ClinVar Miner

Variants studied for X-linked intellectual disability

Included ClinVar conditions (151):
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
1528 842 4902 5544 1764 144 14261

Gene and significance breakdown #

Total genes and gene combinations: 213
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FLNA 82 27 725 1178 446 4 2428
ATRX 57 43 527 1221 252 4 1983
MED12 19 27 454 532 171 52 1209
HCFC1 6 1 117 672 255 0 1037
PCDH19 240 74 409 252 18 4 968
IQSEC2 105 34 316 362 126 2 918
ARX 29 11 173 266 21 1 496
SYN1 43 17 174 172 18 1 413
ARHGEF9 28 13 141 139 29 1 344
RPS6KA3 66 30 49 60 50 1 248
ZDHHC9 8 7 73 85 28 1 196
DDX3X 83 70 24 4 1 18 175
BRWD3 12 12 89 8 50 0 169
UPF3B 11 6 52 66 35 0 167
HUWE1 15 31 109 10 4 2 165
ATP6AP2 5 1 74 61 11 0 149
KDM5C 39 35 49 4 1 8 132
CUL4B 11 13 46 31 27 0 125
ARX, LOC109610631 10 1 44 61 8 1 123
FLNA, LOC107988032 5 2 39 52 26 0 123
LOC125467768, PCDH19 27 2 61 31 1 0 121
USP9X 25 22 62 5 1 4 117
NEXMIF 47 13 46 7 0 3 113
PHF6 25 8 31 26 20 1 109
LAS1L 2 2 48 42 14 0 106
MECP2 45 13 37 15 1 1 102
CASK 53 33 16 3 1 0 101
TAF1 11 24 45 11 1 0 88
SLC16A2 39 27 12 1 2 8 82
CLCN4 14 16 50 4 0 0 81
LOC126863275, MED12 0 2 26 39 7 2 74
OPHN1 17 17 32 5 0 2 73
GRIA3 12 10 32 6 6 1 64
FRMPD4 5 10 41 3 2 0 60
IL1RAPL1 7 8 26 1 16 0 57
ZNF711 5 3 30 2 13 3 55
THOC2 12 9 31 4 4 0 54
PAK3 5 10 25 1 13 0 53
AFF2 4 2 36 3 5 0 50
NAA10 22 17 11 2 0 1 44
PQBP1 15 6 17 1 6 1 43
CNKSR2 15 8 18 1 0 0 40
RAB39B 5 1 24 0 10 0 40
SHROOM4 0 1 31 4 4 0 40
ACSL4 5 6 22 2 2 0 36
CUL4B, LOC113845788 3 1 18 14 2 0 36
PHF8 7 6 21 1 1 1 36
OGT 7 4 24 0 0 1 35
SMS 11 7 12 2 2 6 35
PORCN 17 12 5 0 0 1 34
DLG3 8 5 19 0 1 0 32
HCFC1, LOC130068842 0 0 4 14 12 0 30
NONO 13 8 4 1 0 0 26
KIF4A 5 1 13 1 5 0 25
POLA1 6 1 13 5 0 0 25
RLIM 7 5 13 1 0 0 24
GDI1 7 4 7 2 1 0 21
UBE2A 5 8 7 0 0 0 20
NKAP 6 2 9 0 4 0 19
TFE3 11 5 4 0 0 0 19
EIF2S3 5 4 8 0 1 0 17
SLC9A7 1 1 13 0 3 0 17
AP1S2 12 3 1 0 0 1 16
SYP 4 1 11 0 0 0 16
USP27X 6 4 9 0 0 0 16
STEEP1 3 2 7 0 2 0 14
HNRNPH2, RPL36A-HNRNPH2 4 7 4 0 1 0 13
KLHL15 2 0 10 0 0 0 12
RPL10 3 1 9 0 0 0 12
ARHGEF6 0 0 6 5 0 0 11
FTSJ1 5 0 5 0 0 1 11
HS6ST2 1 0 8 2 0 0 11
LOC121627969, SYN1 0 0 2 8 0 0 10
RBMX 1 1 6 0 1 1 10
ATP6AP2, LOC130068149 0 0 4 5 0 0 9
LOC101928335, MID2 2 3 5 0 0 0 9
TSPAN7 3 0 2 2 2 2 9
GLRA2 5 1 3 0 0 0 8
LOC130068854, MECP2 1 0 5 1 1 0 8
POF1B, ZNF711 0 0 0 4 6 0 8
SLITRK2 6 0 2 0 0 0 8
WNK3 4 0 4 0 0 0 8
ATRX, LOC130068458 0 0 3 4 1 0 7
SOX3 1 1 4 1 0 0 7
ZFX 6 0 1 0 0 0 7
CLIC2 0 0 5 1 0 0 6
LOC130068032, RPS6KA3 0 0 2 3 1 0 6
ZNF81 0 0 6 0 0 0 6
BCOR 0 1 1 3 0 0 5
EMD, FLNA 1 0 4 0 0 0 5
FANCB, GLRA2 1 1 3 0 0 0 5
HUWE1, LOC126863263 0 0 5 0 0 0 5
LOC108281134, SOX3 0 0 2 2 1 0 5
MID2 0 0 4 0 1 0 5
ZMYM3 3 2 1 0 0 0 5
DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN 0 0 4 0 0 0 4
ARX, PCYT1B, PDK3, POLA1 1 0 2 0 0 0 3
ATP7A, ATRX, COX7B, MAGT1, PGAM4 1 0 2 0 0 0 3
BCOR, LOC126863239 0 0 1 2 0 0 3
IGBP1 0 0 3 0 0 0 3
IQSEC2, SMC1A 0 0 2 1 0 0 3
KDM5C, LOC130068308 1 1 1 0 0 0 3
LOC126863330, RBMX 1 0 2 0 0 0 3
LOC130068561, PAK3 0 0 2 0 1 0 3
LOC130068896, RAB39B 0 0 3 0 0 0 3
PCDH19, SRPX2, TNMD, TSPAN6 2 0 1 0 0 0 3
SMARCA1 0 2 1 0 0 0 3
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 1 0 1 0 0 0 2
APLN, OCRL, SASH3, XPNPEP2, ZDHHC9 1 0 1 0 0 0 2
ARHGEF6, LOC130068760 0 0 1 1 0 0 2
ATP6AP2, BCOR, CASK, CXorf38, DDX3X, GPR34, GPR82, MED14, MPC1L, NYX, USP9X 0 0 2 0 0 0 2
HSD17B10, IQSEC2, RIBC1, SMC1A 0 0 2 0 0 0 2
IGBP1, LOC130068396 1 0 1 0 0 0 2
LOC119369039, LOC121627969, LOC125467745, LOC130068224, LOC130068225, MIR4769, SYN1, TIMP1 0 0 2 0 0 0 2
LOC130068256, PQBP1 0 1 0 0 1 0 2
NLGN4X 2 0 0 0 0 0 2
PTCHD1 1 1 0 0 0 0 2
ZDHHC15 1 0 1 0 0 0 2
ZNF41 0 0 2 0 0 0 2
ZNF674 0 0 1 0 1 0 2
​intergenic 0 0 0 0 0 1 1
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, 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, 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, FAM120C, FAM133A, 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, GPRASP3, 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, 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, NALF2, 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, VCF2, 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 1
ABCD1, AFF2, ARHGAP4, ATP2B3, ATP6AP1, ATP6AP1-DT, AVPR2, BCAP31, BGN, CCNQ, CD99L2, CETN2, CNGA2, CSAG1, CSAG2, CSAG3, CTAG1A, CTAG1B, CTAG2, CXorf51A, CXorf51B, DNASE1L1, DUSP9, EMD, EOLA1, EOLA1-DT, EOLA2, EOLA2-DT, FAM223A, FAM223B, FAM3A, FAM50A, FATE1, FLNA, FMR1, FMR1NB, FRAXA, FRAXE, G6PD, GABRA3, GABRE, GABRQ, GDI1, GPR50, HAUS7, HCFC1, HMGB3, HSFX1, HSFX2, HSFX3, HSFX4, IDH3G, IDS, IKBKG, IRAK1, L1CAM, LAGE3, LDOC1, LINC00850, LINC02927, LOC100533997, LOC105373367, LOC105373378, LOC105373383, LOC105377213, LOC106050102, LOC106050103, LOC107032825, LOC107048982, LOC107048984, LOC107181288, LOC107988021, LOC107988022, LOC107988024, LOC107988025, LOC107988032, LOC107988033, LOC108281126, LOC109396974, LOC110121199, LOC111365170, LOC111589209, LOC113875014, LOC116309161, LOC116309162, LOC121627982, LOC121627983, LOC121627985, LOC121853070, LOC121853071, LOC121853072, LOC122319696, LOC125467790, LOC125467791, LOC125467792, LOC125467793, LOC126863333, LOC126863334, LOC126863335, LOC126863336, LOC126863337, LOC126863338, LOC126863339, LOC126863340, LOC126863341, LOC126863342, LOC126863343, LOC126863344, LOC126863345, LOC126863346, LOC126863347, LOC129391317, LOC129391318, LOC129929048, LOC129929049, LOC129929050, LOC129929051, LOC129929052, LOC129929053, LOC130068774, LOC130068775, LOC130068776, LOC130068777, LOC130068778, LOC130068779, LOC130068780, LOC130068781, LOC130068782, LOC130068783, LOC130068784, LOC130068785, LOC130068786, LOC130068787, LOC130068788, LOC130068789, LOC130068790, LOC130068791, LOC130068792, LOC130068793, LOC130068794, LOC130068795, LOC130068796, LOC130068797, LOC130068798, LOC130068799, LOC130068800, LOC130068801, LOC130068802, LOC130068803, LOC130068804, LOC130068805, LOC130068806, LOC130068807, LOC130068808, LOC130068809, LOC130068810, LOC130068811, LOC130068812, LOC130068813, LOC130068814, LOC130068815, LOC130068816, LOC130068817, LOC130068818, LOC130068819, LOC130068820, LOC130068821, LOC130068822, LOC130068823, LOC130068824, LOC130068825, LOC130068826, LOC130068827, LOC130068828, LOC130068829, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, LOC130068835, LOC130068836, LOC130068837, LOC130068838, LOC130068839, LOC130068840, LOC130068841, LOC130068842, LOC130068843, LOC130068844, LOC130068845, LOC130068846, LOC130068847, LOC130068848, LOC130068849, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068854, LOC130068855, LOC130068856, LOC130068857, LOC130068858, LOC130068859, LOC130068860, LOC130068861, LOC130068862, LOC130068863, LOC130068864, LOC130068865, LOC130068866, LOC130068867, LOC130068868, LOC130068869, LOC130068870, LOC130068871, LOC130068872, LOC130068873, LOC130068874, LOC130068875, LOC130068876, LOC130068877, LOC130068878, LOC130068879, LOC130068880, LOC130068881, LOC645188, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEC1, MAGEC2, MAGEC3, MAMLD1, MECP2, MIR105-1, MIR105-2, MIR12129, MIR2114, MIR224, MIR3202-1, MIR3202-2, MIR320D2, MIR4330, MIR452, MIR506, MIR507, MIR508, MIR509-1, MIR509-2, MIR509-3, MIR510, MIR513A1, MIR513A2, MIR513B, MIR513C, MIR514A1, MIR514A2, MIR514A3, MIR514B, MIR6858, MIR718, MIR767, MIR888, MIR890, MIR891A, MIR891B, MIR892A, MIR892B, MIR892C, MTM1, MTMR1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, PASD1, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PNMA6F, PRRG3, PWWP4, RENBP, RPL10, SLC10A3, SLC6A8, SLITRK2, SLITRK4, SNORA70, SPANXA1, SPANXA2, SPANXA2-OT1, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM185A, TMEM187, TREX2, UBE2NL, UBL4A, VMA21, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 1
ABCD1, AFF2, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CD99L2, CDR1, CETN2, CLIC2, CMC4, CNGA2, CSAG1, CSAG3, CTAG1A, CTAG1B, CTAG2, CXorf51A, CXorf51B, DKC1, DNASE1L1, DUSP9, EMD, EOLA1, EOLA2, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FATE1, FLNA, FMR1, FMR1NB, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GDI1, GPR50, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, HMGB3, HSFX1, HSFX2, IDH3G, IDS, IKBKG, IRAK1, L1CAM, LAGE3, LDOC1, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEC1, MAGEC2, MAGEC3, MAMLD1, MECP2, MIR105-1, MIR105-2, MIR224, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MPP1, MTCP1, MTM1, MTMR1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PASD1, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PRRG3, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SLITRK2, SLITRK4, SMIM9, SOX3, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM185A, TMEM187, TMLHE, TREX2, UBE2NL, UBL4A, VBP1, VMA21, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF275 1 0 0 0 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, SRPK3, SSR4, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, HCFC1, IDH3G, IRAK1, L1CAM, LOC111365170, LOC116309161, LOC116309162, LOC121853071, LOC125467793, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, LOC130068835, LOC130068836, LOC130068837, LOC130068838, LOC130068839, LOC130068840, LOC130068841, LOC130068842, LOC130068843, LOC130068844, LOC130068845, LOC130068846, LOC130068847, LOC130068848, LOC130068849, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068854, MECP2, MIR3202-1, MIR3202-2, MIR718, NAA10, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, PDZD4, PLXNB3, PNCK, RENBP, SLC6A8, SRPK3, SSR4, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 1
AFF2, FRAXE 1 0 0 0 0 0 1
AGTR2 0 0 0 1 0 0 1
AIFM1, APLN, BCORL1, ELF4, OCRL, SASH3, UTP14A, XPNPEP2, ZDHHC9 1 0 0 0 0 0 1
AKAP14, ATP1B4, C1GALT1C1, CUL4B, DOCK11, IL13RA1, KIAA1210, LAMP2, LONRF3, MCTS1, NDUFA1, NKAP, NKRF, PGRMC1, RHOXF1, RHOXF2, RHOXF2B, RNF113A, RPL39, SEPTIN6, SLC25A43, SLC25A5, SOWAHD, STEEP1, TMEM255A, UBE2A, UPF3B, ZBTB33, ZCCHC12 1 0 0 0 0 0 1
AKAP14, ATP1B4, C1GALT1C1, CUL4B, LAMP2, MCTS1, NDUFA1, NKAP, NKRF, RHOXF1, RHOXF2, RHOXF2B, RNF113A, RPL39, SEPTIN6, SOWAHD, TMEM255A, UBE2A, UPF3B, ZBTB33 0 0 1 0 0 0 1
AKAP4, ARAF, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CDK16, CFP, CLCN5, DGKK, EBP, ELK1, ERAS, FOXP3, FTSJ1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, INE1, JADE3, KCND1, LINC01560, MAGIX, MIR502, MIR532, NDUFB11, NUDT10, NUDT11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM10, RBM3, RGN, RP2, SHROOM4, SLC35A2, SLC38A5, SLC9A7, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SUV39H1, SYN1, SYP, TBC1D25, TFE3, TIMM17B, TIMP1, UBA1, USP11, USP27X, UXT, WAS, WDR13, WDR45, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81 0 0 1 0 0 0 1
AKAP4, ARAF, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CDK16, CFP, CLCN5, DGKK, EBP, ELK1, ERAS, FOXP3, FTSJ1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, INE1, KCND1, LINC01560, MAGIX, MIR502, MIR532, NDUFB11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM10, RBM3, SHROOM4, SLC35A2, SLC38A5, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SUV39H1, SYN1, SYP, TBC1D25, TFE3, TIMM17B, TIMP1, UBA1, USP11, USP27X, UXT, WAS, WDR13, WDR45, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81 0 0 1 0 0 0 1
AKAP4, BMP15, CCNB3, CLCN5, DGKK, GSPT2, MAGED1, MAGED4, MAGED4B, MIR502, MIR532, NUDT10, NUDT11, PAGE1, PAGE4, SHROOM4, SPANXN5, SSX2, SSX2B, SSX7, USP27X, XAGE1A, XAGE1B, XAGE2 0 0 1 0 0 0 1
AKAP4, CCNB3, CLCN5, DGKK, GAGE1, MIR502, MIR532, PAGE1, PAGE4, SHROOM4, USP27X 0 0 1 0 0 0 1
ALPL 0 1 0 0 0 0 1
AMER1, ARHGEF9 0 0 1 0 0 0 1
AMER1, ARHGEF9, ASB12, MTMR8, ZC4H2 0 0 1 0 0 0 1
ARAF, CDK16, CFP, INE1, JADE3, LINC01560, NDUFB11, RBM10, RGN, RP2, SLC9A7, SYN1, TIMP1, UBA1, USP11, ZNF157, ZNF41 1 0 0 0 0 0 1
ARAF, CDK16, INE1, JADE3, LINC01560, NDUFB11, RBM10, RGN, RP2, SYN1, UBA1, USP11, ZNF157, ZNF41 0 0 1 0 0 0 1
ARHGAP4, ATP6AP1, AVPR2, DNASE1L1, EMD, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, RPL10, TAFAZZIN, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 1
ARHGAP4, AVPR2, FLNA, HCFC1, IRAK1, L1CAM, LOC107988032, LOC111365170, LOC116309162, LOC125467793, LOC129929050, LOC129929051, LOC130068837, LOC130068838, LOC130068839, LOC130068840, LOC130068841, LOC130068842, LOC130068843, LOC130068844, LOC130068845, LOC130068846, LOC130068847, LOC130068848, LOC130068849, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068854, LOC130068855, MECP2, MIR3202-1, MIR3202-2, MIR718, NAA10, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, RENBP, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 1
ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, LOC111365170, LOC116309162, LOC125467793, LOC130068836, LOC130068837, LOC130068838, LOC130068839, LOC130068840, LOC130068841, LOC130068842, LOC130068843, LOC130068844, LOC130068845, LOC130068846, LOC130068847, LOC130068848, LOC130068849, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068854, MECP2, MIR3202-1, MIR3202-2, MIR718, NAA10, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, RENBP, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 1
ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TMEM187 1 0 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 1
ARHGAP6, FRMPD4, LOC113845784, LOC129391294, LOC130067941, LOC130067942, MSL3 0 0 1 0 0 0 1
ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX6, BTK, CENPI, CSTF2, DRP2, GLA, HNRNPH2, NOX1, NXF5, PCDH19, RPL36A, RPL36A-HNRNPH2, SRPX2, SYTL4, TAF7L, TIMM8A, TMEM35A, TNMD, TRMT2B, TSPAN6, XKRX 0 0 1 0 0 0 1
ARX, LOC110120595, LOC110120597, POLA1 0 0 1 0 0 0 1
ARX, POLA1 0 1 0 0 0 0 1
ATP6AP1, ATP6AP1-DT, CTAG1A, DNASE1L1, EMD, FAM223A, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, LOC107181288, LOC107988021, LOC107988022, LOC107988032, LOC107988033, LOC108281126, LOC121627985, LOC121853072, LOC129929052, LOC130068856, LOC130068857, LOC130068858, LOC130068859, LOC130068860, LOC130068861, LOC130068862, LOC130068863, LOC130068864, LOC130068865, LOC130068866, LOC130068867, LOC130068868, LOC130068869, LOC130068870, LOC130068871, LOC130068872, LOC130068873, LOC130068874, LOC130068875, LOC130068876, LOC130068877, LOC130068878, LOC130068879, LOC130068880, LOC130068881, MIR6858, PLXNA3, RPL10, SLC10A3, SNORA70, TAFAZZIN, UBL4A 1 0 0 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, GDI1, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 0 0 0 0 1 1
ATP6AP1, FAM50A, GDI1 0 1 0 0 0 0 1
ATP7A, ATRX, COX7B, MAGT1, PGAM4, PGK1 0 0 1 0 0 0 1
ATR 0 0 1 0 0 0 1
ATRX, MAGT1 0 0 1 0 0 0 1
BRCC3, CLIC2, CMC4, F8, F8A1, F8A2, F8A3, FUNDC2, H2AB1, H2AB2, H2AB3, LOC101927830, LOC106146143, LOC106146144, LOC106146150, LOC106146151, LOC106146152, LOC113875016, LOC121627986, LOC125467795, LOC126863349, LOC130068891, LOC130068892, LOC130068893, LOC130068894, LOC130068895, LOC130068896, LOC130068897, MIR1184-1, MIR1184-2, MIR1184-3, MTCP1, RAB39B, TMLHE, VBP1 1 0 0 0 0 0 1
BRCC3, CLIC2, CMC4, F8, FUNDC2, MTCP1, RAB39B, VBP1 0 0 0 0 0 1 1
CASK, DDX3X, GPR34, GPR82, LOC113875025, LOC126863241, LOC130068160, LOC130068161, LOC130068162, LOC130068163, LOC130068164, LOC130068165, LOC130068166, LOC130068167, LOC130068168, LOC130068169, LOC130068170, LOC130068171, LOC130068172, LOC130068173, NYX 1 0 0 0 0 0 1
CASK, LOC130068172, LOC130068173 1 0 0 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 1
CLIC2, LOC130068896, LOC130068897, RAB39B 1 0 0 0 0 0 1
CSTF2 1 0 0 0 0 0 1
CSTF2, NOX1, PCDH19, SRPX2, SYTL4, TNMD, TSPAN6 1 0 0 0 0 0 1
CXorf65, FOXO4, GJB1, IL2RG, ITGB1BP2, MED12, NLGN3, NONO, SLC7A3, SNX12, TAF1, TEX11, ZMYM3 0 0 1 0 0 0 1
DIAPH2, FAM133A, NAP1L3, PABPC5, PCDH11X, PCDH19, RPA4, TGIF2LX 1 0 0 0 0 0 1
EFHC2 0 0 0 0 1 0 1
EIF2S3, LOC130068055 0 0 1 0 0 0 1
EMD, FLNA, HCFC1, IRAK1, MECP2, OPN1LW, OPN1MW, OPN1MW2, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 1
EPOR 0 0 0 0 1 0 1
FAM120C, FGD1, HSD17B10, HUWE1, IQSEC2, KDM5C, MIR98, MIRLET7F2, PHF8, RIBC1, SMC1A, TSR2, WNK3 0 0 1 0 0 0 1
FGF13 1 0 0 0 0 0 1
FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 1
FTX, JPX, SLC16A2, ZCCHC13 1 0 0 0 0 0 1
GBA1, LOC106627981 0 0 1 0 0 0 1
GJB1, MED12, NLGN3 0 0 1 0 0 0 1
GLA, RPL36A-HNRNPH2 0 0 1 0 0 0 1
GPR173, HSD17B10, HUWE1, IQSEC2, KDM5C, MIR98, MIRLET7F2, PHF8, RIBC1, SMC1A, TSPYL2 1 0 0 0 0 0 1
GRIA3, LOC113875007, LOC130068627 1 0 0 0 0 0 1
HNRNPH1, LOC128966623 0 1 0 0 0 0 1
HSD17B10, HUWE1, IQSEC2, KDM5C, MIR98, MIRLET7F2, RIBC1, SMC1A 0 0 1 0 0 0 1
HSD17B10, HUWE1, IQSEC2, RIBC1, SMC1A 0 0 0 1 0 0 1
HUWE1, LOC126863262 0 0 1 0 0 0 1
IL1RAPL1, ZNF611 1 0 0 0 0 0 1
IQSEC2, KDM5C 1 0 0 0 0 0 1
IRAK1, MECP2, OPN1LW, OPN1MW, OPN1MW2, TEX28, TMEM187 1 0 0 0 0 0 1
KLHL15, LOC114022706 0 0 1 0 0 0 1
LAS1L, LOC113875034, LOC130068375, ZC3H12B 0 0 1 0 0 0 1
LDLR 0 1 0 0 0 0 1
LOC130068040, SMS 0 0 1 0 0 0 1
LOC130068255, PQBP1 0 0 1 0 0 0 1
LOC130068281, SYP 0 1 0 0 0 0 1
LOC130068443, SLC16A2 1 0 0 0 0 0 1
LOC130068445, LOC130068446, LOC130068447, LOC130068448, NEXMIF 1 0 0 0 0 0 1
LOC130068596, LOC130068597, LOC130068598, LOC130068599, LOC130068600, LOC130068601, LOC130068602, LOC130068603, LOC130068604, LOC130068605, LOC130068606, LOC130068607, LOC130068608, LOC130068609, LOC130068610, MIR766, NKRF, SEPTIN6, STEEP1, UBE2A 1 0 0 0 0 0 1
LOC130068628, THOC2 0 1 0 0 0 0 1
LOC130068840, NAA10 1 0 0 0 0 0 1
LOC130068867, RPL10 0 0 0 0 1 0 1
LOC130068896, LOC130068897, RAB39B 1 0 0 0 0 0 1
NKRF, UBE2A 1 0 0 0 0 0 1
NPHP1 0 0 0 0 1 0 1
NTF4 0 0 0 1 0 0 1
PHIP 0 0 1 0 0 0 1
PQBP1, SLC35A2 0 0 1 0 0 0 1
REN 0 0 1 0 0 0 1
SERPINA1 1 0 0 0 0 0 1
SIL1 0 0 0 0 1 0 1
SLC25A43, SLC25A5, STEEP1 0 1 0 0 0 0 1
SPANXN1 0 0 1 0 0 0 1
SPTAN1 0 1 0 0 0 0 1
SYN1, TIMP1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 257
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 529 94 3200 5298 1566 0 10687
OMIM 418 0 8 0 0 0 426
Baylor Genetics 49 31 211 0 0 0 291
Illumina Laboratory Services, Illumina 4 8 146 14 111 0 281
Revvity Omics, Revvity 18 18 215 0 0 0 251
Fulgent Genetics, Fulgent Genetics 16 5 81 110 12 0 224
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 56 26 116 8 2 0 208
Institute of Human Genetics, University of Leipzig Medical Center 36 49 79 8 1 0 173
Natera, Inc. 1 0 98 55 13 0 167
3billion 32 39 34 15 0 0 120
Mendelics 63 24 9 12 5 0 113
Neuberg Centre For Genomic Medicine, NCGM 12 15 70 0 0 0 97
New York Genome Center 4 4 84 2 0 0 93
Genome-Nilou Lab 0 0 5 3 81 0 89
GeneReviews 0 0 0 0 0 81 81
Genetic Services Laboratory, University of Chicago 39 9 14 1 1 0 64
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 7 40 5 3 0 57
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 7 35 3 0 0 55
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 19 26 4 4 0 0 53
Juno Genomics, Hangzhou Juno Genomics, Inc 13 16 24 0 0 0 53
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 4 5 41 0 0 0 50
Génétique des Maladies du Développement, Hospices Civils de Lyon 26 13 4 1 0 0 44
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 10 6 24 3 0 0 43
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 25 0 0 0 0 42
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 4 34 0 0 0 42
PreventionGenetics, part of Exact Sciences 0 0 19 18 4 0 41
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 8 13 20 0 0 0 41
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 3 31 2 0 0 40
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 10 2 20 7 1 0 40
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 19 19 1 0 0 0 39
MGZ Medical Genetics Center 1 11 25 1 0 0 38
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 12 12 9 1 4 0 38
RettBASE 12 0 24 1 0 0 37
Centogene AG - the Rare Disease Company 4 6 26 0 0 0 36
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 22 14 0 0 0 0 36
Genome Medicine, Institute for Basic Research in Developmental Disabilities 6 14 10 6 0 0 36
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 4 11 17 0 0 0 32
Molecular Genetics Lab, CHRU Brest 9 8 14 0 0 0 31
Gene2Care/ Palmer Lab, University of New South Wales 3 6 22 0 0 0 31
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 16 14 0 0 0 0 30
GenomeConnect - Brain Gene Registry 0 0 0 0 0 29 29
Laboratory of Medical Genetics, University of Torino 9 6 12 0 0 0 27
MVZ Medizinische Genetik Mainz 1 5 19 0 0 0 25
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 6 4 12 0 23
GenomeConnect, ClinGen 0 0 0 0 0 23 23
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 13 4 5 1 0 0 23
Genetics and Molecular Pathology, SA Pathology 3 6 13 0 0 0 22
Institute for Human Genetics, University Hospital Essen 14 2 6 0 0 0 22
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 5 5 11 0 0 0 21
Service de Génétique Moléculaire, Hôpital Robert Debré 2 9 7 2 0 0 20
Center for Human Genetics, Inc, Center for Human Genetics, Inc 6 4 7 2 0 0 19
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 4 14 0 0 1 0 19
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 7 12 0 0 0 0 19
Institute of Human Genetics, University of Goettingen 0 6 12 0 0 0 18
Sydney Children's Hospital, SCHN 2 3 13 0 0 0 18
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 9 6 2 0 0 0 17
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 10 1 0 0 0 17
Solve-RD Consortium 0 17 0 0 0 0 17
Daryl Scott Lab, Baylor College of Medicine 9 2 5 0 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 12 3 0 16
Duke University Health System Sequencing Clinic, Duke University Health System 8 4 3 0 0 0 15
Neurogenetics Research Program, University of Adelaide 3 10 1 0 1 0 15
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 5 9 0 0 0 15
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 5 4 5 0 0 0 14
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 8 3 2 0 0 0 13
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 7 3 2 1 0 0 13
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 11 0 0 0 13
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 7 0 0 0 0 13
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 11 0 0 0 13
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 4 6 0 0 0 12
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 6 5 0 0 0 0 11
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 9 0 0 0 11
Undiagnosed Diseases Network, NIH 4 5 2 0 0 0 11
Genomic Medicine Lab, University of California San Francisco 4 1 6 0 0 0 11
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 9 1 1 0 0 0 11
Pediatric Department, Peking University First Hospital 4 6 0 0 0 0 10
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 0 1 0 0 0 10
Institute of Immunology and Genetics Kaiserslautern 3 4 3 0 0 0 10
Mayo Clinic Laboratories, Mayo Clinic 2 1 6 0 0 0 9
Hadassah Hebrew University Medical Center 1 3 5 0 0 0 9
Johns Hopkins Genomics, Johns Hopkins University 1 3 5 0 0 0 9
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 3 1 0 0 0 9
Clinical Genomics Laboratory, Stanford Medicine 2 3 4 0 0 0 9
Pediatric Genetics Clinic, Sheba Medical Center 8 1 0 0 0 0 9
Center of Genomic medicine, Geneva, University Hospital of Geneva 7 1 0 0 0 0 8
Suma Genomics 3 4 1 0 0 0 8
UCLA Clinical Genomics Center, UCLA 2 5 0 0 0 0 7
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 5 1 0 0 0 7
Laboratory of Human Genetics, Universidade de São Paulo 6 0 1 0 0 0 7
Dobyns Lab, Seattle Children's Research Institute 5 2 0 0 0 0 7
Center for Human Genetics, University of Leuven 5 2 0 0 0 0 7
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 2 0 4 0 1 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Institute of Human Genetics, Cologne University 2 2 2 0 0 0 6
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 6 0 0 0 0 0 6
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 1 3 0 0 0 6
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 0 2 4 0 0 0 6
Breda Genetics srl 1 1 4 0 0 0 6
Daan van Aalten Lab, University of Dundee 5 0 1 0 0 0 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 2 3 0 0 0 6
Arnesen Lab, University of Bergen 4 1 1 0 0 0 6
GenomeConnect - Simons Searchlight 2 4 0 0 0 0 6
Genomics England Pilot Project, Genomics England 0 6 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 4 0 0 0 5
Institute of Human Genetics, University Hospital of Duesseldorf 1 2 2 0 0 0 5
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 2 2 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 3 2 0 0 5
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 3 0 0 0 0 5
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 4 1 0 0 0 5
Eurofins-Biomnis 2 3 0 0 0 0 5
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 3 0 0 0 5
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 1 3 0 0 0 0 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 1 0 0 0 4
Laboratory for Cytogenetics and Genome Research, KU Leuven 4 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 2 0 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 4 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 1 1 2 0 0 0 4
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 3 1 0 0 0 0 4
Department of Human Genetics, Hannover Medical School 1 0 3 0 0 0 4
DECIPHERD-UDD, Universidad del Desarrollo 0 1 3 0 0 0 4
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 3 0 0 0 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 2 1 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 2 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 1 0 0 0 0 3
Institute for Genomic Medicine, Nationwide Children's Hospital 2 1 0 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 0 0 0 0 0 3
Center of Excellence for Medical Genomics, Chulalongkorn University 1 1 1 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 0 3 0 0 0 0 3
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 3 0 0 0 0 0 3
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 2 1 0 0 0 0 3
Shieh Lab, University of California, San Francisco 1 0 2 0 0 0 3
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 2 1 0 0 0 3
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 0 3 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 1 0 3
Human Genetics Bochum, Ruhr University Bochum 0 2 1 0 0 0 3
Odermatt lab, University of Bonn 0 0 3 0 0 0 3
Laboratory of genome editing, Research Centre for Medical Genetics 2 1 0 0 0 0 3
Wales Gene Park, Division Of Cancer and Genetics, Cardiff University 2 1 0 0 0 0 3
Athena Diagnostics 0 0 0 0 2 0 2
Institute for Human Genetics, University Medical Center Freiburg 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 1 0 0 0 2
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 2 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 1 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 1 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 2 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 1 0 0 0 2
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 0 1 0 0 0 2
Hunter Genetics General Clinical Genetics Service, Hunter Genetics 0 1 1 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 0 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
TIDEX, University of British Columbia 0 1 1 0 0 0 2
Genetics Division, Universidade Federal de Sao Paulo 2 0 0 0 0 0 2
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 2 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 2 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 1 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
National Institute of Neuroscience, National Center of Neurology and Psychiatry 1 1 0 0 0 0 2
Human Neuroscience, La Sapienza University of Rome 0 1 1 0 0 0 2
Laboratory of Reproductive Genetics, Women’s Hospital, School of Medicine, Zhejiang University 1 0 1 0 0 0 2
Institute of Science, Banaras Hindu University 2 0 0 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 2 0 0 0 0 0 2
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 1 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 2 0 0 0 2
Department of Pediatrics, Division of Pediatric Genetics, Necmettin Erbakan University Faculty of Medicine 0 1 1 0 0 0 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 2 2
Research Institute of Medical Genetics, Tomsk National Research Medical Center of Russian Academy of Sciences 2 0 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Claritas Genomics 1 0 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 1 0 0 0 1
Human Developmental Genetics Laboratory, Medical College of Wisconsin 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 1
Neurogenetics Research; Murdoch Childrens Research Institute 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Blueprint Genetics 0 1 0 0 0 0 1
Department of Clinical Science, University of Bergen 0 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 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 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 1 0 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 1 0 0 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 0 0 1 0 0 0 1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 1 0 0 0 0 0 1
Medical Genetics, University of Parma 1 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
emedgene Technologies 1 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Laboratory of Molecular Genetics, CHU RENNES 0 1 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 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 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
KK Women’s and Children’s Hospital 0 0 0 1 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Department of Laboratory Medicine, Daejeon St. Mary’s Hospital 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Bondeson Group, Uppsala University 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Genomics For Life 0 1 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Bioinformatics 0 1 0 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 1
Medical Genome Center, National Center of Neurology and Psychiatry 0 1 0 0 0 0 1
Center of Human Genetics, Erasme Hospital 1 0 0 0 0 0 1
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 0 1 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 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 1 0 0 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 1 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 1 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 1 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 0 1 0 0 0 0 1
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center 0 1 0 0 0 0 1
Biological Sciences, International Islamic University, Islamabad 1 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
Clinical Genetics Service, Universitary Hospital 12 de Octubre 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Spanish Undiagnosed Rare Disease Program-IIER, Instituto de Salud Carlos III 1 0 0 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 0 1 0 0 0 0 1
Dept of Pediatric nervous, The Second Affiliated Hospital Zhejiang University School of Medicine 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Centre for Population Genomics, CPG 1 0 0 0 0 0 1
Pediatric Lab, Suzhou Municipal Hospital 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 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.