ClinVar Miner

Variants studied for cerebellar disease

Included ClinVar conditions (266):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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

pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
3201 1595 13263 4139 1861 1 1 12 25 22877

Gene and significance breakdown #

Total genes and gene combinations: 307
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
ATM 737 276 2686 856 97 0 0 0 0 4414
ATM, C11orf65 417 184 1666 460 67 0 0 0 2 2667
SYNE1 59 23 1176 344 165 0 0 0 2 1650
CEP290 214 41 381 271 43 0 0 0 0 904
SACS 71 218 393 67 30 1 0 0 2 716
MRE11 32 20 423 98 34 0 0 0 1 573
RPGRIP1L 88 25 294 151 29 0 0 0 0 543
SUFU 36 6 351 135 21 0 0 0 0 535
SETX 27 5 336 101 62 0 0 0 0 509
CC2D2A 74 20 287 96 28 0 0 0 0 459
AHI1 79 18 233 78 37 0 0 0 0 418
CPLANE1 74 23 180 38 51 0 0 0 0 330
ERCC4 11 5 213 62 43 0 0 0 0 320
WWOX 27 8 195 54 20 0 0 0 1 304
ZNF423 1 2 185 83 30 0 0 0 0 297
CYP27A1 78 42 100 106 21 0 0 0 1 291
MKS1 41 33 117 95 8 0 0 0 0 281
INPP5E 26 7 172 56 33 0 0 0 0 275
ITPR1 10 8 120 39 81 0 0 0 1 253
POLH, POLR1C 14 3 172 20 41 0 0 0 0 243
CEP41 7 1 161 35 20 0 0 0 0 219
CSPP1 35 5 126 41 10 0 0 0 0 217
XPC 36 43 109 7 18 0 0 0 0 204
TMEM237 12 5 133 42 13 0 0 0 0 196
TMEM67 54 18 92 21 17 0 0 0 0 185
DYNC1H1 0 0 84 43 54 0 0 0 0 181
MTTP 14 24 77 23 38 0 0 0 0 162
FLVCR1 5 4 96 8 48 0 0 0 0 159
PEX5 8 0 96 42 9 0 0 0 0 154
PEX7 24 8 63 51 9 0 0 0 0 144
SPTBN2 8 12 82 38 17 0 0 0 2 144
ATCAY 1 0 94 17 28 0 0 0 0 140
COQ8A 29 12 75 13 22 0 0 0 0 139
KIAA0586 32 9 52 23 26 0 0 0 0 139
BIVM-ERCC5, ERCC5 18 4 79 18 27 0 0 0 0 136
SLC9A6 18 5 58 28 14 0 0 0 0 121
OFD1 29 3 45 16 25 0 0 0 0 116
ERCC2 18 4 73 8 8 0 0 0 0 108
VLDLR 6 1 75 11 14 0 0 0 0 107
ARL13B 10 4 67 25 6 0 0 0 0 106
TCTN2 17 0 66 13 20 0 0 0 0 105
TMEM216 8 15 57 26 13 0 0 0 0 105
TTPA 19 19 64 3 10 0 0 0 0 105
KCND3 8 3 47 27 12 0 0 0 0 97
XPA 16 37 39 5 4 0 0 0 0 97
PRKCG 32 7 29 10 19 0 0 0 0 94
TWNK 7 8 66 10 7 0 0 0 0 93
TDP1 1 1 58 7 26 0 0 0 0 92
TGM6 6 1 30 19 37 0 0 0 0 92
ANO10 13 3 63 5 11 0 0 0 0 91
TTBK2 3 0 42 19 25 0 0 0 0 89
TCTN1 10 1 47 27 10 0 0 0 0 86
SIL1 14 2 48 14 13 0 0 0 0 84
PDYN 4 1 48 8 20 0 0 0 0 79
PEX26 9 0 54 14 6 0 0 0 0 78
ERCC3 10 2 45 5 13 0 0 0 0 74
TMEM231 7 2 34 21 12 0 0 0 0 74
MAF, WWOX 2 0 51 12 6 0 0 0 0 71
FGF14 4 0 34 13 17 0 0 0 0 67
APTX 16 2 31 4 14 0 0 0 0 66
AFG3L2 13 3 20 11 15 0 0 0 0 61
PEX6 12 25 21 2 0 0 0 0 0 59
BRCA2 22 0 35 0 1 0 0 0 0 58
PEX1 15 36 7 0 0 0 0 0 0 57
ARFGEF1, CSPP1 4 1 38 9 5 0 0 0 0 56
NPHP1 3 0 45 4 5 0 0 0 0 56
CEP104 7 1 24 5 16 0 0 0 0 53
PHYH 3 4 33 10 7 0 0 0 0 53
PEX12 6 28 17 0 1 0 0 0 0 51
APOB 21 0 26 1 0 0 0 0 0 48
FLVCR2 0 0 33 5 10 0 0 0 0 48
TMEM138 6 1 36 3 4 0 0 0 0 46
ESR1, SYNE1 0 0 33 5 9 0 0 0 0 45
DDB2 4 0 32 3 3 0 0 0 0 42
PEX10 9 18 17 1 0 0 0 0 0 42
C12orf29, CEP290 12 1 20 6 1 0 0 0 0 38
TCTN3 3 1 14 11 9 0 0 0 0 38
CACNA1A 10 5 19 0 0 0 0 0 3 36
CAMTA1 9 5 17 3 0 0 0 0 1 35
CACNA1G 3 1 25 2 1 0 0 0 1 33
PRPS1 4 1 18 2 8 0 0 0 0 33
B9D1 6 3 14 7 4 0 0 0 0 32
PCSK9 0 0 29 3 0 0 0 0 0 32
VPS13D 9 5 13 0 0 0 0 0 0 27
WDR81 3 0 16 5 2 0 0 0 1 27
GATAD1, PEX1 5 15 4 0 0 0 0 0 1 24
ATP8A2 5 9 8 1 0 0 0 0 0 23
PNKP 8 2 14 0 0 0 0 0 0 23
SNX14 11 3 9 0 0 0 0 0 0 23
CTNNB1 2 21 0 0 0 0 0 3 0 22
PEX2 4 7 10 0 0 0 0 0 0 21
ATXN2 6 0 2 6 5 0 1 0 0 20
TMEM43, XPC 0 0 1 13 10 0 0 0 0 20
TP53 0 20 0 0 0 0 0 0 0 20
WDR73 12 6 2 0 1 0 0 0 0 20
TPP1 7 1 10 0 0 0 0 0 2 19
ABCB7 4 1 9 0 4 0 0 0 0 18
GRM1 7 0 5 0 5 0 0 0 0 17
KCNC3 5 1 4 5 4 0 0 0 0 17
ARMC9 10 11 3 0 0 0 0 0 0 16
ATP1A3 7 6 3 0 0 0 0 0 0 16
ATP2B3 1 2 6 1 6 0 0 0 0 16
SCYL1 11 2 3 0 0 0 0 0 0 16
FLVCR2, LOC102724153 0 0 9 0 6 0 0 0 0 15
B9D2 3 1 3 2 5 0 0 0 0 14
JMJD8, STUB1 9 4 1 0 0 0 0 0 0 14
PIBF1 9 5 4 0 0 0 0 0 0 14
CWF19L1 5 6 2 0 0 0 0 0 0 13
TTC21B 0 0 9 1 3 0 0 0 0 13
AFG3L2, TUBB6 0 0 7 0 5 0 0 0 0 12
CCDC88C 1 1 10 0 0 0 0 0 0 12
DNMT1 3 3 7 0 0 0 0 0 0 12
FXN 8 1 1 1 1 0 0 0 0 12
​intergenic 10 0 0 0 1 0 0 0 0 11
ERCC2, KLC3 0 0 8 2 1 0 0 0 0 11
GRID2 7 2 2 0 0 0 0 0 0 11
PIK3CA 0 11 0 0 0 0 0 0 0 11
PMPCA 6 0 5 0 0 0 0 0 0 11
PUM1 3 5 4 0 0 0 0 0 1 11
TOGARAM1 10 8 1 0 0 0 0 0 0 11
ATP6V0A2, TCTN2 0 0 1 2 8 0 0 0 0 10
PDE6D 2 2 2 4 1 0 0 0 0 10
RNF168 4 0 3 0 3 0 0 0 0 10
PEX16 3 1 4 0 0 0 0 0 1 9
SACS, SGCG 0 0 0 8 1 0 0 0 0 9
STUB1 9 0 1 0 0 0 0 0 0 9
CEP120 5 0 3 0 0 0 0 0 0 8
MME 4 0 4 0 0 0 0 0 0 8
CYB561A3, TMEM138 0 0 6 1 0 0 0 0 0 7
ATXN1, LOC108663993 1 0 0 2 3 0 0 0 0 6
ATXN10, LOC107181287, LOC108660404 5 0 0 0 1 0 0 0 0 6
COA7 5 0 1 0 0 0 0 0 0 6
CTDP1 1 0 0 1 4 0 0 0 0 6
ELOVL5 2 0 2 1 1 0 0 0 0 6
KATNIP 2 4 1 0 0 0 0 0 0 6
RUBCN 1 0 5 0 0 0 0 0 0 6
TMEM240 5 1 0 0 1 0 0 0 0 6
CA8 2 3 0 0 0 0 0 0 0 5
ELOVL4 2 1 2 0 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
IDH1 0 5 0 0 0 0 0 0 0 5
PIK3R5 1 0 5 0 0 0 0 0 0 5
POLH 5 0 0 0 0 0 0 0 0 5
PTCH2 1 0 4 0 0 0 0 0 0 5
TDP2 4 0 1 0 0 0 0 0 0 5
ZNF592 0 0 3 0 2 0 0 0 0 5
ATN1, LOC109461484 2 0 0 0 2 0 0 0 0 4
ATXN3, LOC108663987 2 0 0 0 2 0 0 0 0 4
CPLANE1, LOC105374727 0 0 3 1 0 0 0 0 0 4
CREBBP 0 4 0 0 0 0 0 0 0 4
FAT2, SLC36A1 2 0 4 0 0 0 0 0 0 4
KIAA0753 3 1 0 0 0 0 0 0 0 4
LOC108663996, TBP 1 0 1 1 1 0 0 0 0 4
NPHP3-ACAD11, UBA5 3 1 0 0 0 0 0 0 0 4
PEX10, PLCH2 1 3 0 0 0 0 0 0 0 4
PLD3, PRX 3 0 0 0 1 0 0 0 0 4
SLC9A1 2 0 2 0 0 0 0 0 0 4
SYT14 1 0 1 1 2 0 0 0 0 4
VWA3B 2 1 1 0 0 0 0 0 0 4
XRCC1 2 0 2 0 0 0 0 0 0 4
ATXN7 1 0 1 0 1 0 0 0 0 3
ATXN7, LOC108660406 1 0 1 0 1 0 0 0 0 3
C2CD3 3 0 0 0 0 0 0 0 0 3
DDX3X 0 0 0 0 0 0 0 3 0 3
GDAP2 3 0 0 0 0 0 0 0 0 3
IFT140 3 0 0 0 0 0 0 0 0 3
LOC109504727, NOP56 2 0 0 0 1 0 0 0 0 3
LOC112486209, WWOX 0 2 1 0 0 0 0 0 0 3
NRAS 0 3 0 0 0 0 0 0 0 3
PEX11B 3 0 0 0 0 0 0 0 0 3
PEX13 2 0 1 0 0 0 0 0 0 3
TMEM218 3 0 0 0 0 0 0 0 0 3
APOB, APOB3'MAR 0 0 2 0 0 0 0 0 0 2
ARL3 2 0 0 0 0 0 0 0 0 2
ATXN1 0 0 1 1 0 0 0 0 0 2
ATXN10 0 0 2 0 0 0 0 0 0 2
CBY1 2 0 0 0 0 0 0 0 0 2
CLUAP1 0 2 0 0 0 0 0 0 0 2
EEF2 1 0 0 0 0 0 0 0 1 2
EP300 0 2 0 0 0 0 0 0 0 2
ERCC1 0 0 2 0 0 0 0 0 0 2
FAM149B1 2 1 0 0 0 0 0 0 0 2
HYLS1, PUS3 0 2 0 0 0 0 0 0 0 2
INTS1 0 0 2 0 0 0 0 0 0 2
LOC108660405, PPP2R2B 0 0 0 0 2 0 0 0 0 2
LOC110120570, LOC112486209, WWOX 0 0 2 0 0 0 0 0 0 2
PCNA 1 1 1 0 0 0 0 0 0 2
PLD3 1 0 2 0 0 0 0 0 0 2
PMM2 0 2 0 0 0 0 0 0 0 2
THG1L 1 0 1 0 0 0 0 0 0 2
USH2A 0 0 2 0 0 0 0 0 0 2
AADACL3, AADACL4, C1orf158, DHRS3, MFN2, MIIP, PLOD1, PRAMEF1, PRAMEF11, PRAMEF12, TNFRSF1B, TNFRSF8, VPS13D 0 0 1 0 0 0 0 0 0 1
AASDHPPT, ACAT1, ALG9, ALKBH8, AMOTL1, ANGPTL5, ANKRD49, ARHGAP20, ARHGAP42, ATM, BIRC2, BIRC3, BTG4, C11orf1, C11orf52, C11orf53, C11orf65, C11orf87, CARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, CCDC82, CEP126, CEP57, CFAP300, CNTN5, COLCA2, CRYAB, CUL5, CWC15, CWF19L2, DCUN1D5, DDI1, DDX10, DIXDC1, DLAT, DYNC2H1, ELMOD1, ENDOD1, EXPH5, FAM76B, FDX1, FDXACB1, FUT4, GRIA4, GUCY1A2, HOATZ, HSPB2, JRKL, KBTBD3, KDM4D, KDM4E, LAYN, LOC100128088, LOC728196, MAML2, MIR34B, MIR34C, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, MRE11, MSANTD4, MTMR2, NKAPD1, NPAT, PDGFD, PGR, PIH1D2, PIWIL4, POGLUT3, POU2AF1, PPP2R1B, RAB39A, RDX, SDHD, SESN3, SIK2, SLC35F2, SLN, SRSF8, TIMM8B, TMEM123, TMEM133, TRPC6, YAP1, ZC3H12C 1 0 0 0 0 0 0 0 0 1
ABCA4 0 0 1 0 0 0 0 0 0 1
ACAT1, ATM, NPAT 0 0 1 0 0 0 0 0 0 1
ACRBP, ATN1, C12orf57, C1R, C1RL, C1S, CD27, CD4, CDCA3, CHD4, CLSTN3, COPS7A, EMG1, ENO2, GAPDH, GNB3, GPR162, IFFO1, ING4, LAG3, LPAR5, LPCAT3, LRRC23, LTBR, MIR141, MIR200C, MLF2, MRPL51, NCAPD2, NOP2, P3H3, PEX5, PHB2, PIANP, PTMS, PTPN6, RBP5, SCNN1A, SPSB2, TAPBPL, TNFRSF1A, TPI1, USP5, VAMP1, ZNF384 0 0 1 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
AGPAT2, C9orf163, EGFL7, ENTR1, INPP5E, MIR126, NOTCH1, PMPCA, SEC16A 0 0 1 0 0 0 0 0 0 1
ALK 0 0 1 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
ARID1A 0 0 0 0 0 0 0 1 0 1
ARID1B 0 0 0 0 0 0 0 1 0 1
ARL13B, DHFR2 0 0 1 0 0 0 0 0 0 1
ARL13B, DHFR2, NSUN3, PROS1, STX19 0 0 1 0 0 0 0 0 0 1
ARL13B, PROS1, STX19 0 0 1 0 0 0 0 0 0 1
ATG5 1 0 0 0 0 0 0 0 0 1
ATM, NPAT 1 0 0 0 0 0 0 0 0 1
ATN1 1 0 0 0 0 0 0 0 0 1
ATXN3 0 0 0 0 1 0 0 0 0 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
BRAF 0 1 0 0 0 0 0 0 0 1
C12orf29, C12orf50, CEP290, KITLG, TMTC3 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, MPP4, TMEM237 1 0 0 0 0 0 0 0 0 1
C2CD6, TMEM237 1 0 0 0 0 0 0 0 0 1
CACNA1A, LOC108663985 1 0 0 0 0 0 0 0 0 1
CAV3 0 0 1 0 0 0 0 0 0 1
CDC42BPA, COQ8A 1 0 0 0 0 0 0 0 0 1
CHN1 0 1 0 0 0 0 0 0 0 1
COPS5, CSPP1, PPP1R42 0 0 1 0 0 0 0 0 0 1
CRYGD, LOC100507443 0 0 0 1 0 0 0 0 0 1
DAB1 1 0 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
EGOT, ITPR1, ITPR1-DT, LOC112935932 1 0 0 0 0 0 0 0 0 1
ENG 0 0 0 0 1 0 0 0 0 1
ERCC5 1 0 0 0 0 0 0 0 0 1
ESR1, FBXO5, LINC02840, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 0 0 0 1
EXOC8 0 0 1 0 0 0 0 0 0 1
FGF14, MIR2681 0 1 0 0 0 0 0 0 0 1
FHL1, SLC9A6 0 0 1 0 0 0 0 0 0 1
FMR1 1 0 0 0 0 0 0 0 0 1
FMR1, FRAXA, LOC107032825 1 0 0 0 0 0 0 0 0 1
FOXO3 0 0 0 0 0 0 0 1 0 1
FTO, RPGRIP1L 0 0 0 1 0 0 0 0 0 1
FXN, LOC108510657 1 0 0 0 0 0 0 0 0 1
GH-LCR, SCN4A 0 0 0 1 0 0 0 0 0 1
GJB1 0 0 1 0 0 0 0 0 0 1
GTPBP2, POLH, POLR1C 0 0 1 0 0 0 0 0 0 1
IFT140, LOC105371046 1 0 0 0 0 0 0 0 0 1
IFT172 1 0 0 0 0 0 0 0 0 1
INCA1, KIF1C 1 0 0 0 0 0 0 0 0 1
INPP5E, SEC16A 0 0 1 0 0 0 0 0 0 1
ITPR1, ITPR1-DT, LOC112935931, LOC112935932, SETMAR, SUMF1 1 0 0 0 0 0 0 0 0 1
KIAA1109 0 1 0 0 0 0 0 0 0 1
KIF1A 0 0 1 0 0 0 0 0 0 1
KIF7 0 0 1 0 0 0 0 0 0 1
KMT2D 1 0 0 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
LRRC34 0 0 1 0 0 0 0 0 0 1
LRRCC1 0 1 0 0 0 0 0 0 0 1
LRRK2 1 0 0 0 0 0 0 0 0 1
MAGED2 0 1 0 0 0 0 0 0 0 1
MFN2 0 1 0 0 0 0 0 0 0 1
MICAL3, PEX26 0 0 1 0 0 0 0 0 0 1
MICALL2 1 0 0 0 0 0 0 0 0 1
MID1 1 0 0 0 0 0 0 0 0 1
MIR548L, MRE11 0 1 0 0 0 0 0 0 0 1
MMUT 0 0 1 0 0 0 0 0 0 1
MSH2 0 0 0 0 0 0 0 0 1 1
MT-ATP6 1 0 0 0 0 0 0 0 0 1
MT-CYB 0 0 1 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
NOP56 0 0 1 0 0 0 0 0 0 1
PDGFRB 0 1 0 0 0 0 0 0 0 1
PDPR 0 0 0 1 0 0 0 0 0 1
PEX13, PUS10 0 0 1 0 0 0 0 0 0 1
PITRM1 1 0 0 0 0 0 0 0 0 1
PKD2 0 0 0 0 1 0 0 0 0 1
PLEKHG4 0 0 1 0 0 0 0 0 0 1
POLG 1 0 0 0 0 0 0 0 0 1
PPP1CB 0 1 0 0 0 0 0 0 0 1
PPP2R2B 0 0 1 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
RB1 0 0 1 0 0 0 0 0 0 1
RCOR1 0 1 0 0 0 0 0 0 0 1
RET 0 0 1 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
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
SLC30A7 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
SMYD3 0 0 1 0 0 0 0 0 0 1
SOS1 0 0 0 0 1 0 0 0 0 1
TBP 0 0 1 0 0 0 0 0 0 1
TMEM17 0 0 1 0 0 0 0 0 0 1
TMEM47 0 1 0 0 0 0 0 0 0 1
TRPC3 1 0 0 0 0 0 0 0 0 1
TUBA1A 0 1 0 0 0 0 0 0 0 1
VHL 1 0 0 0 0 0 0 0 0 1
WDPCP 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

Submitter and significance breakdown #

Total submitters: 182
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
Invitae 1857 380 8282 3247 797 0 0 0 0 14562
Illumina Clinical Services Laboratory,Illumina 11 11 4094 698 1084 0 0 0 0 5871
Counsyl 101 690 409 76 20 0 0 0 0 1296
Natera, Inc. 82 7 542 88 88 0 0 0 0 807
OMIM 628 1 7 0 4 0 1 0 0 641
Mendelics 70 42 218 78 81 0 0 0 0 489
Baylor Genetics 109 42 295 0 0 0 0 0 0 446
Fulgent Genetics,Fulgent Genetics 99 10 288 2 1 0 0 0 0 400
UW Hindbrain Malformation Research Program,University of Washington 276 13 0 0 0 0 0 0 0 289
GeneReviews 244 0 0 0 17 0 0 0 0 261
Integrated Genetics/Laboratory Corporation of America 129 37 0 0 0 0 0 0 0 166
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 2 15 53 60 0 0 0 0 131
Centre for Mendelian Genomics,University Medical Centre Ljubljana 31 15 61 5 4 0 0 0 0 116
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 10 22 72 0 0 0 0 106
Genomic Research Center, Shahid Beheshti University of Medical Sciences 24 8 60 4 1 0 0 0 0 97
Genetic Services Laboratory, University of Chicago 48 24 9 0 0 0 0 0 0 81
Database of Curated Mutations (DoCM) 1 78 0 0 0 0 0 0 0 79
Institute of Human Genetics, Klinikum rechts der Isar 38 20 0 0 0 0 0 0 0 58
Institute of Human Genetics, University of Leipzig Medical Center 12 5 34 5 2 0 0 0 0 58
Broad Institute Rare Disease Group, Broad Institute 8 16 21 2 6 0 0 0 0 53
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 2 24 24 0 0 0 0 51
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 3 20 24 0 0 0 0 48
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 10 16 8 0 0 0 0 0 0 34
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 0 7 6 17 0 0 0 0 33
Myriad Women's Health, Inc. 8 25 0 0 0 0 0 0 0 33
University of Washington Center for Mendelian Genomics, University of Washington 0 28 2 0 0 0 0 0 0 30
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 12 15 0 0 0 0 0 0 0 27
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 5 13 4 1 0 0 0 0 0 23
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 22 22
Paris Brain Institute,Inserm - ICM 22 0 0 0 0 0 0 0 0 22
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 4 9 8 0 0 0 0 0 0 21
Mayo Clinic Laboratories, Mayo Clinic 2 1 17 0 0 0 0 0 0 20
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 18 0 0 0 0 0 0 20
Undiagnosed Diseases Network,NIH 8 7 2 0 0 0 0 0 0 17
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 9 2 0 0 0 0 0 0 16
SIB Swiss Institute of Bioinformatics 0 4 7 1 4 0 0 0 0 16
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 10 3 1 0 0 0 0 0 0 14
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 6 3 1 0 0 0 0 0 14
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 8 4 2 0 0 0 0 0 0 14
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 7 5 2 0 0 0 0 0 0 14
Johns Hopkins Genomics, Johns Hopkins University 6 4 4 0 0 0 0 0 0 14
Elsea Laboratory,Baylor College of Medicine 3 0 10 0 0 0 0 0 0 13
UCLA Clinical Genomics Center, UCLA 1 12 0 0 0 0 0 0 0 13
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 0 0 12 0 12
Medical Molecular Genetics Department, National Research Center 12 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 12
Medical Genetics Laboratory,Tarbiat Modares University 9 1 2 0 0 0 0 0 0 12
Clinical Genetics laboratory, University of Goettingen 1 2 8 0 0 0 0 0 0 11
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 8 2 0 0 0 0 0 11
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 2 4 0 0 0 0 0 0 10
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 8 2 0 0 0 0 0 0 10
Rare Disease Group, Clinical Genetics,Karolinska Institutet 5 1 4 0 1 0 0 0 0 10
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 1 6 2 0 0 0 0 0 10
New York Genome Center 1 3 6 0 0 0 0 0 0 10
Service de Génétique Moléculaire,Hôpital Robert Debré 1 2 2 4 0 0 0 0 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 4 3 0 0 0 0 0 0 9
Reproductive Health Research and Development,BGI Genomics 1 2 5 1 0 0 0 0 0 9
Athena Diagnostics Inc 0 0 0 0 8 0 0 0 0 8
Centogene AG - the Rare Disease Company 3 5 0 0 0 0 0 0 0 8
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 5 1 0 0 0 0 0 0 8
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 4 0 4 0 0 0 0 0 0 8
Codex Genetics Limited 7 1 0 0 0 0 0 0 0 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 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
Claritas Genomics 6 0 0 0 0 0 0 0 0 6
Institute of Human Genetics,Cologne University 5 1 0 0 0 0 0 0 0 6
Hadassah Hebrew University Medical Center 0 6 0 0 0 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 5 0 1 0 0 0 0 0 0 6
Institute of Medical Genetics,University of Zurich 4 2 0 0 0 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, Oman 5 0 1 0 0 0 0 0 0 6
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 2 2 2 0 0 0 0 0 0 6
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 0 2 0 0 0 0 0 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 5 0 0 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
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 0 5
Laboratory of Genetics in Ophthalmology,Institut Imagine 4 0 1 0 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 0 4
Kariminejad - Najmabadi Pathology & Genetics Center 3 0 1 0 0 0 0 0 0 4
Laboratory of Medical Genetics, INSERM 4 0 0 0 0 0 0 0 0 4
Department of Neurology,Taipei Veterans General Hospital 4 0 0 0 0 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 0 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
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 4 0 0 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
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 4 0 0 0 0 0 0 0 0 4
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 3 0 0 0 0 0 0 0 3
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 2 0 0 0 0 0 0 3
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 0 2 1 0 0 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 2 0 0 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
Ege University Pediatric Genetics,Ege University 1 0 2 0 0 0 0 0 0 3
TIDEX, University of British Columbia 2 0 1 0 0 0 0 0 0 3
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 1 1 0 0 0 0 0 0 3
Molecular and Clinical Genetics,Institute of Human Genetics P.A.S. 3 0 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 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 1 0 0 0 0 0 0 0 3
Nilou-Genome Lab 0 0 0 1 2 0 0 0 0 3
Pars Genome Lab 0 0 2 1 0 0 0 0 0 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 2 0 0 0 0 0 0 0 2
King Laboratory,University of Washington 1 1 0 0 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory,Seoul National University Hospital 2 0 0 0 0 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 2 2
DNA Repair Laboratory,Institute of Biomedical Sciences - University of Sao Paulo 2 0 0 0 0 0 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 0 0 0 0 2
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 2 0 0 0 0 0 0 2
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 2 0 0 0 0 0 0 2
Center for Individualized Medicine,Mayo Clinic 1 1 0 0 0 0 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 2 0 0 0 0 0 0 0 0 2
Genetic Diagnostic Laboratory,University of Szeged 1 1 0 0 0 0 0 0 0 2
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 2 0 0 0 0 0 0 0 0 2
Universitätsklinikum Salzburg,Universitätskinderklinik 1 1 0 0 0 0 0 0 0 2
Research Group Niklas Dahl,Uppsala University 2 0 0 0 0 0 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 0 0 2 0 0 0 0 0 0 2
Kasturba Medical College, Manipal University 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
Pediatric Genomics Discovery Program,Yale University 1 1 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
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 1 0 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 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
Breda Genetics srl 2 0 0 0 0 0 0 0 0 2
Institute of Human Genetics,Heidelberg University 2 0 0 0 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 1 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 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 1 0 0 0 0 0 0 2
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 1 1 0 0 0 0 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 2 0 0 0 0 0 0 0 0 2
Section for Clinical Neurogenetics,University of Tübingen 2 0 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
School of Computer Science,University of Waterloo 2 0 0 0 0 0 0 0 0 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 1 0 0 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 0 1 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 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 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
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
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 0 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 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
Phosphorus, Inc. 0 0 1 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 0 0 0 0 1
Snyder Lab, Genetics Department,Stanford 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
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 0 0 0 0 1
StellarGene Technologies Pvt. Ltd. 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
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 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 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
Cancer Diagnostics Division,Gene Solutions 0 1 0 0 0 0 0 0 0 1
IRCCS Fondazione Stella Maris,University of Pisa 1 0 0 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 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
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 0 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 0 0 0 1
Pediatric Neurology,Northwest Women’s and Children’s Hospital 1 0 0 0 0 0 0 0 0 1
Neurology,Jichi Medical University 1 0 0 0 0 0 0 0 0 1
Genome Medicine,Institute for Basic Research in Developmental Disabilities 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
NxGen MDx 0 1 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 1 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 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
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
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

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