ClinVar Miner

Variants studied for anomaly of puberty or/and menstrual cycle of genetic origin

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 risk factor other not provided total
2928 1228 8443 2572 1078 3 2 18 15350

Gene and significance breakdown #

Total genes and gene combinations: 416
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
ATM 736 276 2686 856 97 0 0 0 4413
ATM, C11orf65 417 184 1666 460 67 0 0 2 2667
CHD7 260 63 415 165 70 0 0 1 940
GALT 256 103 107 52 40 0 0 0 451
BBS10 73 75 160 76 17 0 0 0 351
BBS2 55 62 158 102 23 0 0 0 350
BBS9 34 5 184 57 40 0 0 0 298
BBS12 55 31 134 69 29 0 0 0 275
ASTN2, TRIM32 17 2 190 47 9 0 0 0 256
BBS1, ZDHHC24 42 32 110 56 14 0 0 1 229
WDPCP 9 4 158 46 15 0 0 0 215
HSD17B4 31 9 52 103 24 0 0 1 207
POLR3A 30 4 111 24 40 0 0 0 206
BBS4 32 15 103 34 28 0 0 0 198
RAB3GAP2 3 4 132 41 21 0 0 1 192
BBS7 27 13 110 18 15 0 0 0 174
SDCCAG8 15 9 111 30 11 0 0 0 167
MKKS 27 6 100 22 18 0 0 0 163
BTK 59 13 63 17 13 0 0 0 159
CEP290 12 4 118 6 19 0 0 0 158
BBS1 40 30 53 36 4 0 0 1 145
SEMA3E 1 0 92 36 13 0 0 0 142
TTC8 7 8 99 25 12 0 0 0 140
DCAF17 11 3 79 15 30 0 0 0 135
GNRHR 19 2 73 8 17 0 0 0 118
FOXL2 79 24 15 1 3 0 0 0 117
CYP19A1, MIR4713HG, PIRC66 9 3 72 10 25 0 0 0 115
MKS1 5 23 69 8 8 0 0 0 106
LOC101929710, PCSK1 6 2 78 6 4 0 0 0 96
STAR 15 21 57 6 3 0 0 0 94
LHX3 9 0 71 10 5 0 0 0 91
BBS5 21 8 34 11 10 0 0 0 84
NR0B1 71 5 5 0 3 0 0 0 81
PROP1 13 24 38 8 9 0 0 0 81
LEPR 4 0 58 6 7 0 0 0 75
LEP 2 1 62 6 3 0 0 0 74
GHRHR 10 5 41 4 9 0 0 0 69
ARL6 14 4 33 12 4 0 0 0 66
NOBOX 7 3 28 11 18 0 0 0 63
POLR3B 11 6 32 8 8 0 0 0 63
FSHR 6 8 42 4 4 0 0 0 62
​intergenic 3 0 1 0 55 0 0 0 59
POF1B 1 1 18 7 22 0 0 0 47
MAGEL2 18 9 17 1 1 0 0 1 46
CYP17A1 6 3 33 0 2 0 0 3 44
ACBD6, LHX4 5 0 15 7 11 0 0 1 39
POU1F1 17 5 16 0 1 0 0 1 39
HBB, LOC106099062, LOC107133510 30 1 7 0 2 0 0 1 38
POLR1C 31 1 5 0 0 0 0 0 34
HESX1 10 1 19 5 2 0 0 0 32
OTX2 1 0 23 3 5 0 0 0 32
GH-LCR, GH1 15 2 7 3 3 0 0 0 29
LOC100287944, POLR3B 0 1 23 0 5 0 0 0 29
BMP15 8 2 5 4 10 0 0 0 25
FIGLA 3 0 9 4 9 0 0 0 25
SMCHD1 20 0 4 0 0 0 0 0 24
LARS2 11 5 5 1 0 0 0 0 22
LHX4 2 0 12 5 4 0 0 0 22
FMR1 7 1 1 2 5 0 2 0 18
HBB, LOC107133510, LOC110006319 11 2 6 0 0 0 0 0 18
PNPLA6 10 2 4 0 0 0 0 0 16
DCAF17, METTL8 2 0 13 1 0 0 0 0 15
AKT3, SDCCAG8 0 1 10 1 1 0 0 0 12
FANCM 1 0 10 0 1 0 0 0 12
XRCC4 9 3 2 0 0 0 0 0 12
HARS2 4 7 1 0 0 0 0 0 11
RNF216 8 1 2 0 0 0 0 0 11
GH1 9 0 0 0 0 0 0 0 9
C12orf29, CEP290 0 0 7 1 0 0 0 0 8
ERCC6 3 0 5 0 0 0 0 0 8
FGFR1 0 8 0 0 0 0 0 0 8
H6PD 5 0 2 0 1 0 0 0 8
NR5A1 8 0 0 0 0 0 0 0 8
POF1B, ZNF711 0 0 0 4 4 0 0 0 8
CCDC170 0 2 5 0 0 0 0 0 7
CLPP 4 3 0 0 0 0 0 0 7
CYP19A1 1 0 5 0 1 0 0 0 7
HERC2 1 0 6 0 0 0 0 0 7
MCM8 5 0 2 0 0 0 0 0 7
STAG3 4 3 0 0 0 0 0 0 7
TMEM67 3 2 2 0 0 0 0 0 7
TWNK 5 1 1 0 0 0 0 0 7
HFM1 5 0 1 0 0 0 0 0 6
LEPR, LEPROT 0 0 4 1 1 0 0 0 6
MCM9 3 0 1 1 0 0 0 1 6
AKR1C2 4 0 0 0 1 0 0 0 5
BBS4, HIGD2B 0 0 2 0 3 0 0 0 5
CFAP418 2 2 1 0 0 0 0 0 5
CHMP2B, POU1F1 0 0 0 0 5 0 0 0 5
ESR1 3 1 1 0 0 1 0 1 5
LZTFL1 3 1 1 0 0 0 0 0 5
BBIP1 3 0 1 0 0 0 0 0 4
CYP17A1, LOC110408762 0 0 3 0 1 0 0 0 4
HS6ST1 0 1 1 3 0 0 0 0 4
HSD11B1 2 0 1 0 1 0 0 0 4
IFT74 2 2 1 0 0 0 0 1 4
IGSF10 0 0 4 0 0 0 0 0 4
LOC108863620, STAR 0 0 3 1 0 0 0 0 4
RBM28 2 1 1 0 0 0 0 0 4
SIM1 0 0 4 0 0 0 0 0 4
BNC1 1 1 1 0 0 0 0 0 3
CYP19A1, LOC110386951, MIR4713HG, PIRC66 0 0 2 0 1 0 0 0 3
DMXL2 1 0 2 0 0 0 0 0 3
IFT172 2 1 0 0 0 0 0 0 3
MRPS22 2 0 2 0 0 0 0 0 3
NDN 0 0 3 0 0 0 0 0 3
NSMCE2 2 0 1 0 0 0 0 0 3
RYR3 0 1 2 0 0 0 0 0 3
ALMS1 0 2 0 0 0 0 0 0 2
ARL6, EPHA6 1 0 1 0 0 0 0 0 2
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 2 0 0 0 0 0 0 0 2
ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 2 0 0 0 0 0 0 0 2
BBS9, RP9 0 0 2 0 0 0 0 0 2
CCDC141 0 0 2 0 0 0 0 0 2
CRIPT 2 0 0 0 0 0 0 0 2
CYP2E1, LOC110599585, SYCE1 0 1 0 0 1 0 0 0 2
DIAPH2 1 0 0 1 0 0 0 0 2
DPY19L2 0 0 0 0 2 0 0 0 2
ERAL1 1 0 1 0 0 0 0 0 2
ERCC6, ERCC6-PGBD3, PGBD3 2 0 0 0 0 0 0 0 2
FMR1, FRAXA, LOC107032825 2 0 0 0 0 0 0 0 2
GDF9 1 0 1 0 0 0 0 0 2
GLI1 0 0 2 0 0 0 0 0 2
IFT27 1 0 1 0 0 0 0 0 2
IFT27, LOC105373021 2 0 0 0 0 0 0 0 2
LRRC41, RAD54L 0 2 0 0 0 0 0 0 2
MLX, PSMC3IP 2 0 0 0 0 0 0 0 2
NOS3 0 2 0 0 0 0 0 0 2
POLR3A, RPS24 0 0 2 0 0 0 0 0 2
PSMC3IP 1 0 1 0 0 0 0 0 2
RALGAPB 0 2 0 0 0 0 0 0 2
RNPC3 2 0 0 0 0 0 0 0 2
SOHLH1 2 0 0 0 0 0 0 0 2
SOX3 2 0 0 0 0 0 0 0 2
WDR11 0 0 2 0 0 0 0 0 2
WDR19 0 0 2 0 0 0 0 0 2
WNT4 1 0 1 0 0 0 0 0 2
XRCC2 1 1 0 0 0 0 0 0 2
AADAC, AADACL2 0 0 0 0 1 0 0 0 1
AASDHPPT, ACAT1, ALG9, ALKBH8, AMOTL1, ANGPTL5, ANKRD49, ARHGAP20, ARHGAP42, ATM, BIRC2, BIRC3, BTG4, C11orf1, C11orf52, C11orf53, C11orf65, C11orf87, CARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, CCDC82, CEP126, CEP57, CFAP300, CNTN5, COLCA2, CRYAB, CUL5, CWC15, CWF19L2, DCUN1D5, DDI1, DDX10, DIXDC1, DLAT, DYNC2H1, ELMOD1, ENDOD1, EXPH5, FAM76B, FDX1, FDXACB1, FUT4, GRIA4, GUCY1A2, HOATZ, HSPB2, JRKL, KBTBD3, KDM4D, KDM4E, LAYN, LOC100128088, LOC728196, MAML2, MIR34B, MIR34C, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, MRE11, MSANTD4, MTMR2, NKAPD1, NPAT, PDGFD, PGR, PIH1D2, PIWIL4, POGLUT3, POU2AF1, PPP2R1B, RAB39A, RDX, SDHD, SESN3, SIK2, SLC35F2, SLN, SRSF8, TIMM8B, TMEM123, TMEM133, TRPC6, YAP1, ZC3H12C 1 0 0 0 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 0 0 1 0 0 0 0 0 1
ABCC4 0 0 0 0 1 0 0 0 1
ACACB, UNG 0 0 0 0 1 0 0 0 1
ACAT1, ATM, NPAT 0 0 1 0 0 0 0 0 1
ACAT1, CUL5, RAB39A, SLC35F2, SLN 0 0 0 0 1 0 0 0 1
ACKR3 0 0 1 0 0 0 0 0 1
ACSL4, AGTR2, AKAP14, ALG13, AMMECR1, AMOT, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ATG4A, ATP1B4, BEX1, BEX2, BEX3, BEX4, BEX5, BHLHB9, BTK, C1GALT1C1, CAPN6, CENPI, CHRDL1, CLDN2, COL4A5, COL4A6, CSTF2, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT83, CUL4B, DANT2, DCX, DNAAF6, DOCK11, DRP2, ESX1, FAM199X, FRMPD3, GLA, GLUD2, GPRASP1, GPRASP2, GUCY2F, H2BW1, H2BW2, HNRNPH2, HTR2C, IL13RA1, IL13RA2, IL1RAPL2, IRS4, KCNE5, KIAA1210, KLHL13, LAMP2, LHFPL1, LONRF3, LRCH2, LUZP4, MCTS1, MID2, MIR448, MORC4, MORF4L2, NDUFA1, NKAP, NKRF, NOX1, NRK, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, PAK3, PGRMC1, PLP1, PLS3, PRPS1, PSMD10, PWWP3B, RAB40A, RAB40AL, RAB9B, RADX, RBM41, RBMXL3, RHOXF1, RHOXF2, RHOXF2B, RIPPLY1, RNF113A, RNF128, RPL36A, RPL36A-HNRNPH2, RPL39, RTL4, RTL9, SEPTIN6, SERPINA7, SLC25A43, SLC25A5, SLC25A53, SLC6A14, SOWAHD, STEEP1, SYTL4, TAF7L, TBC1D8B, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TEX13A, TEX13B, TIMM8A, TMEM164, TMEM255A, TMEM31, TMEM35A, TMSB15A, TMSB15B, TRMT2B, TRPC5, TRPC5OS, TSC22D3, UBE2A, UPF3B, VSIG1, WDR44, XKRX, ZBTB33, ZCCHC12, ZCCHC18, ZMAT1 1 0 0 0 0 0 0 0 1
ADAMTS1 0 1 0 0 0 0 0 0 1
ADAMTS5 0 0 1 0 0 0 0 0 1
ADAMTS6 0 1 0 0 0 0 0 0 1
ADAMTSL3, AP3B2, BNC1, BTBD1, C15orf40, CPEB1, FSD2, HOMER2, RAMAC, SCARNA15, SH3GL3, TM6SF1, WHAMM 0 1 0 0 0 0 0 0 1
ADCY5, SEC22A 0 0 1 0 0 0 0 0 1
ADGB, GRM1, LOC101928661, LOC114004398, RAB32 1 0 0 0 0 0 0 0 1
ADORA2A, AIFM3, ARVCF, BCR, C22orf15, C22orf39, CABIN1, CCDC116, CDC45, CHCHD10, CLDN5, CLTCL1, COMT, CRKL, CRYBB2, CRYBB3, DDT, DDTL, DERL3, DGCR2, DGCR6, DGCR6L, DGCR8, DRICH1, ESS2, FAM230A, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GSC2, GSTT1, GSTT2, GSTT2B, GUCD1, HIC2, HIRA, IGLC1, IGLL1, IGLL5, KIAA1671, KLHL22, LRRC75B, LZTR1, MAPK1, MED15, MIF, MIR130B, MMP11, MRPL40, P2RX6, PI4KA, PIWIL3, PPIL2, PPM1F, PRAME, PRODH, RAB36, RANBP1, RGL4, RIMBP3, RIMBP3B, RIMBP3C, RSPH14, RTL10, RTN4R, SCARF2, SDF2L1, SEPTIN5, SERPIND1, SGSM1, SLC25A1, SLC2A11, SLC7A4, SMARCB1, SNAP29, SNRPD3, SPECC1L, SUSD2, TANGO2, TBX1, THAP7, TMEM191B, TMEM191C, TMEM211, TOP3B, TRMT2A, TSSK2, TXNRD2, UBE2L3, UFD1, UPB1, USP41, VPREB1, VPREB3, YDJC, YPEL1, ZDHHC8, ZNF280A, ZNF280B, ZNF70, ZNF74 0 0 0 0 1 0 0 0 1
AFDN, FRMD1, KIF25 0 0 0 0 1 0 0 0 1
AFF2 0 1 0 0 0 0 0 0 1
AFP 0 1 0 0 0 0 0 0 1
AGAP10, ANXA8L1, NPY4R 0 0 0 0 1 0 0 0 1
AGBL4, AGBL4-IT1, BEND5 0 0 1 0 0 0 0 0 1
AK3, CD274, CDC37L1, GLIS3, INSL4, INSL6, JAK2, MIR101-2, PDCD1LG2, PLGRKT, PLPP6, RCL1, RLN1, RLN2, SLC1A1, SPATA6L 0 0 0 0 1 0 0 0 1
AKR1C4 0 0 0 0 0 1 0 0 1
AKT3, CEP170, LINC01347, LOC110120698, MIR4677, PLD5, SDCCAG8 1 0 0 0 0 0 0 0 1
ALMS1, NAT8 1 0 0 0 0 0 0 0 1
AMACR, C1QTNF3, RAI14 0 0 1 0 0 0 0 0 1
AMY1A, AMY1B, AMY1C, AMY2A, AMY2B 0 0 0 0 1 0 0 0 1
ANKRD30B 0 0 0 0 1 0 0 0 1
ANKRD34A, ANKRD35, HJV, ITGA10, LIX1L, NBPF10, NOTCH2NLA, NUDT17, PDE4DIP, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 0 0 0 1 0 0 0 1
ANKS1B, UHRF1BP1L 0 0 0 0 1 0 0 0 1
ANOS1 0 1 0 0 0 0 0 0 1
AOPEP, FANCC 0 0 1 0 0 0 0 0 1
AOX1, BZW1, C2orf69, CLK1, FAM126B, FTCDNL1, KCTD18, MAIP1, NIF3L1, ORC2, PPIL3, SATB2, SGO2, SPATS2L, TYW5 0 0 1 0 0 0 0 0 1
APBA2, ARHGAP11A, ARHGAP11B, ATP10A, CHRFAM7A, CHRNA7, CYFIP1, FAM189A1, FAN1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8N, GOLGA8O, HERC2, IPW, KLF13, MAGEL2, MIR211, MKRN3, MTMR10, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, OR4M2, OR4N4, OTUD7A, POTEB, POTEB2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TRPM1, TUBGCP5, UBE3A 1 0 0 0 0 0 0 0 1
APBA2, FAM189A1, GOLGA8M, NSMCE3, TJP1 0 0 0 0 1 0 0 0 1
APP, CYYR1 0 0 1 0 0 0 0 0 1
AR, OPHN1 0 0 1 0 0 0 0 0 1
ARFGAP3, LOC112695101, LOC112695102, PACSIN2, TTLL1 0 0 1 0 0 0 0 0 1
ARL6, CRYBG3 0 1 0 0 0 0 0 0 1
ARNTL 0 0 1 0 0 0 0 0 1
ARPP21 0 0 0 0 1 0 0 0 1
ASAP1, CYRIB 0 0 0 0 1 0 0 0 1
ASB7, CERS3, LINS1 0 0 0 0 1 0 0 0 1
ASPHD1, CDIPT, KCTD13, KIF22, MAZ, MVP, PAGR1, PRRT2, SEZ6L2, TMEM219, ZG16 0 0 1 0 0 0 0 0 1
ASTN2, LOC107987014, LOC113839502, TRIM32 0 0 1 0 0 0 0 0 1
ATG2A 0 0 1 0 0 0 0 0 1
ATG7 0 0 1 0 0 0 0 0 1
ATG9B 0 1 0 0 0 0 0 0 1
ATM, NPAT 1 0 0 0 0 0 0 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 0 0 0 1
B3GAT1-DT 0 0 0 0 1 0 0 0 1
B3GNT5, MCF2L2 0 0 1 0 0 0 0 0 1
BBS1, DPP3, ZDHHC24 0 1 0 0 0 0 0 0 1
BCO1, PKD1L2 0 0 0 0 1 0 0 0 1
BICRA 0 0 0 0 1 0 0 0 1
BICRA, EHD2, NOP53, SELENOW, SNORD23, ZNF541 0 0 1 0 0 0 0 0 1
BLK, C8orf74, CLDN23, CTSB, DEFB130A, DEFB134, DEFB135, DEFB136, ERI1, FAM167A, FAM86B1, FDFT1, GATA4, MFHAS1, MIR124-1, MSRA, MTMR9, NEIL2, PINX1, PPP1R3B, PRSS51, PRSS55, RP1L1, SLC35G5, SOX7, TNKS, USP17L2, USP17L7, XKR6, ZNF705D 1 0 0 0 0 0 0 0 1
BMP6 0 1 0 0 0 0 0 0 1
BRCA2 1 0 0 0 0 0 0 0 1
BRD3 0 0 1 0 0 0 0 0 1
BRDT 1 0 0 0 0 0 0 0 1
BRWD1 0 1 0 0 0 0 0 0 1
C14orf39 1 0 0 0 0 0 0 0 1
C16orf72 0 0 0 0 1 0 0 0 1
C1QTNF6, IL2RB, SSTR3, TMPRSS6 0 0 1 0 0 0 0 0 1
C1QTNF9B, MIPEP, PCOTH, SACS, SGCG, SPATA13, TNFRSF19 0 0 0 0 1 0 0 0 1
C1orf87, CYP2J2, FGGY, HOOK1 0 0 1 0 0 0 0 0 1
C3 0 0 1 0 0 0 0 0 1
CADM2 0 0 0 0 1 0 0 0 1
CBWD1, DOCK8, FOXD4 0 0 0 0 1 0 0 0 1
CCDC115 0 0 0 0 1 0 0 0 1
CCDC28B 0 0 1 0 0 0 0 0 1
CD99, GYG2, XG 0 0 1 0 0 0 0 0 1
CDH19 0 0 0 0 1 0 0 0 1
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C-CDRT4 0 0 1 0 0 0 0 0 1
CENPL, DARS2, GAS5, KLHL20, RC3H1, SERPINC1, ZBTB37 0 0 1 0 0 0 0 0 1
CENPP, NOL8, OGN, OMD 0 0 1 0 0 0 0 0 1
CEP19 1 0 0 0 0 0 0 0 1
CFH, CFHR1, CFHR3, CFHR4 0 0 0 0 1 0 0 0 1
CFHR1, CFHR4 0 0 0 0 1 0 0 0 1
CGNL1 0 0 1 0 0 0 0 0 1
CHEK2 1 0 0 0 0 0 0 0 1
CHL1, CNTN4, CNTN6 0 0 1 0 0 0 0 0 1
CHN2 0 0 0 0 1 0 0 0 1
CHRNA7 0 0 0 0 1 0 0 0 1
CHST11 0 0 1 0 0 0 0 0 1
CHST5, TMEM231 0 0 0 0 1 0 0 0 1
CHSY1, SELENOS, SNRPA1 0 0 0 0 1 0 0 0 1
CLDN14, SGO2 1 0 0 0 0 0 0 0 1
CLEC4C, NANOG, NANOGNB, SLC2A14 0 0 0 0 1 0 0 0 1
CLNK, ZNF518B 0 0 1 0 0 0 0 0 1
COL26A1 0 0 0 0 1 0 0 0 1
COPB2, MRPS22 1 0 0 0 0 0 0 0 1
CSMD3, MIR2053 0 0 1 0 0 0 0 0 1
CST4 0 0 0 0 1 0 0 0 1
CT45A1, CT55, INTS6L, ZNF449, ZNF75D 0 0 0 0 1 0 0 0 1
CTNNA3 0 0 0 0 1 0 0 0 1
CYLC2 0 0 0 0 1 0 0 0 1
CYP19A1, LOC110386947 0 0 1 0 0 0 0 0 1
CYP2C19, LOC110599570, LOC111982881 0 0 0 0 1 0 0 0 1
DDX11 0 0 0 0 1 0 0 0 1
DDX53, PTCHD1 0 0 0 0 1 0 0 0 1
DEFB134, DEFB135, DEFB136 0 0 0 0 1 0 0 0 1
DGCR2, DGCR6, PRODH 0 0 0 0 1 0 0 0 1
DGCR6L, FAM230A, GGTLC3, KLHL22, MED15, RIMBP3, RTN4R, SCARF2, TMEM191B, USP41, ZNF74 0 0 0 0 1 0 0 0 1
DLEU7 0 0 0 0 1 0 0 0 1
DMC1 0 0 0 0 1 0 0 0 1
DMD 0 0 0 0 1 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR3915, MIR4666B, MIR6134, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 0 1
DMD, FTHL17, GK, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 0 1
DMRT3 0 1 0 0 0 0 0 0 1
DNA2 0 1 0 0 0 0 0 0 1
DNAH11, SP4 0 0 1 0 0 0 0 0 1
DNAH6 0 0 1 0 0 0 0 0 1
DOC2B, LINC02091, RPH3AL 0 0 1 0 0 0 0 0 1
DOCK8 0 0 0 0 1 0 0 0 1
DPPA2 0 1 0 0 0 0 0 0 1
EFL1, SAXO2 0 0 1 0 0 0 0 0 1
EHBP1, MDH1, OTX1, PELI1, UGP2, VPS54, WDPCP 0 0 1 0 0 0 0 0 1
EHF 0 0 0 0 1 0 0 0 1
EML5, PTPN21, SPATA7, TTC8, ZC3H14 0 0 1 0 0 0 0 0 1
EP300 0 1 0 0 0 0 0 0 1
ERCC4 0 0 1 0 0 0 0 0 1
ERCC6, ERCC6-PGBD3 1 0 0 0 0 0 0 0 1
ESR2 1 0 0 0 0 0 0 0 1
FAM120B, PDCD2, PSMB1, TBP 0 0 1 0 0 0 0 0 1
FANCA 0 1 0 0 0 0 0 0 1
FHIT 0 0 0 0 1 0 0 0 1
FMN2 0 0 1 0 0 0 0 0 1
FPR2, FPR3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF649, ZNF841 0 0 0 0 1 0 0 0 1
FYN 0 0 1 0 0 0 0 0 1
GALT, IL11RA, LOC121331325 1 0 0 0 0 0 0 0 1
GK2, NAA11 0 0 1 0 0 0 0 0 1
GOLGA8B 0 0 0 0 1 0 0 0 1
GOLPH3, PDZD2 0 0 0 0 1 0 0 0 1
GPR141 0 0 1 0 0 0 0 0 1
GPR17, LIMS2, MYO7B 0 0 0 0 1 0 0 0 1
GRAMD1C 0 0 0 0 1 0 0 0 1
GTF2H2C, LOC101928924, MARVELD2, OCLN, SNORD13B-1 0 0 0 0 1 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 0 0 0 1
HCN1 1 0 0 0 0 0 0 0 1
HS6ST3, MIR4501 0 0 0 0 1 0 0 0 1
HSF2BP 1 0 0 0 0 0 0 0 1
HTR1A 1 0 0 0 0 0 0 0 1
HTR2B, PSMD1 0 0 1 0 0 0 0 0 1
IGF2R 0 1 0 0 0 0 0 0 1
IGH, IGHA1, IGHD, IGHD3-3, IGHG1, IGHG3, IGHM, IGHV3-23 0 0 0 0 1 0 0 0 1
IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR4666B, NR0B1, TASL 1 0 0 0 0 0 0 0 1
IMMP2L 0 0 0 0 1 0 0 0 1
INHA 0 0 0 1 0 0 0 0 1
INSL6, JAK2 1 0 0 0 0 0 0 0 1
KANSL1 0 0 0 0 1 0 0 0 1
KCNAB2, NPHP4 0 1 0 0 0 0 0 0 1
KCNIP3, MAL, MRPS5, PROM2, TEKT4, ZNF2, ZNF514 0 0 1 0 0 0 0 0 1
KCNN2 0 0 0 0 1 0 0 0 1
KCNQ5, KHDC1L, LOC113175017 0 0 1 0 0 0 0 0 1
KDM6A 0 1 0 0 0 0 0 0 1
KDR 0 1 0 0 0 0 0 0 1
KHDRBS1 0 1 0 0 0 0 0 0 1
KMT2D 0 1 0 0 0 0 0 0 1
LEP, LOC106728418 0 0 0 1 0 0 0 0 1
LINC00871 0 0 0 0 1 0 0 0 1
LINC01237, LINC01238, LINC01880, LINC01881, LOC285097 0 0 0 0 1 0 0 0 1
LINC01541 0 0 0 0 1 0 0 0 1
LINC02018, LOC112935961 0 0 0 0 1 0 0 0 1
LINC02055 0 0 0 0 1 0 0 0 1
LINC02374, LOC339975 0 0 0 0 1 0 0 0 1
LINC02714 0 0 0 0 1 0 0 0 1
LINC02743, SPATA19 0 0 0 0 1 0 0 0 1
LINC02907 0 0 0 0 1 0 0 0 1
LINGO2 0 0 0 0 1 0 0 0 1
LOC106780824, MIR6817 0 0 0 0 1 0 0 0 1
LOC108281134, SOX3 0 0 1 0 0 0 0 0 1
LOC108410393, NR0B1 1 0 0 0 0 0 0 0 1
LOC110121330 0 0 0 0 1 0 0 0 1
LOC113687185 0 0 0 0 1 0 0 0 1
LOC116268429, LOC116268430, LOC116268431, SLC2A14, SLC2A3 0 0 0 0 1 0 0 0 1
LOC116276448 0 0 0 0 1 0 0 0 1
LRP2 0 0 0 0 1 0 0 0 1
LSM14A 0 0 0 0 1 0 0 0 1
MACROD2 0 0 0 0 1 0 0 0 1
MAP3K4 0 0 0 0 1 0 0 0 1
MARCHF4, MREG, PECR, TMEM169, XRCC5 0 0 1 0 0 0 0 0 1
MECOM 0 1 0 0 0 0 0 0 1
MIR12132, PATJ 0 0 1 0 0 0 0 0 1
MIR1267, NALF1 0 0 0 0 1 0 0 0 1
MLH3 0 1 0 0 0 0 0 0 1
MND1 0 1 0 0 0 0 0 0 1
MOV10 0 0 1 0 0 0 0 0 1
MSH2 0 0 0 0 0 0 0 1 1
MSH5, MSH5-SAPCD1 1 0 0 0 0 0 0 0 1
MSR1 0 0 0 0 1 0 0 0 1
MT1HL1, RYR2 0 0 1 0 0 0 0 0 1
MYC 0 0 1 0 0 0 0 0 1
NCAM2 0 0 0 0 1 0 0 0 1
NCKAP5 0 0 1 0 0 0 0 0 1
NLGN1 0 0 0 0 1 0 0 0 1
NOTCH2 0 1 0 0 0 0 0 0 1
NPHP1 1 0 0 0 0 0 0 0 1
NR5A2 0 1 0 0 0 0 0 0 1
NRXN1 0 0 0 1 0 0 0 0 1
NTRK1 0 1 0 0 0 0 0 0 1
NUP107 1 0 0 0 0 0 0 0 1
OR4A15, OR4C11, OR4C15, OR4C16, OR4C6, OR4P4, OR4S2 0 0 0 0 1 0 0 0 1
OR4F15, OR4F6, TARS3 0 0 0 0 1 0 0 0 1
OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3 0 0 0 0 1 0 0 0 1
OR8J1 0 0 0 0 1 0 0 0 1
OSBPL6 0 0 0 0 1 0 0 0 1
PADI6 0 0 1 0 0 0 0 0 1
PARD3 0 0 1 0 0 0 0 0 1
PARP4 0 0 0 0 1 0 0 0 1
PDE11A 0 0 0 1 0 0 0 0 1
PFKP, PITRM1, SNORD142 0 0 0 0 1 0 0 0 1
PLD5 0 0 0 0 1 0 0 0 1
PMM2 1 0 0 0 0 0 0 0 1
PNPLA4, PUDP, STS, VCX 0 0 1 0 0 0 0 0 1
PNPLA7 0 0 1 0 0 0 0 0 1
POC1A 0 1 0 0 0 0 0 0 1
POLG 0 1 0 0 0 0 0 0 1
POR 0 1 0 0 0 0 0 0 1
POTEB 0 0 0 0 1 0 0 0 1
PPP4R1, RALBP1 0 0 1 0 0 0 0 0 1
PRIM1 0 0 1 0 0 0 0 0 1
PRKD1 0 0 1 0 0 0 0 0 1
PRKN 0 0 0 0 1 0 0 0 1
PRLR 0 1 0 0 0 0 0 0 1
PROKR2 0 1 0 0 0 0 0 0 1
PRORP 0 1 0 0 0 0 0 0 1
PSG1, PSG11, PSG6, PSG7 0 0 0 0 1 0 0 0 1
PTGR1, ZNF483 0 0 1 0 0 0 0 0 1
PUF60 0 1 0 0 0 0 0 0 1
PWRN2 0 0 0 0 1 0 0 0 1
RAB19, SLC37A3 0 0 1 0 0 0 0 0 1
RAB3GAP1 1 0 0 0 0 0 0 0 1
RAD51C 0 1 0 0 0 0 0 0 1
RAD54L 1 0 0 0 0 0 0 0 1
REC8 0 0 1 0 0 0 0 0 1
RERE 0 1 0 0 0 0 0 0 1
REST 0 0 1 0 0 0 0 0 1
RICTOR 0 1 0 0 0 0 0 0 1
RIMS2 0 0 1 0 0 0 0 0 1
RYR1 0 0 1 0 0 0 0 0 1
SCARB1 0 0 1 0 0 0 0 0 1
SEMA5A, TAS2R1 0 0 1 0 0 0 0 0 1
SFPQ, ZMYM1 0 0 1 0 0 0 0 0 1
SGO2 1 0 0 0 0 0 0 0 1
SH2B1 0 1 0 0 0 0 0 0 1
SIRT6 0 1 0 0 0 0 0 0 1
SLC24A2 0 0 0 0 1 0 0 0 1
SNX8 0 0 1 0 0 0 0 0 1
SPATA4, WDR17 0 0 1 0 0 0 0 0 1
SYCE1 1 0 0 0 0 0 0 0 1
SYNE2 0 0 1 0 0 0 0 0 1
SYT6 0 0 0 0 1 0 0 0 1
TAC3 0 1 0 0 0 0 0 0 1
TACR3 0 1 0 0 0 0 0 0 1
TCERG1L 0 0 0 0 1 0 0 0 1
TG 0 0 1 0 0 0 0 0 1
THBS1 0 1 0 0 0 0 0 0 1
TMEM132D 0 0 0 0 1 0 0 0 1
TMEM59 0 0 0 0 0 1 0 0 1
TNFRSF1A 1 0 0 0 0 0 0 0 1
TOP3B 0 0 0 0 1 0 0 0 1
TRAPPC3 0 1 0 0 0 0 0 0 1
TRIM32 0 0 1 0 0 0 0 0 1
TRIML1, TRIML2, ZFP42 0 0 0 0 1 0 0 0 1
TSPAN7 0 0 0 0 1 0 0 0 1
UGT2B15 0 0 0 0 1 0 0 0 1
WHAMM 0 0 1 0 0 0 0 0 1
WT1 0 1 0 0 0 0 0 0 1
WWOX 0 0 0 0 1 0 0 0 1
XPNPEP2 0 0 1 0 0 0 0 0 1
ZFR2 0 0 1 0 0 0 0 0 1
ZNF462 0 1 0 0 0 0 0 0 1
ZNF626 0 0 0 0 1 0 0 0 1
ZNF630 0 0 0 0 1 0 0 0 1
ZNF716 0 0 0 0 1 0 0 0 1
ZNF92 0 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 192
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 1703 343 5783 2154 387 0 0 0 10370
Illumina Clinical Services Laboratory,Illumina 13 8 2092 280 502 0 0 0 2895
Counsyl 76 485 320 63 10 0 0 0 954
Natera, Inc. 90 8 447 61 93 0 0 0 699
OMIM 482 0 4 0 0 1 0 0 487
Mendelics 51 20 205 69 58 0 0 0 403
Research and Development, ARUP Laboratories 223 1 6 1 33 0 0 0 264
Baylor Genetics 119 18 122 0 0 0 0 0 259
Fulgent Genetics,Fulgent Genetics 78 12 136 1 0 0 0 0 227
Integrated Genetics/Laboratory Corporation of America 145 63 1 3 9 0 0 0 221
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 3 2 50 0 165 0 0 0 220
GeneReviews 106 0 0 0 24 0 0 0 130
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 64 11 19 1 8 0 0 0 103
Genetic Services Laboratory, University of Chicago 46 8 13 0 0 0 0 0 67
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 7 37 20 0 0 0 0 0 64
Centre for Mendelian Genomics,University Medical Centre Ljubljana 18 8 31 1 3 0 0 0 61
Institute of Human Genetics, Klinikum rechts der Isar 50 6 0 0 0 0 0 0 56
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 1 6 19 28 0 0 0 55
Genome Diagnostics Laboratory,University Medical Center Utrecht 4 0 2 17 29 0 0 0 52
Laboratory of Medical Genetics, INSERM 51 0 0 0 0 0 0 0 51
Wessex Regional Genetics Laboratory,Salisbury District Hospital 34 15 1 0 0 0 0 0 50
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 4 7 28 0 0 0 40
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 1 12 26 0 0 0 40
Myriad Women's Health, Inc. 10 28 0 0 0 0 0 0 38
MyeliNeuroGene Lab,McGill University Health Center Research Institute 35 0 0 0 0 0 0 0 35
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 20 9 1 1 0 0 0 0 31
Genomic Research Center, Shahid Beheshti University of Medical Sciences 9 6 13 1 0 0 0 0 29
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 11 3 4 2 8 0 0 0 28
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 8 2 14 1 1 0 0 0 26
Institute of Human Genetics, University of Leipzig Medical Center 11 2 11 1 1 0 0 0 26
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 18 0 5 1 0 0 0 0 24
Center for Human Genetics, Inc,Center for Human Genetics, Inc 5 7 5 2 1 0 0 0 20
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital 20 0 0 0 0 0 0 0 20
University of Washington Center for Mendelian Genomics, University of Washington 0 20 0 0 0 0 0 0 20
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 10 6 1 0 0 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 14 0 0 0 0 0 17
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 5 9 3 0 0 0 0 0 17
Endocrinology Clinic, Seth G.S. Medical College 9 7 0 0 0 0 0 0 16
Center for Human Disease Modeling,Duke University Medical Center 1 15 0 0 0 0 0 0 16
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 14 2 0 0 0 0 0 0 16
SBielas Lab, Department of Human Genetics,University of Michigan 15 0 0 0 0 0 0 0 15
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 10 3 1 0 0 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 0 0 14 14
Chan Lab,Boston Children's Hospital 0 13 0 0 0 0 0 0 13
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 10 0 3 0 0 0 0 0 13
Sharon lab,Hadassah-Hebrew University Medical Center 9 4 0 0 0 0 0 0 13
Broad Institute Rare Disease Group, Broad Institute 4 3 2 2 2 0 0 0 13
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 6 3 3 0 0 0 0 0 12
Division of Human Genetics,Children's Hospital of Philadelphia 8 2 1 0 0 0 0 0 11
Athena Diagnostics Inc 0 0 0 0 10 0 0 0 10
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 4 6 0 0 0 0 0 0 10
SIB Swiss Institute of Bioinformatics 1 3 2 1 3 0 0 0 10
Department of Medical Genetics, Faculty of Medicine,Ege University 9 0 0 0 0 0 0 0 9
Center of Genomic medicine, Geneva,University Hospital of Geneva 5 4 0 0 0 0 0 0 9
Molecular Genetics Laboratory,Institute for Ophthalmic Research 8 0 0 0 0 0 0 0 8
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 3 1 0 0 0 0 0 8
Laboratoire de Genetique Biologique, CHU de Poitiers 7 1 0 0 0 0 0 0 8
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 6 0 0 0 0 0 0 8
Sydney Genome Diagnostics,Children's Hospital Westmead 2 4 2 0 0 0 0 0 8
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 3 1 0 0 0 0 0 7
Department of Breast and Endocrine Surgery,Kumamoto University 0 2 5 0 0 0 0 0 7
Hadassah Hebrew University Medical Center 1 6 0 0 0 0 0 0 7
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 7 0 0 0 0 0 0 0 7
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 3 3 0 0 0 0 0 7
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 5 0 0 0 0 0 0 7
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 4 2 0 0 0 0 7
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 3 0 0 0 0 0 0 7
Genomic Medicine Lab, University of California San Francisco 5 2 0 0 0 0 0 0 7
Centogene AG - the Rare Disease Company 2 4 0 0 0 0 0 0 6
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 4 0 0 0 0 0 0 6
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 6 0 0 0 0 0 0 6
Human Genetics - Radboudumc,Radboudumc 4 0 2 0 0 0 0 0 6
Tolun Lab, Human Genetics Laboratory,Bogazici University 1 0 5 0 0 0 0 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 0 0 6
Clinical Genetics laboratory, University of Goettingen 3 2 0 0 0 0 0 0 5
Institute of Human Genetics,Cologne University 2 2 1 0 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 1 0 4 0 0 0 0 0 5
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 2 0 0 0 0 0 2 5
Department of Genetics,Sultan Qaboos University Hospital, Oman 4 1 0 0 0 0 0 0 5
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 3 2 0 0 0 0 0 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 3 0 0 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 3 0 2 0 0 0 0 0 5
Molecular Genetics Laboratory,University Hospital Copenhagen 0 5 0 0 0 0 0 0 5
Molecular Biology Laboratory, Fundació Puigvert 2 3 0 0 0 0 0 0 5
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 1 0 2 0 4
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 4 0 0 0 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 2 2 0 0 0 0 0 0 4
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 1 0 3 0 0 0 0 0 4
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 4 0 0 0 0 0 0 0 4
Reproductive Development, Murdoch Childrens Research Institute 1 3 0 0 0 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 1 0 1 0 0 0 4
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 2 1 0 0 0 0 0 4
Reproductive Health Research and Development,BGI Genomics 3 1 0 0 0 0 0 0 4
Autoinflammatory diseases unit,CHU de Montpellier 4 0 0 0 0 0 0 0 4
Lab of Endocrine and Metabolic Research,Istituto Auxologico Italiano 2 2 0 0 0 0 0 0 4
LifeCell International Pvt. Ltd 3 0 0 0 1 0 0 0 4
Elsea Laboratory,Baylor College of Medicine 1 1 1 0 0 0 0 0 3
Rajkovic Lab, University of Pittsburgh 2 0 0 0 0 0 0 1 3
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 2 0 0 0 0 0 0 3
Center for Medical Genetics Ghent,University of Ghent 3 0 0 0 0 0 0 0 3
Molecular Genetics and RNA Biology, Humanitas University 3 0 0 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 0 0 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 1 0 0 0 0 0 3
Undiagnosed Diseases Network,NIH 1 0 2 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 0 0 3
Institute of Reproductive and Stem Cell Engineering,Central South University 3 0 0 0 0 0 0 0 3
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 2 1 0 0 0 0 0 3
Breda Genetics srl 1 2 0 0 0 0 0 0 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 3 0 0 0 0 0 3
Department of Neurology,Kindai University 3 0 0 0 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 0 0 2
Shaikh Laboratory, University of Colorado 0 2 0 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 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
Center for Individualized Medicine,Mayo Clinic 1 1 0 0 0 0 0 0 2
National Institute on Deafness and Communication Disorders,National Institutes of Health 0 0 2 0 0 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 2 0 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 1 0 0 0 0 2
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 2 0 0 0 0 0 0 0 2
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 0 1 1 0 0 0 0 0 2
Laboratory of Molecular Genetics,National Institutes of Health 2 0 0 0 0 0 0 0 2
Department of Zoology,University of the Punjab, Lahore 0 0 0 0 0 2 0 0 2
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 0 1 0 0 0 0 0 2
GenePathDx,Causeway Health Care Private Ltd 0 2 0 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 2 0 0 0 0 0 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 2 0 0 0 0 0 2
The Translational Medicine Center of Children Development and Disease,Fudan University 2 0 0 0 0 0 0 0 2
Pediatric Genomics Discovery Program,Yale University 1 1 0 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 0 2
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 1 0 0 0 0 0 0 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 0 2 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 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
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 1 0 0 0 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 2 0 0 0 0 0 0 0 2
Reproductive Endocrine Unit, Massachusetts General Hospital 0 2 0 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 0 2
Nilou-Genome Lab 0 0 0 1 1 0 0 0 2
Department of Reproductive Endocrinology,Zhejiang Provincial People's Hospital 0 2 0 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 1 0 0 0 0 0 0 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 1 0 0 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 0 0 1
State Key Lab of Medical Genetics, Central South University 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 0 0 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 1 0 0 0 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 0 0 0 1
Human Molecular Genetics Lab,Quaid-I-Azam University 1 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 0 1
Research Centre for Medical Genetics 0 1 0 0 0 0 0 0 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 1 0 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 1 0 0 0 0 0 0 0 1
MIND Institute, Wet lab,University of California Davis 1 0 0 0 0 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences 1 0 0 0 0 0 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 0 0 1
Noncommunicable Diseases Research Center,Fasa University of Medical Sciences 1 0 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 0 0 1
Gujarat Genomics Initiative,Gujarat State Biotechnology Mission 1 0 0 0 0 0 0 0 1
David Buchner Laboratory,Case Western Reserve University 1 0 0 0 0 0 0 0 1
Fukami Lab, Dept of Molecular Endocrinology,National Research Institute for Child Health and Development 1 0 0 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 0 1
InterGenetics 1 0 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 0 1
Department of Pediatrics and Developmental Biology,Tokyo Medical and Dental University 0 0 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 1 0 0 0 0 0 0 0 1
Genetic Outpatient Clinic,Children's Memorial Health Institute 0 1 0 0 0 0 0 0 1
Neurology,Jichi Medical University 1 0 0 0 0 0 0 0 1
Dept. of Evolution and Genomic Sciences,University of Manchester 0 1 0 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 0 0 1
Genetics Department,Polish Mother's Memorial Hospital Research Institute 0 0 1 0 0 0 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 0 0 1
Genetics,Children's Hospital New Orleans 0 0 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 0 0 1 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 0 0 1
MedGen Diagnostic Laboratory,MedGen Medical Centre 1 0 0 0 0 0 0 0 1
Moosajee Lab,UCL Institute of Ophthalmology 0 0 1 0 0 0 0 0 1
Department of Medical Genetics,Faculty of Medicine, Istanbul University 1 0 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 0 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 0 0 1
Heon Lab,The Hospital for Sick Children 1 0 0 0 0 0 0 0 1
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 0 0 1
Department of Endocrinology, Metabolism and Genetics,Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University 0 1 0 0 0 0 0 0 1
Shieh Lab,University of California, San Francisco 0 0 1 0 0 0 0 0 1
Institute of Biomedical Sciences, Faculty of Medicine,Vilnius university 1 0 0 0 0 0 0 0 1

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