ClinVar Miner

Variants studied for X-linked syndromic intellectual disability

Included ClinVar conditions (161):
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
2085 357 1675 591 555 44 5185

Gene and significance breakdown #

Total genes and gene combinations: 181
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MECP2 392 26 153 15 22 0 583
FLNA 29 5 142 76 92 1 344
CDKL5 151 30 34 11 16 0 232
OFD1 124 7 21 7 26 0 185
MTM1 136 21 17 4 7 0 181
ATP7A 82 17 35 23 25 0 180
ABCD1 59 23 53 22 21 0 172
LAMP2 35 16 62 41 12 0 158
ATRX 21 4 57 28 33 1 141
PCDH19 29 8 58 31 16 0 139
MED12 11 4 49 36 25 0 125
FOXG1 39 15 34 18 5 0 105
NEXMIF 28 1 30 9 23 0 90
SLC6A8 21 0 18 20 29 1 89
DLD 14 19 36 6 11 0 82
OTC 40 14 16 8 7 0 77
NUBPL 1 2 55 9 4 1 71
PDHX 11 2 29 11 15 1 68
BCOR 17 4 18 2 24 0 64
NDUFA10 0 0 46 18 0 0 64
HPRT1 59 2 2 0 0 0 62
OCRL 22 2 5 1 3 32 62
SYN1 4 3 20 16 9 0 49
DLAT 2 1 31 11 5 0 47
GJB1 43 3 0 0 0 0 46
PDHA1 35 7 4 0 0 0 46
CASK 33 8 4 0 0 0 45
PDP1 2 0 38 2 3 0 45
LIAS 5 1 28 5 6 0 44
SLC9A6 12 1 12 9 12 0 44
NDUFS1 1 1 28 13 0 0 43
IDS, LOC106050102 34 3 1 1 4 0 42
RPS6KA3 26 8 8 1 0 0 42
NDUFAF4 1 0 32 6 2 0 41
FOXRED1 1 2 33 2 1 0 38
IDS 32 3 3 0 0 0 38
NDUFV1 3 1 31 3 0 1 38
NHS 16 1 4 3 11 0 35
NDUFS2 0 1 29 4 0 0 34
ARHGEF9 5 3 13 11 1 0 33
PRPS1 16 0 8 7 2 0 32
SRPX2 1 1 21 8 4 0 32
HUWE1 13 17 5 0 1 0 31
SLC16A2 24 5 1 0 2 0 31
FANCB 0 0 11 13 6 0 30
KDM5C 20 5 1 0 0 1 27
ZDHHC9 5 1 10 7 4 0 27
ARX 22 2 2 0 0 0 26
DDX3X 17 8 1 0 0 0 25
PDHB 2 0 14 1 8 0 25
PLP1, RAB9B 18 4 3 0 0 0 25
EFNB1 15 5 2 0 1 0 23
L1CAM 18 1 4 0 0 0 23
NDUFAF1 0 0 18 5 0 0 23
DCX 18 3 1 0 0 0 22
CDKL5, RS1 4 0 8 5 6 0 21
CUL4B 8 2 7 2 2 0 21
PHF6 15 3 2 0 2 0 21
DLAT, PIH1D2 1 0 13 3 3 0 20
PDK3 1 0 10 6 3 0 20
FLNA, LOC107988032 1 0 12 1 5 0 19
LAS1L 2 0 10 6 1 0 19
NDUFAF3 0 0 19 0 0 0 19
NDUFS4 6 0 8 2 3 1 19
NDP 17 1 0 0 0 0 18
ATP6AP2 2 0 8 1 6 0 17
NDUFV2 0 0 13 2 1 0 16
PGK1 14 0 2 0 0 0 16
PTEN 4 1 11 0 0 0 16
PQBP1 8 0 3 3 1 0 15
THOC2 6 4 6 0 0 0 15
ZIC3 2 0 5 9 0 0 15
GPC3 10 3 1 0 0 0 14
NDUFS3 0 1 13 0 0 0 14
NDUFS8 0 0 13 0 1 0 14
OPHN1 7 1 5 1 0 0 14
GRIA3 6 0 4 2 1 0 13
ZC4H2 12 0 0 0 0 1 13
HSD17B10 8 1 3 0 0 0 12
NDUFAF2 0 1 10 0 0 0 11
NDUFS7 0 0 9 2 0 0 11
TIMM8A 10 0 0 0 1 0 11
USP9X 7 2 2 0 0 0 11
APIP, PDHX 0 0 4 0 6 0 10
SMS 9 0 0 1 0 0 10
UPF3B 6 0 2 0 2 0 10
ATP2B3 1 0 1 1 6 0 9
LOC112552175, NDUFA11 0 0 7 2 0 0 9
MAOA 4 1 2 0 2 0 9
PORCN 7 1 1 0 0 0 9
AP1S2 8 0 0 0 0 0 8
ARX, LOC109610631 7 1 0 0 0 0 8
NDUFS6 0 0 7 1 0 0 8
TAF1 6 1 1 0 0 0 8
ADAMTS4, NDUFS2 0 0 6 1 0 0 7
CLASP1, RNU4ATAC 7 1 0 0 0 0 7
FMR1 7 0 0 0 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
PHF8 5 0 1 0 0 1 7
IKBKG 6 0 0 0 0 0 6
LIAS, LOC112939935 0 0 4 2 0 0 6
SHROOM4 2 0 2 2 0 0 6
UBE2A 5 1 0 0 0 0 6
EIF2S3 4 1 1 0 0 0 5
HCCS 4 1 0 0 0 0 5
NONO 5 0 0 0 0 0 5
POLA1 5 0 0 0 0 0 5
AFF2 2 0 2 0 0 0 4
AMMECR1 3 1 0 0 0 0 4
ERCC8, NDUFAF2 0 0 1 1 2 0 4
MAP3K7 4 0 0 0 0 0 4
AIFM1, RAB33A 1 1 1 0 0 0 3
CNKSR2 3 0 0 0 0 0 3
COX7B 3 0 0 0 0 0 3
HNRNPH2, RPL36A-HNRNPH2 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
RPL10 3 0 1 0 0 0 3
WDR45 2 0 1 0 0 0 3
​intergenic 0 0 0 0 1 1 2
DNM2 2 0 0 0 0 0 2
HPRT1, LOC107032760 2 0 0 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
NDUFB11 2 0 0 0 0 0 2
NDUFS8, TCIRG1 0 0 1 1 0 0 2
PLP1 2 0 0 0 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, CXorf40A, CXorf40B, 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, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, ENOX2, 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, GLRA4, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPR101, GPR119, GPR173, GPR174, GPR34, GPR50, GPR82, GPRASP1, GPRASP2, GRIA3, GRIPAP1, GRPR, GSPT2, GUCY2F, H2BFM, H2BFWT, HAUS7, HCFC1, HDAC6, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HSFX1, HSFX2, HTATSF1, HTR2C, HUWE1, HYPM, 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, PIH1D3, 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, BCAP31, PLXNB3 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, LOC109461475 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
ATP7A, PGAM4 0 0 0 1 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
CYSLTR1, LPAR4, MIR4328, P2RY10, RTL3 1 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 1
DNASE1L1, EMD, FLNA, RPL10, TAZ 0 0 1 0 0 0 1
EMD, FLNA 0 0 1 0 0 0 1
FMR1, LOC107032825, LOC108684022 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
G6PD, IKBKG 0 0 1 0 0 0 1
GABBR2 1 0 0 0 0 0 1
GJB2 1 0 0 0 0 0 1
GJC2 0 0 1 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
NAA10 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
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: 122
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 198 36 675 356 432 0 1697
Illumina Clinical Services Laboratory,Illumina 0 3 611 192 76 0 882
OMIM 753 0 4 0 0 0 757
RettBASE 458 15 148 1 0 0 622
Genetic Services Laboratory, University of Chicago 333 58 39 0 0 0 430
GeneReviews 181 0 0 0 11 0 192
Fulgent Genetics 26 6 75 0 0 0 107
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 68 7 0 0 1 0 76
Genomic Research Center,Shahid Beheshti University of Medical Sciences 16 14 28 4 0 0 62
Baylor Miraca Genetics Laboratories, 33 5 22 0 0 0 60
Integrated Genetics/Laboratory Corporation of America 24 12 7 3 7 0 53
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 4 26 21 0 51
Center for Human Genetics, Inc 14 7 11 4 0 0 36
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
Counsyl 4 19 6 0 0 0 29
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 13 7 5 2 1 0 28
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 7 18 0 3 0 0 28
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 23 0 2 1 1 0 27
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 10 15 1 0 0 0 26
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 16 1 1 1 4 0 23
HudsonAlpha Institute for Biotechnology 11 5 5 2 0 0 23
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 4 5 12 0 0 0 21
Institute of Human Genetics,Klinikum rechts der Isar 15 5 0 0 0 0 20
Laboratoire de Cytogenetique,Hospices Civils de Lyon 8 8 3 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
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 10 5 0 0 0 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 2 11 0 0 0 15
Center of Genomic medicine, Geneva,University Hospital of Geneva 12 1 0 0 0 0 13
GOLD service, Hunter New England Health 4 3 5 0 0 0 12
Undiagnosed Diseases Network,NIH 8 4 0 0 0 0 12
Athena Diagnostics Inc 10 0 0 0 1 0 11
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 7 3 1 0 0 0 11
GenomeConnect, ClinGen 0 0 0 0 0 11 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,University of Leuven 5 4 0 0 0 0 9
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 7 0 0 0 9
Mendelics 6 1 0 0 0 0 7
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 4 0 0 0 7
Biochemistry Laboratory of CDMU,Chengde Medical University 4 3 0 0 0 0 7
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 6 0 0 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 4 1 0 0 0 0 5
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 5 0 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
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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 2 2 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
Broad Institute Rare Disease Group,Broad Institute 0 2 2 0 0 0 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 3 0 0 0 4
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
Medical Molecular Genetics,National Research Centre 3 0 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
Johns Hopkins Genomics,Johns Hopkins University 2 0 1 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 Medical Center 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 0 2
Institute of Experimental Endocrinology,Slovak Academy of Sciences 1 0 1 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 1 1 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
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,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
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 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
Laboratory of Molecular Genetics,CHU RENNES 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
Pediatric Nephrology (Iijima Lab),Kobe University Graduate School of Medicine 1 0 0 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 of Bioinformatics 0 1 0 0 0 0 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 0 1 0 0 0 0 1

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