ClinVar Miner

Variants studied for X-linked syndromic intellectual disability

Included ClinVar conditions (104):
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
1165 612 3587 4108 1207 133 10457

Gene and significance breakdown #

Total genes and gene combinations: 139
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FLNA 79 25 723 1178 446 4 2422
ATRX 53 38 520 1216 252 4 1964
MED12 16 24 449 532 171 52 1203
PCDH19 235 70 402 252 18 4 954
SYN1 38 15 171 172 18 1 406
ARHGEF9 26 12 138 139 29 1 338
RPS6KA3 57 22 39 59 50 1 222
ZDHHC9 8 7 71 84 28 1 194
UPF3B 10 6 51 66 35 0 165
DDX3X 77 60 18 4 1 18 155
ATP6AP2 4 1 73 61 11 0 147
HUWE1 15 27 93 9 4 2 144
FLNA, LOC107988032 5 2 39 52 26 0 123
LOC125467768, PCDH19 27 2 61 31 1 0 121
CUL4B 11 11 42 31 27 0 119
KDM5C 35 27 42 4 1 8 114
PHF6 24 8 29 26 20 1 107
LAS1L 2 2 48 42 14 0 106
NEXMIF 43 12 40 5 0 3 100
CASK 52 32 13 3 1 0 97
MECP2 44 11 34 15 1 1 96
TAF1 11 22 38 11 1 0 80
CLCN4 12 14 47 3 0 0 75
SLC16A2 37 21 11 1 2 8 75
LOC126863275, MED12 0 1 26 39 7 2 74
OPHN1 16 14 30 5 0 2 67
GRIA3 11 9 26 5 6 1 57
THOC2 7 9 31 3 4 0 52
USP9X 19 9 16 1 1 3 48
PQBP1 15 6 14 1 6 1 40
NAA10 22 14 8 2 0 1 39
SHROOM4 0 1 29 4 4 0 38
CUL4B, LOC113845788 3 1 18 12 2 0 36
PHF8 7 5 19 1 1 1 33
CNKSR2 10 6 17 0 0 0 32
PORCN 17 10 5 0 0 1 32
SMS 9 7 11 2 2 6 32
NONO 13 7 3 1 0 0 24
POLA1 6 1 11 4 0 0 22
UBE2A 4 8 6 0 0 0 18
NKAP 6 2 7 0 4 0 17
TFE3 9 5 4 0 0 0 17
AP1S2 11 3 1 0 0 1 15
EIF2S3 5 4 6 0 1 0 15
HNRNPH2, RPL36A-HNRNPH2 4 7 2 0 1 0 12
RPL10 3 1 8 0 0 0 11
LOC121627969, SYN1 0 0 2 8 0 0 10
RBMX 1 1 6 0 1 1 10
ARX 1 1 6 1 0 0 9
ATP6AP2, LOC130068149 0 0 4 5 0 0 9
HS6ST2 1 0 6 2 0 0 9
LOC130068854, MECP2 1 0 5 1 1 0 8
ATRX, LOC130068458 0 0 3 4 1 0 7
GLRA2 5 1 2 0 0 0 7
SOX3 1 1 4 1 0 0 7
CLIC2 1 0 4 1 0 0 6
BCOR 0 1 1 3 0 0 5
HUWE1, LOC126863263 0 0 5 0 0 0 5
LOC130068032, RPS6KA3 0 0 1 3 1 0 5
WNK3 4 0 1 0 0 0 5
ARX, LOC109610631 2 0 1 0 0 1 4
EMD, FLNA 1 0 3 0 0 0 4
LOC108281134, SOX3 0 0 2 1 1 0 4
BCOR, LOC126863239 0 0 1 2 0 0 3
DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN 0 0 3 0 0 0 3
FANCB, GLRA2 1 1 1 0 0 0 3
IGBP1 0 0 3 0 0 0 3
KDM5C, LOC130068308 1 1 1 0 0 0 3
PCDH19, SRPX2, TNMD, TSPAN6 2 0 1 0 0 0 3
RAB39B 2 0 1 0 0 0 3
ATP6AP2, BCOR, CASK, CXorf38, DDX3X, GPR34, GPR82, MED14, MPC1L, NYX, USP9X 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
LOC126863330, RBMX 1 0 1 0 0 0 2
LOC130068256, PQBP1 0 1 0 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, FAM104B, 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, 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
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 0 0 1 0 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, 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
AMER1, ARHGEF9, ASB12, MTMR8, ZC4H2 0 0 1 0 0 0 1
APLN, OCRL, SASH3, XPNPEP2, ZDHHC9 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
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
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
ATP7A, ATRX, COX7B, MAGT1, PGAM4 0 0 1 0 0 0 1
ATR 0 0 1 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
CLIC2, LOC130068896, LOC130068897, RAB39B 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
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
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
GRIA3, LOC113875007, LOC130068627 1 0 0 0 0 0 1
HNRNPH1, LOC128966623 0 1 0 0 0 0 1
HUWE1, LOC126863262 0 0 1 0 0 0 1
IRAK1, MECP2, OPN1LW, OPN1MW, OPN1MW2, TEX28, TMEM187 1 0 0 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
LOC130068443, SLC16A2 1 0 0 0 0 0 1
LOC130068445, LOC130068446, LOC130068447, LOC130068448, NEXMIF 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
PHIP 0 0 1 0 0 0 1
PQBP1, SLC35A2 0 0 1 0 0 0 1
SIL1 0 0 0 0 1 0 1
SPANXN1 0 0 1 0 0 0 1
SYN1, TIMP1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 217
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 411 77 2628 3944 1147 0 8207
OMIM 292 0 2 0 0 0 294
Fulgent Genetics, Fulgent Genetics 16 4 70 93 11 0 194
Baylor Genetics 40 22 129 0 0 0 191
Natera, Inc. 1 0 98 55 13 0 167
Revvity Omics, Revvity 16 14 117 0 0 0 147
Institute of Human Genetics, University of Leipzig Medical Center 27 38 48 6 1 0 120
3billion 31 34 28 1 0 0 94
Mendelics 55 23 2 8 4 0 92
GeneReviews 0 0 0 0 0 81 81
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 20 8 46 1 1 0 76
New York Genome Center 3 2 62 2 0 0 68
Genetic Services Laboratory, University of Chicago 35 9 14 1 1 0 60
Genome-Nilou Lab 0 0 5 3 46 0 54
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 15 22 3 2 0 0 42
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 10 2 20 7 1 0 40
Neuberg Centre For Genomic Medicine, NCGM 6 5 28 0 0 0 39
RettBASE 12 0 24 1 0 0 37
Génétique des Maladies du Développement, Hospices Civils de Lyon 21 12 3 1 0 0 37
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 6 23 3 2 0 36
Genome Medicine, Institute for Basic Research in Developmental Disabilities 6 14 10 6 0 0 36
Illumina Laboratory Services, Illumina 4 7 16 0 7 0 34
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 11 12 8 0 3 0 34
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 4 18 2 0 0 34
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 3 25 2 0 0 33
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 20 12 0 0 0 0 32
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 9 5 16 2 0 0 32
Gene2Care/ Palmer Lab, University of New South Wales 3 6 22 0 0 0 31
MGZ Medical Genetics Center 1 7 18 1 0 0 27
Molecular Genetics Lab, CHRU Brest 9 6 12 0 0 0 27
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 4 20 0 0 0 27
Centogene AG - the Rare Disease Company 4 5 17 0 0 0 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 18 0 0 0 0 26
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 13 11 0 0 0 0 24
GenomeConnect - Brain Gene Registry 0 0 0 0 0 24 24
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 14 9 0 0 0 0 23
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 6 10 7 0 0 0 23
Genetics and Molecular Pathology, SA Pathology 3 6 11 0 0 0 20
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 4 14 0 0 1 0 19
Laboratory of Medical Genetics, University of Torino 8 4 7 0 0 0 19
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 8 8 0 0 0 19
Sydney Children's Hospital, SCHN 2 3 13 0 0 0 18
Service de Génétique Moléculaire, Hôpital Robert Debré 3 9 5 1 0 0 18
GenomeConnect, ClinGen 0 0 0 0 0 18 18
Institute for Human Genetics, University Hospital Essen 12 1 5 0 0 0 18
Center for Human Genetics, Inc, Center for Human Genetics, Inc 6 4 5 2 0 0 17
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 11 1 2 0 0 0 14
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 7 7 0 0 0 0 14
Duke University Health System Sequencing Clinic, Duke University Health System 8 3 2 0 0 0 13
Neurogenetics Research Program, University of Adelaide 2 10 1 0 0 0 13
Institute of Human Genetics, University of Goettingen 0 2 10 0 0 0 12
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 5 3 4 0 0 0 12
Daryl Scott Lab, Baylor College of Medicine 8 2 2 0 0 0 12
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 4 5 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 2 5 0 11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 6 5 0 0 0 0 11
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 4 6 0 0 0 11
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 9 1 1 0 0 0 11
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 5 4 2 0 0 0 11
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 6 4 0 0 0 0 10
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 6 2 2 0 0 0 10
Pediatric Department, Peking University First Hospital 4 6 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 7 2 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 7 0 0 0 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 0 0 0 0 0 9
Undiagnosed Diseases Network, NIH 2 5 2 0 0 0 9
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 4 0 0 0 0 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 7 0 0 0 9
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 6 1 1 0 0 0 8
Genomic Medicine Lab, University of California San Francisco 3 1 4 0 0 0 8
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 3 0 0 0 0 8
Pediatric Genetics Clinic, Sheba Medical Center 7 1 0 0 0 0 8
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 1 6 0 0 0 8
Center of Genomic medicine, Geneva, University Hospital of Geneva 6 1 0 0 0 0 7
Center for Human Genetics, University of Leuven 5 2 0 0 0 0 7
Johns Hopkins Genomics, Johns Hopkins University 1 2 4 0 0 0 7
Clinical Genomics Program, Stanford Medicine 2 3 2 0 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 2 1 3 0 0 0 6
UCLA Clinical Genomics Center, UCLA 2 4 0 0 0 0 6
Laboratory of Human Genetics, Universidade de São Paulo 6 0 0 0 0 0 6
Dobyns Lab, Seattle Children's Research Institute 5 1 0 0 0 0 6
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 6 0 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 4 0 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
Arnesen Lab, University of Bergen 4 1 1 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Suma Genomics 2 3 1 0 0 0 6
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 0 3 0 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
Institute of Human Genetics, Cologne University 2 0 2 0 0 0 4
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 3 0 0 0 0 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 1 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 3 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 1 2 1 0 0 0 4
Laboratory for Cytogenetics and Genome Research, KU Leuven 4 0 0 0 0 0 4
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 2 0 0 4
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 3 1 0 0 0 0 4
GenomeConnect - Simons Searchlight 1 3 0 0 0 0 4
Genomics England Pilot Project, Genomics England 0 4 0 0 0 0 4
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 2 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
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 1 2 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 2 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 1 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 1 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 0 1 2 0 0 0 3
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 3 0 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 2 0 0 3
Shieh Lab, University of California, San Francisco 1 0 2 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
Wales Gene Park, Division Of Cancer and Genetics, Cardiff University 2 1 0 0 0 0 3
Institute for Human Genetics, University Medical Center Freiburg 1 0 1 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 1 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 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
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 1 0 0 0 2
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 0 1 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 0 1 0 0 0 2
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 2 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 2
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 2 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 1 0 0 0 2
Lifecell International Pvt. Ltd 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
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 2 0 0 0 0 2
Institute of Science, Banaras Hindu University 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 0 1 0 0 0 2
Laboratory of genome editing, Research Centre for Medical Genetics 1 1 0 0 0 0 2
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 1 0 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
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Human Developmental Genetics Laboratory, Medical College of Wisconsin 0 1 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 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 Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 1 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
Hadassah Hebrew University Medical Center 0 0 1 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
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, 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
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 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
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 1
Genetics Division, Universidade Federal de Sao Paulo 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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Bondeson Group, Uppsala University 1 0 0 0 0 0 1
Genomics For Life 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 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
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
Center of Human Genetics, Erasme Hospital 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 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
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center 0 1 0 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 0 1 0 0 0 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
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
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 1 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 1
Centre for Population Genomics, CPG 1 0 0 0 0 0 1

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