ClinVar Miner

Variants studied for atactic disorder

Included ClinVar conditions (300):
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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 affects risk factor not provided total
2229 1737 11714 7007 2316 1 1 282 24016

Gene and significance breakdown #

Total genes and gene combinations: 393
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
SYNE1 132 49 2311 1503 228 0 0 4 4037
CACNA1A 209 109 966 1113 132 0 0 38 2480
SETX 45 30 490 457 342 0 0 4 1221
KIAA0586 83 35 586 407 56 0 0 2 1166
SACS 127 394 584 165 41 1 0 7 1148
CYP27A1 145 102 360 454 24 0 0 3 985
CSPP1 74 18 422 275 33 0 0 1 819
WWOX 51 11 301 251 46 0 0 1 656
SPG7 119 42 282 219 37 0 0 10 637
KCNA1 17 10 286 173 58 0 0 5 515
CEP290 83 40 252 61 21 0 0 2 449
KIF1C 14 4 151 183 41 0 0 0 385
CEP41 13 5 228 113 24 0 0 0 372
TMEM237 25 12 203 113 23 0 0 0 357
TMEM231 30 9 158 126 16 0 0 0 333
KCNJ10 19 9 197 93 23 0 0 1 325
AHI1 62 36 174 40 20 0 0 0 315
RPGRIP1L 18 35 191 40 17 0 0 1 299
KCND3 12 12 107 127 24 0 0 0 276
SIL1 22 7 139 98 18 0 0 0 265
ITPR1 12 14 121 47 79 0 0 3 261
POLR3A 22 23 117 27 38 0 0 57 254
MTTP 20 59 114 28 38 0 0 5 246
CC2D2A 48 18 124 11 22 0 0 0 216
ARFGEF1, CSPP1 8 5 103 66 10 0 0 0 190
SPTBN2 11 19 115 38 21 0 0 2 188
COQ8A 30 27 80 16 27 0 0 19 168
DYNC1H1 0 0 77 40 51 0 0 0 168
FLVCR1 6 5 94 9 47 0 0 1 158
NPHP1 12 39 86 16 4 0 0 0 156
MAF, WWOX 6 0 80 52 9 0 0 0 146
ATCAY 2 0 97 17 29 0 0 0 145
CACNB4 1 1 85 5 52 0 0 1 144
TTPA 16 38 70 6 10 0 0 15 133
VLDLR 11 11 84 11 15 0 0 5 133
TMEM138 13 3 70 42 6 0 0 0 126
PRKCG 26 20 38 10 18 0 0 15 114
TMEM67 23 15 44 23 2 0 0 0 106
SLC1A3 3 0 49 10 46 0 0 0 105
TGM6 8 3 41 21 37 0 0 0 105
CAMTA1 19 15 50 7 10 0 0 1 101
TTBK2 3 4 47 19 27 0 0 3 99
TWNK 9 10 69 10 7 0 0 4 98
ANO10 15 9 59 5 11 0 0 0 95
MKS1 7 41 44 3 5 0 0 1 95
TMEM216 6 25 48 12 13 0 0 1 94
AFG3L2 21 10 34 11 16 0 0 12 93
LOC126859837, SYNE1 4 2 44 34 3 0 0 0 86
ATP1A3 8 9 10 11 50 0 0 0 84
PDYN 4 1 52 9 20 0 0 0 83
CACNA1G 3 12 53 4 9 0 0 1 82
TDP1 1 1 51 6 23 0 0 0 82
FGF14 12 2 34 13 17 0 0 0 77
FLVCR2 0 0 42 5 16 0 0 0 63
VPS13D 13 11 34 2 1 0 0 1 61
ESR1, SYNE1 0 0 38 15 9 0 0 0 60
CACNA1A, LOC130063717 0 0 33 22 0 0 0 0 55
LOC130059818, SPG7 8 1 33 13 1 0 0 0 54
ATP8A2 12 15 19 1 7 0 0 0 52
SCN2A 11 9 17 7 6 0 0 1 51
TPP1 12 4 20 7 7 0 0 2 50
WDR81 4 4 24 8 8 0 0 2 49
APOB 21 0 26 1 0 0 0 0 48
SAMD9L 5 4 35 5 0 0 0 4 47
WDR73 10 11 19 6 3 0 0 0 47
PNPLA6 12 10 6 0 13 0 0 7 45
CACNA1A, LOC126862864 6 3 18 16 1 0 0 2 43
DNMT1 4 4 24 6 6 0 0 1 43
CCDC88C 1 3 18 9 8 0 0 1 40
LOC129997480, SYNE1 1 0 21 18 2 0 0 0 39
KIF1C, LOC126862473 0 1 14 18 5 0 0 0 38
KIF1C, LOC126862472 2 1 8 20 6 0 0 0 37
PNKP 8 4 21 4 2 0 0 0 37
SNX14 14 9 12 0 0 0 0 2 36
CACNA1A, LOC126862865 4 2 6 21 3 0 0 0 35
CACNA1A, LOC126862866 4 3 8 19 0 0 0 0 34
PCSK9 0 0 29 3 0 0 0 0 32
GRM1 9 0 10 7 5 0 0 0 31
LOC126859838, SYNE1 2 0 14 16 0 0 0 0 31
ATP2B3 1 3 13 2 11 0 0 0 30
KCNC3 4 2 14 8 4 0 0 0 30
JMJD8, STUB1 11 10 6 1 1 0 0 0 28
FAT2, SLC36A1 2 0 14 1 11 0 0 0 26
KCNA1, LOC130007218 0 0 19 6 1 0 0 0 26
ABCB7 3 1 11 2 6 0 0 2 24
GRID2 10 3 9 0 2 0 0 0 24
NKX6-2 12 9 6 0 1 0 0 8 24
PUM1 4 6 11 0 3 0 0 1 23
CWF19L1 9 10 3 0 1 0 0 0 22
PIK3R5 1 0 10 0 11 0 0 1 22
RNF168 3 3 6 1 9 0 0 0 22
LOC130009366, SACS 0 5 12 7 1 0 0 0 20
RFC1 10 1 1 0 5 0 0 4 20
STUB1 11 6 7 0 0 0 0 0 20
CPLANE1 8 11 0 0 0 0 0 0 19
LOC130059440, TMEM231 3 1 8 6 1 0 0 0 19
SCYL1 13 3 3 1 0 0 0 0 19
COQ4 17 0 0 0 0 0 0 0 17
CEP290, RLIG1 3 6 7 0 0 0 0 0 16
FAT2 0 0 2 2 12 0 0 0 16
LOC126859836, SYNE1 0 0 7 6 4 0 0 0 16
LOC129935417, TMEM237 0 0 10 3 3 0 0 0 16
AFG3L2, TUBB6 0 0 11 0 5 0 0 0 15
APTX 0 0 10 2 3 0 0 0 15
CTDP1 1 0 6 2 6 0 0 1 15
ITPR1, LOC126806590 3 4 4 0 4 0 0 0 14
LOC126860782, SETX 0 0 4 7 5 0 0 0 14
PMPCA 4 1 7 0 2 0 0 0 14
RUBCN 2 1 11 0 0 0 0 0 14
MME 5 1 4 2 0 0 0 1 13
TMEM240 6 3 5 0 1 0 0 0 13
EEF2 1 1 7 0 2 0 0 1 12
LOC126862019, TDP1 0 0 9 1 3 0 0 0 12
SLC9A1 2 1 5 1 3 0 0 0 12
ELOVL5 2 0 7 1 0 0 0 3 11
LOC126860971, POLR3A 1 1 6 0 1 0 0 4 11
MTPAP 1 1 7 0 2 0 0 0 11
XRCC1 2 1 4 0 4 0 0 0 11
​intergenic 8 1 1 0 1 0 0 0 10
ATXN2 0 0 3 3 2 0 1 1 10
VWA3B 1 1 4 0 4 0 0 0 10
ANO10, LOC129936579 0 0 8 0 1 0 0 0 9
ARL13B 0 9 0 0 0 0 0 0 9
CA8 2 3 0 0 4 0 0 0 9
CEP104 2 7 0 0 0 0 0 0 9
DNAJC3 7 1 1 0 0 0 0 0 9
ELOVL4 2 2 3 1 1 0 0 0 9
FXN 6 2 0 1 0 0 0 0 9
INPP5E 3 6 0 0 0 0 0 0 9
PRDX3 8 2 1 0 0 0 0 0 9
RNF170 1 2 5 1 0 0 0 0 9
SACS, SGCG 0 0 0 8 1 0 0 0 9
CACNB4, LOC129934925 0 0 4 1 5 0 0 0 8
LOC126860970, POLR3A 2 0 4 0 1 0 0 1 8
POLR3B 1 2 1 1 3 0 0 0 8
ATG7 6 1 0 0 1 0 0 0 7
ATN1, LOC109461484 2 0 0 3 2 0 0 0 7
DYNC1H1, LOC126862060 0 0 4 2 1 0 0 0 7
TCTN2 2 5 0 0 0 0 0 0 7
VPS41 6 1 0 0 0 0 0 0 7
ATXN10, LOC107181287, LOC108660404 4 0 0 0 1 0 0 1 6
CACNA1A, LOC108663985 1 0 0 2 3 0 0 0 6
CAMTA1, LOC126805603 1 0 3 1 0 0 0 1 6
DAB1 1 1 4 0 0 0 0 0 6
DNMT1, LOC126862853 0 2 2 2 0 0 0 0 6
DYNC1H1, LOC125078040 0 0 3 1 2 0 0 0 6
FAT1 0 0 6 0 0 0 0 0 6
LOC126807124, MTTP 0 1 4 1 2 0 0 0 6
LOC126860792, PMPCA 2 0 3 1 0 0 0 0 6
MARS2 2 0 3 0 1 0 0 0 6
NPHP3, NPHP3-ACAD11 1 5 0 0 0 0 0 0 6
NPHP3-ACAD11, UBA5 3 2 0 0 1 0 0 0 6
TAPBPL, VAMP1 1 2 0 0 3 0 0 0 6
TDP2 5 1 0 0 0 0 0 0 6
TRPC3 2 0 3 0 1 0 0 0 6
ATXN1, LOC108663993 1 0 0 2 2 0 0 0 5
ATXN7 1 0 3 0 1 0 0 0 5
B9D2 1 4 0 0 0 0 0 0 5
FLVCR1, LOC129932486 0 0 4 0 1 0 0 0 5
HARS1 4 0 1 0 0 0 0 0 5
KIF14 0 5 0 0 0 0 0 0 5
LOC108663996, TBP 2 0 1 1 1 0 0 0 5
LOC129994751, SIL1 0 0 4 1 0 0 0 0 5
LOC130061271, MKS1 0 3 1 1 0 0 0 0 5
PITRM1 3 0 2 0 0 0 0 0 5
PNPT1 3 0 2 0 0 0 0 0 5
STXBP1 3 2 0 0 0 0 0 0 5
TCTN1 0 5 0 0 0 0 0 0 5
WFS1 0 3 2 0 0 0 0 0 5
ZNF592 0 0 3 0 2 0 0 0 5
ATP1A3, LOC130064543 0 0 3 0 1 0 0 0 4
ATXN1 0 0 2 1 1 0 0 0 4
ATXN10 0 0 3 1 0 0 0 0 4
ATXN3, LOC108663987 2 0 0 0 2 0 0 0 4
COA7 2 1 1 0 0 0 0 0 4
FMR1 1 1 0 0 2 0 0 0 4
FXN, LOC130001862 2 0 1 0 1 0 0 0 4
GLRX5 3 0 1 0 0 0 0 0 4
ITPR1, LOC129936059 0 0 3 0 1 0 0 0 4
KIF26B 1 0 3 0 0 0 0 0 4
LOC126860783, SETX 0 0 3 0 1 0 0 0 4
NPTX1 4 0 0 0 0 0 0 0 4
PLD3, PRX 3 0 0 0 1 0 0 0 4
SYT14 1 0 1 1 2 0 0 0 4
ATN1 1 1 1 0 0 0 0 0 3
ATXN2, LOC130008792 0 0 1 0 2 0 0 0 3
ATXN7, LOC108660406, LOC129936979 1 0 1 0 1 0 0 0 3
CEP290, LOC129390514 1 0 1 1 0 0 0 0 3
COA7, LOC129388524 3 0 0 0 0 0 0 0 3
GDAP2 3 0 0 0 0 0 0 0 3
HPDL 3 0 0 0 0 0 0 0 3
KCNC3, LOC111811967 1 0 2 0 0 0 0 0 3
LOC109504727, LOC130065308, NOP56 2 0 0 0 1 0 0 0 3
LOC126806306, NPHP1 1 2 0 0 0 0 0 0 3
LOC130001468, VLDLR 0 0 0 1 2 0 0 0 3
LOC130059035, RPGRIP1L 0 0 3 0 0 0 0 0 3
LYST 0 1 2 0 0 0 0 0 3
NOP56 0 1 2 0 0 0 0 0 3
PLD3 1 0 3 0 0 0 0 0 3
PMM2 2 2 0 0 0 0 0 0 3
ABCB7, LOC130068449 0 0 1 0 1 0 0 0 2
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231 1 0 1 0 0 0 0 0 2
APOB, APOB3'MAR 0 0 2 0 0 0 0 0 2
ATM 2 0 0 0 0 0 0 0 2
ATXN2, LOC130008791 0 0 0 2 1 0 0 0 2
B9D1 0 2 0 0 0 0 0 0 2
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 0 0 2 0 0 0 0 0 2
CHUK-DT, CWF19L1 0 0 2 0 0 0 0 0 2
COQ8A, LOC129932681 0 0 2 0 0 0 0 0 2
DARS2 1 1 0 0 0 0 0 0 2
EEF2, LOC130063169 0 0 1 0 1 0 0 0 2
ERCC4 2 0 0 0 0 0 0 0 2
FGF14, ITGBL1 1 0 1 0 0 0 0 0 2
FXN, LOC108510657 2 0 0 0 0 0 0 0 2
GALC 1 1 0 0 0 0 0 0 2
IFT140 2 0 0 0 0 0 0 0 2
JMJD8, RHBDL1, STUB1, WDR24 0 0 2 0 0 0 0 0 2
KCNN2, LOC101927078 1 1 0 0 0 0 0 0 2
LOC112486209, LOC132090435, WWOX 1 1 0 0 0 0 0 0 2
LOC129937586, NPHP3, NPHP3-ACAD11 0 2 0 0 0 0 0 0 2
LOC129995144, THG1L 1 1 1 0 0 0 0 0 2
LOC130003010, PMPCA 1 0 1 0 0 0 0 0 2
LOC130004143, POLR3A, RPS24 0 0 2 0 0 0 0 1 2
LOC130004408, TCTN3 0 2 0 0 0 0 0 0 2
MT-ATP6 0 2 0 0 0 0 0 0 2
MTCL1 1 0 1 0 0 0 0 0 2
NCDN 0 2 0 0 0 0 0 0 2
NPC1 2 0 0 0 0 0 0 0 2
PDE1B 0 0 2 0 0 0 0 0 2
PEX6 2 0 0 0 0 0 0 0 2
PLA2G6 2 0 0 0 0 0 0 0 2
PPP2R2B 0 0 2 0 0 0 0 0 2
SCN8A 0 1 1 0 0 0 0 0 2
SEPSECS 1 1 0 0 0 0 0 0 2
SURF1 1 1 0 0 0 0 0 0 2
TCTN3 2 0 0 0 0 0 0 0 2
THG1L 0 0 0 0 2 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 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
ADORA2A, C22orf15, CABIN1, CHCHD10, DDT, DDTL, DERL3, DRICH1, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GUCD1, IGLL1, LRRC75B, MIF, MMP11, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SUSD2, UPB1, VPREB3, ZNF70 0 0 1 0 0 0 0 0 1
AGPAT5, ANGPT2, ARHGEF10, BLK, C8orf74, CLDN23, CLN8, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, DLGAP2, ERI1, ERICH1, FAM167A, FBXO25, KBTBD11, MCPH1, MFHAS1, MIR124-1, MSRA, MTMR9, MYOM2, PINX1, PPP1R3B, PRSS51, PRSS55, RP1L1, SLC35G5, SOX7, SPAG11A, SPAG11B, TDRP, TNKS, USP17L1, USP17L3, USP17L4, USP17L8, XKR5, XKR6, ZNF596, ZNF705B, ZNF705G 1 0 0 0 0 0 0 0 1
AHDC1 0 0 0 0 1 0 0 0 1
AHNAK2 0 0 1 0 0 0 0 0 1
AKAP3, ANO2, C12orf4, DYRK4, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, NTF3, RAD51AP1, VWF 0 0 1 0 0 0 0 0 1
AKAP3, C12orf4, CCND2, DYRK4, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, RAD51AP1, TIGAR 0 0 1 0 0 0 0 0 1
ALS2, MPP4, TMEM237 1 0 0 0 0 0 0 0 1
AMACR, C1QTNF3-AMACR 0 0 1 0 0 0 0 0 1
AMPD2 1 0 0 0 0 0 0 0 1
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24 0 0 1 0 0 0 0 0 1
ARFGEF1, CPA6, CSPP1 1 0 0 0 0 0 0 0 1
ARID4A, KIAA0586, PSMA3, TIMM9, TOMM20L 1 0 0 0 0 0 0 0 1
ARSA 1 0 0 0 0 0 0 0 1
ATG5 1 0 0 0 0 0 0 0 1
ATG7, LOC126806603 1 0 0 0 0 0 0 0 1
ATM, C11orf65 1 0 0 0 0 0 0 0 1
ATP1A2 1 0 0 0 0 0 0 0 1
ATP1A2, IGSF8, KCNJ10, KCNJ9 0 0 1 0 0 0 0 0 1
ATP6V0A1 1 0 0 0 0 0 0 0 1
ATP7B 1 0 0 0 0 0 0 0 1
ATXN10, LOC130067689 0 0 1 0 0 0 0 0 1
ATXN2, LOC130008791, LOC130008792 1 0 0 0 0 0 0 1 1
ATXN3 0 0 0 0 0 0 0 1 1
ATXN8, ATXN8OS 1 0 0 0 0 0 0 0 1
ATXN8, ATXN8OS, LOC109461478 0 0 0 0 1 0 0 0 1
BEAN1 1 0 0 0 0 0 0 0 1
BEST2, CACNA1A, CALR, DAND5, DHPS, DNASE2, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KLF1, LYL1, MAN2B1, MAST1, NACC1, NFIX, PRDX2, RAD23A, RNASEH2A, RTBDN, STX10, SYCE2, TNPO2, TRIR, TRMT1, WDR83, WDR83OS 1 0 0 0 0 0 0 0 1
C17orf107, CAMTA2, CHRNE, ENO3, GP1BA, INCA1, KIF1C, PFN1, RNF167, SLC25A11, SPAG7 0 0 1 0 0 0 0 0 1
C19orf12 1 0 0 0 0 0 0 0 1
C2CD6, LOC129935416, LOC129935417, MPP4, TMEM237 1 0 0 0 0 0 0 0 1
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 0 0 0 1
C2CD6, TMEM237 1 0 0 0 0 0 0 0 1
CACNA1A, LOC108663985, LOC129391066, LOC130063715, LOC130063716, LOC130063717, LOC130063718 1 0 0 0 0 0 0 0 1
CACNA1A, LOC108663985, LOC129391066, LOC130063715, LOC130063716, LOC130063717, LOC130063718, LOC130063719 1 0 0 0 0 0 0 0 1
CACNA1A, LOC111365163, LOC112543459 1 0 0 0 0 0 0 0 1
CACNA1A, LOC112543459 1 0 0 0 0 0 0 0 1
CACNA1A, LOC121852980, LOC126862864, LOC126862865, LOC129391066, LOC130063718, LOC130063719, LOC130063720, LOC130063721 1 0 0 0 0 0 0 0 1
CAPRIN1 0 0 1 0 0 0 0 0 1
CAV3, OXTR 0 0 1 0 0 0 0 0 1
CCDC88C, LOC130056326 0 0 0 0 1 0 0 0 1
CDC42BPA, COQ8A, LOC126806036, LOC129388764, LOC129932683 1 0 0 0 0 0 0 0 1
CDH1 0 0 0 1 0 0 0 0 1
CEP104, LOC126805586 0 1 0 0 0 0 0 0 1
CHP1 1 0 0 0 0 0 0 0 1
CHST5, CHST6, TMEM170A, TMEM231 1 0 0 0 0 0 0 0 1
CHST5, CHST6, TMEM231 1 0 0 0 0 0 0 0 1
CIZ1, DNM1 0 1 0 0 0 0 0 0 1
CLCN2 0 0 1 0 0 0 0 0 1
CLEC3A, VAT1L, WWOX 0 0 0 1 0 0 0 0 1
CLN6 0 1 0 0 0 0 0 0 1
COPS5, CSPP1, PPP1R42 0 0 1 0 0 0 0 0 1
COQ8A, LOC129932682 0 0 0 1 1 0 0 0 1
CSMD1, LOC105377785 1 0 0 0 0 0 0 0 1
CSNK1E, TPTEP2-CSNK1E 0 0 1 0 0 0 0 0 1
CYP27A1, PRKAG3, WNT6 1 0 0 0 0 0 0 0 1
CYP7B1 1 0 0 0 0 0 0 0 1
DAGLA, MYRF 0 1 0 0 0 0 0 0 1
DNAJC6 1 0 0 0 0 0 0 0 1
DYNC1H1, LOC130056502 0 0 1 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 1
ELF2 0 1 0 0 0 0 0 0 1
ENG 0 0 0 0 1 0 0 0 1
EP300 0 0 1 0 0 0 0 0 1
ESR1, FBXO5, LINC02840, LOC105378066, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC129389688, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 0 0 1
ESR1, LOC129389688, LOC129997477, LOC129997478, SYNE1 0 0 1 0 0 0 0 0 1
EXOSC8 1 0 0 0 0 0 0 0 1
FA2H 0 1 0 0 0 0 0 0 1
FAT1, LOC126807255 0 0 1 0 0 0 0 0 1
FAT2, LOC132089193, SLC36A1 0 0 0 0 1 0 0 0 1
FGF14, LOC124946331, MIR2681 0 1 0 0 0 0 0 0 1
FLNC 1 0 0 0 0 0 0 0 1
FLVCR1, LOC129932485 0 0 1 0 0 0 0 0 1
FMR1, FRAXA, LOC107032825, LOC129929053 1 0 0 0 0 0 0 0 1
FMR1, LOC107032825 0 0 0 1 0 0 0 0 1
FZR1 0 0 1 0 0 0 0 0 1
GBA2 0 0 1 0 0 0 0 0 1
GJA3 1 0 0 0 0 0 0 0 1
GJB1 0 0 1 0 0 0 0 0 1
GJC2 0 1 0 0 0 0 0 0 1
GLB1 1 0 0 0 0 0 0 0 1
GRM1, LOC126859821 0 0 0 0 0 0 0 1 1
IFT140, LOC105371046 1 0 0 0 0 0 0 0 1
IFT140, LOC126862260 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 1
KCNA1, KCNA5 0 0 1 0 0 0 0 0 1
KCNA6 0 1 0 0 0 0 0 0 1
KCNC3, LOC130064972 0 0 1 0 0 0 0 0 1
KCNMA1 0 0 1 0 0 0 0 0 1
KCNN2 1 0 0 0 0 0 0 0 1
KIF1A 0 1 0 0 0 0 0 0 1
KIF7 0 1 0 0 0 0 0 0 1
L1CAM 0 0 1 0 0 0 0 0 1
LAMA4 0 0 1 0 0 0 0 0 1
LOC108660405, PPP2R2B 0 0 0 0 1 0 0 0 1
LOC110120570, LOC112486209, LOC121587562, LOC125177355, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 0 0 1
LOC110120570, LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 0 0 1
LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 0 0 1
LOC113174982, TDP2 0 0 1 0 0 0 0 0 1
LOC125446261, MLC1 0 1 0 0 0 0 0 0 1
LOC126805680, PUM1 0 0 1 0 0 0 0 0 1
LOC126806082, SMYD3 0 0 1 0 0 0 0 0 1
LOC126806462, SATB2 1 0 0 0 0 0 0 0 1
LOC129935364, MARS2 1 0 0 0 0 0 0 0 1
LOC129935366, MARS2 0 0 1 0 0 0 0 0 1
LOC130001468, LOC130001469, LOC130001470, LOC130001471, LOC130001472, VLDLR 1 0 0 0 0 0 0 0 1
LOC130001471, VLDLR 0 0 0 0 1 0 0 0 1
LOC130003597, MTPAP 0 0 0 0 1 0 0 0 1
LOC132090432, LOC132090433, LOC132090434, WWOX 1 0 0 0 0 0 0 0 1
LRCH2 1 0 0 0 0 0 0 0 1
LRRCC1 0 1 0 0 0 0 0 0 1
MAFA 0 0 1 0 0 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 0 0 1
MCOLN1, PNPLA6 0 0 0 1 0 0 0 0 1
MFN2 0 1 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 0 0 0 0 1
MT-CO3 0 0 1 0 0 0 0 0 1
MT-CYB 0 0 1 0 0 0 0 0 1
MT-TE 1 0 0 0 0 0 0 0 1
NAGLU 0 0 1 0 0 0 0 0 1
NID1 0 0 1 0 0 0 0 0 1
NPHP3 0 1 0 0 0 0 0 0 1
OBI1, POU4F1 0 0 1 0 0 0 0 0 1
OFD1 1 0 0 0 0 0 0 0 1
OPA1 1 0 0 0 0 0 0 0 1
PCDH12, RNF14 0 1 0 0 0 0 0 0 1
PEX10 1 0 0 0 0 0 0 0 1
PKD2 0 0 0 0 1 0 0 0 1
PLEKHG4 0 0 1 0 0 0 0 0 1
POMT1 0 0 1 0 0 0 0 0 1
PPT1 0 1 0 0 0 0 0 0 1
PRDM16 0 0 1 0 0 0 0 0 1
PTRH2 0 1 0 0 0 0 0 0 1
RNU12 1 0 0 0 0 0 0 0 1
RPE65 0 0 0 0 1 0 0 0 1
RPGRIP1 0 0 1 0 0 0 0 0 1
SEPTIN11 0 0 1 0 0 0 0 0 1
SLC25A46 0 1 0 0 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 0 0 1
SMAD6 0 0 1 0 0 0 0 0 1
SOS1 0 0 0 0 1 0 0 0 1
SPART 0 1 0 0 0 0 0 0 1
SPAST 0 0 1 0 0 0 0 0 1
SPG11 0 0 1 0 0 0 0 0 1
SPTAN1 0 1 0 0 0 0 0 0 1
SYNE2 0 1 0 0 0 0 0 0 1
SYNGAP1 0 1 0 0 0 0 0 0 1
TANGO2 1 0 0 0 0 0 0 0 1
TBP 0 0 1 0 0 0 0 0 1
TLN1 0 0 1 0 0 0 0 0 1
TUBB3 0 1 0 0 0 0 0 0 1
UNC13A 0 1 0 0 0 0 0 0 1
VPS39 0 0 1 0 0 0 0 0 1
ZFHX3 1 0 0 0 0 0 0 0 1
ZNF236 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 250
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Invitae 814 198 6608 5886 1021 0 0 0 14527
Illumina Laboratory Services, Illumina 8 7 3101 564 983 0 0 0 4617
Fulgent Genetics, Fulgent Genetics 155 103 734 343 24 0 0 0 1359
Genome-Nilou Lab 39 40 248 171 519 0 0 0 1017
Baylor Genetics 163 277 290 0 0 0 0 0 729
Natera, Inc. 58 8 373 125 74 0 0 0 638
OMIM 572 1 6 0 4 0 1 0 584
Counsyl 16 270 127 11 2 0 0 0 426
Revvity Omics, Revvity 48 47 213 0 0 0 0 0 308
GeneReviews 86 0 0 0 8 0 0 188 282
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 120 153 0 0 0 0 0 0 273
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 85 71 25 1 5 0 0 0 187
UW Hindbrain Malformation Research Program, University of Washington 132 3 0 0 0 0 0 0 135
Myriad Genetics, Inc. 10 111 1 0 0 0 0 0 122
Centre for Mendelian Genomics, University Medical Centre Ljubljana 26 21 64 4 3 0 0 0 118
3billion 44 38 34 0 0 0 0 0 116
Mendelics 37 26 14 9 22 0 0 0 108
New York Genome Center 7 4 96 0 0 0 0 0 107
Institute of Human Genetics, University of Leipzig Medical Center 23 20 49 4 2 0 0 0 98
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 15 34 33 0 5 0 0 0 87
Genomic Research Center, Shahid Beheshti University of Medical Sciences 19 6 52 3 2 0 0 0 82
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 0 4 14 61 0 0 0 82
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 10 17 55 0 0 0 0 0 82
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 1 4 22 49 0 0 0 79
Paris Brain Institute, Inserm - ICM 68 0 0 0 0 0 0 0 68
Genetic Services Laboratory, University of Chicago 42 25 0 0 0 0 0 0 67
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 22 10 33 2 0 0 0 0 67
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 45 21 0 0 0 0 0 0 66
O&I group, Department of Genetics, University Medical Center of Groningen 15 9 34 0 0 0 0 0 58
MGZ Medical Genetics Center 11 18 27 0 0 0 0 0 56
Centogene AG - the Rare Disease Company 11 9 23 1 0 0 0 0 44
Genomics England Pilot Project, Genomics England 15 26 1 0 0 0 0 0 42
GenomeConnect, ClinGen 0 0 0 0 0 0 0 40 40
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 3 33 4 0 0 0 0 39
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 16 1 16 0 0 0 35
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 15 7 10 1 1 0 0 0 34
Wendy Chung Laboratory, Columbia University Medical Center 13 20 0 0 0 0 0 0 33
Genetics and Molecular Pathology, SA Pathology 12 11 7 0 0 0 0 0 30
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 14 6 7 0 0 0 0 0 27
Molecular Genetics, Royal Melbourne Hospital 3 4 17 0 2 0 0 0 26
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 5 16 0 0 0 0 0 26
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 7 16 0 0 0 25
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 24 24
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 5 12 0 0 0 0 0 23
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 22 22
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 8 4 10 0 0 0 0 0 22
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 9 11 2 0 0 0 0 0 22
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 5 10 7 0 0 0 0 0 22
Institute of Human Genetics, University Hospital of Duesseldorf 11 0 7 0 0 0 0 0 18
Undiagnosed Diseases Network, NIH 8 6 4 0 0 0 0 0 18
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 7 10 0 0 0 0 0 18
Institute of Human Genetics, University of Goettingen 2 4 10 1 0 0 0 0 17
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 6 10 1 0 0 0 0 0 17
Johns Hopkins Genomics, Johns Hopkins University 2 5 10 0 0 0 0 0 17
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 4 6 5 0 0 0 0 0 15
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 7 3 4 0 0 0 15
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 10 4 1 0 0 0 0 0 15
Athena Diagnostics Inc 0 0 0 0 14 0 0 0 14
Mayo Clinic Laboratories, Mayo Clinic 2 0 12 0 0 0 0 0 14
UCLA Clinical Genomics Center, UCLA 0 14 0 0 0 0 0 0 14
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 6 0 0 0 0 0 0 13
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 3 10 0 0 0 0 0 13
Yale Center for Mendelian Genomics, Yale University 8 5 0 0 0 0 0 0 13
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 13 0 0 0 0 0 13
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 13 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 7 0 0 0 0 0 0 12
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 3 7 0 0 0 0 0 12
SIB Swiss Institute of Bioinformatics 0 6 4 0 2 0 0 0 12
Schule lab, Hertie Institute for Clinical Brain Research 5 0 0 7 0 0 0 0 12
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 5 2 0 0 0 0 0 12
Medical Genetics Laboratory, Tarbiat Modares University 9 1 2 0 0 0 0 0 12
Service de Génétique Moléculaire, Hôpital Robert Debré 2 5 0 4 0 0 0 0 11
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 5 1 1 0 0 0 0 11
NIHR Bioresource Rare Diseases, University of Cambridge 9 3 0 0 0 0 0 0 11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 4 1 0 0 0 0 0 11
Pars Genome Lab 1 0 2 6 2 0 0 0 11
Suma Genomics 3 2 5 1 0 0 0 0 11
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 1 3 0 0 0 0 0 10
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 6 4 0 0 0 0 0 0 10
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 5 4 0 0 0 0 0 0 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 1 6 0 0 0 0 0 9
MyeliNeuroGene Lab, McGill University Health Center Research Institute 8 0 0 0 0 0 0 0 8
Neurogenetics of motion laboratory, Montreal Neurological Institute 8 0 0 0 0 0 0 0 8
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 3 2 0 0 0 0 0 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 5 0 0 0 0 0 0 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 5 3 0 0 0 8
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 5 3 0 0 0 0 0 0 8
Kids Neuroscience Centre, Sydney Children's Hospitals Network 3 4 1 0 0 0 0 0 8
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 0 5 0 0 0 0 0 8
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 5 2 0 0 0 0 0 7
Institute of Human Genetics, University of Wuerzburg 0 4 3 0 0 0 0 0 7
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 6 0 1 0 0 0 0 0 7
DASA 5 2 0 0 0 0 0 0 7
Institute of Human Genetics, Cologne University 5 1 0 0 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 1 1 0 0 0 0 0 6
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 0 4 0 1 0 0 0 6
Ocular Genomics Institute, Massachusetts Eye and Ear 0 3 3 0 0 0 0 0 6
Codex Genetics Limited 5 1 0 0 0 0 0 0 6
Department of Biochemistry, Faculty of Medicine, University of Khartoum 3 2 1 0 0 0 0 0 6
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 2 1 2 0 0 0 0 6
Lifecell International Pvt. Ltd 3 3 0 0 0 0 0 0 6
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 3 0 0 0 0 0 6
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 5 0 0 0 0 0 0 6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 3 1 0 0 0 0 0 5
Hadassah Hebrew University Medical Center 0 5 0 0 0 0 0 0 5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 1 2 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 4 0 0 0 0 0 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 5 0 0 0 0 0 0 0 5
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 2 1 0 0 0 0 0 5
Breda Genetics srl 2 0 3 0 0 0 0 0 5
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 3 1 0 0 0 1 0 0 5
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 1 0 0 0 0 0 5
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 5 0 0 0 0 0 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 2 1 0 0 0 0 0 4
E. Rossignol Lab, CHU Ste-Justine, Universite de Montreal 3 1 0 0 0 0 0 0 4
Research Group Niklas Dahl, Uppsala University 2 2 0 0 0 0 0 0 4
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 4 0 0 0 0 0 0 0 4
Taipei Veterans General Hospital, Neurological Institute 4 0 0 0 0 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 2 0 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 2 1 0 0 0 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 3 0 0 0 0 0 0 4
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 1 3 0 0 0 0 0 0 4
Department of Human Genetics, Hannover Medical School 0 2 2 0 0 0 0 0 4
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 1 0 1 0 0 0 0 3
Neurogenetics Research; Murdoch Childrens Research Institute 3 0 0 0 0 0 0 0 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 3 0 0 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 2 0 0 0 0 0 3
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 3 0 0 0 0 0 0 0 3
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 1 0 0 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 1 0 1 1 0 0 0 0 3
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 3 0 0 0 0 0 0 3
TIDEX, University of British Columbia 2 0 1 0 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 2 0 1 0 0 0 0 0 3
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 1 2 0 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 1 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 3
Institute for Human Genetics, University Hospital Essen 2 1 0 0 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 0 1 1 1 0 0 0 0 3
Section for Clinical Neurogenetics, University of Tübingen 3 0 0 0 0 0 0 0 3
Center of Excellence for Medical Genomics, Chulalongkorn University 2 1 0 0 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 2 0 1 0 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 1 2 0 0 0 0 0 0 3
CMT Laboratory, Bogazici University 1 0 2 0 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 1 2 0 0 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 3 0 0 0 3
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 2 0 0 0 0 0 3
King Laboratory, University of Washington 1 1 0 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Ulm 0 2 0 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 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
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 1 1 0 0 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 0 1 0 0 0 0 0 2
Applied Translational Genetics Group, University of Auckland 2 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 2
Reproductive Development, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 0 0 0 2
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 2 0 0 0 0 0 0 2
Human Genetics Laboratory, Faculty of Medicine of Tunis 0 2 0 0 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 1 1 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 0 0 0 2
Institute of Bioinformatics 1 1 0 0 0 0 0 0 2
University of Iowa Renal Genetics Clinic, University of Iowa 0 2 0 0 0 0 0 0 2
Genome Medicine, Institute for Basic Research in Developmental Disabilities 1 1 0 0 0 0 0 0 2
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 2 0 0 0 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 1 0 1 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 0 2 0 0 0 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 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 2
Movement Disorders Program, Boston Children's Hospital 0 1 1 0 0 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 1 1 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 0 0 2
Tetreault Lab, University of Montreal Hospital Research Centre (CRCHUM) 2 0 0 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 0 1 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 0 0 1
State Key Lab of Medical Genetics, Central South University 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 0 1
Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) 0 1 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 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 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
Institute of Experimental Medicine, Department of Genetics, Istanbul University 1 0 0 0 0 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 0 0 0 1
Department Of Medical Genetics, Faculty Of Medicine, Ege University 1 0 0 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 0 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 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 1
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 1 0 0 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 0 0 0 1
Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul University 1 0 0 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 0 0 1
Division of Genomics, Kyushu university 1 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 1
Medical Institute of Bioregulation, Kyushu university 1 0 0 0 0 0 0 0 1
University of Uludag Hospital, Genetic Diseases Diagnostic Center, University of Uludag 0 1 0 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 1 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 1 0 0 0 0 0 0 1
Neurology Laboratory, National Cheng Kung University Hospital 1 0 0 0 0 0 0 0 1
Institute of Genomic Medicine, Catholic University 0 0 0 1 0 0 0 0 1
Neurogenetics, IRCCS Istituto delle Scienze Neurologiche di Bologna 1 0 0 0 0 0 0 0 1
Molecular Medicine, University of Pavia 1 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 0 0 1
Fundacion Diagnosis 0 1 0 0 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 0 1 0 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 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 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 0 0 1
Research Unit of Clinical Neuroscience, Medical Research Center Oulu, University of Oulu 0 1 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 0 0 1
Neurology Department, Shenzhen Children's Hospital 1 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 1
Credence Genomics 1 0 0 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 1 0 0 0 0 0 0 0 1
Angen Gene Medicine Technology 0 1 0 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 1 0 0 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 0 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
Department of Endocrinology and Metabolism, Dushu Lake Hospital Affiliated to Soochow University 0 0 1 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 0 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 0 0 0 0 0 0 1
Department of Rehabilitation Medicine, Chungnam National University Hospital 1 0 0 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 0 0 1

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