ClinVar Miner

Variants studied for X-linked disease

Included ClinVar conditions (290):
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
4756 1073 3955 1138 1625 2 83 12234

Gene and significance breakdown #

Total genes and gene combinations: 290
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
COL4A5 815 102 44 9 23 0 1 973
MECP2 409 37 156 15 17 0 1 603
FLNA 43 12 302 115 123 0 1 592
F8 293 30 45 20 26 0 0 405
ABCD1 112 60 163 38 50 0 0 392
CDKL5 201 48 87 28 26 0 1 375
PCDH19 100 37 171 40 17 0 0 358
ATRX 31 14 156 60 81 0 2 336
ATP7A 93 23 114 50 54 0 0 321
COL4A4 1 2 206 47 52 0 0 294
LAMP2 42 9 108 25 61 0 0 238
MTM1 140 33 42 9 22 0 0 238
COL4A3, MFF-DT 4 3 150 18 52 0 0 219
MED12 11 7 119 44 38 0 0 218
OFD1 130 10 37 4 29 0 0 208
IQSEC2 45 13 85 37 28 0 1 204
SLC6A8 36 5 47 41 53 0 9 184
FOXG1 53 27 47 43 15 0 1 178
OTC 81 32 44 9 16 0 0 173
EDA 96 28 31 5 11 0 0 162
DLD 21 32 68 34 28 0 0 159
XIAP 27 1 66 6 59 0 0 157
PHEX 100 17 17 5 10 0 0 145
WAS 58 9 38 9 19 0 0 131
PDHA1 50 14 29 13 28 0 0 127
BCOR 29 5 36 14 40 0 0 123
EMD 36 2 51 24 8 0 0 121
BRWD3 5 2 60 5 46 0 0 117
ARX 28 4 54 19 11 0 0 113
SYN1 7 6 53 24 9 0 0 96
LIAS 10 4 66 9 6 0 0 94
PHEX, PTCHD1 57 17 8 3 7 0 0 91
PDHX 11 3 37 8 31 0 1 89
ARHGEF9 10 6 42 22 3 0 0 83
ACD 2 1 65 6 10 0 0 82
IDS, LOC106050102 38 11 6 7 25 0 0 82
NEXMIF 35 4 35 4 4 0 1 82
OCRL 26 7 10 2 6 0 32 81
HCFC1 6 0 30 16 29 0 0 80
NR0B1 70 5 5 0 3 0 0 80
GJB1 50 10 11 2 6 0 0 78
SLC9A6 16 5 34 10 14 0 0 77
IDS 39 6 10 9 14 0 0 76
AVPR2 25 3 14 6 26 0 1 75
HPRT1 63 6 4 1 0 0 0 73
PDHB 11 0 41 12 13 0 0 72
CD40LG 32 10 16 2 13 0 0 71
RPS6KA3 38 14 15 2 4 0 0 70
CDKL5, RS1 18 10 24 9 11 0 0 69
TRAPPC2 15 1 30 6 18 0 0 69
DDX3X 41 20 4 1 0 0 0 62
CASK 39 17 5 1 1 0 0 61
WIPF1 2 0 35 14 10 0 0 61
SH2D1A 18 4 22 2 14 0 0 59
NHS 24 2 4 7 21 0 0 58
SRPX2 2 1 38 12 7 0 0 57
CHM 30 4 12 5 5 0 0 55
DKC1 45 4 1 3 0 0 23 54
FANCB 0 0 21 11 21 0 0 51
PRPS1 21 3 17 3 8 0 0 51
DCLRE1B 0 0 45 2 3 0 0 50
HUWE1 13 18 16 2 1 0 1 46
ZDHHC9 6 3 19 10 7 0 0 44
ALAS2 18 0 10 3 13 0 0 42
ARX, LOC109610631 8 1 19 12 3 0 1 42
SLC16A2 29 7 4 0 2 0 0 41
ARSL 14 2 8 1 18 0 0 40
ZNF711 4 2 19 2 13 0 0 40
KDM5C 20 12 6 0 0 0 2 39
TAF1 6 12 16 6 0 0 0 39
IL1RAPL1 6 0 16 0 16 0 0 38
NYX 6 1 17 8 6 0 0 38
RAB39B 5 0 22 0 10 0 0 37
L1CAM 23 8 5 0 0 0 0 36
PAK3 5 4 13 1 13 0 0 35
PLP1, RAB9B 23 7 4 0 1 0 0 35
PDK3 1 0 23 5 5 0 0 34
POU3F4 18 0 7 2 6 0 1 33
FGD1 20 4 8 2 0 0 0 32
EFNB1 16 12 2 0 1 0 0 30
MAP3K15, PDHA1 0 0 11 1 18 0 0 30
CACNA1F 15 6 6 2 0 0 0 29
CUL4B 9 5 11 1 4 0 0 29
DLAT 4 1 9 10 7 0 0 29
MID1 17 8 4 0 1 0 0 29
PHF6 17 3 4 0 5 0 0 29
FLNA, LOC107988032 3 1 18 1 5 0 0 28
PQBP1 10 3 9 1 7 0 0 28
ZIC3 2 0 18 2 7 0 0 28
ATP6AP2 4 0 16 1 6 0 0 27
THOC2 6 6 16 0 0 0 0 27
USP9X 12 3 10 0 0 0 1 26
AIFM1, RAB33A 9 15 3 1 1 0 0 25
DCX 19 6 1 1 0 0 0 25
NAA10 16 9 3 0 0 0 0 24
NDP 21 3 0 0 0 0 0 24
ZC4H2 16 5 3 0 0 0 1 24
LAS1L 2 1 15 3 2 0 0 23
F9 10 10 1 0 0 0 0 21
GJB2 16 2 3 0 0 0 0 21
PGK1 14 1 5 1 0 0 0 20
GRIA3 6 1 7 3 2 0 0 19
SLC25A38 0 0 14 4 1 0 0 19
OPHN1 8 2 7 1 0 0 0 18
ABCB7 4 1 9 0 3 0 0 17
CLCN4 7 7 3 0 0 0 0 17
NSDHL 12 4 0 0 1 0 0 17
FMR1 7 0 0 2 5 2 0 16
MAOA 4 1 4 3 4 0 0 16
SMPX 6 2 7 0 1 0 0 16
SMS 10 2 3 1 0 0 0 16
HSD17B10 9 3 3 0 0 0 0 15
PTEN 4 1 10 0 0 0 0 15
UPF3B 7 1 3 1 3 0 0 15
GPC3 10 3 1 0 0 0 0 14
PORCN 9 4 1 0 0 0 0 14
UBE2A 5 5 4 0 0 0 0 14
APIP, PDHX 0 0 5 2 6 0 0 13
GPR143 11 1 0 1 0 0 0 13
TIMM8A 11 1 0 0 1 0 0 13
AFF2 3 0 7 2 0 0 0 12
COL4A3 1 0 9 0 2 0 0 12
PHF8 6 2 2 1 0 0 1 12
AP1S2 10 1 0 0 0 0 0 11
ARHGEF6 1 0 4 6 0 0 0 11
DLG3 6 1 3 1 0 0 0 11
IGSF1 8 0 0 0 3 0 0 11
OGT 7 1 3 0 0 0 0 11
SHROOM4 2 0 6 4 0 0 0 11
ATP2B3 1 0 2 1 6 0 0 10
CLASP1, RNU4ATAC 7 6 0 0 0 0 0 10
LIAS, LOC112939935 0 0 8 2 0 0 0 10
NONO 8 2 0 0 0 0 0 10
ACSL4 3 1 4 1 0 0 0 9
FRMPD4 4 1 4 0 0 0 0 9
IKBKG 9 0 0 0 0 0 0 9
MBTPS2 6 0 3 0 0 0 0 9
RLIM 7 2 1 0 0 0 0 9
STS 7 0 2 0 0 0 0 9
GDI1 6 1 1 0 0 0 0 8
PDP1 3 0 4 0 1 0 0 8
POF1B, ZNF711 0 0 0 4 6 0 0 8
RPGR 6 2 0 0 0 0 0 8
CNKSR2 3 0 4 0 0 0 0 7
MSL3 6 1 0 0 0 0 0 7
EIF2S3 4 2 1 0 0 0 0 6
FTSJ1 5 0 1 0 0 0 0 6
HCCS 4 1 1 0 0 0 0 6
HNRNPH2, RPL36A-HNRNPH2 3 4 0 0 0 0 0 6
MAP3K7 4 1 1 0 0 0 0 6
POLA1 5 1 0 0 0 0 0 6
RPL10 3 1 3 0 0 0 0 6
FAM50A 5 0 0 0 0 0 0 5
NKAP 5 0 0 0 0 0 0 5
RS1 2 0 1 0 2 0 0 5
SYP 4 0 1 0 0 0 0 5
ZNF81 0 0 5 0 0 0 0 5
​intergenic 0 2 0 0 1 0 1 4
AMMECR1 3 1 0 0 0 0 0 4
COL4A5, COL4A6 3 1 0 0 0 0 0 4
COX7B 3 0 1 0 0 0 0 4
EMD, FLNA 0 0 4 0 0 0 0 4
HPRT1, LOC107032760 4 0 0 0 0 0 0 4
KLHL15 2 0 2 0 0 0 0 4
KLLN, PTEN 0 0 4 0 0 0 0 4
L1CAM, LCA10 0 0 0 1 3 0 0 4
STAG2 4 0 0 0 0 0 0 4
ALAS2, LOC108663984 0 0 1 0 2 0 0 3
AOPEP, FANCC 0 0 1 2 0 0 0 3
CLCN5 2 0 1 0 0 0 0 3
CYB5R3 2 1 0 0 0 0 0 3
DNASE1L1, EMD, FLNA, RPL10, TAZ 0 0 3 0 0 0 0 3
KIF4A 1 2 0 0 0 0 0 3
LINC00630, RAB40AL 0 0 2 0 1 0 0 3
LOC101928335, MID2 2 1 0 0 0 0 0 3
NDUFB11 2 0 1 0 0 0 0 3
OPN1LW 3 0 0 0 0 0 0 3
PCDH19, SRPX2, TNMD, TSPAN6 2 0 1 0 0 0 0 3
SOX3 1 1 1 0 0 0 0 3
SREBF1 3 0 0 0 0 0 0 3
TSPAN7 3 0 1 1 0 0 0 3
USP27X 2 0 1 0 0 0 0 3
WDR45 2 0 1 0 0 0 0 3
ABCD1, ARHGAP4, AVPR2, DNASE1L1, EMD, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, RPL10, SRPK3, SSR4, TAZ, TEX28, TKTL1, TMEM187 1 0 1 0 0 0 0 2
ALAS2, LOC108663984, PAGE2B 0 0 1 1 0 0 0 2
ARHGEF6, CD40LG, GPR101, RBMX, VGLL1 2 1 0 0 0 0 0 2
ATP7A, PGAM4 0 0 0 1 1 0 0 2
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 1 0 0 0 0 2
BGN 2 0 0 0 0 0 0 2
CBLL2, PHEX, PTCHD1 2 0 0 0 0 0 0 2
COL4A6 1 0 0 1 0 0 0 2
DLAT, PIH1D2 1 0 1 0 0 0 0 2
DNM2 2 0 0 0 0 0 0 2
FGD1, TSR2 0 1 1 0 0 0 0 2
FMR1, FRAXA, LOC107032825 2 0 0 0 0 0 0 2
GJB6 1 0 1 0 0 0 0 2
GJC2 0 1 1 0 0 0 0 2
HDAC6 1 0 1 0 0 0 0 2
IRAK1, MECP2, MIR718 2 0 0 0 0 0 0 2
LOC119369039, MIR4769, SYN1, TIMP1 0 0 2 0 0 0 0 2
MID2 0 0 2 0 0 0 0 2
NLGN4X 2 0 0 0 0 0 0 2
OPN1MW 2 0 0 0 0 0 0 2
PLP1 2 0 0 0 0 0 0 2
PNPLA4, PUDP, STS, VCX 2 0 0 0 0 0 0 2
PTCHD1 1 1 0 0 0 0 0 2
RBMX 1 0 1 0 0 0 0 2
STEEP1 2 0 0 0 0 0 0 2
ZNF41 0 0 2 0 0 0 0 2
ZNF674 0 0 1 0 1 0 0 2
ABCB7, ABCD1, ACE2, ACOT9, ACSL4, ACTRT1, ADGRG2, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, AKAP4, ALAS2, ALG13, AMER1, AMMECR1, AMOT, AP1S2, APEX2, APLN, APOO, APOOL, AR, ARAF, ARHGAP36, ARHGAP4, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ARX, ASB11, ASB12, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP2, ATP7A, ATRX, AVPR2, AWAT1, AWAT2, BCAP31, BCLAF3, BCOR, BCORL1, BEND2, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BHLHB9, BMP15, BMX, BRS3, BRWD3, BTK, C1GALT1C1, CA5B, CACNA1F, CAPN6, CASK, CBLL2, CCDC120, CCDC160, CCDC22, CCNB3, CCNQ, CD40LG, CD99L2, CDK16, CDKL5, CDR1, CDX4, CENPI, CETN2, CFAP47, CFP, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN5, CLDN2, CLTRN, CNGA2, CNKSR2, COL4A5, COL4A6, COX7B, CPXCR1, CSAG1, CSAG3, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CTPS2, CUL4B, CXCR3, CXorf22, CXorf30, CXorf38, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf58, CXorf65, CXorf66, CYBB, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCAF8L1, DCAF8L2, DCX, DDX3X, DDX53, DGAT2L6, DGKK, DIAPH2, DIPK2B, DLG3, DMD, DMRTC1, DMRTC1B, DNAAF6, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, ENOX2, EOLA1, EOLA2, ERAS, ERCC6L, ESX1, F9, FAAH2, FAM104B, FAM120C, FAM133A, FAM155B, FAM156A, FAM156B, FAM199X, FAM47A, FAM47B, FAM47C, FATE1, FGD1, FGF13, FGF16, FHL1, FMR1, FMR1NB, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FTHL17, FTSJ1, FTX, FUNDC1, GABRA3, GABRE, GABRQ, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, GDPD2, GJB1, GK, GLA, GLOD5, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPR101, GPR119, GPR173, GPR174, GPR34, GPR50, GPR82, GPRASP1, GPRASP2, GRIA3, GRIPAP1, GRPR, GSPT2, GUCY2F, H2AP, H2BW1, H2BW2, HAUS7, HCFC1, HDAC6, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HSFX1, HSFX2, HTATSF1, HTR2C, HUWE1, IDH3G, IDS, IGBP1, IGSF1, IL13RA1, IL13RA2, IL1RAPL1, IL1RAPL2, IL2RG, INE1, INE2, INTS6L, IQSEC2, IRAK1, IRS4, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL15, KLHL34, KLHL4, KRBOX4, L1CAM, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC01560, LOC100509091, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAMLD1, MAOA, MAOB, MAP3K15, MAP7D2, MAP7D3, MBNL3, MBTPS2, MCF2, MCTS1, MECP2, MED12, MED14, MID1IP1, MID2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR424, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MIR532, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MPC1L, MSN, MTM1, MTMR1, MTMR8, MTRNR2L10, NAA10, NAP1L2, NAP1L3, NDP, NDUFA1, NDUFB11, NEXMIF, NHS, NHSL2, NKAP, NKRF, NLGN3, NONO, NOX1, NR0B1, NRK, NSDHL, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, NYX, OCRL, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PAK3, PASD1, PBDC1, PCDH11X, PCDH19, PCSK1N, PCYT1B, PDHA1, PDK3, PDZD11, PDZD4, PFKFB1, PGAM4, PGK1, PGRMC1, PHEX, PHF6, PHF8, PHKA1, PHKA2, PIGA, PIM2, PIN4, PIR, PJA1, PLAC1, PLP1, PLP2, PLS3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, POF1B, POLA1, PORCN, POU3F4, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRPS1, PRR32, PRRG1, PRRG3, PSMD10, PTCHD1, PWWP3B, RAB33A, RAB40A, RAB40AL, RAB41, RAB9B, RADX, RAI2, RAP2C, RBBP7, RBM10, RBM3, RBM41, RBMX, RBMX2, RBMXL3, RENBP, REPS2, RGN, RHOXF1, RHOXF2, RHOXF2B, RIBC1, RIPPLY1, RLIM, RNF113A, RNF128, RP2, RPA4, RPGR, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RPS6KA3, RPS6KA6, RRAGB, RS1, RTL3, RTL4, RTL5, RTL8A, RTL8B, RTL8C, RTL9, S100G, SAGE1, SASH3, SAT1, SATL1, SCML1, SCML2, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SH3KBP1, SHROOM4, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC35A2, SLC38A5, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLC9A7, SLITRK2, SLITRK4, SMARCA1, SMC1A, SMIM10, SMPX, SMS, SNORA11, SNX12, SOWAHD, SOX3, SPACA5, SPACA5B, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPK3, SRPX, SRPX2, SSR4, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STARD8, STEEP1, STK26, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL4, SYTL5, TAB3, TAF1, TAF7L, TAF9B, TASL, TBC1D25, TBC1D8B, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TKTL1, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMEM47, TMSB15A, TMSB15B, TNMD, TREX2, TRMT2B, TRO, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, UBE2A, UBE2NL, UBQLN2, UPF3B, UPRT, USP11, USP26, USP27X, USP51, USP9X, UTP14A, UXT, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WDR13, WDR44, WDR45, WNK3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZFP92, ZFX, ZIC3, ZMAT1, ZMYM3, ZNF157, ZNF182, ZNF185, ZNF275, ZNF280C, ZNF41, ZNF449, ZNF630, ZNF674, ZNF711, ZNF75D, ZNF81, ZRSR2, ZXDA, ZXDB 1 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, F8, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, MPP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAZ, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 0 1
ABCD1, BCAP31, IDH3G, L1CAM, PDZD4, PLXNB3, SLC6A8, SRPK3, SSR4 0 0 1 0 0 0 0 1
ABCD1, BCAP31, PLXNB3 1 0 0 0 0 0 0 1
ABCD1, BCAP31, SLC6A8 1 0 0 0 0 0 0 1
ACTRT1, DCAF12L1, LOC113875008, OCRL, PRR32, SMARCA1 1 0 0 0 0 0 0 1
ADGB, GRM1, LOC101928661, LOC114004398, RAB32 1 0 0 0 0 0 0 1
ADGRG2, CDKL5, PDHA1, PHKA2, PPEF1, RS1 1 0 0 0 0 0 0 1
AFF2, FRAXE 1 0 0 0 0 0 0 1
AGTR2 0 0 0 1 0 0 0 1
AKAP14, ATP1B4, LAMP2, NDUFA1, NKAP, RHOXF1, RHOXF2, RHOXF2B, RNF113A, TMEM255A, UPF3B, ZBTB33 0 0 1 0 0 0 0 1
ALAS2, APEX2 0 0 0 0 1 0 0 1
ALAS2, PAGE2B 1 0 0 0 0 0 0 1
AMMECR1, RTL9 1 0 0 0 0 0 0 1
AMMECR1, TMEM164 0 0 1 0 0 0 0 1
APLN, OCRL, SASH3, XPNPEP2, ZDHHC9 0 0 1 0 0 0 0 1
ARHGAP4, AVPR2, EMD, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 0 1
ARHGAP4, EMD, FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 0 1
ARHGEF6, BRS3, CD40LG, GPR101, HTATSF1, RBMX, VGLL1 0 1 0 0 0 0 0 1
ARMCX5-GPRASP2, GPRASP2 1 0 0 0 0 0 0 1
ARSJ, FOXG1 1 0 0 0 0 0 0 1
ARX, LOC110120595, LOC110120597, POLA1 0 0 1 0 0 0 0 1
ATG4A, COL4A5, COL4A6 0 1 0 0 0 0 0 1
ATP11C 1 1 0 0 0 0 0 1
ATP6AP2, BCOR, CASK, CXorf38, DDX3X, GPR34, GPR82, MED14, MPC1L, NYX, USP9X 0 0 1 0 0 0 0 1
ATP6AP2, BCOR, CFAP47, CXorf22, CXorf30, CXorf38, CYBB, DMD, DYNLT3, FAM47A, FAM47B, FAM47C, FTHL17, GK, H2AP, LANCL3, MAGEB16, MED14, MID1IP1, MPC1L, NR0B1, OTC, PRRG1, RPGR, SRPX, SYTL5, TAB3, TASL, TMEM47, TSPAN7, USP9X, XK 1 0 0 0 0 0 0 1
ATR 0 0 1 0 0 0 0 1
CD99L2, GPR50, HMGB3, MTM1, MTMR1, VMA21 0 0 1 0 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 0 1
CLIC2 1 0 0 0 0 0 0 1
CLIC2, RAB39B 1 0 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 0 1
DMD, FTHL17, GK, IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR3915, MIR4666B, MIR6134, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 1
DMD, FTHL17, GK, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 1
EDA2R 0 0 1 0 0 0 0 1
ELANE 1 0 0 0 0 0 0 1
EPM2A 0 1 0 0 0 0 0 1
EPOR 0 0 0 0 1 0 0 1
F8, F8A1, LOC106146150 0 0 0 1 0 0 0 1
F8, FUNDC2 1 0 0 0 0 0 0 1
FANCL 1 0 0 0 0 0 0 1
FOXG1, WDFY1 1 0 0 0 0 0 0 1
FRMD7, GPC3, GPC4, HS6ST2, IGSF1, MBNL3, OR13H1, RAP2C, STK26, TFDP3, USP26 1 0 0 0 0 0 0 1
FZD4, PRSS23 1 0 0 0 0 0 0 1
G6PD 0 0 1 0 0 0 0 1
G6PD, IKBKG 0 0 1 0 0 0 0 1
GABBR2 1 0 0 0 0 0 0 1
GJB1, MED12, NLGN3 0 0 1 0 0 0 0 1
GOSR2, LRRC37A2 0 0 0 0 1 0 0 1
HMGB3 1 0 0 0 0 0 0 1
HNRNPH1 0 1 0 0 0 0 0 1
HS6ST2 1 0 0 0 0 0 0 1
IGBP1 1 0 0 0 0 0 0 1
IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR4666B, NR0B1, TASL 1 0 0 0 0 0 0 1
IL1RAPL1, ZNF611 1 0 0 0 0 0 0 1
IQSEC2, SMC1A 0 0 1 0 0 0 0 1
LIAS, LOC111365176, LOC112939935, RPL9, UGDH 0 0 1 0 0 0 0 1
LMAN1 0 0 1 0 0 0 0 1
LOC106029240, LOC106029241, LOC113875037, MIR4767, MIR651, PNPLA4, PUDP, STS, VCX, VCX2, VCX3A 1 0 0 0 0 0 0 1
LOC106029240, LOC113875037, MIR4767, PUDP, STS, VCX3A 1 0 0 0 0 0 0 1
LOC106029241, LOC113875037, MIR4767, MIR651, PNPLA4, PUDP, STS, VCX, VCX2 1 0 0 0 0 0 0 1
LOC108281134, SOX3 0 0 0 1 0 0 0 1
LOC108410393, NR0B1 1 0 0 0 0 0 0 1
LOC113875037, MIR4767, PNPLA4, PUDP, STS, VCX 1 0 0 0 0 0 0 1
MSR1 0 0 0 1 0 0 0 1
NPHP1 0 0 0 0 1 0 0 1
NTF4 0 0 0 1 0 0 0 1
OPN1LW, OPN1MW, OPSIN-LCR 1 0 0 0 0 0 0 1
PRICKLE2 0 0 1 0 0 0 0 1
PRPH2 1 0 0 0 0 0 0 1
PUDP, STS 1 0 0 0 0 0 0 1
RAD51C 1 0 0 0 0 0 0 1
RHOBTB2 0 1 0 0 0 0 0 1
SALL1 0 0 1 0 0 0 0 1
SERPINA1 1 0 0 0 0 0 0 1
SIL1 0 0 0 0 1 0 0 1
SLC9A7 1 1 0 0 0 0 0 1
TMEM17 0 0 1 0 0 0 0 1
TSPAN12 1 0 0 0 0 0 0 1
ZDHHC15 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 259
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 711 126 2155 787 898 0 0 4677
Illumina Clinical Services Laboratory,Illumina 7 5 933 174 582 0 0 1689
OMIM 1510 0 5 0 0 0 0 1515
Research and Development, ARUP Laboratories 739 3 13 4 19 0 0 778
RettBASE 458 15 148 1 0 0 0 622
Genetic Services Laboratory,University of Chicago 341 62 37 0 0 0 0 440
Natera, Inc. 12 3 148 77 121 0 0 361
Mendelics 127 79 44 35 46 0 0 331
GeneReviews 260 0 0 0 15 0 0 275
Institute of Human Genetics,Klinikum rechts der Isar 210 25 1 0 0 0 0 236
Institute of Human Genetics, University of Leipzig Medical Center 50 35 68 9 1 0 0 163
Centre for Mendelian Genomics,University Medical Centre Ljubljana 20 31 82 6 4 0 0 143
Fulgent Genetics,Fulgent Genetics 49 7 81 0 0 0 0 137
Integrated Genetics/Laboratory Corporation of America 49 49 7 3 6 0 0 114
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 29 18 13 3 46 0 0 109
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 42 37 20 1 0 0 0 100
Genomic Research Center, Shahid Beheshti University of Medical Sciences 21 15 49 3 0 0 0 88
Baylor Genetics 50 11 21 0 0 0 0 82
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 5 37 28 0 0 71
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 51 18 0 0 0 0 0 69
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 21 35 1 5 0 0 0 62
Center for Human Genetics, Inc,Center for Human Genetics, Inc 23 17 17 4 0 0 0 61
UniProtKB/Swiss-Prot 0 0 0 0 0 0 54 54
Génétique des Maladies du Développement, Hospices Civils de Lyon 26 17 6 1 0 0 0 50
Counsyl 7 31 7 0 0 0 0 45
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 18 8 15 3 0 0 0 44
Myriad Women's Health, Inc. 3 40 0 0 0 0 0 43
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 36 0 2 1 1 0 0 40
Johns Hopkins Genomics,Johns Hopkins University 17 8 11 2 0 0 0 38
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 31 0 0 0 1 0 0 32
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 11 21 0 0 0 0 0 32
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 16 7 5 2 1 0 0 31
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 27 4 0 0 0 0 0 31
Broad Institute Rare Disease Group,Broad Institute 5 11 6 2 6 0 0 30
Service de Génétique Moléculaire,Hôpital Robert Debré 5 12 10 2 0 0 0 29
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 17 11 0 0 0 0 0 28
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 5 12 11 0 0 0 0 28
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 20 3 5 0 0 0 0 28
NIHR Bioresource Rare Diseases, University of Cambridge 10 15 1 1 0 0 0 27
Genome Medicine,Institute for Basic Research in Developmental Disabilities 0 11 10 6 0 0 0 27
Molecular Genetics laboratory,Necker Hospital 24 0 0 0 0 0 0 24
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 16 1 1 1 4 0 0 23
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 4 4 15 0 0 0 0 23
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 16 5 2 0 0 0 0 23
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 13 7 2 0 0 0 0 22
Center of Genomic medicine, Geneva,University Hospital of Geneva 17 3 2 0 0 0 0 22
Undiagnosed Diseases Network,NIH 13 7 1 0 0 0 0 21
GOLD service, Hunter New England Health 4 3 13 0 0 0 0 20
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 17 3 0 0 0 0 20
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 4 14 0 0 1 0 0 19
GenomeConnect, ClinGen 0 0 0 0 0 0 18 18
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 10 7 0 0 0 0 0 17
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 7 2 0 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 2 12 0 0 0 0 17
Deafness Gene Diagnosis,Xijing Hospital 0 14 0 1 0 0 0 15
Neurogenetics Research Program, University of Adelaide 3 10 1 0 1 0 0 15
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 9 4 2 0 0 0 0 15
Athena Diagnostics Inc 10 0 0 0 4 0 0 14
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 11 3 0 0 0 0 0 14
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 7 1 0 0 0 0 13
Centogene AG - the Rare Disease Company 5 7 0 0 0 0 0 12
Genomic Medicine Lab, University of California San Francisco 6 2 4 0 0 0 0 12
Medical Genetics, University of Parma 2 7 2 0 0 0 0 11
SIB Swiss Institute of Bioinformatics 1 6 3 0 1 0 0 11
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 2 6 3 0 0 0 0 11
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 7 3 0 0 0 0 11
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 7 4 0 0 0 0 0 11
Molecular Genetics Laboratory,Institute for Ophthalmic Research 10 0 0 0 0 0 0 10
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 3 3 1 2 1 0 0 10
UCLA Clinical Genomics Center, UCLA 2 8 0 0 0 0 0 10
MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA 7 3 0 0 0 0 0 10
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 4 0 0 0 0 0 10
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 2 6 0 0 0 0 10
Leiden Open Variation Database 1 0 1 8 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 3 1 0 0 0 0 10
GenomeConnect-Association for Creatine Deficiencies 0 0 0 0 0 0 10 10
Institute of Human Genetics,Cologne University 4 4 1 0 0 0 0 9
Blueprint Genetics 1 8 0 0 0 0 0 9
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 6 1 2 0 0 0 0 9
Dobyns Lab,Seattle Children's Research Institute 7 2 0 0 0 0 0 9
Center for Human Genetics,University of Leuven 5 4 0 0 0 0 0 9
Sharon lab,Hadassah-Hebrew University Medical Center 7 2 0 0 0 0 0 9
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 2 2 0 0 0 0 8
Genetic Diagnostic Laboratory,University of Szeged 7 1 0 0 0 0 0 8
Daryl Scott Lab,Baylor College of Medicine 5 2 1 0 0 0 0 8
Clinical Genomics Program,Stanford Medicine 2 3 3 0 0 0 0 8
Laboratory of Genetics in Ophthalmology,Institut Imagine 4 4 0 0 0 0 0 8
Clinical Genetics laboratory, University of Goettingen 0 3 4 0 0 0 0 7
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 3 2 0 0 0 0 7
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 6 0 0 0 0 7
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 7 0 0 0 0 0 0 7
Department of Genetics,Sultan Qaboos University Hospital, Oman 4 0 3 0 0 0 0 7
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 6 0 0 0 0 7
Medical Molecular Genetics Department, National Research Center 6 0 0 0 0 0 0 6
Ege University Pediatric Genetics,Ege University 3 1 2 0 0 0 0 6
Genetics Division,Universidade Federal de Sao Paulo 5 1 0 0 0 0 0 6
Caldovic Lab,Children's National Health System 0 6 0 0 0 0 0 6
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 0 2 4 0 0 0 0 6
Biochemistry Laboratory of CDMU,Chengde Medical University 3 3 0 0 0 0 0 6
Daan van Aalten Lab,University of Dundee 5 0 1 0 0 0 0 6
GenomeConnect - Simons Searchlight 2 4 0 0 0 0 0 6
Elsea Laboratory,Baylor College of Medicine 2 2 0 1 0 0 0 5
Department of Medical Genetics, Oslo University Hospital 0 5 0 0 0 0 0 5
TIDEX, University of British Columbia 3 1 1 0 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 3 2 0 0 0 0 5
GeneDx 1 0 1 0 2 0 0 4
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 1 2 0 4
Northcott Neuroscience Laboratory, ANZAC Research Institute 4 0 0 0 0 0 0 4
Institute of Human Genetics, Uniklinik RWTH Aachen 0 3 1 0 0 0 0 4
Department of Biochemistry,Quaid-i-Azam University 4 0 0 0 0 0 0 4
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 4 0 0 0 0 0 4
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 3 0 0 0 0 0 4
Laboratory for Cytogenetics and Genome Research,KU Leuven 4 0 0 0 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 1 0 0 4
San Raffaele Telethon Institute for Gene Therapy,San Raffaele Hospital 4 0 0 0 0 0 0 4
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 1 2 0 0 0 0 4
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 4 0 0 0 0 0 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 3 0 0 0 0 0 3
Claritas Genomics 3 0 0 0 0 0 0 3
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 2 0 0 0 0 3
Molecular Genetics and RNA Biology,University of Milan 3 0 0 0 0 0 0 3
Clinical Genetics Laboratory of Dermatology,Peking University First Hospital 3 0 0 0 0 0 0 3
Molecular Medicine Center, Medical University of Sofia 2 1 0 0 0 0 0 3
Institute of Cellular and Molecular Medicine,Copenhagen University 3 0 0 0 0 0 0 3
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 3 0 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 1 1 1 0 0 0 0 3
Breda Genetics srl 1 2 0 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 3 0 0 0 0 0 0 3
Codex Genetics Limited 2 1 0 0 0 0 0 3
Institute for Human Genetics,University Clinic Freiburg 1 0 1 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 0 0 0 2
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 2 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 2 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 0 2
Elsea Lab, Dept of Molecular and Human Genetics,Baylor College of Medicine 2 0 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 1 0 0 0 0 2
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 0 0 0 0 2 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 2 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 1 0 0 0 0 2
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 1 0 1 0 0 0 0 2
GenePathDx,Causeway Health Care Private Ltd 2 0 0 0 0 0 0 2
Institute of Experimental Endocrinology,Slovak Academy of Sciences 1 0 1 0 0 0 0 2
Human Genetics Unit,University of Colombo 0 2 0 0 0 0 0 2
Molecular Genetics and Enzymology,National Research Centre 2 0 0 0 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 1 1 0 0 0 0 0 2
Laboratory of Genetic Skeletal Anomaly,Seoul National University Children's Hospital 2 0 0 0 0 0 0 2
Embryology Laboratory,Victor Chang Cardiac Research Institute 2 0 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 Clinical Laboratory Science,Nanjing University Affiliated Jinling Hospital 2 0 0 0 0 0 0 2
Research Laboratory of Human Genome and Multifactorial Diseases,Faculty of Pharmacy, University of Monastir 2 0 0 0 0 0 0 2
MNM Diagnostics 2 0 0 0 0 0 0 2
UF de génétique clinique,APHP Hôpital Armand Trousseau 0 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 0 0 1
Center for Human Genetics Laboratory,University Hospitals - University Hospitals Laboratory Service Foundation 1 0 0 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 1 0 0 0 0 0 1
Keegan Laboratory,University of Michigan 0 0 1 0 0 0 0 1
Versiti Diagnostic Laboratories,Versiti, Inc 0 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 1 0 0 0 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 0 0 1
Neurogenetics Research; Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 0 0 0 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Centre for Genetic Disorders, Banaras Hindu University 1 0 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 0 1
Section on Translational Neuroscience,Molecular Medicine Program; NICHD; National Institutes of Health 0 0 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 0 1
Department of Clinical Science, University of Bergen 0 1 0 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 1 0 0 0 0 0 1
Faculty of Medicine, Iran University of Medical Sciences (IUMS) 1 0 0 0 0 0 0 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 1 0 0 0 0 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 1 0 0 0 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 0 0 1
Laboratory of Human Genetics,Universidade de São Paulo 1 0 0 0 0 0 0 1
Biochemical and Molecular Genetics Department, Hospital Clinic of Barcelona 1 0 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 1 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 1 0 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 0 0 0 0 1
Erez Levanon lab,Bar Ilan University 1 0 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 0 0 1
Choi Lab,Seoul National University 1 0 0 0 0 0 0 1
emedgene Technologies 1 0 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 1
University of Bologna, Medical Genetics Unit,University of Bologna 1 0 0 0 0 0 0 1
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 0 0 1
Hereditary Research Laboratory,Bethlehem University 1 0 0 0 0 0 0 1
Kangwon National University Hospital 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 0 0 1
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 0 1 0 0 0 0 0 1
MIND Institute, Wet lab,University of California Davis 1 0 0 0 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 1 0 0 0 0 0 0 1
Biochimie Génétique et moléculaire, CHUGA 1 0 0 0 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 1 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 0 1
Leeds Institute of Biomedical and Clinical Sciences,University of Leeds 1 0 0 0 0 0 0 1
FAHD UNIT, Department of Genetics,King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 0 1
Hearing and Balance Clinic,First Affliiated Hospital of Kunming Medical University 1 0 0 0 0 0 0 1
Department of Laboratory Medicine,Daejeon St. Mary’s Hospital 1 0 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 1
Department of Immunology,University Hospital Southampton NHSFT 1 0 0 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 0 1 0 0 0 0 1
Pediatric Nephrology (Iijima Lab),Kobe University Graduate School of Medicine 1 0 0 0 0 0 0 1
SBielas Lab, Department of Human Genetics,University of Michigan 0 0 0 1 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 0 1
Hunan Clinical Research Center of Ophthalmic Disease,The Second Xiangya Hospital 1 0 0 0 0 0 0 1
Department of Laboratory Medicine, Kangbuk Samsung Hospital,Sungkyunkwan University School of Medicine 1 0 0 0 0 0 0 1
Dpt. of Clinical Genetics, Molecular Genetics Lab 4062,University Hospital of Copenhagen, Rigshospitalet 0 1 0 0 0 0 0 1
Edmonton Ocular Genetics,Alberta Health Services 1 0 0 0 0 0 0 1
Yong Feng Lab,Central South University 1 0 0 0 0 0 0 1
Degerman lab,Umeå University 1 0 0 0 0 0 0 1
Inherited Neuropathy Consortium 0 0 1 0 0 0 0 1
Molecular Neuropsychiatry & Development Lab,Centre for Addiction and Mental Health 0 1 0 0 0 0 0 1
Bondeson Group,Uppsala University 1 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 1
Genomics For Life 0 1 0 0 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 0 0 0 0 1
Uitto Lab,Thomas Jefferson 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
Laboratory of Molecular Genetics,Yakut Science Centre of Complex Medical Problems 1 0 0 0 0 0 0 1
Institute of Bioinformatics 0 1 0 0 0 0 0 1
Pediatric Neurology,Northwest Women’s and Children’s Hospital 1 0 0 0 0 0 0 1
Laboratory of Pediatric Immunoinfectivology,Tor Vergata University 1 0 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 1 0 0 0 0 0 0 1
Faculty of Allied and Health Sciences,Imperial College of Business Studies 1 0 0 0 0 0 0 1
Medical Genome Center,National Center of Neurology and Psychiatry 0 1 0 0 0 0 0 1
Center of Human Genetics, Erasme Hospital 1 0 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 0 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 0 1 0 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 0 0 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 0 1 0 0 1
SavaGenome Genetic Health Clinic 1 0 0 0 0 0 0 1
Department of Pediatrics, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology 1 0 0 0 0 0 0 1
Autoinflammatory diseases unit,CHU de Montpellier 0 1 0 0 0 0 0 1
Research Centre for Medical Genetics,Federal State Budgetary Scientific Institution 1 0 0 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 0 1
Genomics, and Precision Dentistry Research Unit, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 1
St George's Genomics Service,St George's University Hospitals NHS FT 1 0 0 0 0 0 0 1
Biological Sciences,International Islamic University, Islamabad 1 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 0 1
Department of Pediatrics,University Hospital Center Zagreb 1 0 0 0 0 0 0 1
Godley laboratory, The University of Chicago 0 1 0 0 0 0 0 1
MAGIC Laboratory,Stellenbosch University 0 1 0 0 0 0 0 1
Arnesen Lab,University of Bergen 0 0 1 0 0 0 0 1
Biotechnology Lab, Dept of Biomolecular Sciences, University of Urbino 1 0 0 0 0 0 0 1
Clinical Genetics,CHU Rennes 1 0 0 0 0 0 0 1
Department of Endocrinology, Metabolism and Genetics,Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University 0 1 0 0 0 0 0 1
Genomic Medicine,Universita Cattolica del Sacro Cuore 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.