ClinVar Miner

Variants studied for developmental defect of the eye

Included ClinVar conditions (365):
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 not provided total
2326 966 5127 1769 1115 72 10848

Gene and significance breakdown #

Total genes and gene combinations: 328
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHD7 174 27 234 63 62 1 518
FLNA 18 5 201 75 92 1 392
LOC107303340, VHL 100 32 172 56 13 0 357
FRAS1 15 2 181 65 44 0 301
VHL 75 24 160 48 7 0 299
CBS 37 67 109 41 16 1 240
FREM2 9 1 163 33 29 0 234
CEP290 60 21 118 26 29 0 231
ADAMTS17 5 0 135 31 41 0 211
EP300 31 8 102 62 19 2 209
FBN1 14 10 81 82 18 1 204
DHCR7 43 70 89 14 15 2 199
JAG1 50 6 78 45 26 0 194
WT1 8 1 108 59 11 0 184
CREBBP 101 30 29 6 12 1 177
BBS10 43 65 64 10 7 0 169
PTPN11 62 18 56 11 15 6 157
ERCC6 10 30 58 50 14 0 155
CC2D2A 19 24 96 20 8 0 153
BBS2 29 36 65 21 10 0 136
LOC107982234, WT1 3 0 103 27 9 0 135
COL11A1 7 4 45 57 20 0 133
SOS1 21 10 71 21 12 2 130
RPGRIP1L 19 5 79 14 12 0 123
BBS12 22 27 57 20 22 0 122
PAX6 88 7 15 10 2 1 122
RAB3GAP2 7 2 86 18 6 0 115
BBS9 24 3 49 27 25 0 112
MKS1 19 29 62 10 4 0 110
KRAS 14 9 48 36 0 1 107
TMEM67 18 37 52 3 7 0 101
LTBP2 1 0 87 9 0 0 97
TCOF1 35 4 15 23 21 1 97
BBS1, ZDHHC24 25 23 46 5 8 0 96
ASTN2, TRIM32 4 1 80 9 3 0 95
SOS2 2 4 47 23 16 1 92
MOCS1 5 2 55 29 2 0 91
IRF6 13 4 36 18 19 0 90
COL18A1 8 2 48 23 9 0 89
MITF 15 10 34 21 4 0 82
BBS4 23 6 29 10 17 0 81
RAB18 5 0 54 13 9 0 81
ELP4, PAX6 6 1 32 24 12 0 75
PAX3 22 25 13 14 1 0 74
BCOR 21 4 23 2 24 0 73
MKKS 17 3 35 10 10 0 73
NPHP3, NPHP3-ACAD11 3 0 55 9 3 0 70
COL18A1, SLC19A1 7 0 40 13 11 0 68
RAF1 16 20 28 12 0 2 68
C1QTNF5, MFRP 4 1 53 7 1 0 66
GRIP1 2 0 50 8 7 0 66
OCRL 21 3 8 1 3 32 66
VSX2 5 0 44 15 5 0 66
BBS7 15 4 33 6 10 0 64
ADAMTS10 8 0 38 13 3 0 62
RIPK4 0 0 38 14 10 0 62
WDPCP 2 0 47 11 7 0 62
BRAF 14 16 16 17 1 0 61
DHODH 9 1 39 7 5 0 59
EDN3 6 3 32 19 0 0 59
FOXC1 31 6 14 4 6 0 59
POLR2F, SOX10 15 19 12 10 2 0 58
NRAS 7 0 35 13 0 1 56
GPHN 6 4 27 13 6 0 55
TCTN2 6 0 31 8 17 0 53
EDNRB 6 2 26 16 1 1 51
CYP1B1 5 0 35 4 6 1 50
SUOX 10 3 36 3 1 0 50
TMEM216 5 13 29 2 4 0 49
SDCCAG8 7 4 30 3 6 0 48
BBS1 12 22 11 6 3 1 47
PITX2 21 3 11 9 3 0 46
SHOC2 2 1 18 20 5 1 45
SIL1 11 0 24 7 7 0 45
FYCO1 9 0 12 5 17 0 43
RAB3GAP1 20 0 17 4 2 0 43
ERCC6, ERCC6-PGBD3 1 14 14 9 5 0 42
PIK3R1 13 2 15 4 7 1 42
SF3B4 23 0 6 9 4 0 42
SEMA3E 1 0 32 1 7 0 41
COL2A1 29 7 3 1 0 0 40
EPHA2 6 1 10 6 17 0 40
TTC8 4 0 26 6 6 0 39
GJA8 9 1 20 7 2 0 38
BIVM-ERCC5, ERCC5 15 2 5 7 9 0 33
RRAS 0 0 20 10 3 0 33
RIT1 20 4 9 2 1 1 32
TMEM231 7 1 12 6 6 0 31
BBS5 12 6 3 2 7 0 30
RAB3GAP1, ZRANB3 3 0 17 6 2 0 28
MOCS2 10 1 16 2 0 0 27
STRA6 16 0 1 3 7 0 27
ITGA2, MOCS2 0 0 3 14 9 0 26
ARL6 8 2 11 3 2 0 25
OTX2 17 1 4 0 3 0 25
PIGL 4 0 21 0 0 0 25
PXDN 4 1 6 3 11 0 25
SOX2, SOX2-OT 20 0 4 1 0 0 25
B9D2 4 0 16 2 2 0 23
GJA3 11 0 9 0 3 0 23
LZTR1 13 3 9 0 0 0 23
PAX2 11 2 6 1 3 1 22
FLNA, LOC107988032 1 0 14 1 5 0 21
TCTN1 0 0 6 8 7 0 21
B9D1 3 1 10 4 4 0 20
HESX1 10 1 8 1 1 0 20
BFSP1 3 0 6 4 7 0 19
CDKL5, RS1 9 8 1 0 0 0 18
CYP1B1, RMDN2 0 0 15 3 0 0 18
HSF4 6 2 7 1 1 1 18
NDP 17 1 0 0 0 0 18
SNAI2 1 0 17 0 0 0 18
MAP2K1 2 2 4 9 0 0 17
MAP2K1, SNAPC5 0 0 14 3 0 0 17
WFS1 1 0 16 0 0 0 17
ERCC6, ERCC6-PGBD3, PGBD3 1 1 8 5 1 0 16
ITPR1 13 1 2 0 0 1 16
NOTCH2 12 2 2 0 0 0 16
FOXE3, LINC01389 4 2 9 0 1 1 15
CRYGD, LOC100507443 9 0 3 0 3 0 14
MAF 5 1 6 1 1 0 14
SRD5A3 6 0 6 1 1 0 14
TYR 8 4 2 0 0 0 14
CRYGC, LOC100507443 5 0 4 1 3 0 13
DAAM2, MOCS1 0 0 7 4 2 0 13
PRSS56 10 0 3 0 1 0 13
B3GLCT 6 0 4 0 2 0 12
BFSP2 2 0 4 1 5 0 12
CRYAA 7 0 1 0 4 0 12
CRYBB3 2 0 6 2 2 0 12
RARB 4 4 4 0 1 0 12
COL11A2 4 0 5 0 0 2 11
BMP4 6 0 2 0 2 0 10
C12orf29, CEP290 0 2 7 1 0 0 10
CENPF 7 2 1 0 0 0 10
GCNT2 5 0 3 0 2 0 10
MIP 5 1 3 0 2 0 10
SMOC1 7 3 0 0 0 0 10
ATP6V0A2, TCTN2 0 0 1 6 2 0 9
CRYBA1 4 2 2 0 1 0 9
CRYBA4 3 0 3 0 3 0 9
CRYBB2 3 3 2 0 1 0 9
MAP2K2 0 2 4 3 0 0 9
PORCN 7 1 1 0 0 0 9
​intergenic 2 0 6 0 0 0 8
B9D2, TMEM91 0 0 8 0 0 0 8
COL9A2 1 1 5 0 0 1 8
MAP2K1, TIPIN 0 0 4 4 0 0 8
POLR1C 5 3 1 0 0 0 8
UBE3B 7 1 0 0 0 0 8
AGK 1 0 3 1 2 0 7
AKT3, SDCCAG8 0 0 6 0 1 0 7
ERCC2 5 1 1 0 0 1 7
GDF6 4 0 0 1 2 0 7
POLR1D 7 0 0 0 0 0 7
ALDH1A3, LOC101927751 2 1 2 1 0 0 6
CBL 2 3 1 0 0 0 6
CRYBB1 4 0 2 0 0 0 6
CRYGB, LOC100507443 2 0 2 0 2 0 6
PITX3 2 0 4 0 0 0 6
RAX 4 0 1 1 0 0 6
TENM3 6 2 0 0 0 0 6
VIM 3 0 2 0 2 0 6
ADAMTS18 4 0 1 0 0 0 5
BBS4, HIGD2B 0 0 2 2 1 0 5
CCDC140, LOC107980445, PAX3 0 0 3 2 0 0 5
COL9A1 2 0 3 0 0 0 5
CRYAB 4 0 1 0 0 0 5
CRYGS 3 0 1 0 1 0 5
ERCC1 2 1 2 0 0 0 5
GDF3 4 0 1 0 0 0 5
HCCS 4 1 0 0 0 0 5
LIM2 2 0 1 0 2 0 5
LOC106014249, PAX6 0 0 5 0 0 0 5
LRBA, MAB21L2 5 4 0 0 0 0 5
PPP1CB 5 0 0 0 0 0 5
SIX6 2 0 2 1 0 0 5
TBC1D20 5 0 0 0 0 0 5
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 2 0 2 0 0 0 4
COX7B 3 0 1 0 0 0 4
CRYBA4, CRYBB1 1 0 2 0 1 0 4
CTDP1 1 0 0 0 3 0 4
HRAS, LRRC56 1 2 0 1 0 0 4
KIF14 2 0 2 0 0 0 4
LSS 4 0 0 0 0 0 4
LZTFL1 3 0 1 0 0 0 4
NAA10 1 3 0 0 0 0 4
NHS 2 0 2 0 0 0 4
PNPLA6 2 0 2 0 0 0 4
SOX2 4 0 0 0 0 0 4
TWIST2 4 0 0 0 0 0 4
VAX1 1 0 2 1 0 0 4
ABCB6 2 0 1 0 0 0 3
ALDH1A3 1 0 0 0 2 0 3
ASPH 3 0 0 0 0 0 3
C8orf37 2 0 1 0 0 0 3
CHMP4B 2 0 0 0 1 0 3
CPAMD8 3 0 0 0 0 0 3
DCDC1, DNAJC24, ELP4, IMMP1L 3 0 0 0 0 0 3
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6 3 0 0 0 0 0 3
ELN 0 0 3 0 0 0 3
IFT74 2 1 0 0 0 1 3
NDUFB11 2 0 1 0 0 0 3
PRR12 3 0 0 0 0 0 3
PTCH1 0 3 0 0 0 0 3
RBP4 3 0 0 0 0 0 3
SHH 1 1 1 0 0 0 3
TMEM107 3 0 0 0 0 0 3
TMEM98 3 0 0 0 0 0 3
TP63 3 0 0 0 0 0 3
A2ML1 0 0 2 0 0 0 2
BBIP1 1 0 1 0 0 0 2
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980005, PAX6DRR, PAX6_HS8 2 0 0 0 0 0 2
DNASE1L1, EMD, FLNA, RPL10, TAZ 0 0 2 0 0 0 2
ELP4, LOC106007485, LOC106007493, PAX6 2 0 0 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 2
ERCC5 2 0 0 0 0 0 2
FBN1, LOC113939944 0 0 0 2 0 0 2
FOXE3 1 1 0 0 0 0 2
HMX1 2 0 0 0 0 0 2
IFT27, LOC105373021 2 0 0 0 0 0 2
LOC106707172, LOC107982234, WT1 2 0 0 0 0 0 2
MMP19 2 0 0 0 0 0 2
PTPN11, RPL6 0 0 1 1 0 0 2
RALGAPB 0 2 0 0 0 0 2
RS1 2 0 0 0 0 0 2
TXNDC15 0 2 0 0 0 0 2
WNT7B 1 1 0 0 0 0 2
ABCC1, ABCC6, BMERB1, FOPNL, MARF1, MPV17L, MYH11, NDE1, NPIPA5, RRN3 0 0 0 0 0 1 1
ABHD11, BAZ1B, BCL7B, BUD23, CASTOR2, CCL24, CCL26, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, GTF2IRD2, GTF2IRD2B, HIP1, HSPB1, LAT2, LIMK1, MDH2, METTL27, MIR590, MLXIPL, NCF1, POM121C, POR, RCC1L, RFC2, RHBDD2, SPDYE5, SRRM3, SSC4D, STX1A, STYXL1, TBL2, TMEM120A, TMEM270, TRIM73, VPS37D, YWHAG, ZP3 1 0 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, GTF2IRD2, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NCF1, RFC2, STX1A, TBL2, TMEM270, VPS37D 1 0 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 0 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, RFC2, STX1A, TBL2, TMEM270, VPS37D 1 0 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 0 0 0 0 0 1
ACADVL, ACAP1, CHRNB1, CLDN7, CTDNEP1, DVL2, EIF5A, ELP5, FGF11, GABARAP, GPS2, KCTD11, NEURL4, NLGN2, PHF23, PLSCR3, POLR2A, SLC2A4, SLC35G6, SPEM1, SPEM2, TMEM102, TMEM256, TMEM95, TNK1, YBX2, ZBTB4 0 1 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 1
ACTRT1, DCAF12L1, LOC113875008, OCRL, PRR32, SMARCA1 1 0 0 0 0 0 1
ADA2, ATP6V1E1, BCL2L13, BID, CECR2, CECR3, GAB4, HDHD5, IL17RA, MICAL3, PEX26, SLC25A18, TMEM121B, TUBA8, USP18 1 0 0 0 0 0 1
ADA2, CECR3, GAB4, HDHD5, IL17RA, TMEM121B, XKR3 1 0 0 0 0 0 1
ADARB1, C21orf58, COL18A1, COL6A1, COL6A2, DIP2A, FAM207A, FTCD, LINC00163, LINC00315, LINC00334, LSS, MCM3AP, PCBP3, PCNT, POFUT2, PRMT2, S100B, SLC19A1, SPATC1L, YBEY 1 0 0 0 0 0 1
ADCY9, ANKS3, C16orf71, C16orf96, CDIP1, CORO7, CORO7-PAM16, CREBBP, DNAJA3, GLIS2, HMOX2, LINC01569, LINC02861, LOC112441450, LOC113939951, MGRN1, MIR6769A, NMRAL1, NUDT16L1, PAM16, ROGDI, SEPTIN12, SMIM22, SRL, TFAP4, UBALD1, VASN, ZNF500 1 0 0 0 0 0 1
ADCY9, CREBBP, GLIS2, LINC01569, LINC02861, SRL, TFAP4 0 0 1 0 0 0 1
AGK, DENND11 0 0 1 0 0 0 1
AKT3, CEP170, LINC01347, LOC110120698, MIR4677, PLD5, SDCCAG8 1 0 0 0 0 0 1
ALMS1 0 1 0 0 0 0 1
ALPK1, ANK2, AP1AR, ARSJ, CAMK2D, FAM241A, LARP7, LOC110120703, LOC110120805, LOC110120819, LOC111591508, LOC112935973, LOC112935974, LOC112935975, LOC112935976, MIR1243, MIR297, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, MIR8082, NEUROG2, TIFA, ZGRF1 1 0 0 0 0 0 1
ANKRD54, C22orf23, EIF3L, GALR3, GCAT, H1-0, MICALL1, MIR658, MIR659, MIR6820, POLR2F, SOX10 1 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 1
ANO3, ANO5, ARL14EP, BBOX1, BDNF, CCDC179, CCDC34, CSRP3, DBX1, DCDC1, DNAJC24, E2F8, ELP4, FANCF, FIBIN, FSHB, GAS2, HTATIP2, IGSF22, IMMP1L, KCNA4, KIF18A, LGR4, LIN7C, LUZP2, METTL15, MIR610, MPPED2, MRGPRX1, MRGPRX2, MUC15, NAV2, NELL1, PAX6, PRMT3, PTPN5, SLC17A6, SLC5A12, SLC6A5, SPTY2D1, SVIP, TMEM86A, TSG101, UEVLD, ZDHHC13 1 0 0 0 0 0 1
ARF6, DNAAF2, KLHDC1, KLHDC2, LINC01588, LINC01599, LOC100506499, MIR6076, NEMF, POLE2, RN7SL2, RN7SL3, SOS2, VCPKMT 0 0 1 0 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, MEX3A, RAB25, RIT1, RXFP4, SSR2, UBQLN4 0 0 1 0 0 0 1
ARL14EP, CCDC73, DCDC1, DNAJC24, EIF3M, ELP4, FSHB, IMMP1L, KCNA4, MPPED2, PAX6, RCN1, WT1 1 0 0 0 0 0 1
ARL6, CRYBG3 0 1 0 0 0 0 1
BBS1, DPP3, ZDHHC24 0 1 0 0 0 0 1
CCDC140, PAX3 0 0 1 0 0 0 1
CCDC28B 0 0 1 0 0 0 1
CDK5RAP2 0 0 1 0 0 0 1
CEP19 1 0 0 0 0 0 1
CHST5 0 0 0 1 0 0 1
CRYGC 1 0 0 0 0 0 1
CSPP1 0 1 0 0 0 0 1
CYBRD1, DLX1, DLX2, DYNC1I2, HAT1, METAP1D, SLC25A12 0 0 1 0 0 0 1
CYP1B1, LOC110599580 0 0 1 0 0 0 1
DAB1 0 0 0 1 0 0 1
DACT1 0 0 0 1 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980003, LOC105980005, LOC105980073, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980005, LOC105980073, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 1
DMPK 0 0 1 0 0 0 1
DNAJC24, ELP4, IMMP1L, LOC105980005, LOC105980073, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 1
DYNLRB2, LINC01227, LINC01229, LOC102724084, LOC110120569, LOC110120570, LOC111365156, LOC111365213, LOC111429607, LOC112486209, MAF, MAFTRR, WWOX 1 0 0 0 0 0 1
EBF3 1 0 0 0 0 0 1
ELP4, LOC105980003, LOC105980073, PAX6, PAX6DRR 1 0 0 0 0 0 1
ELP4, LOC105980003, LOC106007485, LOC106007493, LOC106014249, PAX6 1 0 0 0 0 0 1
ELP4, PAX6DRR 1 0 0 0 0 0 1
EML5, PTPN21, SPATA7, TTC8, ZC3H14 0 0 1 0 0 0 1
ENPEP, PITX2 1 0 0 0 0 0 1
EPHB2 0 0 0 1 0 0 1
EVC2 0 1 0 0 0 0 1
EXOC3L2 0 1 0 0 0 0 1
EXOC4, LOC101928861 0 1 0 0 0 0 1
FAT1 0 0 0 1 0 0 1
FAT4 0 0 0 1 0 0 1
FIBP 0 1 0 0 0 0 1
FOXC1, FOXF2, FOXQ1, GMDS 1 0 0 0 0 0 1
FOXC1, GMDS 1 0 0 0 0 0 1
FREM1 0 0 0 1 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 0 1
GLI1 0 0 1 0 0 0 1
GLIS3 0 0 0 1 0 0 1
GNAQ 1 0 0 0 0 0 1
HMGB3 1 0 0 0 0 0 1
HTR2B, PSMD1 0 0 1 0 0 0 1
IFT27 1 0 0 0 0 0 1
IGBP1 1 0 0 0 0 0 1
JAG1, LOC112694687, LOC112694688, MIR6870, MKKS, SLX4IP, SNAP25 1 0 0 0 0 0 1
JAG1, MKKS, SLX4IP, SNAP25 1 0 0 0 0 0 1
KCNAB2, NPHP4 0 1 0 0 0 0 1
KIAA0586 0 1 0 0 0 0 1
KIF21A 0 0 0 1 0 0 1
LEMD2 1 0 0 0 0 0 1
LOC107988030, MITF 0 0 0 1 0 0 1
MED13L 1 0 0 0 0 0 1
MIR204, TRPM3 1 0 0 0 0 0 1
MYH10 1 0 0 0 0 0 1
MYRF 1 0 0 0 0 0 1
NPHP1 1 0 0 0 0 0 1
PITRM1 0 0 0 1 0 0 1
PKHD1 0 1 0 0 0 0 1
PRDM5 0 0 1 0 0 0 1
PRPF8 0 0 0 1 0 0 1
RARG 0 0 0 1 0 0 1
SALL2 1 0 0 0 0 0 1
SIPA1L3 1 0 0 0 0 0 1
SLC16A12 0 0 1 0 0 0 1
SNORD118, TMEM107 0 0 1 0 0 0 1
SOX2, SOX2-OT, SOX2-SRR2 1 0 0 0 0 0 1
TFAP2A 1 0 0 0 0 0 1
TMEM138 0 1 0 0 0 0 1
TMEM237 0 1 0 0 0 0 1
TNNT3 0 0 1 0 0 0 1
TRAPPC3 0 1 0 0 0 0 1
TRIM44 1 0 0 0 0 0 1
TSPAN12 1 0 0 0 0 0 1
UNC45B 1 0 0 0 0 0 1
WDR11 0 0 1 0 0 0 1
YAP1 1 0 0 0 0 0 1
ZDBF2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 175
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 17 10 2985 1142 394 0 4546
Invitae 628 104 1582 510 623 0 3445
OMIM 915 0 4 0 0 0 919
Counsyl 56 353 234 27 0 0 670
Fulgent Genetics,Fulgent Genetics 125 27 189 1 0 0 342
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 146 38 40 7 8 0 239
Genetic Services Laboratory, University of Chicago 128 28 52 0 0 0 208
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 138 68 1 0 0 0 207
Integrated Genetics/Laboratory Corporation of America 86 34 2 3 4 0 129
GeneReviews 99 0 2 0 16 0 117
Center for Human Genetics, Inc 37 46 18 6 1 0 108
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 3 0 1 7 90 0 101
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 82 0 0 0 0 83
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 3 2 3 22 48 0 78
Genomic Research Center,Shahid Beheshti University of Medical Sciences 15 14 39 0 0 0 68
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 24 0 7 6 25 0 62
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 12 7 32 0 0 0 51
Laboratory of Genetic Epidemiology,Research Centre of Medical Genetics 40 6 2 0 0 0 48
Genome Diagnostics Laboratory,University Medical Center Utrecht 5 0 0 8 34 0 47
Laboratory of Medical Genetics, INSERM 47 0 0 0 0 0 47
Baylor Genetics 31 6 6 0 0 0 43
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 1 11 30 0 43
Service de Génétique Moléculaire,Hôpital Robert Debré 11 10 8 10 0 0 39
Molecular Pathology, SA Pathology 29 1 5 0 0 0 35
UniProtKB/Swiss-Prot 0 0 0 0 0 32 32
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 13 13 0 0 0 0 26
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 0 0 2 19 5 0 26
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 12 13 0 0 0 0 25
ClinGen RASopathy Variant Curation Expert Panel 24 1 0 0 0 0 25
GenomeConnect, ClinGen 0 0 0 0 0 24 24
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 15 0 7 0 0 0 22
Clinical Genetics Research Group, University of Calgary 18 0 0 0 0 0 18
Center of Genomic medicine, Geneva,University Hospital of Geneva 16 2 0 0 0 0 18
Paul Sabatier University EA-4555, Paul Sabatier University 1 4 0 13 0 0 18
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 9 6 3 0 0 0 18
Laboratory of Human Genetics,Universidade de São Paulo 0 13 0 3 0 0 16
Center for Human Disease Modeling,Duke University Medical Center 1 15 0 0 0 0 16
SBielas Lab, Department of Human Genetics,University of Michigan 16 0 0 0 0 0 16
Molecular Diagnostics Laboratory,M Health: University of Minnesota 5 11 0 0 0 0 16
Eye Genetics Research Group,Children's Medical Research Institute 5 0 10 0 0 0 15
Blueprint Genetics, 11 2 2 0 0 0 15
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 11 2 1 1 0 0 15
SIB Swiss Institute of Bioinformatics 1 5 3 2 4 0 15
Athena Diagnostics Inc 0 0 0 0 13 0 13
Institute of Human Genetics,Klinikum rechts der Isar 11 2 0 0 0 0 13
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 12 12
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 6 6 0 0 0 12
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 6 3 3 0 0 0 12
EVA,EMBL-EBI 11 0 0 0 0 0 11
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 5 6 0 0 0 0 11
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 3 3 5 0 0 0 11
Kasturba Medical College,Manipal University 6 3 2 0 0 0 11
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 5 5 0 0 0 0 10
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 10 0 0 0 10
Genetics Department,University Hospital of Toulouse 4 3 3 0 0 0 10
Department of Medical Genetics, Faculty of Medicine,Ege University 9 0 0 0 0 0 9
Human Genetics - Radboudumc,Radboudumc 6 1 2 0 0 0 9
The Molecular Genetic Diagnosis Center,Children’s Hospital of Fudan University 8 1 0 0 0 0 9
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 8 0 0 0 9
Broad Institute Rare Disease Group,Broad Institute 4 3 2 0 0 0 9
Division of Human Genetics,Children's Hospital of Philadelphia 4 2 2 0 0 0 8
Database of Curated Mutations (DoCM) 0 8 0 0 0 0 8
Department of Genetics,Fundacion Jimenez Diaz University Hospital 8 0 0 0 0 0 8
Yale Center for Mendelian Genomics,Yale University 5 3 0 0 0 0 8
Laboratoire de Genetique Biologique, CHU de Poitiers 7 1 0 0 0 0 8
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 3 1 0 0 0 7
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 3 3 1 0 0 0 7
UCLA Clinical Genomics Center, UCLA 4 3 0 0 0 0 7
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 7 0 0 0 0 0 7
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 0 6 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 5 0 0 0 0 7
Department of Genetics,Sultan Qaboos University Hospital, Oman 7 0 0 0 0 0 7
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 2 3 2 0 0 0 7
Undiagnosed Diseases Network,NIH 5 0 1 0 0 0 6
Phosphorus, Inc. 0 0 6 0 0 0 6
Tolun Lab, Human Genetics Laboratory,Bogazici University 1 0 5 0 0 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 5 0 0 0 6
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 3 0 3 0 0 0 6
Institute of Human Genetics,University of Goettingen 2 2 1 0 0 0 5
Institute of Human Genetics,Cologne University 3 1 1 0 0 0 5
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 4 0 1 0 0 0 5
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 3 0 0 5
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 3 0 2 0 0 0 5
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 3 1 0 1 0 0 5
Laboratory of Medical Genetics,University of Torino 3 2 0 0 0 0 5
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 4 0 0 0 0 0 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 2 1 0 0 0 4
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 2 0 0 0 0 4
Biesecker Lab/Human Development Section,National Institutes of Health 0 3 0 0 0 0 3
Institute for Human Genetics,University Clinic Freiburg 1 1 1 0 0 0 3
Mendelics 1 1 0 1 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 2 0 0 0 0 3
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 1 0 2 0 0 0 3
Institute for Ophthalmic Research,University Tuebingen 1 2 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 2 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Donald Williams Parsons Laboratory,Baylor College of Medicine 2 1 0 0 0 0 3
Ege University Pediatric Genetics,Ege University 2 0 1 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 1 2 0 0 0 0 3
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 1 1 0 0 0 3
Biochemistry Laboratory of CDMU,Chengde Medical University 3 0 0 0 0 0 3
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 2 0 0 0 0 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 2 0 0 0 2
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 1 0 0 0 2
Shaikh Laboratory, University of Colorado 0 2 0 0 0 0 2
Center for Medical Genetics Ghent,University of Ghent 2 0 0 0 0 0 2
CHU Sainte-Justine Research Center,University of Montreal 0 2 0 0 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 2 0 0 0 0 0 2
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 2 0 0 0 0 0 2
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 2 0 0 0 0 0 2
Laboratory of Molecular Genetics,CHU RENNES 0 1 1 0 0 0 2
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 1 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 1 0 0 0 2
The Translational Medicine Center of Children Development and Disease,Fudan University 2 0 0 0 0 0 2
SickKids Clinical Genetics Group,The Hospital for Sick Children 0 0 0 0 0 2 2
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 1 1 0 0 0 2
Medical Genetics,Necip Fazıl Sehir Hastanesi 2 0 0 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 2 0 0 0 0 2
Claritas Genomics 1 0 0 0 0 0 1
PreventionGenetics 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 0 1
Elahi Laboratory, University of Tehran 1 0 0 0 0 0 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 1 1
Genetic Testing Lab, University of Kentucky College of Medicine 1 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 1 0 0 0 0 0 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 1 0 0 0 0 0 1
Glaucoma Genetics Lab,University of Iowa 1 0 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
Agency for Science, Technology and Research,Genome Institute of Singapore 1 0 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 0 1
Erez Levanon lab,Bar Ilan University 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 0 1
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Hereditary Research Laboratory,Bethlehem University 1 0 0 0 0 0 1
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Department of Ophthalmology,Flinders Medical Centre 1 0 0 0 0 0 1
Medical Genetic Institute of Henan Province,Henan Provincial People’s Hospital 1 0 0 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 1 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 1
Biochimie Génétique et moléculaire,CHUGA 1 0 0 0 0 0 1
Hereditary Hearing Loss Research Unit,University of Madras 1 0 0 0 0 0 1
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron 1 0 0 0 0 0 1
Biocant - Biotechnology Innovation Center 1 0 0 0 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 1
Zheng Lab,Zhongnan Hospital of Wuhan University 1 0 0 0 0 0 1
Noncommunicable Diseases Research Center,Fasa University of Medical Sciences 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Fundació de Recerca de l'Institut de Microcirurgia Ocular 1 0 0 0 0 0 1
Pediatric Nephrology (Iijima Lab),Kobe University Graduate School of Medicine 1 0 0 0 0 0 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 1 0 0 0 0 0 1
Laboratory of Molecular Pathology,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1 0 0 0 0 0 1
Fukami Lab, Dept of Molecular Endocrinology,National Research Institute for Child Health and Development 1 0 0 0 0 0 1
Lilac Insights Pvt. Ltd. 0 0 1 0 0 0 1
Schule lab,Hertie Institute for Clinical Brain Research 1 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 1 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 0 1 0 0 0 0 1
InterGenetics 1 0 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 1 0 0 0 0 0 1
Genetics Molecular Biology Lab,Hospital Juan P Garrahan 0 0 1 0 0 0 1
DNA Laboratuvarlari GHTM 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 1
Department of Pediatrics and Developmental Biology,Tokyo Medical and Dental University 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 0 1
Division of Critical Care, Department of Pediatrics,Cardinal Glennon Children's Hospital 1 0 0 0 0 0 1
Genetic Outpatient Clinic,Children's Memorial Health Institute 0 1 0 0 0 0 1
Genetics,Children's Hospital New Orleans 0 0 1 0 0 0 1

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