ClinVar Miner

Variants studied for cerebellar disease

Included ClinVar conditions (278):
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
2147 1157 7153 2255 1023 1 1 12 43 13136

Gene and significance breakdown #

Total genes and gene combinations: 272
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
ATM 378 200 1649 455 62 0 0 0 0 2613
ATM, C11orf65 233 145 992 243 24 0 0 0 2 1566
SYNE1 34 10 500 271 142 0 0 0 1 852
SACS 36 206 180 19 7 1 0 0 2 439
CACNA1A 63 11 197 47 54 0 0 0 23 381
MRE11 15 10 235 49 18 0 0 0 0 310
SUFU 21 5 177 62 10 0 0 0 0 269
CEP290 75 12 119 26 29 0 0 0 0 242
CPLANE1 65 12 120 40 36 0 0 0 0 230
SETX 18 2 112 28 27 0 0 0 0 187
CC2D2A 49 7 95 20 8 0 0 0 0 168
ERCC4 8 1 104 35 26 0 0 0 0 166
ITPR1 10 3 72 73 9 0 0 0 1 164
APOB 21 0 101 37 0 0 0 0 0 159
POLH 18 3 112 19 7 0 0 0 0 157
KCNA1 15 1 71 42 20 0 0 0 1 149
AHI1 50 7 55 22 23 0 0 0 0 145
WWOX 10 3 90 20 20 0 0 0 1 143
RPGRIP1L 32 8 79 14 12 0 0 0 0 139
CYP27A1 61 30 57 7 9 0 0 0 0 138
XPC 28 40 62 5 5 0 0 0 0 136
SPG7 37 14 46 10 16 0 0 0 3 116
TMEM67 47 12 54 3 7 0 0 0 0 116
SPTBN2 6 5 58 40 8 0 0 0 2 114
FLVCR1 4 0 66 10 29 0 0 0 0 107
CACNB4 1 0 44 48 13 0 0 0 0 104
COQ8A 23 9 46 12 10 0 0 0 0 95
DYNC1H1 0 0 68 26 0 0 0 0 0 94
INPP5E 18 3 40 23 20 0 0 0 0 92
MKS1 20 23 42 7 3 0 0 0 0 90
CEP41 4 0 65 13 6 0 0 0 0 86
BIVM-ERCC5, ERCC5 15 3 46 18 13 0 0 0 0 83
MTTP 12 3 43 23 12 0 0 0 0 83
XPA 13 37 30 4 2 0 0 0 0 83
TTC21B 0 0 59 14 5 0 0 0 0 78
OFD1 21 2 24 7 22 0 0 0 0 76
PCSK9 0 0 45 30 0 0 0 0 0 75
ATCAY 1 0 52 16 4 0 0 0 0 73
TTPA 17 17 31 4 5 0 0 0 0 68
TMEM237 7 3 50 6 3 0 0 0 0 66
PRKCG 27 3 17 15 6 0 0 0 0 65
ANO10 11 3 38 12 4 0 0 0 0 62
KCNJ10 11 1 37 10 4 0 0 0 1 61
SLC1A3 3 0 18 28 12 0 0 0 0 61
TWNK 6 5 23 21 5 0 0 0 0 60
ZNF423 1 0 24 11 25 0 0 0 0 59
ARL13B 7 1 40 9 3 0 0 0 0 58
BRCA2 22 0 35 0 1 0 0 0 0 58
TCTN2 13 0 31 7 14 0 0 0 0 58
ERCC2 15 4 31 3 4 0 0 0 0 57
PEX6 10 25 19 2 0 0 0 0 0 56
KIAA0586 20 3 11 4 17 0 0 0 0 55
TTBK2 3 0 25 25 2 0 0 0 0 55
TGM6 5 0 14 27 7 0 0 0 0 53
TMEM216 5 12 30 4 5 0 0 0 0 53
TDP1 1 0 29 15 7 0 0 0 0 52
PDYN 4 0 27 14 5 0 0 0 0 50
PEX12 6 28 16 0 0 0 0 0 0 50
SLC9A6 12 3 16 9 12 0 0 0 0 50
PEX7 13 5 29 2 3 0 0 0 0 49
FGF14 3 0 20 21 5 0 0 0 0 47
AFG3L2 15 1 10 16 4 0 0 0 0 46
SIL1 11 0 24 7 7 0 0 0 0 45
ERCC3 8 0 29 7 0 0 0 0 0 44
KCND3 4 1 23 5 11 0 0 0 0 44
CSPP1 24 1 12 2 4 0 0 0 0 43
MAF, WWOX 2 0 27 8 6 0 0 0 0 43
PEX1 3 32 6 0 0 0 0 0 0 41
PEX10 9 18 16 1 0 0 0 0 0 41
PHYH 1 4 28 8 5 0 0 0 0 40
TCTN1 4 0 22 13 7 0 0 0 0 39
KIF1C 3 2 19 5 11 0 0 0 0 38
TMEM138 5 0 26 1 1 0 0 0 0 31
ESR1, SYNE1 0 0 16 6 8 0 0 0 0 30
POLR3A 25 1 5 0 0 0 0 0 0 30
TMEM231 6 1 10 6 7 0 0 0 0 30
NPHP1 1 0 22 3 1 0 0 0 0 27
DDB2 4 0 20 1 1 0 0 0 0 26
INCA1, KIF1C 2 1 15 4 3 0 0 0 0 25
CEP104 7 1 7 0 9 0 0 0 0 24
CTNNB1 2 21 0 0 0 0 0 3 0 22
PEX2 4 7 9 0 0 0 0 0 0 20
PRPS1 4 0 8 7 2 0 0 0 0 20
TMEM43, XPC 0 0 1 13 6 0 0 0 0 20
TP53 0 20 0 0 0 0 0 0 0 20
APTX 13 1 0 1 1 0 0 0 0 16
B9D1 6 1 5 2 3 0 0 0 0 16
PNKP 5 1 10 0 0 0 0 0 0 16
GATAD1, PEX1 1 10 3 0 0 0 0 0 1 15
TPP1 6 0 7 0 0 0 0 0 1 14
TCTN3 3 0 5 3 3 0 0 0 0 13
ARMC9 9 1 2 0 0 0 0 0 0 12
ATXN2 1 0 0 6 4 0 1 0 0 12
GRM1 5 0 2 0 5 0 0 0 0 12
KCNC3 5 0 1 4 4 0 0 0 0 12
SNX14 10 1 1 0 0 0 0 0 0 12
AFG3L2, TUBB6 0 0 4 6 1 0 0 0 0 11
ATP1A3 6 3 2 0 0 0 0 0 0 11
ERCC1 0 0 6 2 3 0 0 0 0 11
PIK3CA 0 11 0 0 0 0 0 0 0 11
WDR73 9 2 0 0 0 0 0 0 0 11
​intergenic 9 0 0 0 1 0 0 0 0 10
ATP2B3 1 0 2 1 6 0 0 0 0 10
C12orf29, CEP290 0 2 7 1 0 0 0 0 0 10
CACNA1G 3 0 6 1 0 0 0 0 0 10
CAMTA1 4 3 3 0 0 0 0 0 0 10
FXN 8 1 0 0 1 0 0 0 0 10
PEX26 5 0 4 1 0 0 0 0 0 10
PNPLA6 8 0 2 0 0 0 0 0 0 10
VLDLR 6 1 2 1 0 0 0 0 0 10
ATP6V0A2, TCTN2 0 0 1 6 2 0 0 0 0 9
NKX6-2 8 0 1 0 0 0 0 0 0 9
SACS, SGCG 0 0 0 8 1 0 0 0 0 9
ARFGEF1, CSPP1 2 0 3 1 3 0 0 0 0 8
B9D2 3 1 2 1 1 0 0 0 0 8
MSTO1 5 3 1 0 0 0 0 0 0 8
PEX16 3 1 3 0 0 0 0 0 1 8
PIBF1 6 2 1 0 0 0 0 0 0 8
VPS13D 7 0 1 0 0 0 0 0 0 8
APOB, APOB3'MAR 0 0 5 2 0 0 0 0 0 7
CYB561A3, TMEM138 0 0 6 1 0 0 0 0 0 7
GRID2 6 1 0 0 0 0 0 0 0 7
JMJD8, STUB1 4 3 0 0 0 0 0 0 0 7
RNF216 7 0 0 0 0 0 0 0 0 7
STUB1 7 0 0 0 0 0 0 0 0 7
WDR81 2 0 2 0 2 0 0 0 1 7
ATXN10, LOC107181287, LOC108660404 5 0 0 0 1 0 0 0 0 6
CCDC88C 1 0 5 0 0 0 0 0 0 6
DNMT1 3 0 3 0 0 0 0 0 0 6
PEX5 2 0 3 0 1 0 0 0 0 6
PMPCA 6 0 0 0 0 0 0 0 0 6
TMEM240 6 1 0 0 0 0 0 0 0 6
ABCB7 4 1 0 0 0 0 0 0 0 5
ATP8A2 1 1 3 0 0 0 0 0 0 5
CEP120 5 0 0 0 0 0 0 0 0 5
CWF19L1 3 1 1 0 0 0 0 0 0 5
ERCC2, KLC3 0 0 5 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
MARS2 3 0 2 0 0 0 0 0 0 5
MTPAP 1 0 2 0 2 0 0 0 0 5
PTCH2 1 0 4 0 0 0 0 0 0 5
RNF170 1 1 2 1 0 0 0 0 0 5
SCYL1 4 1 0 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
ATXN1, LOC108663993 1 0 0 0 3 0 0 0 0 4
CA8 2 2 0 0 0 0 0 0 0 4
CREBBP 0 4 0 0 0 0 0 0 0 4
CTDP1 1 0 0 0 3 0 0 0 0 4
ELOVL4 2 1 1 0 0 0 0 0 0 4
FLVCR2 0 0 4 0 0 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
PUM1 1 3 0 0 0 0 0 0 0 4
ATXN3, LOC108663987 2 0 0 0 1 0 0 0 0 3
C2CD3 3 0 0 0 0 0 0 0 0 3
CACNA1A, LOC108663985 3 0 0 0 0 0 0 0 0 3
DDX3X 0 0 0 0 0 0 0 3 0 3
IFT140 3 0 0 0 0 0 0 0 0 3
KIAA0753 3 0 0 0 0 0 0 0 0 3
LOC108663996, TBP 0 0 1 1 1 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
PDE6D 1 1 0 1 0 0 0 0 0 3
PEX11B 3 0 0 0 0 0 0 0 0 3
POLR3B 1 1 1 0 0 0 0 0 0 3
RNF168 3 0 0 0 0 0 0 0 0 3
SLC9A1 1 0 2 0 0 0 0 0 0 3
SYT14 1 0 0 0 2 0 0 0 0 3
XRCC1 2 0 1 0 0 0 0 0 0 3
APOB, LOC106560211 0 0 1 1 0 0 0 0 0 2
ATXN7 1 0 1 0 0 0 0 0 0 2
ATXN7, LOC108660406 1 0 1 0 0 0 0 0 0 2
CLUAP1 0 2 0 0 0 0 0 0 0 2
CPLANE1, LOC105374727 0 0 1 1 0 0 0 0 0 2
EEF2 1 0 0 0 0 0 0 0 1 2
ELOVL5 2 0 0 0 0 0 0 0 0 2
EP300 0 2 0 0 0 0 0 0 0 2
FAT2, SLC36A1 2 0 2 0 0 0 0 0 0 2
GLRX5 2 0 0 0 0 0 0 0 0 2
KIAA0556 2 1 0 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
PEX13 2 0 0 0 0 0 0 0 0 2
RUBCN 1 0 1 0 0 0 0 0 0 2
TDP2 2 0 0 0 0 0 0 0 0 2
USH2A 0 0 2 0 0 0 0 0 0 2
VHL 2 0 0 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
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
ALK 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
ATG5 1 0 0 0 0 0 0 0 0 1
ATN1 1 0 0 0 0 0 0 0 0 1
ATXN1 0 0 0 1 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
BAP1 0 0 1 0 0 0 0 0 0 1
BEAN1 1 0 0 0 0 0 0 0 0 1
C2CD6, MPP4, TMEM237 1 0 0 0 0 0 0 0 0 1
CACNA1A, LOC111365163, LOC112543459 1 0 0 0 0 0 0 0 0 1
CACNA1A, LOC112543459 1 0 0 0 0 0 0 0 0 1
CDC42BPA, COQ8A 1 0 0 0 0 0 0 0 0 1
CDH1 0 0 1 0 0 0 0 0 0 1
CHN1 0 1 0 0 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
DNAJC3 1 0 0 0 0 0 0 0 0 1
DPH1 0 1 0 0 0 0 0 0 0 1
EGOT, ITPR1, ITPR1-DT, LOC112935932 1 0 0 0 0 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
FLVCR2, LOC102724153 0 0 1 0 0 0 0 0 0 1
FMR1 1 0 0 0 0 0 0 0 0 1
FMR1, LOC107032825, LOC108684022 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
GTPBP2, POLH 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
ITPR1, ITPR1-DT, LOC112935931, LOC112935932, SETMAR, SUMF1 1 0 0 0 0 0 0 0 0 1
KCNMA1 0 0 1 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
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
LRRCC1 0 1 0 0 0 0 0 0 0 1
MAGED2 0 1 0 0 0 0 0 0 0 1
MICALL2 1 0 0 0 0 0 0 0 0 1
MIR548L, MRE11 0 1 0 0 0 0 0 0 0 1
MME 1 0 0 0 0 0 0 0 0 1
MSH2 0 0 0 0 0 0 0 0 1 1
MSH6 0 0 1 0 0 0 0 0 0 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
PCNA 1 0 0 0 0 0 0 0 0 1
PEX13, PUS10 0 0 1 0 0 0 0 0 0 1
PIK3R5 1 0 0 0 0 0 0 0 0 1
PLD3 1 0 1 0 0 0 0 0 0 1
PLEKHG4 0 0 1 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
SCN2A 1 0 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
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 1 0 0 0 0 0 0 1
TAPBPL, VAMP1 1 0 0 0 0 0 0 0 0 1
TBP 1 0 0 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
VWA3B 1 0 0 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: 120
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
Invitae 871 189 4129 1088 617 0 0 0 0 6892
Illumina Clinical Services Laboratory,Illumina 11 10 2457 1072 300 0 0 0 0 3848
Counsyl 106 686 408 76 20 0 0 0 0 1296
OMIM 690 1 7 0 2 0 1 0 0 701
Fulgent Genetics,Fulgent Genetics 101 12 302 2 1 0 0 0 0 418
GeneReviews 272 0 0 0 17 0 0 0 0 289
UW Hindbrain Malformation Research Program,University of Washington 265 13 0 0 0 0 0 0 0 278
Mendelics 29 8 128 6 1 0 0 0 0 172
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 3 2 15 54 65 0 0 0 0 139
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 3 1 10 22 77 0 0 0 0 113
Genomic Research Center,Shahid Beheshti University of Medical Sciences 26 11 61 3 0 0 0 0 0 101
Genetic Services Laboratory, University of Chicago 57 31 9 0 0 0 0 0 0 97
Integrated Genetics/Laboratory Corporation of America 63 21 0 0 0 0 0 0 0 84
Database of Curated Mutations (DoCM) 1 78 0 0 0 0 0 0 0 79
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 2 24 24 0 0 0 0 52
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 3 20 24 0 0 0 0 48
Baylor Miraca Genetics Laboratories, 13 5 12 0 0 0 0 0 0 30
Athena Diagnostics Inc 0 0 0 0 27 0 0 0 0 27
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 4 1 21 0 0 0 0 0 0 26
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 10 14 0 0 0 0 0 0 0 24
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 22 22
Broad Institute Rare Disease Group,Broad Institute 2 10 9 0 0 0 0 0 0 21
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 20 20
Undiagnosed Diseases Network,NIH 9 6 4 0 0 0 0 0 0 19
SIB Swiss Institute of Bioinformatics 0 6 7 1 4 0 0 0 0 18
UCLA Clinical Genomics Center, UCLA 1 15 0 0 0 0 0 0 0 16
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 8 4 2 0 0 0 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 11 0 0 0 0 0 0 13
Center of Genomic medicine, Geneva,University Hospital of Geneva 5 6 1 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 4 6 2 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
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 1 10 0 0 0 0 0 0 12
Rare Disease Group, Clinical Genetics,Karolinska Institutet 5 0 5 0 1 0 0 0 0 11
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 3 7 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 2 5 0 0 0 0 0 0 10
Knight Diagnostic Laboratories,Oregon Health and Sciences University 3 6 0 0 0 0 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 2 3 0 0 0 0 0 0 8
Neurogenetics of motion laboratory,Montreal Neurological Institute 8 0 0 0 0 0 0 0 0 8
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 5 2 1 0 0 0 0 0 0 8
Claritas Genomics 6 0 0 0 0 0 0 0 0 6
MyeliNeuroGene Lab,McGill University Health Center Research Institute 6 0 0 0 0 0 0 0 0 6
Division of Human Genetics,Children's Hospital of Philadelphia 5 0 1 0 0 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 4 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 5 0 1 0 0 0 0 0 0 6
Institute of Human Genetics,Klinikum rechts der Isar 2 3 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
Institute of Human Genetics,Cologne University 4 0 0 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
E. Rossignol Lab,CHU Ste-Justine, Universite de Montreal 3 1 0 0 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 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
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
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
Institute of Human Genetics,University of Wuerzburg 0 1 2 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 Diagnostics Laboratory,M Health: University of Minnesota 2 1 0 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
Biesecker Lab/Human Development 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
Molecular Diagnostics Laboratory,Seoul National University Hospital 2 0 0 0 0 0 0 0 0 2
DNA Repair Laboratory,Institute of Biomedical Sciences - University of Sao Paulo 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
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
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 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
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 2 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 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
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
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 1 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
Department of Pediatrics, Union Hospital,Tongji Medical College, Huazhong University of Science and Technology 0 1 1 0 0 0 0 0 0 2
Institute of Human Genetics,Heidelberg University 2 0 0 0 0 0 0 0 0 2
Genetic Diseases Diagnostic Center,Koc University Hospital 0 2 0 0 0 0 0 0 0 2
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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
State Key Lab of Medical Genetics, Central South University 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
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
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 1 0 0 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 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
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 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
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
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 1 0 0 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 0 1
University Hospital of Lyon,Hospices Civils de Lyon 1 0 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
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 0 0 0 1
Myelin Disorders Clinic/Medical Genetics Lab, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 0 0 0 1

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