ClinVar Miner

Variants studied for X-linked syndromic intellectual disability

Included ClinVar conditions (178):
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 affects other not provided total
2706 744 3119 1686 973 13 2 55 9014

Gene and significance breakdown #

Total genes and gene combinations: 175
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
FLNA 48 11 389 240 123 0 0 1 809
MECP2 410 38 159 16 18 0 0 1 609
ATRX 35 16 234 195 83 0 0 2 543
PCDH19 128 44 235 81 17 0 0 0 494
ATP7A 95 23 149 145 54 0 0 0 452
CDKL5 218 55 115 49 26 0 0 1 445
MED12 13 7 152 100 38 0 0 0 308
MTM1 144 38 46 43 22 0 0 0 285
LAMP2 48 10 127 45 61 0 0 0 284
SLC6A8 40 6 65 101 54 0 0 9 266
FOXG1 59 30 65 80 17 0 0 1 242
OFD1 134 11 49 15 29 0 0 0 236
OTC 87 41 51 37 16 0 0 0 221
DLD 24 33 71 80 28 0 0 0 209
PDHA1 52 14 32 38 28 0 0 0 155
IDS 76 20 13 29 14 6 0 0 149
BCOR 32 5 45 23 40 0 0 0 144
SYN1 8 12 75 41 9 0 0 0 141
IDS, LOC106050102 67 19 10 25 25 7 0 0 140
LIAS 12 4 95 19 6 0 0 0 133
ARHGEF9 12 8 62 35 4 0 0 0 121
SLC9A6 18 5 58 28 14 0 0 0 121
OCRL 32 8 14 8 6 0 0 32 98
PDHB 11 0 44 36 13 0 0 0 98
PDHX 12 3 39 8 31 0 0 1 92
GJB1 53 11 12 2 6 0 0 0 83
NEXMIF 38 5 32 2 4 0 0 1 81
SRPX2 2 1 50 21 7 0 0 0 77
HPRT1 64 6 6 1 0 0 0 0 76
DDX3X 45 24 7 1 0 0 0 0 71
RPS6KA3 37 13 14 1 4 0 0 0 67
NHS 26 2 8 8 21 0 0 0 65
ZDHHC9 6 3 30 19 7 0 0 0 64
CASK 39 17 7 1 1 0 0 0 63
CDKL5, RS1 6 0 29 12 9 0 0 0 53
PDK3 1 0 30 13 5 0 0 0 49
HUWE1 13 18 18 2 1 0 0 1 48
FANCB 0 0 21 5 21 0 0 0 47
KDM5C 21 12 13 0 0 0 0 2 47
PRPS1 16 4 18 2 8 0 0 0 47
SLC16A2 32 8 5 0 2 0 0 0 46
TAF1 6 14 20 6 0 0 0 0 45
L1CAM 24 11 8 0 0 0 0 0 42
DLAT 4 1 17 13 7 0 0 0 40
ATP6AP2 4 0 22 7 6 0 0 0 39
PLP1, RAB9B 24 7 5 0 1 0 0 0 37
FLNA, LOC107988032 3 1 22 4 5 0 0 0 35
PHF6 17 3 9 1 5 0 0 0 35
CUL4B 9 5 14 3 4 0 0 0 34
THOC2 6 7 21 1 0 0 0 0 34
LAS1L 2 1 21 8 2 0 0 0 33
PQBP1 10 4 12 1 7 0 0 0 32
EFNB1 16 12 2 0 1 0 0 0 30
MAP3K15, PDHA1 0 0 11 1 18 0 0 0 30
ARX 25 2 2 0 0 0 0 0 29
ZIC3 2 1 18 2 7 0 0 0 29
NAA10 18 9 4 0 0 0 0 0 27
DCX 19 6 2 1 0 0 0 0 26
ZC4H2 16 6 3 0 0 0 0 1 25
MAOA 6 1 8 4 4 0 0 0 23
OPHN1 8 4 10 1 0 0 0 0 23
GRIA3 6 1 10 3 2 0 0 0 22
SHROOM4 2 0 16 4 0 0 0 0 21
PGK1 14 1 5 1 0 0 0 0 20
PHF8 6 2 10 1 0 0 0 1 20
NDP 17 2 0 0 0 0 0 0 19
FMR1 7 1 1 2 5 0 2 0 18
HSD17B10 9 5 4 0 0 0 0 0 18
SMS 10 3 4 1 0 0 0 0 18
GPC3 10 3 4 0 0 0 0 0 17
PORCN 10 5 2 0 0 0 0 0 17
UPF3B 7 1 5 1 3 0 0 0 17
USP9X 9 3 5 0 0 0 0 0 17
ATP2B3 1 2 6 1 6 0 0 0 16
AFF2 3 0 10 2 0 0 0 0 15
PTEN 4 1 10 0 0 0 0 0 15
UBE2A 5 5 4 0 0 0 0 0 14
APIP, PDHX 0 0 5 2 6 0 0 0 13
CNKSR2 4 1 8 0 0 0 0 0 13
LIAS, LOC112939935 0 0 9 4 0 0 0 0 13
TIMM8A 11 1 0 0 1 0 0 0 13
AP1S2 10 1 0 0 0 0 0 0 11
ARX, LOC109610631 7 1 1 0 0 0 0 1 10
MBTPS2 6 0 4 0 0 0 0 0 10
NONO 8 2 0 0 0 0 0 0 10
EIF2S3 4 3 3 0 0 0 0 0 9
MSL3 7 1 0 0 0 0 0 0 8
PDP1 3 0 4 0 1 0 0 0 8
RPL10 3 1 5 0 0 0 0 0 8
HNRNPH2, RPL36A-HNRNPH2 4 4 0 0 0 0 0 0 7
MAP3K7 4 1 2 0 0 0 0 0 7
POLA1 5 1 1 0 0 0 0 0 7
AIFM1, RAB33A 4 1 2 0 0 0 0 0 6
HCCS 4 1 1 0 0 0 0 0 6
AMMECR1 3 2 0 0 0 0 0 0 5
COX7B 3 0 2 0 0 0 0 0 5
FAM50A 5 0 0 0 0 0 0 0 5
HPRT1, LOC107032760 4 1 0 0 0 0 0 0 5
NKAP 5 0 0 0 0 0 0 0 5
SOX3 1 1 3 0 0 0 0 0 5
​intergenic 0 2 0 0 1 0 0 1 4
HS6ST2 1 0 3 0 0 0 0 0 4
KLLN, PTEN 0 0 4 0 0 0 0 0 4
L1CAM, LCA10 0 0 0 1 3 0 0 0 4
NDUFB11 2 0 2 0 0 0 0 0 4
STAG2 3 0 0 1 0 0 0 0 4
CYB5R3 2 1 0 0 0 0 0 0 3
DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN 0 0 3 0 0 0 0 0 3
HDAC6 1 0 2 0 0 0 0 0 3
IGBP1 1 0 2 0 0 0 0 0 3
LINC00630, RAB40AL 0 0 2 0 1 0 0 0 3
PCDH19, SRPX2, TNMD, TSPAN6 2 0 1 0 0 0 0 0 3
RBMX 1 0 2 0 0 0 0 0 3
SREBF1 3 0 0 0 0 0 0 0 3
WDR45 2 0 1 0 0 0 0 0 3
ATP7A, PGAM4 0 0 0 1 1 0 0 0 2
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 1 0 0 0 0 0 2
CLIC2 1 0 1 0 0 0 0 0 2
DLAT, PIH1D2 1 0 1 0 0 0 0 0 2
DNM2 2 0 0 0 0 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 0 0 2
GJC2 0 1 1 0 0 0 0 0 2
IRAK1, MECP2, MIR718 2 0 0 0 0 0 0 0 2
LOC108281134, SOX3 0 0 1 1 0 0 0 0 2
LOC119369039, MIR4769, SYN1, TIMP1 0 0 2 0 0 0 0 0 2
PLP1 2 0 0 0 0 0 0 0 2
RAB39B 2 0 0 0 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, CXorf22, CXorf30, CXorf38, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf58, CXorf65, CXorf66, CYBB, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCAF8L1, DCAF8L2, DCX, DDX3X, DDX53, DGAT2L6, DGKK, DIAPH2, DIPK2B, DLG3, DMD, DMRTC1, DMRTC1B, DNAAF6, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, ENOX2, EOLA1, EOLA2, ERAS, ERCC6L, ESX1, F9, FAAH2, FAM104B, FAM120C, FAM133A, FAM156A, FAM156B, FAM199X, FAM47A, FAM47B, FAM47C, FATE1, FGD1, FGF13, FGF16, FHL1, FMR1, FMR1NB, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FTHL17, FTSJ1, FTX, FUNDC1, GABRA3, GABRE, GABRQ, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, GDPD2, GJB1, GK, GLA, GLOD5, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPR101, GPR119, GPR173, GPR174, GPR34, GPR50, GPR82, GPRASP1, GPRASP2, GRIA3, GRIPAP1, GRPR, GSPT2, GUCY2F, H2AP, H2BW1, H2BW2, HAUS7, HCFC1, HDAC6, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HSFX1, HSFX2, HTATSF1, HTR2C, HUWE1, IDH3G, IDS, IGBP1, IGSF1, IL13RA1, IL13RA2, IL1RAPL1, IL1RAPL2, IL2RG, INE1, INE2, INTS6L, IQSEC2, IRAK1, IRS4, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL15, KLHL34, KLHL4, KRBOX4, L1CAM, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC01560, LOC100509091, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAMLD1, MAOA, MAOB, MAP3K15, MAP7D2, MAP7D3, MBNL3, MBTPS2, MCF2, MCTS1, MECP2, MED12, MED14, MID1IP1, MID2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR424, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MIR532, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MPC1L, MSN, MTM1, MTMR1, MTMR8, MTRNR2L10, NAA10, 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 0 0 1
ABCD1 0 0 1 0 0 0 0 0 1
ABCD1, BCAP31, IDH3G, L1CAM, PDZD4, PLXNB3, SLC6A8, SRPK3, SSR4 0 0 1 0 0 0 0 0 1
ACTRT1, DCAF12L1, LOC113875008, OCRL, PRR32, SMARCA1 1 0 0 0 0 0 0 0 1
ADGB, GRM1, LOC101928661, LOC114004398, RAB32 1 0 0 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 0 0 1
ADGRG2, CDKL5, PDHA1, PHKA2, PPEF1, RS1 1 0 0 0 0 0 0 0 1
AFF2, FRAXE 1 0 0 0 0 0 0 0 1
AKAP14, ATP1B4, LAMP2, NDUFA1, NKAP, RHOXF1, RHOXF2, RHOXF2B, RNF113A, TMEM255A, UPF3B, ZBTB33 0 0 1 0 0 0 0 0 1
AMMECR1, RTL9 1 0 0 0 0 0 0 0 1
AMMECR1, TMEM164 0 0 1 0 0 0 0 0 1
APLN, OCRL, SASH3, XPNPEP2, ZDHHC9 0 0 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 0 0 1
ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, LCA10, LOC111365170, LOC116309162, MECP2, MIR3202-1, MIR3202-2, MIR718, NAA10, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, RENBP, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 0 0 1
ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TMEM187 1 0 0 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 0 0 1
ARSJ, FOXG1 1 0 0 0 0 0 0 0 1
ATP2B3, BCAP31, BGN, CCNQ, DUSP9, HAUS7, LOC100509091, PNCK, PNMA6E, SLC6A8, TREX2, ZFP92 1 0 0 0 0 0 0 0 1
ATP6AP2, BCOR 0 0 1 0 0 0 0 0 1
ATP6AP2, BCOR, CASK, CXorf38, DDX3X, GPR34, GPR82, MED14, MPC1L, NYX, USP9X 0 0 1 0 0 0 0 0 1
ATP6AP2, BCOR, CFAP47, CXorf22, CXorf30, CXorf38, CYBB, DMD, DYNLT3, FAM47A, FAM47B, FAM47C, FTHL17, GK, H2AP, LANCL3, MAGEB16, MED14, MID1IP1, MPC1L, NR0B1, OTC, PRRG1, RPGR, SRPX, SYTL5, TAB3, TASL, TMEM47, TSPAN7, USP9X, XK 1 0 0 0 0 0 0 0 1
ATR 0 0 1 0 0 0 0 0 1
BEX2, BEX3, MORF4L2, PLP1, RAB40A, RAB9B, TCEAL1, TCEAL3, TCEAL4, TCEAL5, TCEAL7, TCEAL8, TCEAL9, TMEM31 1 0 0 0 0 0 0 0 1
CCDC160, GPC3, HPRT1, MIR106A, MIR19B2, PHF6 1 0 0 0 0 0 0 0 1
CD99L2, GPR50, HMGB3, MTM1, MTMR1, VMA21 0 0 1 0 0 0 0 0 1
CLIC2, RAB39B 1 0 0 0 0 0 0 0 1
CYBB, DYNLT3, H2AP, OTC, RPGR, SRPX, SYTL5, XK 1 0 0 0 0 0 0 0 1
DLD, LAMB1 0 0 0 0 1 0 0 0 1
EPOR 0 0 0 0 1 0 0 0 1
FANCL 1 0 0 0 0 0 0 0 1
FHL1, SLC9A6 0 0 1 0 0 0 0 0 1
FMR1, FRAXA, LOC107032825 1 0 0 0 0 0 0 0 1
FOXG1, WDFY1 1 0 0 0 0 0 0 0 1
FRMD7, GPC3, GPC4, HS6ST2, IGSF1, MBNL3, OR13H1, RAP2C, STK26, TFDP3, USP26 1 0 0 0 0 0 0 0 1
FZD4, PRSS23 1 0 0 0 0 0 0 0 1
G6PD 0 0 1 0 0 0 0 0 1
GABBR2 1 0 0 0 0 0 0 0 1
GJB1, MED12, NLGN3 0 0 1 0 0 0 0 0 1
GJB2 1 0 0 0 0 0 0 0 1
HNRNPH1 0 1 0 0 0 0 0 0 1
LIAS, RPL9, UGDH 0 0 1 0 0 0 0 0 1
NPHP1 0 0 0 0 1 0 0 0 1
RHOBTB2 0 1 0 0 0 0 0 0 1
SALL1 0 0 1 0 0 0 0 0 1
SERPINA1 1 0 0 0 0 0 0 0 1
SIL1 0 0 0 0 1 0 0 0 1
TMEM17 0 0 1 0 0 0 0 0 1
TSPAN12 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 211
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Invitae 590 124 2095 1542 702 0 0 0 5053
OMIM 765 0 2 0 0 0 0 0 767
RettBASE 458 15 148 1 0 0 0 0 622
Illumina Clinical Services Laboratory,Illumina 4 1 250 45 207 0 0 0 498
Genetic Services Laboratory, University of Chicago 333 57 36 0 0 0 0 0 426
Baylor Genetics 64 26 162 0 0 0 0 0 252
GeneReviews 192 0 0 0 11 0 0 0 203
Natera, Inc. 7 1 85 46 43 0 0 0 182
Mendelics 63 43 16 24 27 0 0 0 173
Institute of Human Genetics, University of Leipzig Medical Center 33 24 47 6 1 0 0 0 111
Fulgent Genetics,Fulgent Genetics 24 4 68 0 0 0 0 0 96
Centre for Mendelian Genomics,University Medical Centre Ljubljana 11 16 53 4 3 0 0 0 87
Integrated Genetics/Laboratory Corporation of America 36 25 5 2 6 0 0 0 74
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 64 3 5 0 0 0 0 0 72
Genomic Research Center, Shahid Beheshti University of Medical Sciences 17 12 38 3 1 0 0 0 71
Institute of Human Genetics, Klinikum rechts der Isar 42 17 0 0 0 0 0 0 59
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 19 32 1 3 0 0 0 0 55
Génétique des Maladies du Développement, Hospices Civils de Lyon 29 15 5 2 1 0 0 0 52
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 3 25 19 0 0 0 48
Center for Human Genetics, Inc,Center for Human Genetics, Inc 14 7 11 4 0 0 0 0 36
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 17 7 9 2 0 0 0 0 35
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 32 32
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 31 0 0 0 1 0 0 0 32
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 22 7 0 0 0 0 0 0 29
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 13 7 5 2 1 0 0 0 28
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 23 0 2 1 1 0 0 0 27
Counsyl 3 19 5 0 0 0 0 0 27
Genome Medicine,Institute for Basic Research in Developmental Disabilities 0 11 10 6 0 0 0 0 27
Service de Génétique Moléculaire,Hôpital Robert Debré 5 12 7 2 0 0 0 0 26
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 2 3 0 17 0 0 0 24
Molecular Genetics laboratory,Necker Hospital 24 0 0 0 0 0 0 0 24
Pediatrics,All India Institute of Medical Sciences, New Delhi 0 11 0 0 0 13 0 0 24
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 16 1 1 1 4 0 0 0 23
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 14 8 0 0 0 0 0 0 22
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 11 8 0 0 0 0 0 22
Broad Institute Rare Disease Group, Broad Institute 4 8 4 0 5 0 0 0 21
Sydney Children's Hospital, SCHN 4 3 13 0 0 0 0 0 20
New York Genome Center 2 3 14 1 0 0 0 0 20
Undiagnosed Diseases Network,NIH 13 5 1 0 0 0 0 0 19
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 4 14 0 0 1 0 0 0 19
Genomic Medicine Lab, University of California San Francisco 9 5 5 0 0 0 0 0 19
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 12 6 0 0 0 0 0 0 18
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 15 3 0 0 0 0 0 18
Myriad Women's Health, Inc. 2 16 0 0 0 0 0 0 18
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 10 5 0 0 0 0 0 0 15
Mayo Clinic Laboratories, Mayo Clinic 4 4 7 0 0 0 0 0 15
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 4 1 0 0 0 0 0 14
Center of Genomic medicine, Geneva,University Hospital of Geneva 13 1 0 0 0 0 0 0 14
Neurogenetics Research Program, University of Adelaide 3 10 1 0 0 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 0 0 14 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 2 10 0 0 0 0 0 14
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 8 4 0 0 0 0 0 0 12
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 2 6 3 0 0 0 0 0 11
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 9 2 0 0 0 0 0 0 11
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 3 3 1 2 1 0 0 0 10
Centogene AG - the Rare Disease Company 4 6 0 0 0 0 0 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 6 3 1 0 0 0 0 0 10
MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA 7 3 0 0 0 0 0 0 10
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 4 0 0 0 0 0 0 10
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 7 2 1 0 0 0 0 0 10
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 7 3 0 0 0 0 0 0 10
Athena Diagnostics Inc 9 0 0 0 0 0 0 0 9
Blueprint Genetics 1 8 0 0 0 0 0 0 9
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 6 1 2 0 0 0 0 0 9
Center for Human Genetics,University of Leuven 5 4 0 0 0 0 0 0 9
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 3 1 0 0 0 0 0 9
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 0 9 9
Clinical Genetics laboratory, University of Goettingen 0 3 5 0 0 0 0 0 8
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 4 2 2 0 0 0 0 0 8
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 2 3 0 0 0 0 0 8
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 6 0 0 0 0 0 8
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 4 0 0 0 0 0 0 8
UCLA Clinical Genomics Center, UCLA 2 5 0 0 0 0 0 0 7
Dobyns Lab,Seattle Children's Research Institute 6 1 0 0 0 0 0 0 7
Daryl Scott Lab,Baylor College of Medicine 4 2 1 0 0 0 0 0 7
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 7 0 0 0 0 0 0 0 7
Clinical Genomics Program, Stanford Medicine 2 2 3 0 0 0 0 0 7
Medical Molecular Genetics Department, National Research Center 6 0 0 0 0 0 0 0 6
Ege University Pediatric Genetics,Ege University 3 1 2 0 0 0 0 0 6
Caldovic Lab,Children's National Health System 0 6 0 0 0 0 0 0 6
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 0 2 4 0 0 0 0 0 6
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 4 2 0 0 0 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 1 1 4 0 0 0 0 0 6
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 4 2 0 0 0 0 0 0 6
Elsea Laboratory,Baylor College of Medicine 2 2 0 1 0 0 0 0 5
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 2 1 0 0 0 0 0 5
Department of Medical Genetics, Oslo University Hospital 0 5 0 0 0 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 0 1 0 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 1 3 0 1 0 0 0 5
Genetics Division,Universidade Federal de Sao Paulo 4 1 0 0 0 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 3 2 0 0 0 0 0 5
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 2 3 0 0 0 0 0 5
Biochemistry Laboratory of CDMU,Chengde Medical University 3 2 0 0 0 0 0 0 5
GeneDx 1 0 1 0 2 0 0 0 4
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 1 0 2 0 4
Northcott Neuroscience Laboratory, ANZAC Research Institute 4 0 0 0 0 0 0 0 4
TIDEX, University of British Columbia 3 1 0 0 0 0 0 0 4
Laboratory for Cytogenetics and Genome Research,KU Leuven 4 0 0 0 0 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 1 0 0 0 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 3 0 0 0 0 0 4
Breda Genetics srl 1 1 2 0 0 0 0 0 4
Nilou-Genome Lab 0 0 1 2 1 0 0 0 4
GenomeConnect - Simons Searchlight 1 3 0 0 0 0 0 0 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 3 0 0 0 0 0 0 3
Claritas Genomics 3 0 0 0 0 0 0 0 3
Institute of Human Genetics, Uniklinik RWTH Aachen 0 2 1 0 0 0 0 0 3
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 3 0 0 0 0 0 0 3
Clinical Genetics Laboratory of Dermatology,Peking University First Hospital 3 0 0 0 0 0 0 0 3
Institute of Cellular and Molecular Medicine,Copenhagen University 3 0 0 0 0 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 1 1 1 0 0 0 0 0 3
Codex Genetics Limited 2 1 0 0 0 0 0 0 3
Genetics Institute, Tel Aviv Sourasky Medical Center 2 1 0 0 0 0 0 0 3
Shieh Lab,University of California, San Francisco 1 0 2 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 2 0 0 0 0 0 0 2
Institute for Human Genetics,University Clinic Freiburg 1 0 1 0 0 0 0 0 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 1 0 0 0 0 0 2
Institute of Human Genetics,Cologne University 1 0 1 0 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 0 0 2
Molecular Genetics and RNA Biology,University of Milan 2 0 0 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 0 0 2
Elsea Lab, Dept of Molecular and Human Genetics,Baylor College of Medicine 2 0 0 0 0 0 0 0 2
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 0 0 0 0 2 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 1 0 0 0 0 0 2
Institute of Experimental Endocrinology,Slovak Academy of Sciences 1 0 1 0 0 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 1 1 0 0 0 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 2 0 0 0 0 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 0 2 0 0 0 0 0 0 2
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 2 0 0 0 0 0 0 2
Felix Claverie-Martin Laboratory,Hospital Universitario Nuestra Senora de Candelaria 2 0 0 0 0 0 0 0 2
Institute of Bioinformatics 0 2 0 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 0 0 2
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 1 1 0 0 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 1 0 0 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 1 0 0 0 0 0 2
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 2 0 0 0 0 0 2
Research Laboratory of Human Genome and Multifactorial Diseases,Faculty of Pharmacy, University of Monastir 2 0 0 0 0 0 0 0 2
National Institute of Neuroscience,National Center of Neurology and Psychiatry 1 1 0 0 0 0 0 0 2
UF de génétique clinique,APHP Hôpital Armand Trousseau 0 2 0 0 0 0 0 0 2
Human Neuroscience,La Sapienza University of Rome 0 1 1 0 0 0 0 0 2
CMT Laboratory,Bogazici University 2 0 0 0 0 0 0 0 2
Center for Human Genetics Laboratory,University Hospitals - University Hospitals Laboratory Service Foundation 1 0 0 0 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 0 1
Neurogenetics Research; Murdoch Childrens Research Institute 1 0 0 0 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 0 0 1
Section on Translational Neuroscience,Molecular Medicine Program; NICHD; National Institutes of Health 0 0 0 1 0 0 0 0 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 1 0 0 0 0 0 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 1 0 0 0 0 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 0 0 0 1
Laboratory of Human Genetics,Universidade de São Paulo 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 1 0 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 1 0 0 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 0 0 0 0 0 1
Erez Levanon lab,Bar Ilan University 1 0 0 0 0 0 0 0 1
Choi Lab,Seoul National University 1 0 0 0 0 0 0 0 1
emedgene Technologies 1 0 0 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 0 1
University of Bologna, Medical Genetics Unit,University of Bologna 1 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 0 0 0 1
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 0 1 0 0 0 0 0 0 1
MIND Institute, Wet lab,University of California Davis 1 0 0 0 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 1 0 0 0 0 0 0 0 1
Biochimie Génétique et moléculaire, CHUGA 1 0 0 0 0 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 1 0 0 0 0 0 0 0 1
Human Genetics Unit,University of Colombo 0 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal University 0 1 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 0 0 1
Leeds Institute of Biomedical and Clinical Sciences,University of Leeds 1 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 0 1
Department of Laboratory Medicine,Daejeon St. Mary’s Hospital 1 0 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 0 1
Leiden Open Variation Database 1 0 0 0 0 0 0 0 1
Pediatric Nephrology (Iijima Lab),Kobe University Graduate School of Medicine 1 0 0 0 0 0 0 0 1
SBielas Lab, Department of Human Genetics,University of Michigan 0 0 0 1 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
Dpt. of Clinical Genetics, Molecular Genetics Lab 4062, University Hospital of Copenhagen, Rigshospitalet 0 1 0 0 0 0 0 0 1
Inherited Neuropathy Consortium 0 0 1 0 0 0 0 0 1
Molecular Neuropsychiatry & Development Lab,Centre for Addiction and Mental Health 0 1 0 0 0 0 0 0 1
Laboratory of Functional Genomics,Research Centre for Medical Genetics 0 1 0 0 0 0 0 0 1
Bondeson Group,Uppsala University 1 0 0 0 0 0 0 0 1
Genomics For Life 0 1 0 0 0 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 0 1 0 0 0 0 0 0 1
Uitto Lab,Thomas Jefferson University 1 0 0 0 0 0 0 0 1
Pediatric Neurology,Northwest Women’s and Children’s Hospital 1 0 0 0 0 0 0 0 1
Center of Human Genetics, Erasme Hospital 1 0 0 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 0 1 0 0 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 0 0 0 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 0 1 0 0 0 1
SavaGenome Genetic Health Clinic 1 0 0 0 0 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 1 0 0 0 0 0 0 0 1
Research Centre for Medical Genetics,Federal State Budgetary Scientific Institution 1 0 0 0 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 0 0 1
Genomics, and Precision Dentistry Research Unit, Faculty of Dentistry, Chulalongkorn University 1 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 0 0 1
St George's Genomics Service,St George's University Hospitals NHS FT 1 0 0 0 0 0 0 0 1
Biological Sciences,International Islamic University, Islamabad 1 0 0 0 0 0 0 0 1
Department of Pediatrics,University Hospital Center Zagreb 1 0 0 0 0 0 0 0 1
Arnesen Lab,University of Bergen 0 0 1 0 0 0 0 0 1
Genomic Medicine,Universita Cattolica del Sacro Cuore 1 0 0 0 0 0 0 0 1
Medical Genetics Laboratory,CHRU Nancy 1 0 0 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 0 0 1
Laboratory of Reproductive Genetics,Women’s Hospital, School of Medicine, Zhejiang University 1 0 0 0 0 0 0 0 1

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