ClinVar Miner

Variants studied for X-linked syndromic intellectual disability

Included ClinVar conditions (169):
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
2237 507 2030 404 220 53 5317

Gene and significance breakdown #

Total genes and gene combinations: 184
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MECP2 402 29 154 13 18 0 588
FLNA 24 5 194 27 13 1 263
CDKL5 164 36 48 10 4 0 253
ABCD1 78 39 76 23 14 0 220
ATP7A 85 19 61 11 4 0 178
MTM1 133 23 24 2 1 0 178
OFD1 124 10 27 3 9 0 172
PCDH19 51 20 84 12 4 0 170
LAMP2 36 8 73 34 5 0 154
ATRX 25 8 87 14 3 1 136
MED12 11 5 75 20 3 0 114
FOXG1 43 18 32 10 0 0 101
OTC 45 20 18 6 6 0 89
DLD 14 23 39 6 11 0 87
NEXMIF 32 1 43 4 5 1 85
NUBPL 1 2 55 9 4 1 71
PDHX 11 2 29 12 17 1 69
HPRT1 60 2 4 1 0 0 67
OCRL 23 4 8 0 2 32 67
NDUFA10 0 0 46 18 0 0 64
SLC6A8 28 1 26 4 1 9 63
PDHA1 39 11 11 1 0 0 60
BCOR 21 5 21 2 10 0 59
CASK 39 15 4 0 1 0 57
GJB1 48 7 1 1 0 0 56
RPS6KA3 32 9 9 1 0 0 50
DLAT 2 1 31 10 6 0 46
IDS 34 5 7 0 0 0 46
PDP1 2 0 38 2 3 0 45
IDS, LOC106050102 33 9 1 1 2 0 44
LIAS 5 1 37 1 1 0 44
NDUFS1 1 1 28 13 0 0 43
ARHGEF9 8 5 25 4 0 0 42
NDUFAF4 1 0 32 6 2 0 41
NDUFV1 3 4 31 3 0 1 41
SLC9A6 15 4 16 3 4 0 41
DDX3X 27 13 1 0 0 0 39
FOXRED1 1 2 33 2 1 0 38
SLC16A2 28 6 3 0 2 0 38
SYN1 6 4 23 5 1 0 38
HUWE1 13 18 8 1 1 0 36
NDUFS2 0 1 30 4 0 0 35
PRPS1 16 2 9 7 2 0 35
TAF1 6 12 12 6 0 0 35
KDM5C 19 10 3 0 0 1 32
FANCB 0 0 11 13 6 0 30
NHS 18 2 4 2 3 0 29
PLP1, RAB9B 19 6 3 0 0 0 28
ARX 23 2 2 0 0 0 27
L1CAM 20 3 4 0 0 0 27
SRPX2 1 1 23 3 0 0 27
PDHB 2 0 16 1 7 0 26
EFNB1 15 6 2 0 1 0 24
THOC2 6 5 14 0 0 0 24
ZDHHC9 5 1 11 6 1 0 24
DCX 18 4 1 0 0 0 23
NDUFAF1 0 0 18 5 0 0 23
CUL4B 9 3 7 1 2 0 21
CDKL5, RS1 5 0 8 4 3 0 20
DLAT, PIH1D2 1 0 13 3 3 0 20
PHF6 15 2 3 0 0 0 20
NDP 17 2 0 0 0 0 19
NDUFAF3 0 0 19 0 0 0 19
NDUFS4 6 0 8 2 3 1 19
PGK1 14 1 5 0 0 0 19
GRIA3 6 1 6 3 2 0 18
LAS1L 2 1 12 3 0 0 18
PDK3 1 0 14 1 1 0 17
PQBP1 10 0 3 4 1 0 17
FLNA, LOC107988032 1 0 14 0 1 0 16
NDUFV2 0 0 13 2 1 0 16
OPHN1 8 2 5 1 0 0 16
PTEN 4 1 11 0 0 0 16
NDUFS3 0 2 13 0 0 0 15
ZC4H2 13 2 0 0 0 1 15
ZIC3 2 0 5 9 0 0 15
GPC3 10 3 1 0 0 0 14
NDUFS8 0 0 13 0 1 0 14
HSD17B10 8 2 3 0 0 0 13
SMS 11 0 1 1 0 0 13
PORCN 8 3 1 0 0 0 12
TIMM8A 10 1 0 0 1 0 12
ATP6AP2 2 0 8 0 1 0 11
NDUFAF2 0 1 10 0 0 0 11
NDUFS7 0 0 9 2 0 0 11
USP9X 7 2 2 0 0 0 11
APIP, PDHX 0 0 4 0 6 0 10
ATP2B3 1 0 2 1 6 0 10
UPF3B 7 0 2 1 0 0 10
ARX, LOC109610631 7 1 0 0 0 1 9
CLASP1, RNU4ATAC 7 5 0 0 0 0 9
FMR1 7 0 0 1 1 0 9
LOC112552175, NDUFA11 0 0 7 2 0 0 9
MAOA 4 1 4 0 0 0 9
PHF8 5 1 1 1 0 1 9
AP1S2 8 0 0 0 0 0 8
NDUFS6 0 0 7 1 0 0 8
SHROOM4 2 0 5 2 0 0 8
ADAMTS4, NDUFS2 0 0 6 1 0 0 7
AFF2 2 0 3 2 0 0 7
GAMT, NDUFS7 0 0 0 7 0 0 7
MBTPS2 6 0 1 0 0 0 7
NDUFA11 0 0 7 0 0 0 7
NDUFA2 0 0 5 2 0 0 7
NONO 7 0 0 0 0 0 7
UBE2A 5 2 0 0 0 0 7
AIFM1, RAB33A 4 1 2 0 0 0 6
EIF2S3 4 2 1 0 0 0 6
LIAS, LOC112939935 0 0 5 1 0 0 6
HCCS 4 1 0 0 0 0 5
MAP3K7 4 1 0 0 0 0 5
PLP1 5 0 0 0 0 0 5
POLA1 5 0 0 0 0 0 5
AMMECR1 3 1 0 0 0 0 4
COX7B 3 0 1 0 0 0 4
ERCC8, NDUFAF2 0 0 1 1 2 0 4
HNRNPH2, RPL36A-HNRNPH2 3 1 0 0 0 0 4
L1CAM, LCA10 0 0 0 1 3 0 4
NAA10 1 3 0 0 0 0 4
RPL10 3 1 1 0 0 0 4
CNKSR2 3 0 0 0 0 0 3
HPRT1, LOC107032760 3 0 0 0 0 0 3
KLLN, PTEN 0 0 3 0 0 0 3
LINC00630, RAB40AL 0 0 2 0 1 0 3
NDUFA2, TMCO6 0 0 3 0 0 0 3
NDUFAF5 0 1 2 0 0 0 3
NDUFB11 2 0 1 0 0 0 3
WDR45 2 0 1 0 0 0 3
​intergenic 0 0 0 0 1 1 2
ATP7A, PGAM4 0 0 0 1 1 0 2
CYB5R3 2 0 0 0 0 0 2
DNASE1L1, EMD, FLNA, RPL10, TAZ 0 0 2 0 0 0 2
DNM2 2 0 0 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 2
GJC2 0 1 1 0 0 0 2
IRAK1, MECP2, MIR718 2 0 0 0 0 0 2
LOC112081413, NDUFS8 0 0 2 0 0 0 2
MIR4769, SYN1, TIMP1 0 0 2 0 0 0 2
MT-ND2 2 0 0 0 0 0 2
NDUFS8, TCIRG1 0 0 1 1 0 0 2
RAB39B 2 0 0 0 0 0 2
RBMX 1 1 0 0 0 0 2
SLC25A10 0 2 0 0 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, CXorf21, CXorf22, CXorf30, CXorf38, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf56, 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, FAM122B, FAM122C, FAM133A, FAM155B, FAM156A, FAM156B, FAM199X, FAM47A, FAM47B, FAM47C, FATE1, FGD1, FGF13, FGF16, FHL1, FMR1, FMR1NB, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FTHL17, FTHL18, 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, MAGEA5, 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, 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, STK26, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL4, SYTL5, TAB3, TAF1, TAF7L, TAF9B, 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, 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 1
ABCD1, BCAP31, PLXNB3 1 0 0 0 0 0 1
ABCD1, BCAP31, SLC6A8 1 0 0 0 0 0 1
ACAD9 0 0 1 0 0 0 1
ACTRT1, DCAF12L1, LOC113875008, OCRL, PRR32, SMARCA1 1 0 0 0 0 0 1
ADGB, GRM1, LOC101928661, LOC114004398, RAB32 1 0 0 0 0 0 1
AFF2, FRAXE 1 0 0 0 0 0 1
AKAP14, ATP1B4, LAMP2, NDUFA1, NKAP, RHOXF1, RHOXF2, RHOXF2B, RNF113A, TMEM255A, UPF3B, ZBTB33 0 0 1 0 0 0 1
AMACR, C1QTNF3-AMACR 0 0 1 0 0 0 1
AMMECR1, RTL9 1 0 0 0 0 0 1
AMMECR1, TMEM164 0 0 1 0 0 0 1
AP4S1, ARHGAP5, DTD2, GPR33, HEATR5A, HECTD1, LINC02313, LOC101927124, LOC112267854, MIR624, NUBPL, STRN3 0 0 1 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
ARSJ, FOXG1 1 0 0 0 0 0 1
ATR 0 0 1 0 0 0 1
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 0 0 0 0 1
CLIC2 1 0 0 0 0 0 1
CLIC2, RAB39B 1 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 1
FMR1, FRAXA, LOC107032825 1 0 0 0 0 0 1
FOXG1, WDFY1 1 0 0 0 0 0 1
FRMD7, GPC3, GPC4, HS6ST2, IGSF1, MBNL3, OR13H1, RAP2C, STK26, TFDP3, USP26 1 0 0 0 0 0 1
FZD4, PRSS23 1 0 0 0 0 0 1
GABBR2 1 0 0 0 0 0 1
GJB2 1 0 0 0 0 0 1
HDAC6 1 0 0 0 0 0 1
IGBP1 1 0 0 0 0 0 1
LIAS, LOC111365176, LOC112939935, RPL9, UGDH 0 0 1 0 0 0 1
MRPL36, NDUFS6 0 0 1 0 0 0 1
MT-ND4 1 0 0 0 0 0 1
NDUFA1 0 0 1 0 0 1 1
NDUFA13 1 0 0 0 0 0 1
NDUFB3 0 1 0 0 0 0 1
PCDH19, SRPX2, TNMD, TSPAN6 1 0 0 0 0 0 1
RHOBTB2 0 1 0 0 0 0 1
SALL1 0 0 1 0 0 0 1
SERPINA1 1 0 0 0 0 0 1
SOX3 1 0 0 0 0 0 1
TMEM17 0 0 1 0 0 0 1
TSPAN12 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 152
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 290 59 957 134 59 0 1499
Illumina Clinical Services Laboratory,Illumina 0 3 611 192 76 0 882
OMIM 750 0 4 0 0 0 754
RettBASE 458 15 148 1 0 0 622
Genetic Services Laboratory, University of Chicago 333 58 39 0 0 0 430
GeneReviews 194 0 0 0 11 0 205
Mendelics 69 47 16 25 30 0 187
Fulgent Genetics,Fulgent Genetics 26 6 75 0 0 0 107
Genomic Research Center, Shahid Beheshti University of Medical Sciences 17 14 38 4 0 0 73
Baylor Genetics 40 7 24 0 0 0 71
Integrated Genetics/Laboratory Corporation of America 24 12 7 3 7 0 53
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 17 30 1 3 0 0 51
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 4 26 21 0 51
Institute of Human Genetics,Klinikum rechts der Isar 38 12 0 0 0 0 50
Génétique des Maladies du Développement, Hospices Civils de Lyon 18 14 5 0 0 0 37
Center for Human Genetics, Inc 14 7 11 4 0 0 36
Counsyl 5 22 6 0 0 0 33
UniProtKB/Swiss-Prot 0 0 0 0 0 32 32
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 31 0 0 0 1 0 32
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 15 6 7 2 0 0 30
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 13 7 5 2 1 0 28
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 23 0 2 1 1 0 27
Genome Medicine,Institute for Basic Research in Developmental Disabilities 0 11 10 6 0 0 27
Johns Hopkins Genomics,Johns Hopkins University 12 5 7 0 0 0 24
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 16 1 1 1 4 0 23
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 2 3 0 16 0 22
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 10 9 0 0 0 22
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 4 5 12 0 0 0 21
GOLD service, Hunter New England Health 4 3 13 0 0 0 20
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 11 7 1 0 0 0 19
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 15 3 0 0 0 18
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 3 14 0 0 1 0 18
Molecular Diagnostics Laboratory, M Health: University of Minnesota 6 12 0 0 0 0 18
Broad Institute Rare Disease Group,Broad Institute 3 9 4 0 0 0 16
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 10 5 0 0 0 0 15
Undiagnosed Diseases Network,NIH 10 5 0 0 0 0 15
Center of Genomic medicine, Geneva,University Hospital of Geneva 13 1 0 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 2 10 0 0 0 14
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 7 4 1 0 0 0 12
GenomeConnect, ClinGen 0 0 0 0 0 12 12
Athena Diagnostics Inc 10 0 0 0 1 0 11
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 2 6 3 0 0 0 11
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 3 3 1 2 1 0 10
MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA 7 3 0 0 0 0 10
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 6 4 0 0 0 0 10
Center for Human Genetics,University of Leuven 5 4 0 0 0 0 9
GenomeConnect-Association for Creatine Deficiencies 0 0 0 0 0 9 9
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 6 0 0 0 8
Genomic Medicine Lab, University of California San Francisco 5 2 1 0 0 0 8
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 2 3 0 0 0 7
UCLA Clinical Genomics Center, UCLA 2 5 0 0 0 0 7
Dobyns Lab,Seattle Children's Research Institute 6 1 0 0 0 0 7
Biochemistry Laboratory of CDMU,Chengde Medical University 4 3 0 0 0 0 7
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 7 0 0 0 0 0 7
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 6 0 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 2 1 0 0 0 6
Medical Molecular Genetics Department, National Research Center 6 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 6 0 0 0 0 6
Ege University Pediatric Genetics,Ege University 3 1 2 0 0 0 6
SIB Swiss Institute of Bioinformatics 0 2 3 0 1 0 6
Caldovic Lab,Children's National Health System 0 6 0 0 0 0 6
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 2 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 3 0 0 0 0 5
Genetics Division,Universidade Federal de Sao Paulo 4 1 0 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 3 2 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 1 0 0 0 5
GeneDx 1 0 1 0 2 0 4
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 1 2 0 0 0 4
Northcott Neuroscience Laboratory, ANZAC Research Institute 4 0 0 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 0 0 0 0 4
Laboratory for Cytogenetics and Genome Research,KU Leuven 4 0 0 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 1 0 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 3 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 1 0 0 0 0 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 3 0 0 0 0 3
Claritas Genomics 3 0 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 2 0 0 0 3
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 3 0 0 0 0 3
TIDEX, University of British Columbia 3 0 0 0 0 0 3
Institute of Cellular and Molecular Medicine,Copenhagen University 3 0 0 0 0 0 3
Codex Genetics Limited 2 1 0 0 0 0 3
Institute of Human Genetics,University of Goettingen 0 2 0 0 0 0 2
Institute for Human Genetics,University Clinic Freiburg 1 0 1 0 0 0 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 1 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 2
Molecular Genetics and RNA Biology,University of Milan 2 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 2
Elsea Lab, Dept of Molecular and Human Genetics,Baylor College of Medicine 2 0 0 0 0 0 2
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 0 0 0 0 2 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Institute of Experimental Endocrinology,Slovak Academy of Sciences 1 0 1 0 0 0 2
Daryl Scott Lab,Baylor College of Medicine 2 0 0 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 1 1 0 0 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 0 2 0 0 0 0 2
SBielas Lab, Department of Human Genetics,University of Michigan 1 0 0 1 0 0 2
Computational Biology Unit,University of Bari 0 2 0 0 0 0 2
Felix Claverie-Martin Laboratory,Hospital Universitario Nuestra Senora de Candelaria 2 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Center for Human Genetics Laboratory,University Hospitals - University Hospitals Laboratory Service Foundation 1 0 0 0 0 0 1
Neurogenetics Research; Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 1 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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 0 1
INSERM U1051,Institut des Neurosciences de Montpellier 1 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 1
Section on Translational Neuroscience,Molecular Medicine Program; NICHD; National Institutes of Health 0 0 0 1 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 1 0 0 0 0 1
Faculty of Medicine, Iran University of Medical Sciences (IUMS) 1 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 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
Laboratory of Human Genetics,Universidade de São Paulo 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 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
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 0 0 0 1
Erez Levanon lab,Bar Ilan University 1 0 0 0 0 0 1
Choi Lab,Seoul National University 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
University of Bologna, Medical Genetics Unit,University of Bologna 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 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 1
MIND Institute, Wet lab,University of California Davis 1 0 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 1 0 0 0 0 0 1
Biochimie Génétique et moléculaire,CHUGA 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 1
Leeds Institute of Biomedical and Clinical Sciences,University of Leeds 1 0 0 0 0 0 1
Department of Laboratory Medicine,Daejeon St. Mary’s Hospital 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Pediatric Nephrology (Iijima Lab),Kobe University Graduate School of Medicine 1 0 0 0 0 0 1
Inherited Neuropathy Consortium 0 0 1 0 0 0 1
Molecular Neuropsychiatry & Development Lab,Centre for Addiction and Mental Health 0 1 0 0 0 0 1
Bondeson Group,Uppsala University 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Uitto Lab,Thomas Jefferson University 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Bioinformatics 0 1 0 0 0 0 1
Pediatric Neurology,Northwest Women’s and Children’s Hospital 1 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 0 1 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 0 1 0 1
SavaGenome Genetic Health Clinic 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 0 1
St George's Genomics Service,St George's University Hospitals NHS FT 1 0 0 0 0 0 1

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