ClinVar Miner

Variants studied for cerebellar disorder

Included ClinVar conditions (276):
Minimum submission review status: Collection method:
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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 affects risk factor other not provided total
1879 1634 10242 5599 1902 2 1 12 164 20410

Gene and significance breakdown #

Total genes and gene combinations: 384
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
SYNE1 132 53 2314 1503 227 0 0 0 4 4043
SETX 45 28 491 457 342 0 0 0 4 1219
KIAA0586 83 35 586 407 56 0 0 0 2 1166
SACS 126 394 587 165 41 1 0 0 7 1150
SUFU 48 17 521 439 22 0 0 0 0 1034
CYP27A1 145 102 360 454 24 0 0 0 3 985
CSPP1 74 18 422 275 33 0 0 0 1 819
WWOX 51 11 301 251 46 0 0 0 1 656
CEP290 84 41 252 61 21 0 0 0 2 451
CEP41 13 5 228 113 24 0 0 0 0 372
TMEM237 25 12 203 113 23 0 0 0 0 357
TMEM231 31 9 159 126 16 0 0 0 0 334
AHI1 62 35 174 40 20 0 0 0 0 314
RPGRIP1L 18 35 191 41 17 0 0 0 1 300
KCND3 12 12 107 127 24 0 0 0 0 276
SIL1 22 7 139 98 18 0 0 0 0 265
ITPR1 12 13 123 47 79 0 0 0 3 262
MTTP 20 59 114 28 38 0 0 0 5 246
CC2D2A 50 18 126 11 22 0 0 0 0 220
ARFGEF1, CSPP1 8 5 103 66 10 0 0 0 0 190
SPTBN2 11 19 115 38 21 0 0 0 2 188
BRCA2 65 4 69 26 17 0 0 0 1 182
COQ8A 31 28 81 16 27 0 0 0 19 170
DYNC1H1 0 0 77 40 51 0 0 0 0 168
ELP1 6 13 113 35 1 0 0 0 0 167
FLVCR1 6 5 95 9 47 0 0 0 1 159
NPHP1 12 39 86 16 4 0 0 0 0 156
CACNA1A 27 32 47 14 20 0 0 0 17 147
MAF, WWOX 6 0 80 52 9 0 0 0 0 146
ATCAY 2 0 97 17 29 0 0 0 0 145
TTPA 16 38 70 6 10 0 0 0 15 133
VLDLR 11 11 84 11 15 0 0 0 5 133
TMEM138 13 3 71 42 6 0 0 0 0 127
LOC130004614, SUFU 12 0 71 34 3 0 0 0 0 117
PRKCG 26 19 39 10 18 0 0 0 15 114
TGM6 8 3 43 21 37 0 0 0 0 106
TMEM67 23 14 45 23 2 0 0 0 0 106
CAMTA1 19 15 51 8 10 0 0 0 1 103
TTBK2 3 4 47 19 26 0 0 0 3 99
TWNK 9 10 69 10 7 0 0 0 4 98
ANO10 15 9 59 5 11 0 0 0 0 95
MKS1 7 40 44 3 5 0 0 0 1 94
TMEM216 6 25 48 12 13 0 0 0 1 94
LOC126859837, SYNE1 4 2 44 34 3 0 0 0 0 86
ATP1A3 8 10 9 11 50 0 0 0 0 84
PDYN 4 1 52 9 20 0 0 0 0 83
CACNA1G 3 10 55 4 9 0 0 0 1 82
TDP1 1 1 51 6 23 0 0 0 0 82
AFG3L2 13 6 29 11 16 0 0 0 12 79
FGF14 12 2 34 13 17 0 0 0 0 77
VPS13D 13 11 37 2 1 0 0 0 1 64
FLVCR2 0 0 42 5 16 0 0 0 0 63
ESR1, SYNE1 0 0 38 15 9 0 0 0 0 60
ATP8A2 12 17 19 1 7 0 0 0 0 54
SAMD9L 5 4 40 5 0 0 0 0 4 51
WDR81 5 4 25 8 8 0 0 0 2 51
TPP1 12 4 20 7 7 0 0 0 2 50
APOB 21 0 25 1 0 0 0 0 0 47
WDR73 10 11 19 6 3 0 0 0 0 47
DNMT1 4 3 24 6 6 0 0 0 1 43
LOC129997480, SYNE1 1 0 21 18 2 0 0 0 0 39
CCDC88C 1 1 18 9 8 0 0 0 1 38
PNKP 8 4 21 4 2 0 0 0 0 37
SNX14 14 9 12 1 0 0 0 0 2 37
GRM1 9 0 11 7 5 0 0 0 0 32
PCSK9 0 0 29 3 0 0 0 0 0 32
ATP2B3 1 2 15 2 11 0 0 0 0 31
LOC126859838, SYNE1 2 0 14 16 0 0 0 0 0 31
KCNC3 4 2 14 8 4 0 0 0 0 30
FAT2, SLC36A1 2 0 15 2 11 0 0 0 0 28
JMJD8, STUB1 11 10 6 1 1 0 0 0 0 28
ABCB7 3 1 11 2 6 0 0 0 2 24
GRID2 10 3 9 0 2 0 0 0 0 24
CTNNB1, LOC126806658 2 21 0 1 0 0 0 3 0 23
CWF19L1 9 10 3 0 1 0 0 0 0 22
PUM1 4 5 11 0 3 0 0 0 1 22
RNF168 3 3 6 1 9 0 0 0 0 22
PIK3R5 1 0 9 0 11 0 0 0 1 21
RFC1 10 1 2 0 5 0 0 0 4 21
LOC130009366, SACS 0 5 12 7 1 0 0 0 0 20
STUB1 11 6 6 0 0 0 0 0 0 20
TP53 0 20 0 0 0 0 0 0 0 20
CPLANE1 8 11 0 0 0 0 0 0 0 19
LOC130059440, TMEM231 3 1 8 6 1 0 0 0 0 19
SCYL1 13 3 3 1 0 0 0 0 0 19
RUBCN 2 2 12 0 1 0 0 0 0 17
CEP290, RLIG1 3 6 7 0 0 0 0 0 0 16
FAT2 0 1 2 1 12 0 0 0 0 16
LOC126859836, SYNE1 0 0 7 6 4 0 0 0 0 16
LOC129935417, TMEM237 0 0 10 3 3 0 0 0 0 16
APTX 0 0 10 2 3 0 0 0 0 15
CTDP1 1 0 6 2 6 0 0 0 1 15
AFG3L2, TUBB6 0 0 9 0 5 0 0 0 0 14
ITPR1, LOC126806590 3 4 4 0 4 0 0 0 0 14
LOC126860782, SETX 0 0 4 7 5 0 0 0 0 14
PMPCA 4 1 7 0 2 0 0 0 0 14
MME 5 1 4 2 0 0 0 0 1 13
SLC9A1 2 1 6 1 3 0 0 0 0 13
TMEM240 6 3 6 0 1 0 0 0 0 13
EEF2 1 1 7 0 2 0 0 0 1 12
LOC126862019, TDP1 0 0 9 1 3 0 0 0 0 12
PTCH2 1 0 6 4 1 0 0 0 0 12
XRCC1 2 1 5 0 4 0 0 0 0 12
ATG7 6 1 4 0 1 0 0 0 0 11
ELOVL5 2 0 7 1 0 0 0 0 3 11
PIK3CA 0 11 0 0 0 0 0 0 0 11
​intergenic 8 1 1 0 1 0 0 0 0 10
ATXN2 0 0 3 3 2 0 1 0 1 10
GPR161 1 0 8 0 1 0 0 0 0 10
VWA3B 2 1 4 0 4 0 0 0 0 10
ANO10, LOC129936579 0 0 8 0 1 0 0 0 0 9
ARL13B 0 9 0 0 0 0 0 0 0 9
CA8 2 3 0 0 4 0 0 0 0 9
CEP104 2 7 0 0 0 0 0 0 0 9
FXN 6 2 0 1 0 0 0 0 0 9
INPP5E 3 6 0 0 0 0 0 0 0 9
PRDX3 8 2 1 0 0 0 0 0 0 9
SACS, SGCG 0 0 0 8 1 0 0 0 0 9
ELOVL4 2 1 3 1 1 0 0 0 0 8
TCTN2 3 5 0 0 0 0 0 0 0 8
ATN1, LOC109461484 2 0 0 3 2 0 0 0 0 7
DYNC1H1, LOC126862060 0 0 4 2 1 0 0 0 0 7
LOC126860792, PMPCA 2 0 4 1 0 0 0 0 0 7
VPS41 6 1 0 0 0 0 0 0 0 7
ATXN1, LOC108663993 1 0 1 2 2 0 0 0 0 6
ATXN10, LOC107181287, LOC108660404 4 0 0 0 1 0 0 0 1 6
CACNA1A, LOC108663985 1 0 0 2 3 0 0 0 0 6
CAMTA1, LOC126805603 1 0 3 1 0 0 0 0 1 6
DAB1 1 0 4 0 1 0 0 0 0 6
DYNC1H1, LOC125078040 0 0 3 1 2 0 0 0 0 6
FAT1 0 0 6 0 0 0 0 0 0 6
LOC126807124, MTTP 0 1 4 1 2 0 0 0 0 6
NPHP3, NPHP3-ACAD11 1 5 0 0 0 0 0 0 0 6
NPHP3-ACAD11, UBA5 3 2 0 0 1 0 0 0 0 6
PNPT1 3 1 2 0 0 0 0 0 0 6
TDP2 5 1 0 0 0 0 0 0 0 6
TRPC3 2 0 3 0 1 0 0 0 0 6
ATXN10 0 0 4 1 0 0 0 0 0 5
ATXN7 1 0 3 0 1 0 0 0 0 5
B9D2 1 4 0 0 0 0 0 0 0 5
DNMT1, LOC126862853 0 1 2 2 0 0 0 0 0 5
FBXW7 0 5 0 0 0 0 0 0 0 5
FGFR1 0 5 0 0 0 0 0 0 0 5
FLVCR1, LOC129932486 0 0 4 0 1 0 0 0 0 5
FXN, LOC130001862 2 1 1 0 1 0 0 0 0 5
GDAP2 3 1 1 0 0 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 0 0 5
KIF14 0 5 0 0 0 0 0 0 0 5
LOC108663996, TBP 2 0 1 1 1 0 0 0 0 5
LOC129994751, SIL1 0 0 4 1 0 0 0 0 0 5
LOC130061271, MKS1 0 3 1 1 0 0 0 0 0 5
NPTX1 4 0 1 0 0 0 0 0 0 5
PITRM1 3 0 2 0 0 0 0 0 0 5
TCTN1 0 5 0 0 0 0 0 0 0 5
ZNF592 0 0 3 0 2 0 0 0 0 5
ATP1A3, LOC130064543 0 0 3 0 1 0 0 0 0 4
ATXN1 0 0 2 1 1 0 0 0 0 4
ATXN3, LOC108663987 2 0 0 0 2 0 0 0 0 4
COA7 2 1 1 0 0 0 0 0 0 4
CREBBP 0 4 0 0 0 0 0 0 0 4
CTNNB1, LOC126806659 2 0 1 1 0 0 0 0 0 4
FMR1 1 1 0 0 2 0 0 0 0 4
ITPR1, LOC129936059 0 0 3 0 1 0 0 0 0 4
KIF26B 1 0 3 0 0 0 0 0 0 4
LOC126860783, SETX 0 0 3 0 1 0 0 0 0 4
PLD3, PRX 3 0 0 0 1 0 0 0 0 4
SYT14 1 0 1 1 2 0 0 0 0 4
ATN1 1 1 1 0 0 0 0 0 0 3
ATXN2, LOC130008792 0 0 1 0 2 0 0 0 0 3
ATXN7, LOC108660406, LOC129936979 1 0 1 0 1 0 0 0 0 3
CEP290, LOC129390514 1 0 1 1 0 0 0 0 0 3
CHUK-DT, CWF19L1 0 0 2 0 1 0 0 0 0 3
COA7, LOC129388524 3 0 0 0 0 0 0 0 0 3
DDX3X 0 0 0 0 0 0 0 3 0 3
EP300 0 2 1 0 0 0 0 0 0 3
KCNC3, LOC111811967 1 0 2 0 0 0 0 0 0 3
LOC109504727, LOC130065308, NOP56 2 0 0 0 1 0 0 0 0 3
LOC126806306, NPHP1 1 2 0 0 0 0 0 0 0 3
LOC130001468, VLDLR 0 0 0 1 2 0 0 0 0 3
LOC130059035, RPGRIP1L 0 0 3 0 0 0 0 0 0 3
NOP56 0 1 2 0 0 0 0 0 0 3
NRAS 0 3 0 0 0 0 0 0 0 3
PLD3 1 0 3 0 0 0 0 0 0 3
PMM2 2 2 0 0 0 0 0 0 0 3
ABCB7, LOC130068449 0 0 1 0 1 0 0 0 0 2
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231 1 0 1 0 0 0 0 0 0 2
APOB, APOB3'MAR 0 0 2 0 0 0 0 0 0 2
ARL3, CYP17A1, SFXN2, SUFU, TRIM8, WBP1L 1 0 1 0 0 0 0 0 0 2
ARMC9 0 2 0 0 0 0 0 0 0 2
ATM 2 0 0 0 0 0 0 0 0 2
ATXN2, LOC130008791 0 0 0 2 1 0 0 0 0 2
B9D1 0 2 0 0 0 0 0 0 0 2
CACNA1A, LOC126862865 0 1 0 1 0 0 0 0 0 2
COQ8A, LOC129932681 0 0 2 0 0 0 0 0 0 2
CTNNB1 0 0 0 2 0 0 0 0 0 2
EEF2, LOC130063169 0 0 1 0 1 0 0 0 0 2
FGF14, ITGBL1 1 0 1 0 0 0 0 0 0 2
FXN, LOC108510657 2 0 0 0 0 0 0 0 0 2
HARS1 2 0 0 0 0 0 0 0 0 2
HYLS1, PUS3 0 2 0 0 0 0 0 0 0 2
IFT140 2 0 0 0 0 0 0 0 0 2
INTS1 0 0 2 0 0 0 0 0 0 2
JMJD8, RHBDL1, STUB1, WDR24 0 0 2 0 0 0 0 0 0 2
KCNN2, LOC101927078 1 1 0 0 0 0 0 0 0 2
LOC112486209, LOC132090435, WWOX 1 1 0 0 0 0 0 0 0 2
LOC129937586, NPHP3, NPHP3-ACAD11 0 2 0 0 0 0 0 0 0 2
LOC129995144, THG1L 1 1 1 0 0 0 0 0 0 2
LOC130003010, PMPCA 1 0 1 0 0 0 0 0 0 2
LOC130004408, TCTN3 0 2 0 0 0 0 0 0 0 2
MT-ATP6 0 2 0 0 0 0 0 0 0 2
MTCL1 1 0 1 0 0 0 0 0 0 2
NCDN 0 2 0 0 0 0 0 0 0 2
NPC1 2 0 0 0 0 0 0 0 0 2
PDE1B 0 0 2 0 0 0 0 0 0 2
PEX6 2 0 0 0 0 0 0 0 0 2
PIBF1 0 2 0 0 0 0 0 0 0 2
PNPLA6 0 2 0 0 0 0 0 0 0 2
PPP2R2B 0 0 2 0 0 0 0 0 0 2
STXBP1 1 1 0 0 0 0 0 0 0 2
SURF1 1 1 0 0 0 0 0 0 0 2
TCTN3 2 0 0 0 0 0 0 0 0 2
THG1L 0 0 0 0 2 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 1
ACTR1A, ARL3, AS3MT, ATP5MK, BORCS7, BORCS7-ASMT, C10orf95, CALHM1, CALHM2, CALHM3, CFAP43, CFAP58, CFAP58-DT, CNNM2, COL17A1, CYP17A1, GSTO1, GSTO2, INA, ITPRIP, LINC02620, LOC107984265, LOC110408762, LOC111501773, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC116216120, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121815965, LOC121815966, LOC121815967, LOC124416895, LOC124416896, LOC124416897, LOC124416898, LOC126861024, LOC126861025, LOC126861026, LOC126861027, LOC126861028, LOC128772341, LOC129390226, LOC130004609, LOC130004610, LOC130004611, LOC130004612, LOC130004613, LOC130004614, LOC130004615, LOC130004616, LOC130004617, LOC130004618, LOC130004619, LOC130004620, LOC130004621, LOC130004622, LOC130004623, LOC130004624, LOC130004625, LOC130004626, LOC130004627, LOC130004628, LOC130004629, LOC130004630, LOC130004631, LOC130004632, LOC130004633, LOC130004634, LOC130004635, LOC130004636, LOC130004637, LOC130004638, LOC130004639, LOC130004640, LOC130004641, LOC130004642, LOC130004643, LOC130004644, LOC130004645, LOC130004646, LOC130004647, LOC130004648, LOC130004649, LOC130004650, LOC130004651, LOC130004652, LOC130004653, LOC130004654, LOC130004655, LOC130004656, LOC130004657, LOC130004658, LOC130004659, LOC130004660, LOC130004661, LOC130004662, LOC130004663, LOC130004664, LOC130004665, LOC130004666, LOC130004667, LOC130004668, LOC130004669, LOC130004670, MFSD13A, MIR1307, MIR4482, MIR609, MIR936, NEURL1, NT5C2, PCGF6, PDCD11, RPEL1, SFR1, SFXN2, SH3PXD2A, SLK, SORCS3, STN1, SUFU, TAF5, TRIM8, TRIM8-DT, WBP1L 1 0 0 0 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 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 0 1
ALS2, MPP4, TMEM237 1 0 0 0 0 0 0 0 0 1
ANK3 1 0 0 0 0 0 0 0 0 1
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24 0 0 1 0 0 0 0 0 0 1
ARFGEF1, CPA6, CSPP1 1 0 0 0 0 0 0 0 0 1
ARID1A 0 0 0 0 0 0 0 1 0 1
ARID1B 0 0 0 0 0 0 0 1 0 1
ARID2 1 0 0 0 0 0 0 0 0 1
ARID4A, KIAA0586, PSMA3, TIMM9, TOMM20L 1 0 0 0 0 0 0 0 0 1
ATG5 1 0 0 0 0 0 0 0 0 1
ATG7, LOC126806603 1 0 0 0 0 0 0 0 0 1
ATM, C11orf65 1 0 0 0 0 0 0 0 0 1
ATP6V0A1 1 0 0 0 0 0 0 0 0 1
ATXN10, LOC130067689 0 0 1 0 0 0 0 0 0 1
ATXN2, LOC130008791, LOC130008792 1 0 0 0 0 0 0 0 1 1
ATXN3 0 0 0 0 0 0 0 0 1 1
ATXN8, ATXN8OS 1 0 0 0 0 0 0 0 0 1
ATXN8, ATXN8OS, LOC109461478 0 0 0 0 1 0 0 0 0 1
BAP1 0 0 1 0 0 0 0 0 0 1
BEAN1 1 0 0 0 0 0 0 0 0 1
BLTP1 0 1 0 0 0 0 0 0 0 1
BRAF 0 1 0 0 0 0 0 0 0 1
C2CD6, LOC129935416, LOC129935417, MPP4, TMEM237 1 0 0 0 0 0 0 0 0 1
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 0 0 0 0 1
C2CD6, TMEM237 1 0 0 0 0 0 0 0 0 1
CACNA1A, LOC126862864 1 1 0 0 0 0 0 0 0 1
CACNA1A, LOC126862866 0 0 0 1 0 0 0 0 0 1
CAPRIN1 0 0 1 0 0 0 0 0 0 1
CAV3, OXTR 0 0 1 0 0 0 0 0 0 1
CCDC88C, LOC130056326 0 0 0 0 1 0 0 0 0 1
CDC42BPA, COQ8A, LOC126806036, LOC129388764, LOC129932683 1 0 0 0 0 0 0 0 0 1
CDH1 0 0 0 1 0 0 0 0 0 1
CEP104, LOC126805586 0 1 0 0 0 0 0 0 0 1
CHN1 0 1 0 0 0 0 0 0 0 1
CHST5, CHST6, TMEM170A, TMEM231 1 0 0 0 0 0 0 0 0 1
CHST5, CHST6, TMEM231 1 0 0 0 0 0 0 0 0 1
CIZ1, DNM1 0 1 0 0 0 0 0 0 0 1
CLCN2 0 0 1 0 0 0 0 0 0 1
CLEC3A, VAT1L, WWOX 0 0 0 1 0 0 0 0 0 1
COPS5, CSPP1, PPP1R42 0 0 1 0 0 0 0 0 0 1
COQ4 1 0 0 0 0 0 0 0 0 1
COQ8A, LOC129932682 0 0 0 1 1 0 0 0 0 1
CSMD1, LOC105377785 1 0 0 0 0 0 0 0 0 1
CSNK1E, TPTEP2-CSNK1E 0 0 1 0 0 0 0 0 0 1
CTCF 1 0 0 0 0 0 0 0 0 1
CYP27A1, PRKAG3, WNT6 1 0 0 0 0 0 0 0 0 1
DAGLA, MYRF 0 1 0 0 0 0 0 0 0 1
DICER1 0 0 1 0 0 0 0 0 0 1
DPH1 0 1 0 0 0 0 0 0 0 1
DPYSL5 0 0 1 0 0 0 0 0 0 1
DYNC1H1, LOC130056502 0 0 1 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 1
EIF2A 0 0 1 0 0 0 0 0 0 1
ELF2 0 1 0 0 0 0 0 0 0 1
ENG 0 0 0 0 1 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 0 1
ESR1, LOC129389688, LOC129997477, LOC129997478, SYNE1 0 0 1 0 0 0 0 0 0 1
FAT1, LOC126807255 0 0 1 0 0 0 0 0 0 1
FAT2, LOC132089193, SLC36A1 0 0 0 0 1 0 0 0 0 1
FGF14, LOC124946331, MIR2681 0 1 0 0 0 0 0 0 0 1
FLNC 1 0 0 0 0 0 0 0 0 1
FLVCR1, LOC129932485 0 0 1 0 0 0 0 0 0 1
FMR1, FRAXA, LOC107032825, LOC129929053 1 0 0 0 0 0 0 0 0 1
FMR1, LOC107032825 0 0 0 1 0 0 0 0 0 1
FOXO3 0 0 0 0 0 0 0 1 0 1
FZR1 0 0 1 0 0 0 0 0 0 1
GACAT2, MTCL1 0 0 0 0 1 0 0 0 0 1
GBA2 0 0 1 0 0 0 0 0 0 1
GJA3 1 0 0 0 0 0 0 0 0 1
GJB1 0 0 1 0 0 0 0 0 0 1
GRM1, LOC126859821 0 0 0 0 0 0 0 0 1 1
IFT140, LOC105371046 1 0 0 0 0 0 0 0 0 1
IFT140, LOC126862260 1 0 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 1
KCNA6 0 1 0 0 0 0 0 0 0 1
KCNC3, LOC130064972 0 0 1 0 0 0 0 0 0 1
KCNJ10 1 0 0 0 0 0 0 0 0 1
KCNN2 1 0 0 0 0 0 0 0 0 1
KIF1A 0 0 1 0 0 0 0 0 0 1
KIF1C 1 0 0 0 0 0 0 0 0 1
KIF7 0 1 0 0 0 0 0 0 0 1
KMT2D 1 0 0 0 0 0 0 0 0 1
L1CAM 0 0 1 0 0 0 0 0 0 1
LAMA4 0 0 1 0 0 0 0 0 0 1
LOC100507346, PTCH1 1 0 0 0 0 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 0 0 1
LOC108660405, PPP2R2B 0 0 0 0 1 0 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 0 1
LOC110120570, LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 0 0 0 1
LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 0 0 0 1
LOC113174982, TDP2 0 0 1 0 0 0 0 0 0 1
LOC124416895, LOC130004614, LOC130004615, LOC130004616, SUFU 1 0 0 0 0 0 0 0 0 1
LOC125446261, MLC1 0 1 0 0 0 0 0 0 0 1
LOC126805680, PUM1 0 0 1 0 0 0 0 0 0 1
LOC126806082, SMYD3 0 0 1 0 0 0 0 0 0 1
LOC126806462, SATB2 1 0 0 0 0 0 0 0 0 1
LOC130001468, LOC130001469, LOC130001470, LOC130001471, LOC130001472, VLDLR 1 0 0 0 0 0 0 0 0 1
LOC130001471, VLDLR 0 0 0 0 1 0 0 0 0 1
LOC132090432, LOC132090433, LOC132090434, WWOX 1 0 0 0 0 0 0 0 0 1
LRCH2 1 0 0 0 0 0 0 0 0 1
LRRCC1 0 1 0 0 0 0 0 0 0 1
MAGED2 0 1 0 0 0 0 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 0 0 0 1
MFN2 0 1 0 0 0 0 0 0 0 1
MID1 1 0 0 0 0 0 0 0 0 1
MSH6 0 0 0 0 0 1 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 0 1
MT-CO3 0 0 1 0 0 0 0 0 0 1
MT-CYB 0 0 1 0 0 0 0 0 0 1
MT-TE 1 0 0 0 0 0 0 0 0 1
MYCN, MYCNOS 0 1 0 0 0 0 0 0 0 1
NID1 0 0 1 0 0 0 0 0 0 1
NONO 0 0 0 0 0 0 0 1 0 1
NPHP3 0 1 0 0 0 0 0 0 0 1
OBI1, POU4F1 0 0 1 0 0 0 0 0 0 1
OFD1 1 0 0 0 0 0 0 0 0 1
OPA1 1 0 0 0 0 0 0 0 0 1
PCDH12, RNF14 0 1 0 0 0 0 0 0 0 1
PDGFRB 0 1 0 0 0 0 0 0 0 1
PKD2 0 0 0 0 1 0 0 0 0 1
PLA2G6 1 0 0 0 0 0 0 0 0 1
PLEKHG4 0 0 1 0 0 0 0 0 0 1
POLG, POLGARF 0 0 0 0 1 0 0 0 0 1
POMT1 0 0 1 0 0 0 0 0 0 1
PPP1CB 0 1 0 0 0 0 0 0 0 1
PRDM16 0 0 1 0 0 0 0 0 0 1
PRKAR1A 0 0 0 0 0 0 0 1 0 1
PTCH1 1 0 0 0 0 0 0 0 0 1
PTRH2 0 1 0 0 0 0 0 0 0 1
RB1 0 0 1 0 0 0 0 0 0 1
RET 0 0 1 0 0 0 0 0 0 1
RNU12 1 0 0 0 0 0 0 0 0 1
RPE65 0 0 0 0 1 0 0 0 0 1
RPGRIP1 0 0 1 0 0 0 0 0 0 1
SCN8A 0 1 0 0 0 0 0 0 0 1
SEPSECS 0 1 0 0 0 0 0 0 0 1
SEPTIN11 0 0 1 0 0 0 0 0 0 1
SETD2 0 1 0 0 0 0 0 0 0 1
SF3B2 0 1 0 0 0 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 0 0 0 1
SMAD6 0 0 1 0 0 0 0 0 0 1
SMARCA4 0 0 0 0 0 0 0 1 0 1
SMO 1 0 0 0 0 0 0 0 0 1
SOS1 0 0 0 0 1 0 0 0 0 1
SPART 0 1 0 0 0 0 0 0 0 1
SUMF1 0 1 0 0 0 0 0 0 0 1
SYNGAP1 0 1 0 0 0 0 0 0 0 1
TBP 0 0 1 0 0 0 0 0 0 1
TLN1 0 0 1 0 0 0 0 0 0 1
TMEM47 0 1 0 0 0 0 0 0 0 1
TUBA1A 0 1 0 0 0 0 0 0 0 1
TUBB4A 0 0 1 0 0 0 0 0 0 1
UNC13A 0 1 0 0 0 0 0 0 0 1
VHL 1 0 0 0 0 0 0 0 0 1
VPS39 0 0 1 0 0 0 0 0 0 1
WFS1 1 0 0 0 0 0 0 0 0 1
WRN 0 1 0 0 0 0 0 0 0 1
ZFHX3 1 0 0 0 0 0 0 0 0 1
ZNF236 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 242
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
Invitae 590 138 5429 4487 822 0 0 0 0 11466
Illumina Laboratory Services, Illumina 7 7 2715 502 763 0 0 0 0 3973
Fulgent Genetics, Fulgent Genetics 207 112 860 381 39 0 0 0 0 1599
Genome-Nilou Lab 39 40 243 169 475 0 0 0 0 966
Baylor Genetics 151 272 244 0 0 0 0 0 0 666
Natera, Inc. 58 8 373 125 74 0 0 0 0 638
OMIM 468 1 6 0 4 0 1 0 0 480
Counsyl 16 270 127 11 2 0 0 0 0 426
Revvity Omics, Revvity 42 42 189 0 0 0 0 0 0 273
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 112 148 0 0 0 0 0 0 0 260
GeneReviews 85 0 0 0 8 0 0 0 105 198
UW Hindbrain Malformation Research Program, University of Washington 132 3 0 0 0 0 0 0 0 135
Myriad Genetics, Inc. 10 111 1 0 0 0 0 0 0 122
Centre for Mendelian Genomics, University Medical Centre Ljubljana 27 20 59 4 3 0 0 0 0 113
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 24 16 61 3 1 0 0 0 0 105
New York Genome Center 6 4 90 0 0 0 0 0 0 100
3billion 33 32 29 0 0 0 0 0 0 94
Mendelics 25 18 12 7 18 0 0 0 0 80
Database of Curated Mutations (DoCM) 1 78 0 0 0 0 0 0 0 79
Institute of Human Genetics, University of Leipzig Medical Center 20 14 38 4 2 0 0 0 0 78
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 4 15 56 0 0 0 0 77
Genomic Research Center, Shahid Beheshti University of Medical Sciences 17 6 48 3 2 0 0 0 0 76
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 43 22 7 0 1 0 0 0 0 73
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 4 21 44 0 0 0 0 71
Neuberg Centre For Genomic Medicine, NCGM 9 15 44 0 0 0 0 0 0 68
O&I group, Department of Genetics, University Medical Center of Groningen 15 9 34 0 0 0 0 0 0 58
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 3 50 0 0 0 0 0 0 56
Genetic Services Laboratory, University of Chicago 33 19 0 0 0 0 0 0 0 52
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 17 8 24 1 0 0 0 0 0 50
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 32 18 0 0 0 0 0 0 0 50
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 19 19 0 5 0 0 0 0 50
Molecular Genetics, Royal Melbourne Hospital 4 6 21 2 8 0 0 0 0 41
Centogene AG - the Rare Disease Company 6 7 23 1 0 0 0 0 0 37
MGZ Medical Genetics Center 7 12 15 0 0 0 0 0 0 34
GenomeConnect, ClinGen 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 33
Genomics England Pilot Project, Genomics England 8 20 1 0 0 0 0 0 0 29
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 23 3 0 0 0 0 0 27
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 15 1 10 0 0 0 0 26
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 7 16 0 0 0 0 24
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 9 12 2 0 0 0 0 0 0 23
Genetics and Molecular Pathology, SA Pathology 10 10 3 0 0 0 0 0 0 23
Paris Brain Institute, Inserm - ICM 22 0 0 0 0 0 0 0 0 22
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 10 4 7 0 0 0 0 0 0 21
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 3 14 0 0 0 0 0 0 21
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 9 7 0 0 0 0 0 0 19
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 5 12 1 0 0 0 0 0 0 18
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 3 11 0 0 0 0 0 0 18
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 18 18
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 6 2 8 0 0 0 0 0 0 16
Johns Hopkins Genomics, Johns Hopkins University 2 4 10 0 0 0 0 0 0 16
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 5 10 0 0 0 0 0 0 16
Institute of Human Genetics, University of Goettingen 2 3 8 1 0 0 0 0 0 14
University of Washington Center for Mendelian Genomics, University of Washington 0 13 1 0 0 0 0 0 0 14
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 3 6 5 0 0 0 0 0 0 14
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 6 3 4 0 0 0 0 14
Institute of Human Genetics, University Hospital of Duesseldorf 6 0 7 0 0 0 0 0 0 13
UCLA Clinical Genomics Center, UCLA 1 11 0 0 0 0 0 0 0 12
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 0 0 12 0 12
Undiagnosed Diseases Network, NIH 6 5 1 0 0 0 0 0 0 12
Schule lab, Hertie Institute for Clinical Brain Research 5 0 0 7 0 0 0 0 0 12
Medical Genetics Laboratory, Tarbiat Modares University 9 1 2 0 0 0 0 0 0 12
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 3 8 0 0 0 0 0 0 11
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 3 2 0 0 0 0 0 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 4 2 0 0 0 0 0 0 11
Pars Genome Lab 1 0 2 6 2 0 0 0 0 11
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 7 0 0 0 0 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 4 0 0 0 0 0 0 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 7 0 0 0 0 0 0 10
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 3 2 0 0 0 0 0 0 10
SIB Swiss Institute of Bioinformatics 0 4 4 0 2 0 0 0 0 10
Suma Genomics 3 2 5 0 0 0 0 0 0 10
Mayo Clinic Laboratories, Mayo Clinic 0 0 9 0 0 0 0 0 0 9
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 5 0 1 0 0 0 0 0 9
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 1 5 0 0 0 0 0 0 9
NIHR Bioresource Rare Diseases, University of Cambridge 6 3 0 0 0 0 0 0 0 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 5 3 0 0 0 0 8
Kids Neuroscience Centre, Sydney Children's Hospitals Network 3 4 1 0 0 0 0 0 0 8
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 4 1 3 0 0 0 0 0 0 8
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 5 2 1 0 0 0 0 0 0 8
Athena Diagnostics Inc 0 0 0 0 7 0 0 0 0 7
Service de Génétique Moléculaire, Hôpital Robert Debré 1 2 0 4 0 0 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 4 0 0 0 0 0 0 0 7
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 5 2 0 0 0 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 4 0 0 0 0 0 0 0 7
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 5 2 0 0 0 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 7 7
Institute of Human Genetics, Cologne University 5 1 0 0 0 0 0 0 0 6
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 2 0 0 0 0 0 0 0 6
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 0 4 0 1 0 0 0 0 6
Ocular Genomics Institute, Massachusetts Eye and Ear 0 3 3 0 0 0 0 0 0 6
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 5 0 1 0 0 0 0 0 0 6
Codex Genetics Limited 5 1 0 0 0 0 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 5 0 0 0 0 0 0 6
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 5 0 0 0 0 0 0 6
Hadassah Hebrew University Medical Center 0 5 0 0 0 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 0 1 0 0 0 0 0 0 5
Institute of Human Genetics, University of Wuerzburg 0 3 2 0 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 4 0 0 0 0 0 0 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 5 0 0 0 0 0 0 0 0 5
Breda Genetics srl 2 0 3 0 0 0 0 0 0 5
Department of Biochemistry, Faculty of Medicine, University of Khartoum 2 2 1 0 0 0 0 0 0 5
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 1 0 0 0 0 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 1 2 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 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 1 0 0 0 0 0 0 4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 2 1 0 0 0 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 2 0 0 0 0 0 0 4
Research Group Niklas Dahl, Uppsala University 2 2 0 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 0 4
Taipei Veterans General Hospital, Neurological Institute 4 0 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 0 4
Genomic Medicine Lab, University of California San Francisco 3 1 0 0 0 0 0 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 2 0 0 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 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 3 0 0 0 0 0 0 0 4
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 1 3 0 0 0 0 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 3 0 1 0 0 0 0 0 0 4
Lifecell International Pvt. Ltd 2 2 0 0 0 0 0 0 0 4
DASA 3 1 0 0 0 0 0 0 0 4
Laboratory of Neurooncology, Almazov National Medical Research Centre 3 0 1 0 0 0 0 0 0 4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 3 0 0 0 0 0 0 0 4
Neurogenetics Research; Murdoch Childrens Research Institute 3 0 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 0 3
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 3 0 0 0 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 2 0 0 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 1 0 1 1 0 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 0 3
TIDEX, University of British Columbia 2 0 1 0 0 0 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 1 1 1 0 0 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 2 0 1 0 0 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, Heidelberg University 1 2 0 0 0 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 1 0 0 0 1 0 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 0 0 0 3
Institute for Human Genetics, University Hospital Essen 2 1 0 0 0 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 0 1 1 1 0 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 2 1 0 0 0 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 1 2 0 0 0 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 3 0 0 0 0 3
King Laboratory, University of Washington 1 1 0 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 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 1 0 0 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Ulm 0 2 0 0 0 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 2 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 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 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 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 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 0 1 0 0 0 0 0 0 2
Applied Translational Genetics Group, University of Auckland 2 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 2
Reproductive Development, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 0 0 2
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 0 2 0 0 0 0 0 0 0 2
Human Genetics Laboratory, Faculty of Medicine of Tunis 0 2 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 1 1 0 0 0 0 0 0 2
Institute of Bioinformatics 1 1 0 0 0 0 0 0 0 2
University of Iowa Renal Genetics Clinic, University of Iowa 0 2 0 0 0 0 0 0 0 2
Genome Medicine, Institute for Basic Research in Developmental Disabilities 1 1 0 0 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 0 0 0 2
CMT Laboratory, Bogazici University 1 0 1 0 0 0 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 0 0 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 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 2
Movement Disorders Program, Boston Children's Hospital 0 1 1 0 0 0 0 0 0 2
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 1 0 0 0 0 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 1 1 0 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 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 0 1
PreventionGenetics, part of Exact Sciences 0 0 1 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 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 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 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 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 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 0 0 0 1
Institute of Experimental Medicine, Department of Genetics, Istanbul University 1 0 0 0 0 0 0 0 0 1
Department Of Medical Genetics, Faculty Of Medicine, Ege University 1 0 0 0 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 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 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 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 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 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 0 1
Division of Genomics, Kyushu university 1 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 1
Medical Institute of Bioregulation, Kyushu university 1 0 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 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 1 0 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 0 0 0 0 0 0 0 1
Cancer Genomics Laboratory, Texas Children's Hospital 0 0 0 0 0 1 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 0 0 0 1
Cancer medicine, Gaomi People's Hospital 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 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 0 0 0 1
Institute of Genomic Medicine, Catholic University 0 0 0 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 0 0 0 1
Neurogenetics, IRCCS Istituto delle Scienze Neurologiche di Bologna 1 0 0 0 0 0 0 0 0 1
Molecular Medicine, University of Pavia 1 0 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 0 1
Fundacion Diagnosis 0 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 0 1
Department of Neonatology, Xingtai People's Hospital 1 0 0 0 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 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 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 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 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 0 0 0 1
Neurology Department, Shenzhen Children's Hospital 1 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 1
Credence Genomics 1 0 0 0 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 1 0 0 0 0 0 0 0 0 1
Angen Gene Medicine Technology 0 1 0 0 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, CHRU Nancy 1 0 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 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 1 0 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 0 1
Department of Endocrinology and Metabolism, Dushu Lake Hospital Affiliated to Soochow University 0 0 1 0 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 0 0 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 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 0 1
Department of Rehabilitation Medicine, Chungnam National University Hospital 1 0 0 0 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 0 0 0 1

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