ClinVar Miner

Variants studied for cataract (disease)

Included ClinVar conditions (220):
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 other not provided total
2464 924 3150 814 609 1 50 7624

Gene and significance breakdown #

Total genes and gene combinations: 186
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
COL4A5 770 34 26 4 19 0 1 848
NSD1 175 38 92 55 17 0 0 373
GALT 234 73 69 8 35 0 0 338
COL4A4 22 70 159 37 22 0 0 303
COL4A3, MFF-DT 33 76 102 24 20 0 0 239
CEP290 57 21 118 26 29 0 0 228
GLA, RPL36A-HNRNPH2 117 47 48 22 9 1 3 224
DHCR7 43 70 89 14 15 0 2 198
EPG5 30 13 107 16 31 0 0 190
WT1 8 1 108 59 11 0 0 184
MAN2B1 24 52 103 15 10 0 0 183
CC2D2A 19 24 96 20 8 0 0 153
DM1, DMPK, LOC107075317, LOC109461477 145 0 0 0 1 0 0 146
PEX1 19 71 50 4 7 0 0 140
LOC107982234, WT1 3 0 103 27 9 0 0 135
RPGRIP1L 19 5 79 14 12 0 0 123
NSD2 1 0 56 56 2 0 0 115
PEX6 18 33 49 9 10 0 1 114
AGPS 4 0 88 13 8 0 0 112
RAB3GAP2 2 1 86 18 6 0 0 109
MKS1 15 29 62 10 4 0 0 108
TMEM67 17 33 51 3 7 0 0 99
PEX26 7 2 54 23 9 0 0 95
FAM126A 5 1 59 12 16 0 1 94
PEX12 16 30 40 6 5 0 0 92
PEX7 18 32 42 3 3 0 0 90
ESCO2 28 2 42 6 6 0 0 82
PEX2 9 7 54 8 6 0 0 81
PEX5 3 0 60 7 3 0 0 73
CLPB 23 1 36 6 8 0 0 71
NPHP3, NPHP3-ACAD11 3 0 55 9 3 0 0 70
ELP4, PAX6 2 0 31 24 12 0 0 69
OCRL 23 3 8 1 3 0 32 68
PEX10 7 18 37 4 3 0 0 68
GATAD1, PEX1 8 22 36 1 0 0 1 63
PEX13 6 0 45 4 4 0 0 58
PEX19 2 0 43 10 3 0 0 57
GNPAT 9 1 39 6 2 0 0 56
ALDH18A1 12 4 25 5 8 0 1 54
GALK1 8 11 32 4 3 0 0 53
TCTN2 6 0 31 8 17 0 0 53
RECQL4 10 4 37 0 0 0 0 51
TMEM216 5 13 29 2 4 0 0 49
SIL1 11 0 24 7 7 0 0 45
FYCO1 9 0 12 5 17 0 0 43
COL2A1 30 7 3 1 0 0 0 41
EPHA2 6 2 10 6 17 0 0 41
GALE 12 2 27 1 2 0 0 41
HSF4 6 2 23 9 1 0 1 41
PEX16 2 0 29 7 4 0 1 41
PHYH 1 4 28 8 5 0 0 40
MIP 5 1 13 12 10 0 0 39
NHS 20 1 4 3 11 0 0 39
GJA8 9 1 20 7 2 0 0 38
AGK 11 1 22 1 2 0 0 37
GNAS 28 6 4 0 0 0 0 37
PEX14 2 0 26 5 4 0 0 35
PEX3 2 1 27 3 2 0 0 35
BEST1 4 0 13 9 7 0 0 33
TMEM231 7 1 12 6 6 0 0 31
BFSP2 2 0 12 14 5 0 0 30
CRYGD, LOC100507443 8 0 6 11 6 0 0 29
FTL 13 0 9 4 0 0 0 26
AGK, DENND11 1 2 18 4 0 0 0 25
PXDN 4 0 6 3 11 0 0 24
B9D2 4 0 16 2 2 0 0 23
GJA3 11 0 9 0 3 0 0 23
MAF 12 1 6 1 1 0 0 21
NFIX 13 3 3 1 1 0 0 21
TCTN1 0 0 6 8 7 0 0 21
ARSL 12 2 4 1 2 0 0 20
B9D1 3 1 10 4 4 0 0 20
BEST1, FTH1 0 0 0 13 6 0 0 19
FTL, GYS1 0 0 0 17 2 0 0 19
BFSP1 3 0 4 4 7 0 0 18
NDP 17 1 0 0 0 0 0 18
PITX2 0 0 8 9 1 0 0 18
ITPR1 13 2 2 0 0 0 1 17
WFS1 1 0 16 0 0 0 0 17
NSDHL 12 3 0 0 0 0 0 15
PAX6 1 0 5 8 1 0 0 15
PEX10, RER1 0 0 14 0 0 0 0 14
CRYGC, LOC100507443 5 0 4 1 3 0 0 13
COL4A3 4 2 6 0 0 0 0 12
CRYAA 7 0 1 0 4 0 0 12
CRYBB3 2 0 6 2 2 0 0 12
GLA 12 0 0 0 0 0 0 12
TDRD7 4 0 3 0 5 0 0 12
COL11A2 4 0 5 0 0 0 2 11
MIPEP 7 2 3 0 0 0 0 11
COL11A1 4 3 3 0 0 0 0 10
GCNT2 5 0 3 0 2 0 0 10
ATP6V0A2, TCTN2 0 0 1 6 2 0 0 9
C12orf29, CEP290 0 2 6 1 0 0 0 9
CRYBA1 4 2 2 0 1 0 0 9
CRYBA4 3 0 3 0 3 0 0 9
CRYBB2 3 3 2 0 1 0 0 9
GALK1, ITGB4 0 0 4 1 4 0 0 9
B9D2, TMEM91 0 0 8 0 0 0 0 8
COL9A2 1 1 5 0 0 0 1 8
DMPK 6 0 1 0 1 0 0 8
FBXL8, HSF4 0 0 3 4 1 0 0 8
SLC33A1 8 0 0 0 0 0 0 8
IARS2 6 0 1 0 0 0 0 7
CRYBB1 4 0 2 0 0 0 0 6
CRYGB, LOC100507443 2 0 2 0 2 0 0 6
IKBKG 6 0 0 0 0 0 0 6
LIM2 3 0 1 0 2 0 0 6
PEX10, PLCH2 1 3 2 0 0 0 0 6
PITX3 2 0 4 0 0 0 0 6
PYCR1 5 0 1 0 0 0 0 6
VIM 3 0 2 0 2 0 0 6
COL4A5, COL4A6 4 1 0 0 0 0 0 5
COL9A1 2 0 3 0 0 0 0 5
CRYAB 4 0 1 0 0 0 0 5
CRYGS 3 0 1 0 1 0 0 5
GFER 2 2 0 0 0 0 2 5
LOC113788293, PEX2 0 0 5 0 0 0 0 5
PEX13, PUS10 0 0 5 0 0 0 0 5
SLC25A4 4 0 1 0 0 0 0 5
ATOH7 4 0 0 0 0 0 0 4
CRYBA4, CRYBB1 1 0 2 0 1 0 0 4
CTDP1 1 0 0 0 3 0 0 4
KIF14 2 0 2 0 0 0 0 4
LOC106014249, PAX6 0 0 4 0 0 0 0 4
LSS 4 0 0 0 0 0 0 4
MED25 2 1 1 0 0 0 0 4
​intergenic 2 0 0 0 1 0 0 3
CHMP4B 2 0 0 0 1 0 0 3
MSMO1 3 0 0 0 0 0 0 3
TMEM107 3 0 0 0 0 0 0 3
XYLT2 2 1 0 0 0 0 0 3
APC2 1 0 1 0 0 0 0 2
DM1, DMPK, LOC107075317 0 0 2 0 0 0 0 2
EPM2A 0 0 2 0 0 0 0 2
FOXE3, LINC01389 2 0 0 0 0 0 0 2
GALE, HMGCL 0 0 0 1 1 0 0 2
LOC106707172, LOC107982234, WT1 2 0 0 0 0 0 0 2
TXNDC15 0 2 0 0 0 0 0 2
XDH 0 0 2 0 0 0 0 2
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, ATP5ME, BLOC1S4, C4orf48, C4orf50, CCDC96, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CYTL1, DGKQ, DOK7, EVC, EVC2, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HTRA3, HTT, IDUA, JAKMIP1, KIAA0232, LETM1, LINC01587, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, NKX1-1, NOP14, NSD2, NSG1, OTOP1, PCGF3, PDE6B, PIGG, POLN, PPP2R2C, PSAPL1, RGS12, RNF212, RNF4, S100P, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC49A3, SORCS2, SPON2, STK32B, STX18, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TNIP2, TRMT44, UVSSA, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732 1 0 0 0 0 0 0 1
ACOD1, ALG11, ARL11, ATP7B, ATXN8OS, BORA, C13orf42, CAB39L, CCDC70, CDADC1, CKAP2, CLN5, CNMD, COMMD6, CYSLTR2, DACH1, DHRS12, DIAPH3, DIS3, DLEU1, DLEU2, DLEU7, EBPL, EDNRB, FAM124A, FBXL3, FNDC3A, HNRNPA1L2, INTS6, ITM2B, KCNRG, KCTD12, KLF12, KLF5, KLHL1, KPNA3, LINC00331, LINC00333, LINC00345, LINC00347, LINC00348, LINC00351, LINC00355, LINC00358, LINC00364, LINC00374, LINC00375, LINC00376, LINC00377, LINC00378, LINC00381, LINC00382, LINC00383, LINC00392, LINC00393, LINC00395, LINC00402, LINC00430, LINC00434, LINC00444, LINC00446, LINC00448, LINC00458, LINC00459, LINC00462, LINC00550, LINC00558, LINC00561, LINC00562, LINC00564, LINC01038, LINC01052, LINC01065, LINC01068, LINC01069, LINC01074, LINC01075, LINC01078, LINC01080, LINC01442, LINC02333, LINC02338, LINC02339, LMO7, LMO7DN, LMO7DN-IT1, LOC100129307, LOC100288208, LOC101929657, LOC102723968, LOC105370203, LOC107457599, LOC107882127, LOC107882129, LOC109461478, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120891, LOC110120897, LOC110120909, LOC110120945, LOC110120946, LOC110120950, LOC110121360, LOC110121375, LOC111365190, LOC112163662, LOC112163663, LOC112163664, LOC112163665, LOC112163666, LOC112163667, LOC112163668, LOC112163669, LOC112163670, LOC112163671, LOC112163672, LOC113939939, LOC647264, LOC780529, LPAR6, MED4, MIR1297, MIR15A, MIR16-1, MIR3169, MIR3613, MIR3665, MIR4703, MIR4704, MIR5007, MIR548X2, MIR5693, MIR759, MLNR, MYCBP2, MZT1, NDFIP2, NEK3, NEK5, NUDT15, OBI1, OLFM4, PCDH17, PCDH20, PCDH8, PCDH9, PHF11, PIBF1, POU4F1, PRR20A, PRR20B, PRR20C, PRR20D, PRR20E, RB1, RB1-DT, RBM26, RCBTB1, RCBTB2, RNASEH2B, SCEL, SERPINE3, SETDB2, SETDB2-PHF11, SLAIN1, SLITRK1, SLITRK6, SNORA107, SPRY2, SPRYD7, SUCLA2, SUGT1, TBC1D4, TDRD3, THSD1, TMEM272, TRIM13, UCHL3, UTP14C, VPS36, WDFY2 1 0 0 0 0 0 0 1
ACTRT1, DCAF12L1, LOC113875008, OCRL, PRR32, SMARCA1 1 0 0 0 0 0 0 1
ADAMTS1, ADAMTS5, APP, ATP5PF, BACH1, BACH1-IT2, BACH1-IT3, CCT8, CLDN17, CLDN8, CYYR1, D21S2088E, GABPA, GRIK1, HUNK, JAM2, KRTAP11-1, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LINC00113, LINC00158, LINC00159, LINC00161, LINC00189, LINC00307, LINC00308, LINC00314, LINC00317, LINC00515, LINC01425, LINC01673, LINC01684, LINC01687, LINC01689, LINC01692, LINC01695, LINC01697, LOC107403075, LOC110121429, LOC112694735, LOC150051, LTN1, MAP3K7CL, MIR155, MIR155HG, MIR4327, MIR4759, MIR6130, MIS18A, MRAP, MRPL39, N6AMT1, RWDD2B, SCAF4, SNORA80A, SOD1, TIAM1, URB1, USP16 1 0 0 0 0 0 0 1
ADAMTS1, ADAMTS5, APP, ATP5PF, BAGE2, BTG3, C21orf91, C21orf91-OT1, CHODL, CXADR, CYYR1, D21S2088E, GABPA, HSPA13, JAM2, LINC00158, LINC00308, LINC00317, LINC00320, LINC00515, LINC01425, LINC01549, LINC01674, LINC01683, LINC01684, LINC01687, LINC01689, LINC01692, LINC02246, LINC02573, LIPI, LOC105377134, LOC107403075, LOC107403153, LOC110121341, LOC110121368, LOC110121429, LOC112694732, LOC112694733, LOC112694734, LOC388813, MIR125B2, MIR155, MIR155HG, MIR3118-1, MIR3156-3, MIR4759, MIR548X, MIR548XHG, MIR6130, MIR8069-2, MIR99A, MIR99AHG, MIRLET7C, MRPL39, NCAM2, NRIP1, POTED, RBM11, SAMSN1, SNORD74B, TMPRSS15, TPTE, TRG-GCC1-5, USP25 1 0 0 0 0 0 0 1
ADAMTS1, ADAMTS5, APP, ATP5PF, BTG3, C21orf91, C21orf91-OT1, CHODL, CXADR, CYYR1, D21S2088E, GABPA, HSPA13, JAM2, LINC00113, LINC00158, LINC00308, LINC00317, LINC00320, LINC00515, LINC01425, LINC01549, LINC01673, LINC01683, LINC01684, LINC01687, LINC01689, LINC01692, LINC02246, LINC02573, LIPI, LOC105377134, LOC107403075, LOC107403153, LOC110121341, LOC110121368, LOC110121429, LOC112694732, LOC112694733, LOC112694734, LOC388813, MIR125B2, MIR155, MIR155HG, MIR4759, MIR548X, MIR548XHG, MIR6130, MIR99A, MIR99AHG, MIRLET7C, MRPL39, NCAM2, NRIP1, RBM11, SAMSN1, SNORD74B, TMPRSS15, TRG-GCC1-5, USP25 1 0 0 0 0 0 0 1
ADAMTS16, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BRD9, C5orf17, C5orf38, C5orf49, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH9, CEP72, CLPTM1L, CMBL, CTNND2, DAP, DNAH5, EXOC3, FASTKD3, FBXL7, ICE1, IRX1, IRX2, IRX4, LINC01194, LPCAT1, LRRC14B, MARCHF11, MARCHF6, MED10, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULINL, PDCD6, PLEKHG4B, PRDM9, RETREG1, ROPN1L, SDHA, SEMA5A, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622 1 0 0 0 0 0 0 1
ADAMTS16, ADCY2, AHRR, BRD9, C5orf38, C5orf49, CCDC127, CEP72, CLPTM1L, EXOC3, FASTKD3, ICE1, IRX1, IRX2, IRX4, LPCAT1, LRRC14B, MED10, MRPL36, MTRR, NDUFS6, NKD2, NSUN2, PDCD6, PLEKHG4B, SDHA, SEMA5A, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B 1 0 0 0 0 0 0 1
ADGRA3, DHX15, GBA3, KCNIP4, PACRGL, PPARGC1A, SLIT2 1 0 0 0 0 0 0 1
ADNP2, ATP9B, BCL2, C18orf63, CBLN2, CCDC102B, CD226, CDH19, CDH20, CDH7, CNDP1, CNDP2, CTDP1, CYB5A, DIPK1C, DOK6, DSEL, FBXO15, GALR1, HMSD, HSBP1L1, KCNG2, KDSR, LINC00683, LINC01879, MBP, MC4R, NETO1, NFATC1, PARD6G, PHLPP1, PIGN, RBFA, RELCH, RNF152, RTTN, SALL3, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SLC66A2, SMIM21, SOCS6, TIMM21, TMX3, TNFRSF11A, TSHZ1, TXNL4A, VPS4B, ZADH2, ZCCHC2, ZNF236, ZNF407, ZNF516 1 0 0 0 0 0 0 1
ANO3, ANO5, ARL14EP, BBOX1, BDNF, CCDC179, CCDC34, CCDC73, CSTF3, DCDC1, DEPDC7, DNAJC24, EIF3M, ELP4, FANCF, FIBIN, FSHB, GAS2, IMMP1L, KCNA4, KIF18A, LGR4, LIN7C, LINC00294, LUZP2, METTL15, MIR610, MPPED2, MUC15, NELL1, PAX6, PRRG4, QSER1, RCN1, SLC17A6, SLC5A12, SVIP, TCP11L1, WT1 1 0 0 0 0 0 0 1
ARL14EP, CCDC73, DCDC1, DNAJC24, EIF3M, ELP4, FSHB, IMMP1L, KCNA4, MPPED2, PAX6, RCN1, WT1 1 0 0 0 0 0 0 1
ATG4A, COL4A5, COL4A6 0 1 0 0 0 0 0 1
C4orf48, CRIPAK, FAM53A, FGFR3, HAUS3, LETM1, MAEA, MXD4, NAT8L, NELFA, NKX1-1, NSD2, POLN, SLBP, TACC3, TMEM129, UVSSA, ZFYVE28 1 0 0 0 0 0 0 1
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 1 0 0 0 0 0 0 1
COL18A1 0 1 0 0 0 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 0 0 1
COL5A1 0 1 0 0 0 0 0 1
CRYGC 1 0 0 0 0 0 0 1
CSPP1 0 1 0 0 0 0 0 1
DMPK, LOC107075317 0 0 1 0 0 0 0 1
DYNLRB2, LINC01227, LINC01229, LOC102724084, LOC110120569, LOC110120570, LOC111365156, LOC111365213, LOC111429607, LOC112486209, MAF, MAFTRR, WWOX 1 0 0 0 0 0 0 1
EVC2 0 1 0 0 0 0 0 1
EXOC3L2 0 1 0 0 0 0 0 1
EXOC4, LOC101928861 0 1 0 0 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 0 0 1
G6PD, IKBKG 0 0 1 0 0 0 0 1
GALT, IL11RA 1 0 0 0 0 0 0 1
KIAA0586 0 1 0 0 0 0 0 1
LEMD2 1 0 0 0 0 0 0 1
MIR204, TRPM3 1 0 0 0 0 0 0 1
MMAA 0 0 1 0 0 0 0 1
MYLK2 0 0 1 0 0 0 0 1
NACC1 1 1 0 0 0 0 0 1
RAB3GAP1 1 0 0 0 0 0 0 1
RHO 1 0 0 0 0 0 0 1
SIPA1L3 1 0 0 0 0 0 0 1
SLC16A12 1 0 0 0 0 0 0 1
SNORD118, TMEM107 0 0 1 0 0 0 0 1
TALDO1 0 0 1 0 0 0 0 1
TMEM138 0 1 0 0 0 0 0 1
TMEM237 0 1 0 0 0 0 0 1
TSPAN12 1 0 0 0 0 0 0 1
UNC45B 1 0 0 0 0 0 0 1
UPF3B 0 0 1 0 0 0 0 1
WRN 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 117
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Illumina Clinical Services Laboratory,Illumina 12 11 1790 547 215 0 0 2574
Invitae 326 70 741 210 313 1 0 1661
Research and Development, ARUP Laboratories 962 4 19 5 52 0 0 1042
Counsyl 69 507 321 33 1 0 0 931
OMIM 615 0 2 0 0 0 0 617
Genetic Services Laboratory, University of Chicago 177 38 38 0 0 0 0 253
Fulgent Genetics,Fulgent Genetics 60 12 153 1 0 0 0 226
Integrated Genetics/Laboratory Corporation of America 102 50 1 1 7 0 0 161
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 51 56 50 0 0 0 0 156
GeneReviews 136 0 2 0 10 0 0 148
Institute of Molecular, Cell and Systems Biology, University of Glasgow 146 0 0 0 0 0 0 146
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 82 0 0 0 0 0 83
Albrecht-Kossel-Institute,Medical University Rostock 21 9 16 0 0 0 0 46
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 41 0 0 0 1 43
Genomic Research Center,Shahid Beheshti University of Medical Sciences 8 7 25 1 0 0 0 41
Baylor Genetics 30 3 3 1 0 0 0 37
UniProtKB/Swiss-Prot 0 0 0 0 0 0 33 33
SIB Swiss Institute of Bioinformatics 6 13 9 0 4 0 0 32
Center for Human Genetics, Inc 8 9 8 5 1 0 0 31
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 1 5 20 0 0 28
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 10 14 0 0 0 0 0 24
Athena Diagnostics Inc 0 0 0 0 21 0 0 21
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 7 14 0 0 0 0 0 21
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 2 7 7 0 0 18
GenomeConnect, ClinGen 0 0 0 0 0 0 16 16
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 1 13 0 0 0 0 15
Color 0 1 3 6 5 0 0 15
Molecular Diagnostics Laboratory,M Health: University of Minnesota 6 8 0 0 0 0 0 14
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 3 10 0 0 0 0 0 13
Institute of Human Genetics,Klinikum rechts der Isar 10 2 0 0 0 0 0 12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 11 0 1 0 0 0 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 5 5 0 0 0 0 11
Institute of Human Genetics,Cologne University 3 5 2 0 0 0 0 10
Division of Human Genetics,Children's Hospital of Philadelphia 6 1 3 0 0 0 0 10
Genetic Diagnostic Laboratory,University of Szeged 9 1 0 0 0 0 0 10
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 5 4 0 0 0 0 9
Center of Genomic medicine, Geneva,University Hospital of Geneva 5 3 0 0 0 0 0 8
Undiagnosed Diseases Network,NIH 4 3 2 0 0 0 0 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 0 2 3 0 0 7
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità 7 0 0 0 0 0 0 7
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 7 0 0 0 0 0 0 7
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 3 3 1 0 0 0 0 7
Department of Genetics,Sultan Qaboos University Hospital, Oman 5 1 1 0 0 0 0 7
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 4 2 1 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 0 6
Johns Hopkins Genomics,Johns Hopkins University 3 2 1 0 0 0 0 6
Knight Diagnostic Laboratories,Oregon Health and Sciences University 3 1 1 0 0 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 2 0 1 0 0 4
Blueprint Genetics 1 2 1 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 0 4 0 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 3 0 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 0 0 0 0 0 0 4
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 4 0 0 0 0 0 4
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 4 0 0 0 0 4
Broad Institute Rare Disease Group,Broad Institute 0 3 1 0 0 0 0 4
Biochemistry Laboratory of CDMU,Chengde Medical University 4 0 0 0 0 0 0 4
Eye Genetics Research Group,Children's Medical Research Institute 2 0 1 0 0 0 0 3
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 1 0 0 0 3
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 3 0 0 0 0 0 0 3
Medical Genetics, University of Pavia 3 0 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 2 0 0 0 0 3
Laboratoire de Cytogenetique,Hospices Civils de Lyon 2 1 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 1 0 0 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 0 0 2
Center for Medical Genetics Ghent,University of Ghent 2 0 0 0 0 0 0 2
Medical Genetics Section,University of Rome Tor Vergata 2 0 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 0 2
Department of Genetics,Fundacion Jimenez Diaz University Hospital 2 0 0 0 0 0 0 2
Molecular Medicine Center, Medical University of Sofia 2 0 0 0 0 0 0 2
Ege University Pediatric Genetics,Ege University 1 0 1 0 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 2 0 0 0 0 2
Institute of Reproductive and Stem Cell Engineering,Central South University 2 0 0 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 1 1 0 0 0 0 0 2
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 0 2 0 0 0 0 0 2
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 1 1 0 0 0 0 0 2
Felix Claverie-Martin Laboratory,Hospital Universitario Nuestra Senora de Candelaria 2 0 0 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 0 0 1
McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University 1 0 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 0 1
Samuels research lab,Centre de Recherche du CHU Ste-Justine 1 0 0 0 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 1 0 0 0 0 0 0 1
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 0 1 0 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 0 0 1
Erez Levanon lab,Bar Ilan University 1 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 0 1
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 0 0 1
Medical Genetic Institute of Henan Province,Henan Provincial People’s Hospital 1 0 0 0 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 1 0 0 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 1 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 0 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 0 1
Biochimie Génétique et moléculaire,CHUGA 1 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 1 0 0 0 1
Leeds Institute of Biomedical and Clinical Sciences,University of Leeds 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 0 0 0 0 1 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 0 1
Zheng Lab,Zhongnan Hospital of Wuhan University 1 0 0 0 0 0 0 1
Pediatric Nephrology (Iijima Lab),Kobe University Graduate School of Medicine 1 0 0 0 0 0 0 1
Laboratory of Molecular Pathology,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1 0 0 0 0 0 0 1
Lilac Insights Pvt. Ltd. 0 0 1 0 0 0 0 1
Unidade de Endocrinologia Genetica - LIM25,Universidade de Sao Paulo (USP) 0 1 0 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 0 0 1
Schule lab,Hertie Institute for Clinical Brain Research 1 0 0 0 0 0 0 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 1 0 0 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 1 0 0 0 0 0 0 1
Renal Department,Renmin Hospital of Wuhan University 1 0 0 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 0 1 0 0 0 0 0 1
Department of Ophthalmology,Fourth Military Medical University 1 0 0 0 0 0 0 1

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