ClinVar Miner

Variants studied for X-linked disease

Included ClinVar conditions (258):
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
3800 520 2234 890 783 69 8130

Gene and significance breakdown #

Total genes and gene combinations: 273
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL4A5 770 33 25 4 19 0 847
MECP2 396 26 153 15 22 0 587
FLNA 23 5 142 76 92 1 338
F8 261 4 2 0 4 0 270
CDKL5 150 29 34 11 16 0 231
OFD1 124 7 21 7 26 0 185
ATP7A 83 18 36 23 25 0 183
ABCD1 59 24 53 22 21 0 173
MTM1 128 21 17 4 7 0 173
LAMP2 35 16 62 41 12 0 158
ATRX 21 4 57 28 33 1 141
PCDH19 29 9 59 31 16 0 141
COL4A4 0 0 99 22 18 0 139
MED12 11 4 49 36 25 0 125
FOXG1 39 15 34 18 5 0 105
COL4A3, LOC654841 0 1 59 23 14 0 97
PHEX 74 5 10 8 1 0 97
NEXMIF 28 1 30 9 23 0 90
SLC6A8 22 0 18 20 29 1 90
IQSEC2 25 3 23 19 18 1 88
DLD 14 19 36 6 11 0 82
OTC 38 14 16 8 7 0 75
ZNF81 0 0 25 31 18 0 74
NUBPL 1 2 55 9 4 1 71
BRWD3 5 2 25 23 15 0 70
ARX 25 3 19 15 7 0 69
EMD 28 2 24 8 6 0 68
PDHX 11 2 29 11 15 1 68
EDA 43 7 15 0 2 0 65
NDUFA10 0 0 46 18 0 0 64
PHEX, PTCHD1 46 7 6 4 2 0 64
BCOR 16 4 18 2 24 0 63
OCRL 22 2 5 1 3 32 62
HPRT1 57 1 2 0 0 0 60
WAS 28 6 12 2 8 0 56
DKC1 46 2 0 3 0 22 53
RPS6KA3 33 9 8 2 0 0 50
SYN1 4 3 20 16 9 0 49
DLAT 2 1 31 11 5 0 47
PDHA1 35 8 4 0 0 0 47
GJB1 43 3 0 0 0 0 46
PDP1 2 0 38 2 3 0 45
CASK 33 7 4 0 0 0 44
LIAS 5 1 28 5 6 0 44
SLC9A6 12 1 12 9 12 0 44
NDUFS1 1 1 28 13 0 0 43
ARHGEF6 1 0 19 20 2 0 42
IDS, LOC106050102 32 6 1 1 4 0 42
NDUFAF4 1 0 32 6 2 0 41
ZNF41 0 0 10 24 7 0 41
CDKL5, RS1 13 8 9 5 6 0 39
IDS 28 5 6 0 0 0 39
FOXRED1 1 2 33 2 1 0 38
NDUFV1 3 1 31 3 0 1 38
PRPS1 21 0 8 7 2 0 37
NHS 16 1 4 3 11 0 35
CD40LG 18 7 3 0 7 0 34
NDUFS2 0 1 29 4 0 0 34
ARHGEF9 5 3 13 11 1 0 33
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
SLC25A38 0 0 21 6 3 0 30
ACD 2 0 14 3 9 0 28
RAB39B 5 0 12 5 6 0 28
ZNF711 4 2 11 5 6 0 28
AVPR2 23 1 1 0 1 1 27
IL1RAPL1 5 0 10 9 3 0 27
XIAP 16 0 5 2 5 0 27
ZDHHC9 5 1 10 7 4 0 27
DDX3X 18 8 1 0 0 0 26
KDM5C 19 5 1 0 0 1 26
ARX, LOC109610631 8 1 8 7 2 0 25
PDHB 2 0 14 1 8 0 25
PLP1, RAB9B 18 4 3 0 0 0 25
ZNF674 0 0 6 8 11 0 25
MID1 17 5 2 0 0 0 24
UPF3B 6 0 6 7 6 0 24
EFNB1 15 5 2 0 1 0 23
L1CAM 18 1 4 0 0 0 23
NDP 21 2 0 0 0 0 23
NDUFAF1 0 0 18 5 0 0 23
NYX 6 0 8 6 3 0 23
SH2D1A 18 3 1 0 1 0 23
DCX 18 3 1 0 0 0 22
SYP 4 0 4 12 2 0 22
AIFM1, RAB33A 6 15 2 1 0 0 21
ALAS2 21 0 0 0 0 0 21
CUL4B 8 2 7 2 2 0 21
FGD1 13 4 4 2 0 0 21
GJB2 16 2 3 0 0 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
CHM 15 3 1 0 0 0 19
FLNA, LOC107988032 1 0 12 1 5 0 19
HCFC1 6 0 5 2 6 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
ARSE 11 2 3 1 2 0 18
NAA10 12 6 0 0 0 0 18
PAK3 5 1 7 4 1 0 18
ATP6AP2 2 0 8 1 6 0 17
POU3F4 17 0 0 0 0 1 17
DCLRE1B 0 0 12 2 2 0 16
NDUFV2 0 0 13 2 1 0 16
PGK1 14 0 2 0 0 0 16
PTEN 4 1 11 0 0 0 16
USP9X 9 2 5 0 0 0 16
WIPF1 1 0 6 3 6 0 16
NSDHL 12 3 0 0 0 0 15
OPHN1 7 2 5 1 0 0 15
PQBP1 8 0 3 3 1 0 15
THOC2 6 4 6 0 0 0 15
ZIC3 2 0 5 9 0 0 15
CACNA1F 11 1 2 0 0 0 14
GPC3 10 3 1 0 0 0 14
NDUFS3 0 1 13 0 0 0 14
NDUFS8 0 0 13 0 1 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
GPR143 10 1 0 0 0 0 11
NDUFAF2 0 1 10 0 0 0 11
NDUFS7 0 0 9 2 0 0 11
TIMM8A 10 0 0 0 1 0 11
APIP, PDHX 0 0 4 0 6 0 10
DLG3 6 1 2 1 0 0 10
SMS 9 0 0 1 0 0 10
ATP2B3 1 0 1 1 6 0 9
CLCN4 7 1 1 0 0 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
RLIM 7 2 1 0 0 0 9
TAF1 6 1 2 0 0 0 9
AP1S2 8 0 0 0 0 0 8
IGSF1 5 0 0 0 3 0 8
NDUFS6 0 0 7 1 0 0 8
POF1B, ZNF711 0 0 0 4 4 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
RPGR 6 1 0 0 0 0 7
SHROOM4 2 0 3 2 0 0 7
SMPX 6 1 0 0 0 0 7
ACSL4 3 0 3 0 0 0 6
IKBKG 6 0 0 0 0 0 6
LIAS, LOC112939935 0 0 4 2 0 0 6
STS 6 0 0 0 0 0 6
UBE2A 5 1 0 0 0 0 6
ABCB7 4 1 0 0 0 0 5
COL4A3 0 0 5 0 0 0 5
COL4A5, COL4A6 4 1 0 0 0 0 5
EIF2S3 4 1 1 0 0 0 5
FTSJ1 4 0 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
ARHGEF6, CD40LG, GPR101, RBMX, VGLL1 2 2 0 0 0 0 4
ERCC8, NDUFAF2 0 0 1 1 2 0 4
FRMPD4 4 0 0 0 0 0 4
GDI1 4 0 0 0 0 0 4
MAP3K7 4 0 0 0 0 0 4
CLCN5 2 0 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
OGT 3 0 0 0 0 0 3
OPN1LW 3 0 0 0 0 0 3
RPL10 3 0 1 0 0 0 3
TSPAN7 3 0 0 1 0 0 3
WDR45 2 0 1 0 0 0 3
​intergenic 0 0 0 0 1 1 2
ARHGEF6, BRS3, CD40LG, GPR101, HTATSF1, RBMX, VGLL1 0 2 0 0 0 0 2
BGN 2 0 0 0 0 0 2
DNM2 2 0 0 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 2
FGD1, TSR2 0 1 1 0 0 0 2
FMR1, LOC107032825, LOC108684022 2 0 0 0 0 0 2
GJB6 1 0 1 0 0 0 2
GJC2 0 1 1 0 0 0 2
HPRT1, LOC107032760 2 0 0 0 0 0 2
IQSEC2, SMC1A 0 0 2 0 0 0 2
IRAK1, MECP2, MIR718 2 0 0 0 0 0 2
KIF4A 1 1 0 0 0 0 2
KLHL15 2 0 0 0 0 0 2
LOC112081413, NDUFS8 0 0 2 0 0 0 2
MID2 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
NLGN4X 2 0 0 0 0 0 2
OPN1MW 2 0 0 0 0 0 2
PLP1 2 0 0 0 0 0 2
PNPLA4, PUDP, STS, VCX 2 0 0 0 0 0 2
RBMX 1 1 0 0 0 0 2
RS1 2 0 0 0 0 0 2
SLC25A10 0 2 0 0 0 0 2
USP27X 2 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, 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, H2AP, H2BFWT, H2BM, 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, 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
AGTR2 0 0 0 1 0 0 1
AKAP14, ATP1B4, LAMP2, NDUFA1, NKAP, RHOXF1, RHOXF2, RHOXF2B, RNF113A, TMEM255A, UPF3B, ZBTB33 0 0 1 0 0 0 1
ALAS2, PAGE2B 1 0 0 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
ATG4A, COL4A5, COL4A6 0 1 0 0 0 0 1
ATP11C 1 1 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
CBLL2, PHEX, PTCHD1 1 0 0 0 0 0 1
CENPT, THAP11 0 1 0 0 0 0 1
CLIC2 1 0 0 0 0 0 1
CLIC2, RAB39B 1 0 0 0 0 0 1
COL4A6 1 0 0 0 0 0 1
CXorf56 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
EDA2R 0 0 1 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
HDAC6 1 0 0 0 0 0 1
HMGB3 1 0 0 0 0 0 1
IGBP1 1 0 0 0 0 0 1
IL1RAPL1, ZNF611 1 0 0 0 0 0 1
LIAS, LOC111365176, LOC112939935, RPL9, UGDH 0 0 1 0 0 0 1
LINC01560, ZNF41 0 0 1 0 0 0 1
LOC101928335, MID2 1 0 0 0 0 0 1
LOC106029240, LOC106029241, LOC113875037, MIR4767, MIR651, PNPLA4, PUDP, STS, VCX, VCX2, VCX3A 1 0 0 0 0 0 1
LOC106029240, LOC113875037, MIR4767, PUDP, STS, VCX3A 1 0 0 0 0 0 1
LOC106029241, LOC113875037, MIR4767, MIR651, PNPLA4, PUDP, STS, VCX, VCX2 1 0 0 0 0 0 1
LOC113875037, MIR4767, PNPLA4, PUDP, STS, VCX 1 0 0 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
OPN1LW, OPN1MW, OPSIN-LCR 1 0 0 0 0 0 1
PCDH19, SRPX2, TNMD, TSPAN6 1 0 0 0 0 0 1
PUDP, STS 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
ZDHHC15 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 170
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 268 45 817 416 509 0 2055
Illumina Clinical Services Laboratory,Illumina 0 3 944 412 196 0 1555
OMIM 1413 0 7 0 0 0 1420
ARUP Institute,ARUP Laboratories 739 3 13 4 19 0 778
RettBASE 458 15 148 1 0 0 622
Genetic Services Laboratory, University of Chicago 341 64 40 0 0 0 445
GeneReviews 245 0 0 0 15 0 260
Fulgent Genetics 49 9 86 0 0 0 144
Institute of Human Genetics,Klinikum rechts der Isar 124 8 1 0 0 0 133
Integrated Genetics/Laboratory Corporation of America 32 28 8 3 7 0 78
Baylor Genetics 44 6 22 0 0 0 72
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 5 38 28 0 72
Genomic Research Center,Shahid Beheshti University of Medical Sciences 17 16 34 4 0 0 71
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 31 24 14 0 0 0 69
Center for Human Genetics, Inc 23 17 17 4 0 0 61
UniProtKB/Swiss-Prot 0 0 0 0 0 54 54
Counsyl 7 29 6 0 0 0 42
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 9 19 0 5 0 0 33
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 31 0 0 0 1 0 32
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 16 7 5 2 1 0 31
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 27 2 0 0 1 0 30
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 12 16 1 0 0 0 29
HudsonAlpha Institute for Biotechnology 12 6 7 3 0 0 28
Molecular Diagnostics Laboratory,M Health: University of Minnesota 9 19 0 0 0 0 28
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 23 0 2 1 1 0 27
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 4 5 17 0 0 0 26
Laboratoire de Cytogenetique,Hospices Civils de Lyon 11 9 4 0 0 0 24
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 16 1 1 1 4 0 23
Center of Genomic medicine, Geneva,University Hospital of Geneva 16 3 2 0 0 0 21
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 10 9 1 0 0 0 20
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 17 3 0 0 0 20
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 4 14 0 0 1 0 19
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 10 7 0 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 2 12 0 0 0 17
Deafness Gene Diagnosis,Xijing Hospital 0 14 0 1 0 0 15
Athena Diagnostics Inc 10 0 0 0 4 0 14
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 8 3 2 0 0 0 13
Undiagnosed Diseases Network,NIH 8 5 0 0 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 13 13
GOLD service, Hunter New England Health 4 3 5 0 0 0 12
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 2 7 0 0 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
UCLA Clinical Genomics Center, UCLA 2 8 0 0 0 0 10
MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA 7 3 0 0 0 0 10
SIB Swiss Institute of Bioinformatics 1 5 3 0 1 0 10
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 2 6 0 0 0 10
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 6 1 2 0 0 0 9
Dobyns Lab,Seattle Children's Research Institute 7 2 0 0 0 0 9
Center for Human Genetics,University of Leuven 5 4 0 0 0 0 9
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 2 6 0 0 0 0 8
Genetic Diagnostic Laboratory,University of Szeged 7 1 0 0 0 0 8
Biochemistry Laboratory of CDMU,Chengde Medical University 4 4 0 0 0 0 8
Mendelics 6 1 0 0 0 0 7
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 2 3 0 0 0 7
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 6 0 0 0 7
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 3 3 1 0 0 0 7
Johns Hopkins Genomics,Johns Hopkins University 3 1 1 2 0 0 7
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 6 0 0 0 0 0 6
Medical Molecular Genetics,National Research Centre 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
Ege University Pediatric Genetics,Ege University 3 1 2 0 0 0 6
Genetics Division,Universidade Federal de Sao Paulo 5 1 0 0 0 0 6
Caldovic Lab,Children's National Health System 0 6 0 0 0 0 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 3 0 0 0 6
Institute of Human Genetics,Cologne University 2 2 1 0 0 0 5
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 2 0 0 0 0 5
TIDEX, University of British Columbia 3 1 1 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 3 2 0 0 0 5
Broad Institute Rare Disease Group,Broad Institute 0 3 2 0 0 0 5
GeneDx 1 0 1 0 2 0 4
Northcott Neuroscience Laboratory, ANZAC Research Institute 4 0 0 0 0 0 4
Department of Biochemistry,Quaid-i-Azam University 4 0 0 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 2 2 0 0 0 4
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 1 1 0 0 0 4
Biesecker Lab/Human Development Section,National Institutes of Health 0 3 0 0 0 0 3
Claritas Genomics 3 0 0 0 0 0 3
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 2 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 0 0 3
Molecular Genetics and RNA Biology,University of Milan 3 0 0 0 0 0 3
Institute of Cellular and Molecular Medicine,Copenhagen University 3 0 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 3 0 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
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 2
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 2 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 0 0 0 0 2
Reutter Lab, Institute of Human Genetics,University Hospital Bonn 1 0 1 0 0 0 2
GenePathDx,Causeway Health Care Private Ltd 2 0 0 0 0 0 2
Institute of Experimental Endocrinology,Slovak Academy of Sciences 1 0 1 0 0 0 2
Molecular Genetics and Enzymology,National Research Centre 2 0 0 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 1 1 0 0 0 0 2
Molecular Medicine Center, Medical University of Sofia 2 0 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
Center for Human Genetics Laboratory,University Hospitals - University Hospitals Laboratory Service Foundation 1 0 0 0 0 0 1
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 0 0 0 0 0 1
Keegan Laboratory,University of Michigan 0 0 1 0 0 0 1
Neurogenetics Research; Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 0 0 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 1 0 0 0 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
Centre for Genetic Disorders, Banaras Hindu University 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 Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 1
Department of Clinical Science, University of Bergen 0 1 0 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 1 0 0 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 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
Biochemical and Molecular Genetics Department, Hospital Clinic of Barcelona 1 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 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
Laboratory of Prof. Karen Avraham,Tel Aviv 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
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 0 1
Hereditary Research Laboratory,Bethlehem University 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
Human Genetics - Radboudumc,Radboudumc 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
Human Genetics Unit,University of Colombo 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
Hearing and Balance Clinic,First Affliiated Hospital of Kunming Medical University 1 0 0 0 0 0 1
Department of Laboratory Medicine,Daejeon St. Mary’s Hospital 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 1
Department of Immunology,University Hospital Southampton NHSFT 1 0 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 0 1 0 0 0 1
Pediatric Nephrology (Iijima Lab),Kobe University Graduate School of Medicine 1 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1
Hunan Clinical Research Center of Ophthalmic Disease,The Second Xiangya Hospital 1 0 0 0 0 0 1
Department of Laboratory Medicine, Kangbuk Samsung Hospital,Sungkyunkwan University School of Medicine 1 0 0 0 0 0 1
Edmonton Ocular Genetics,Alberta Health Services 1 0 0 0 0 0 1
Yong Feng Lab,Central South University 1 0 0 0 0 0 1
Degerman lab,Umeå University 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
Tehran Medical Genetics Laboratory 0 1 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
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 0 1 0 0 0 0 1
Laboratory of Molecular Genetics,Yakut Science Centre of Complex Medical Problems 1 0 0 0 0 0 1
Institute of Bioinformatics 0 1 0 0 0 0 1
Laboratory of Pediatric Immunoinfectivology,Tor Vergata University 1 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 1 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 0 1 0 0 0 0 1

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