ClinVar Miner

Variants studied for X-linked disease

Included ClinVar conditions (304):
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
4279 782 2736 690 429 80 8775

Gene and significance breakdown #

Total genes and gene combinations: 300
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL4A5 804 56 33 5 20 1 907
MECP2 402 29 154 13 18 0 588
F8 277 24 13 1 16 0 328
FLNA 31 7 194 27 13 1 270
CDKL5 164 36 48 10 4 0 253
ABCD1 78 39 76 23 14 0 220
ATP7A 87 20 61 11 4 0 181
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
COL4A4 0 0 100 22 18 0 140
ATRX 25 8 87 14 3 1 136
PHEX 97 16 12 8 1 0 130
EDA 83 23 26 0 0 0 128
MED12 11 5 75 20 3 0 114
FOXG1 43 18 32 10 0 0 101
COL4A3, MFF-DT 0 1 59 23 14 0 97
IQSEC2 32 6 39 14 5 1 97
OTC 45 20 18 6 6 0 89
DLD 14 23 39 6 11 0 87
PHEX, PTCHD1 57 17 7 4 2 0 86
NEXMIF 32 1 43 4 5 1 85
NUBPL 7 2 57 9 4 1 78
BRWD3 5 3 27 23 16 0 74
ZNF81 0 0 25 31 18 0 74
NDUFA10 4 0 47 18 0 0 69
PDHX 11 2 29 12 17 1 69
WAS 42 6 17 2 1 0 68
HPRT1 60 2 4 1 0 0 67
OCRL 23 4 8 0 2 32 67
ARX 26 3 27 7 2 0 65
SLC6A8 28 1 26 4 1 9 63
EMD 28 1 31 2 0 0 62
PDHA1 39 11 11 1 0 0 60
BCOR 21 5 21 2 10 0 59
NDUFS1 10 2 32 13 2 0 58
CASK 39 15 4 0 1 0 57
GJB1 48 7 1 1 0 0 56
RPS6KA3 36 10 9 2 0 0 54
DKC1 45 2 0 3 0 23 52
DLAT 2 1 31 10 6 0 46
IDS 34 5 7 0 0 0 46
NDUFV1 5 5 32 3 0 1 45
PDP1 2 0 38 2 3 0 45
ARHGEF6 1 0 20 21 2 0 44
IDS, LOC106050102 33 9 1 1 2 0 44
LIAS 5 1 37 1 1 0 44
NDUFAF4 2 1 32 6 3 0 43
ARHGEF9 8 5 25 4 0 0 42
CD40LG 21 9 9 1 3 0 41
FOXRED1 4 2 33 2 1 0 41
NDUFS2 3 1 32 5 2 0 41
SLC9A6 15 4 16 3 4 0 41
ZNF41 0 0 10 24 7 0 41
PRPS1 21 2 9 7 2 0 40
CDKL5, RS1 15 8 9 4 3 0 39
DDX3X 27 13 1 0 0 0 39
SLC16A2 28 6 3 0 2 0 38
SYN1 6 4 23 5 1 0 38
HUWE1 13 18 8 1 1 0 36
TAF1 6 12 12 6 0 0 35
FANCB 0 0 11 19 6 0 34
AVPR2 24 2 4 0 1 1 32
KDM5C 19 10 3 0 0 1 32
CHM 24 3 2 0 2 0 31
XIAP 20 0 8 2 2 0 31
SLC25A38 0 0 21 6 3 0 30
ACD 2 1 25 0 2 0 29
IL1RAPL1 6 0 11 9 3 0 29
NHS 18 2 4 2 3 0 29
ARSL 12 2 6 1 8 0 28
PLP1, RAB9B 19 6 3 0 0 0 28
RAB39B 5 0 12 5 6 0 28
ZNF711 4 2 11 5 6 0 28
FGD1 17 4 6 2 0 0 27
L1CAM 20 3 4 0 0 0 27
NDUFAF1 4 0 18 5 1 0 27
SRPX2 1 1 23 3 0 0 27
PDHB 2 0 16 1 7 0 26
AIFM1, RAB33A 9 15 3 1 1 0 25
MID1 17 5 3 0 1 0 25
UPF3B 7 0 6 8 4 0 25
ZNF674 0 0 6 8 11 0 25
EFNB1 15 6 2 0 1 0 24
NDP 21 3 0 0 0 0 24
THOC2 6 5 14 0 0 0 24
ZDHHC9 5 1 11 6 1 0 24
ARX, LOC109610631 8 1 11 2 0 1 23
DCX 18 4 1 0 0 0 23
NDUFAF3 3 1 19 0 0 0 23
NYX 6 0 8 6 3 0 23
ALAS2 21 0 1 0 1 0 22
NDUFS8 7 1 13 0 1 0 22
POU3F4 18 0 0 1 3 1 22
SH2D1A 18 3 1 0 0 0 22
SYP 4 0 4 12 2 0 22
CUL4B 9 3 7 1 2 0 21
F9 10 10 1 0 0 0 21
GJB2 16 2 3 0 0 0 21
PAK3 5 3 8 4 1 0 21
DLAT, PIH1D2 1 0 13 3 3 0 20
NAA10 12 9 0 0 0 0 20
PHF6 15 2 3 0 0 0 20
HCFC1 6 0 11 2 0 0 19
NDUFS3 2 4 14 0 1 0 19
NDUFS4 6 0 8 2 3 1 19
PGK1 14 1 5 0 0 0 19
DCLRE1B 0 0 18 0 0 0 18
GRIA3 6 1 6 3 2 0 18
LAS1L 2 1 12 3 0 0 18
NDUFV2 2 0 13 2 2 0 18
NSDHL 12 4 0 0 1 0 17
PDK3 1 0 14 1 1 0 17
PQBP1 10 0 3 4 1 0 17
USP9X 10 2 5 0 0 0 17
CACNA1F 10 1 3 2 0 0 16
FLNA, LOC107988032 1 0 14 0 1 0 16
OPHN1 8 2 5 1 0 0 16
PTEN 4 1 11 0 0 0 16
NDUFS7 3 0 10 2 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
NDUFAF2 4 1 10 0 1 0 14
HSD17B10 8 2 3 0 0 0 13
NDUFS6 3 1 7 1 1 0 13
SMS 11 0 1 1 0 0 13
WIPF1 1 0 10 1 1 0 13
GPR143 10 1 0 1 0 0 12
PORCN 8 3 1 0 0 0 12
TIMM8A 10 1 0 0 1 0 12
ATP6AP2 2 0 8 0 1 0 11
CLCN4 7 3 1 0 0 0 11
IGSF1 8 0 0 0 3 0 11
APIP, PDHX 0 0 4 0 6 0 10
ATP2B3 1 0 2 1 6 0 10
DLG3 6 1 2 1 0 0 10
OGT 7 1 2 0 0 0 10
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
NDUFAF5 3 3 2 0 2 0 9
PHF8 5 1 1 1 0 1 9
RLIM 7 2 1 0 0 0 9
AP1S2 8 0 0 0 0 0 8
NDUFA11 1 0 7 0 0 0 8
NDUFAF6 7 0 0 1 0 0 8
POF1B, ZNF711 0 0 0 4 4 0 8
SHROOM4 2 0 5 2 0 0 8
STS 7 0 1 0 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
NDUFA2 0 0 5 2 0 0 7
NONO 7 0 0 0 0 0 7
RPGR 6 1 0 0 0 0 7
SMPX 6 1 0 0 0 0 7
UBE2A 5 2 0 0 0 0 7
ABCB7 4 1 1 0 0 0 6
ACSL4 3 0 3 0 0 0 6
EIF2S3 4 2 1 0 0 0 6
LIAS, LOC112939935 0 0 5 1 0 0 6
MSL3 5 1 0 0 0 0 6
NDUFA6 6 0 0 0 0 0 6
POLA1 5 1 0 0 0 0 6
COL4A3 0 0 5 0 0 0 5
COL4A5, COL4A6 4 1 0 0 0 0 5
ERCC8, NDUFAF2 1 0 1 1 2 0 5
FRMPD4 4 0 1 0 0 0 5
FTSJ1 4 0 1 0 0 0 5
HCCS 4 1 0 0 0 0 5
MAP3K7 4 1 0 0 0 0 5
NDUFB11 3 0 2 0 0 0 5
NKAP 5 0 0 0 0 0 5
PLP1 5 0 0 0 0 0 5
AMMECR1 3 1 0 0 0 0 4
COX7B 3 0 1 0 0 0 4
EMD, FLNA 0 0 4 0 0 0 4
GDI1 4 0 0 0 0 0 4
HNRNPH2, RPL36A-HNRNPH2 3 1 0 0 0 0 4
L1CAM, LCA10 0 0 0 1 3 0 4
NDUFA2, TMCO6 1 0 3 0 0 0 4
NDUFA9 2 0 2 0 0 0 4
NDUFAF8 4 0 0 0 0 0 4
NDUFB8 4 0 0 0 0 0 4
RPL10 3 1 1 0 0 0 4
TMEM126B 4 0 1 0 0 0 4
CLCN5 2 0 1 0 0 0 3
CNKSR2 3 0 0 0 0 0 3
HPRT1, LOC107032760 3 0 0 0 0 0 3
KIF4A 1 2 0 0 0 0 3
KLHL15 2 0 1 0 0 0 3
KLLN, PTEN 0 0 3 0 0 0 3
LINC00630, RAB40AL 0 0 2 0 1 0 3
LOC101928335, MID2 2 1 0 0 0 0 3
NDUFA1 2 0 1 1 0 1 3
NDUFA12 2 1 0 0 0 0 3
OPN1LW 3 0 0 0 0 0 3
TSPAN7 3 0 1 1 0 0 3
WDR45 2 0 1 0 0 0 3
​intergenic 0 0 0 0 1 1 2
ARHGEF6, CD40LG, GPR101, RBMX, VGLL1 2 1 0 0 0 0 2
ATP7A, PGAM4 0 0 0 1 1 0 2
BGN 2 0 0 0 0 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
FGD1, TSR2 0 1 1 0 0 0 2
FMR1, FRAXA, LOC107032825 2 0 0 0 0 0 2
GJB6 1 0 1 0 0 0 2
GJC2 0 1 1 0 0 0 2
IQSEC2, SMC1A 0 0 2 0 0 0 2
IRAK1, MECP2, MIR718 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
MTFMT 2 0 0 0 0 0 2
MTSS1, NDUFB9 0 0 0 0 2 0 2
NDUFB3 2 1 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
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
TIMMDC1 1 1 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, 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, ARHGAP4, AVPR2, DNASE1L1, EMD, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, RPL10, SRPK3, SSR4, TAZ, TEX28, TKTL1, TMEM187 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
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, AVPR2, EMD, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 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
ARHGEF6, BRS3, CD40LG, GPR101, HTATSF1, RBMX, VGLL1 0 1 0 0 0 0 1
ARMCX5-GPRASP2, GPRASP2 1 0 0 0 0 0 1
ARSJ, FOXG1 1 0 0 0 0 0 1
ARX, LOC110120595, LOC110120597, POLA1 0 0 1 0 0 0 1
ATG4A, COL4A5, COL4A6 0 1 0 0 0 0 1
ATP11C 1 1 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
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
DLD, LAMB1 0 0 0 0 1 0 1
DTD2, GPR33, HEATR5A, LOC101927124, NUBPL 1 0 0 0 0 0 1
EDA2R 0 0 1 0 0 0 1
ELANE 1 0 0 0 0 0 1
F8, F8A1, LOC106146150 0 0 0 1 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
HDAC6 1 0 0 0 0 0 1
HMGB3 1 0 0 0 0 0 1
HS6ST2 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
LMAN1 0 0 1 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 1 0 1
MT-ND4 1 0 0 0 0 0 1
NDUFA13 1 0 0 0 0 0 1
NDUFB9 1 0 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
SALL1 0 0 1 0 0 0 1
SERPINA1 1 0 0 0 0 0 1
SLC9A7 1 1 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: 203
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 392 76 1178 160 70 0 1876
Illumina Clinical Services Laboratory,Illumina 1 3 947 412 196 0 1559
OMIM 1537 0 7 0 0 0 1544
Research and Development, 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
Mendelics 128 82 43 36 47 0 336
GeneReviews 260 0 0 0 15 0 275
Institute of Human Genetics,Klinikum rechts der Isar 180 24 1 0 0 0 205
Fulgent Genetics,Fulgent Genetics 49 9 86 0 0 0 144
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 29 18 14 3 59 0 123
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 42 37 20 1 0 0 100
Genomic Research Center, Shahid Beheshti University of Medical Sciences 18 16 52 4 0 0 90
Baylor Genetics 52 12 24 0 0 0 88
Integrated Genetics/Laboratory Corporation of America 32 28 8 3 7 0 78
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 5 38 28 0 72
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 50 18 1 0 0 0 69
Center for Human Genetics, Inc 23 17 17 4 0 0 61
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 20 33 1 5 0 0 59
UniProtKB/Swiss-Prot 0 0 0 0 0 54 54
Counsyl 9 33 8 0 0 0 50
Génétique des Maladies du Développement, Hospices Civils de Lyon 21 15 6 0 0 0 42
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 16 7 13 3 0 0 39
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 5 18 13 0 0 0 36
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
Molecular Diagnostics Laboratory, M Health: University of Minnesota 9 20 0 0 0 0 29
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 23 0 2 1 1 0 27
Johns Hopkins Genomics,Johns Hopkins University 12 5 8 2 0 0 27
Genome Medicine,Institute for Basic Research in Developmental Disabilities 0 11 10 6 0 0 27
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 4 5 17 0 0 0 26
NIHR Bioresource Rare Diseases, University of Cambridge 10 15 1 0 0 0 26
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 17 3 2 0 0 0 22
GOLD service, Hunter New England Health 4 3 13 0 0 0 20
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 17 3 0 0 0 20
Broad Institute Rare Disease Group,Broad Institute 3 11 6 0 0 0 20
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 4 14 0 0 1 0 19
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 11 5 2 0 0 0 18
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 10 7 0 0 0 0 17
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 7 2 0 0 0 17
SIB Swiss Institute of Bioinformatics 2 10 4 0 1 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 2 11 0 0 0 16
Deafness Gene Diagnosis,Xijing Hospital 0 14 0 1 0 0 15
Undiagnosed Diseases Network,NIH 10 5 0 0 0 0 15
GenomeConnect, ClinGen 0 0 0 0 0 15 15
Athena Diagnostics Inc 10 0 0 0 4 0 14
Genomic Medicine Lab, University of California San Francisco 6 2 4 0 0 0 12
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 7 0 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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 2 6 0 0 0 10
GenomeConnect-Association for Creatine Deficiencies 0 0 0 0 0 10 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
Sharon lab,Hadassah-Hebrew University Medical Center 7 2 0 0 0 0 9
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 9 0 0 0 0 0 9
Institute of Human Genetics,Cologne University 3 4 1 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
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
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 7 0 0 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 3 1 0 0 0 7
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 6 0 0 0 0 0 6
Medical Molecular Genetics Department, National Research Center 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
Leiden Open Variation Database 0 0 0 6 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
Daan van Aalten Lab,University of Dundee 5 0 1 0 0 0 6
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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 3 1 1 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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 1 0 0 0 0 4
San Raffaele Telethon Institute for Gene Therapy,San Raffaele Hospital 4 0 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
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
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
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 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
Laboratory of Prof. Karen Avraham,Tel Aviv University 2 0 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
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
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 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
Zeviani Lab,University of Cambridge 2 0 0 0 0 0 2
Felix Claverie-Martin Laboratory,Hospital Universitario Nuestra Senora de Candelaria 2 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 0 2 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 1 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-SOLVE, 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
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 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
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
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
FAHD UNIT, Department of Genetics,King Faisal Specialist Hospital and Research Centre 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
Kariminejad - Najmabadi Pathology & Genetics Center 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
Pediatric Neurology,Northwest Women’s and Children’s Hospital 1 0 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
Faculty of Allied and Health Sciences,Imperial College of Business Studies 1 0 0 0 0 0 1
Medical Genome Center,National Center of Neurology and Psychiatry 0 1 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
St George's Genomics Service,St George's University Hospitals NHS FT 1 0 0 0 0 0 1

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