1 0 0 0 0 0 0 0 1
OPA1 1 0 0 0 0 0 0 0 0 0 1
OPTN 0 1 0 0 0 0 0 0 0 0 1
OTUD5, WDR45 0 1 0 0 0 0 0 0 0 0 1
PCDH11X 0 0 0 1 0 0 0 0 0 0 1
PCNT 0 0 1 0 0 0 0 0 0 0 1
PLCD1 0 0 1 0 0 0 0 0 0 0 1
PLEKHG4 0 0 1 0 0 0 0 0 0 0 1
POLG 0 0 1 0 0 0 0 0 0 0 1
PRDM16 0 0 1 0 0 0 0 0 0 0 1
PRNP 0 0 1 0 0 0 0 0 0 0 1
RUBCN 0 1 0 0 0 0 0 0 0 0 1
SLC9A1 0 0 1 0 0 0 0 0 0 0 1
SMAD4 0 0 1 0 0 0 0 0 0 0 1
SMPD1 1 0 0 0 0 0 0 0 0 0 1
SOD1 1 0 0 0 0 0 0 0 0 0 1
SORCS1 0 1 0 0 0 0 0 0 0 0 1
SPG7 1 0 0 0 0 0 0 0 0 0 1
TBP 0 0 1 0 0 0 0 0 0 0 1
TCIRG1 0 1 0 0 0 0 0 0 0 0 1
THSD1 0 0 1 0 0 0 0 0 0 0 1
TM2D3 0 0 1 0 0 0 0 0 0 0 1
TMEM106B 0 0 1 0 0 0 0 0 0 0 1
TNK1 0 0 1 0 0 0 0 0 0 0 1
TSC2 0 0 1 0 0 0 0 0 0 0 1
TUBA4A 0 0 1 0 0 0 0 0 0 0 1
TUBB2A 0 0 1 0 0 0 0 0 0 0 1
TYROBP 0 0 1 0 0 0 0 0 0 0 1
UBQLN2 0 0 1 0 0 0 0 0 0 0 1
UNC13C 0 0 1 0 0 0 0 0 0 0 1
VPS13D 0 1 0 0 0 0 0 0 0 0 1
ZFHX3 1 0 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 288
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects established risk allele risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1784 491 5974 8466 951 0 0 0 3 0 17669
Illumina Laboratory Services, Illumina 24 12 2086 536 893 0 0 0 0 0 3538
Natera, Inc. 146 30 536 186 140 0 0 0 0 0 1038
Fulgent Genetics, Fulgent Genetics 119 48 304 190 21 0 0 0 0 0 682
OMIM 589 0 2 0 4 36 0 3 0 0 634
Genome-Nilou Lab 42 31 118 31 362 0 0 0 0 0 584
Counsyl 29 273 181 32 1 0 0 0 0 0 516
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 268 190 2 1 0 0 0 0 0 0 461
Baylor Genetics 164 140 122 0 0 0 0 0 0 0 423
Gelb Laboratory, University of Washington 0 0 0 0 0 0 0 0 0 306 306
GeneReviews 126 0 0 0 8 0 0 0 0 135 269
Revvity Omics, Revvity 50 39 95 0 0 0 0 0 0 0 184
Mendelics 80 45 17 12 25 0 0 0 0 0 179
Neuberg Centre For Genomic Medicine, NCGM 36 38 97 0 0 0 0 0 0 0 171
Myriad Genetics, Inc. 29 117 8 0 0 0 0 0 0 0 154
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 58 19 48 3 0 0 0 0 0 0 128
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 63 37 21 0 0 0 0 0 0 0 121
Institute of Human Genetics, University of Leipzig Medical Center 43 33 35 5 0 0 0 0 0 0 116
3billion 43 26 39 8 0 0 0 0 0 0 116
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 26 32 53 0 3 0 0 0 0 0 113
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 25 20 49 2 1 0 0 0 0 0 97
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 69 19 0 0 0 0 0 0 0 0 88
Centre for Mendelian Genomics, University Medical Centre Ljubljana 20 7 49 3 4 0 0 1 0 0 84
Genomic Research Center, Shahid Beheshti University of Medical Sciences 17 14 36 4 2 0 0 0 0 0 73
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 72 0 0 0 0 0 0 0 0 72
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 0 6 33 29 0 0 0 0 0 71
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 2 3 19 36 0 0 0 0 0 62
Centogene AG - the Rare Disease Company 23 6 29 1 0 0 0 0 0 0 59
O&I group, Department of Genetics, University Medical Center of Groningen 15 9 34 0 0 0 0 0 0 0 58
PreventionGenetics, part of Exact Sciences 2 3 23 23 6 0 0 0 0 0 57
MGZ Medical Genetics Center 17 9 27 0 0 0 0 0 0 0 53
Juno Genomics, Hangzhou Juno Genomics, Inc 16 17 20 0 0 0 0 0 0 0 53
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 26 22 0 0 0 0 0 0 0 0 48
New York Genome Center 5 2 38 0 0 0 0 0 0 0 45
Johns Hopkins Genomics, Johns Hopkins University 17 15 12 0 0 0 0 0 0 0 44
Myllykangas group, University of Helsinki 0 1 39 3 0 0 0 0 0 0 43
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 2 35 3 0 0 0 0 0 0 43
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 12 7 22 0 0 0 0 0 0 0 41
Genetic Services Laboratory, University of Chicago 21 17 1 0 0 0 0 0 0 0 39
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 22 10 7 0 0 0 0 0 0 0 39
SIB Swiss Institute of Bioinformatics 3 10 21 2 2 0 0 0 0 0 38
Molecular Genetics, Royal Melbourne Hospital 9 4 18 2 5 0 0 0 0 0 38
Solve-RD Consortium 0 38 0 0 0 0 0 0 0 0 38
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 10 7 15 0 0 0 0 2 0 0 34
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 18 12 4 0 0 0 0 0 0 0 34
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 21 13 0 0 0 0 0 34
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 33 33
Wendy Chung Laboratory, Columbia University Medical Center 13 20 0 0 0 0 0 0 0 0 33
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 7 24 1 0 0 0 0 0 0 0 32
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 16 10 1 0 0 0 0 0 0 0 27
Human Genetics Group at Institute of Prion Diseases London, University College London 10 16 0 0 0 0 0 0 0 0 26
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 1 0 6 17 0 0 0 0 0 25
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 8 17 0 0 0 0 0 0 0 0 25
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 0 24 24
Athena Diagnostics 0 0 0 0 22 0 0 0 0 0 22
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 1 6 15 0 0 0 0 0 0 0 22
Undiagnosed Diseases Network, NIH 11 7 2 0 0 0 0 0 0 0 20
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 8 12 0 0 0 0 0 0 0 0 20
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 3 7 10 0 0 0 0 0 0 0 20
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 9 10 0 0 0 0 0 0 0 0 19
Institute of Human Genetics, University Hospital of Duesseldorf 6 0 13 0 0 0 0 0 0 0 19
Genomics England Pilot Project, Genomics England 4 15 0 0 0 0 0 0 0 0 19
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 19 19
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 9 7 0 0 0 0 0 1 1 0 18
Genetics and Molecular Pathology, SA Pathology 8 6 4 0 0 0 0 0 0 0 18
Human Genetics Bochum, Ruhr University Bochum 5 5 8 0 0 0 0 0 0 0 18
Guerreiro-Bras Laboratory, Van Andel Institute 0 15 0 0 0 0 0 0 0 0 15
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 15 0 0 0 0 0 0 0 15
Institute of Human Genetics, University of Goettingen 1 4 7 0 0 0 0 0 0 0 12
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 8 4 0 0 0 0 0 0 0 0 12
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 9 3 0 0 0 0 0 0 0 0 12
Schule lab, Hertie Institute for Clinical Brain Research 5 0 0 7 0 0 0 0 0 0 12
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 2 1 9 0 0 0 0 0 12
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 7 5 0 0 0 0 0 0 0 0 12
UCLA Clinical Genomics Center, UCLA 3 8 0 0 0 0 0 0 0 0 11
Laboratory of Medical Genetics, University of Torino 0 11 0 0 0 0 0 0 0 0 11
Pars Genome Lab 1 0 1 4 5 0 0 0 0 0 11
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 11 11
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 5 5 0 0 0 0 0 0 0 0 10
Medical Molecular Genetics Department, National Research Center 5 5 0 0 0 0 0 0 0 0 10
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism 9 0 0 0 1 0 0 0 0 0 10
Amsterdam Leukodystrophy Center, Amsterdam UMC 9 1 0 0 0 0 0 0 0 0 10
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 8 0 1 0 0 0 0 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 2 0 7 0 0 0 0 0 0 0 9
Knight Diagnostic Laboratories, Oregon Health and Sciences University 5 1 2 1 0 0 0 0 0 0 9
Center of Genomic medicine, Geneva, University Hospital of Geneva 5 2 2 0 0 0 0 0 0 0 9
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 3 4 0 0 0 0 0 0 0 9
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 2 5 2 0 0 0 0 0 0 0 9
Lifecell International Pvt. Ltd 4 5 0 0 0 0 0 0 0 0 9
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 5 0 4 0 0 0 0 0 0 0 9
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 8 0 0 0 0 0 0 0 0 0 8
Neurometabolisches Labor, University hospital Tuebingen 7 0 0 0 1 0 0 0 0 0 8
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 3 4 0 0 0 0 0 0 0 8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 6 0 0 0 0 0 0 0 8
Suma Genomics 3 3 2 0 0 0 0 0 0 0 8
DASA 3 5 0 0 0 0 0 0 0 0 8
MVZ Medizinische Genetik Mainz 1 0 7 0 0 0 0 0 0 0 8
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 4 3 0 0 0 0 0 0 0 0 7
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 5 2 0 0 0 0 0 0 0 0 7
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 1 3 0 0 0 0 0 0 0 7
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 4 2 0 0 1 0 0 0 0 0 7
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 3 3 0 0 0 0 0 0 0 6
Translational Genetics in Neurodegenerative disease, Karolinska Institutet 6 0 0 0 0 0 0 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 5 1 0 0 0 0 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 3 0 0 0 1 0 0 0 6
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 0 4 0 1 0 0 0 0 0 6
Codex Genetics Limited 5 1 0 0 0 0 0 0 0 0 6
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 2 2 0 0 0 0 0 0 0 6
Molecular Genetics Lab, CHRU Brest 2 4 0 0 0 0 0 0 0 0 6
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 6 0 0 0 0 0 0 0 0 0 6
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 2 1 2 0 0 0 0 0 5
Division of Human Genetics, Children's Hospital of Philadelphia 3 1 1 0 0 0 0 0 0 0 5
Dept of Medicine and Surgery, University of Milano-Bicocca 5 0 0 0 0 0 0 0 0 0 5
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 1 4 0 0 0 0 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 3 1 1 0 0 0 0 0 0 0 5
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 2 3 0 0 0 0 0 0 0 0 5
Taipei Veterans General Hospital, Neurological Institute 5 0 0 0 0 0 0 0 0 0 5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 3 1 0 0 0 0 0 0 0 5
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague 3 1 1 0 0 0 0 0 0 0 5
Department of Neurology, Xijing Hospital, Fourth Military Medical University 1 0 4 0 0 0 0 0 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 2 0 0 0 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 3 0 0 0 0 0 4
Institute of Human Genetics, Cologne University 3 1 0 0 0 0 0 0 0 0 4
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 1 1 0 0 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 1 0 0 0 0 0 0 0 0 4
Aziz Sancar Institute of Experimental Medicine, Istanbul University 4 0 0 0 0 0 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 2 0 0 0 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 2 0 0 0 0 0 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 2 1 0 0 0 0 0 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 1 0 0 0 0 0 0 0 0 4
Department of Medical Biology, Faculty of Medicine, Hacettepe University 2 2 0 0 0 0 0 0 0 0 4
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 2 1 0 0 0 0 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 1 1 0 0 0 0 0 4
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 3 0 1 0 0 0 0 0 0 0 4
Department of Genetics and Molecular Medicine, Faculty of Medicine, Zanjan University of Medical Sciences 4 0 0 0 0 0 0 0 0 0 4
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 0 0 0 0 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 2 1 0 0 0 0 0 0 0 0 3
Institut IMAGINE, Institut National de la Sante et de la Recherche Medicale 3 0 0 0 0 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 1 0 0 0 0 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 1 1 0 0 0 0 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 0 2 0 1 0 0 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 1 0 0 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 0 1 0 0 0 0 0 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 2 0 0 0 0 0 0 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 2 0 0 0 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 2 0 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 1 1 0 0 0 0 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 2 1 0 0 0 0 0 0 0 0 3
Dr.Nikuei Genetic Center 2 0 0 0 1 0 0 0 0 0 3
Neurogenetics, Cyprus Institute of Neurology and Genetics 0 2 0 0 0 0 0 0 0 0 2
Sema4, Sema4 1 1 0 0 0 0 0 0 0 0 2
Blueprint Genetics 1 1 0 0 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 0 0 0 0 2
Dr. Faghihi's Medical Genetic Center 2 0 0 0 0 0 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 1 0 0 0 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 0 0 2
Human Genetics Research Lab, Central University of Jammu 2 0 0 0 0 0 0 0 0 0 2
GenePathDx, GenePath diagnostics 0 1 0 1 0 0 0 0 0 0 2
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 1 0 0 0 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 1 1 0 0 0 0 0 0 0 0 2
TIDEX, University of British Columbia 1 0 1 0 0 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 1 1 0 0 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 1 0 0 0 0 0 0 0 2
Hemoglobin and Genome Lab, University of Campinas 0 2 0 0 0 0 0 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 1 1 0 0 0 0 0 0 0 0 2
NxGen MDx 0 2 0 0 0 0 0 0 0 0 2
GenomeConnect - GM1 0 0 0 0 0 0 0 0 0 2 2
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 2 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 0 1 0 0 0 0 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 0 0 0 0 0 2
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education 1 1 0 0 0 0 0 0 0 0 2
Bioinformatics Unit, Institut Pasteur de Montevideo 0 2 0 0 0 0 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 1 0 0 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 0 1 0 0 0 0 0 0 0 2
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 2 0 0 0 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 0 0 0 2
Molecular Genetics of Human Eye Development, Oxford Brookes University 2 0 0 0 0 0 0 0 0 0 2
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 1 1 0 0 0 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 0 0 0 0 2
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 1 0 1 0 0 0 0 0 0 0 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 0 0 0 0 2 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 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 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 0 0 1 1
Alzheimer's disease and other cognitive disorders unit, Hospital Clínic de Barcelona_IDIBAPS 1 0 0 0 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 0 0 0 0 1
Rademakers Lab, Mayo Clinic 0 1 0 0 0 0 0 0 0 0 1
Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong 1 0 0 0 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 0 0 0 1
Faculty of Medicine, Iran University of Medical Sciences (IUMS) 1 0 0 0 0 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 0 0 0 0 1
Human Molecular Genetics Lab, Quaid-I-Azam University 1 0 0 0 0 0 0 0 0 0 1
FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Pathology Laboratory, University Of Arkansas for Medical Sciences 0 1 0 0 0 0 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 1 0 0 0 0 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 0 0 1 0 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 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 0 0 1
Kangwon National University Hospital 1 0 0 0 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 0 0 0 1
Department of Medical Biochemistry and Genetics, University of Turku 0 1 0 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 1
Research Group Niklas Dahl, Uppsala University 1 0 0 0 0 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 0 0 0 0 1
Division of Genomics, Kyushu university 1 0 0 0 0 0 0 0 0 0 1
Genetics of Cognitive Dysfunction Laboratory, I3S-IBMC, University of Porto 1 0 0 0 0 0 0 0 0 0 1
Center for Medical Genetics, Keio University School of Medicine 1 0 0 0 0 0 0 0 0 0 1
Medical Institute of Bioregulation, Kyushu university 1 0 0 0 0 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 0 0 0 0 1
Functional Genomic Platform, Centre National pour la Recherche Scientifique et Technique 1 0 0 0 0 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 0 0 0 1
Laboratorio de Biología Molecular, FLENI 0 1 0 0 0 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 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 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 0 0 0 0 1
Department of Clinical and Movement Neurosciences, Institute of Neurology, University College London 0 1 0 0 0 0 0 0 0 0 1
Child Neurology Division, Pediatrics Department, KAHER's Jawaharlal Nehru Medical College, Belagavi 1 0 0 0 0 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 0 1 0 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Faculty of Medicine Siriraj Hospital, Mahidol University 1 0 0 0 0 0 0 0 0 0 1
Department Of Medical Genetics, Medical University Pleven 0 1 0 0 0 0 0 0 0 0 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 1 0 0 0 0 0 0 0 0 0 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 1 0 0 0 0 0 0 0 0 0 1
Human Genetics Department, Tarbiat Modares University 0 1 0 0 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 0 0 1
Neurology Laboratory, National Cheng Kung University Hospital 1 0 0 0 0 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 1 0 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 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 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 0 0 0 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 0 1 0 0 0 0 0 0 0 0 1
Gene Mapping Laboratory, Hacettepe University 1 0 0 0 0 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 0 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 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 0 0 1
Nutriplexity 0 1 0 0 0 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetic Laboratory, Kuwait Medical Genetic Center 0 0 1 0 0 0 0 0 0 0 1
Blood Transfusion Service Zurich, Swiss Red Cross 1 0 0 0 0 0 0 0 0 0 1
DBGen Ocular Genomics 0 0 1 0 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 0 0 0 0 1
Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu 1 0 0 0 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 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 1 0 0 0 0 0 0 0 0 0 1
Neurology Department, Shenzhen Children's Hospital 1 0 0 0 0 0 0 0 0 0 1
General Neurology and Ataxia Unit, Universidade Federal de Sao Paulo - Escola Paulista de Medicina 0 1 0 0 0 0 0 0 0 0 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 1 0 0 0 0 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 0 0 0 0 1
Institute of Neurology, Charite University of Medicine 0 1 0 0 0 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 0 0 0 0 1
Oleksyk Lab, Oakland University 1 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 0 1 0 0 0 0 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 1 0 0 0 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 0 0 0 0 1
Department of Endocrinology and Metabolism, Dushu Lake Hospital Affiliated to Soochow University 0 0 1 0 0 0 0 0 0 0 1
Department of Research, Sir Ganga Ram Hospital 0 1 0 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 0 0 1
Shengli Clinical Medical College Of Fujian Medical University, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 0 0 0 0 1
Department of Neurology-Cell Therapy Center, Hanyang University 1 0 0 0 0 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 0 0 0 0 1
Department of Rehabilitation Medicine, Chungnam National University Hospital 1 0 0 0 0 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 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 0 0 1
Kamboh's Lab, University of Pittsburgh 1 0 0 0 0 0 0 0 0 0 1
Firoozgar Clinical Hospital, Iran University of Medical Sciences 0 1 0 0 0 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 0 0 0 0 1

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