ClinVar Miner

Variants studied for anomaly of puberty or/and menstrual cycle

Included ClinVar conditions (137):
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 not provided total
1670 767 3587 1050 583 3 12 7204

Gene and significance breakdown #

Total genes and gene combinations: 308
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
ATM 311 188 1358 455 62 0 0 2253
ATM, C11orf65 182 128 808 243 24 0 2 1319
CHD7 158 25 186 63 62 0 1 452
GALT 233 72 60 5 35 0 0 329
BBS10 38 63 62 10 7 0 0 162
BBS2 28 36 63 21 10 0 0 135
BBS12 18 27 53 20 22 0 0 118
FOXL2 79 22 14 1 3 0 0 116
BBS9 24 3 45 27 25 0 0 108
RAB3GAP2 2 1 82 18 6 0 0 105
CEP290 12 2 75 7 4 0 0 100
BBS1, ZDHHC24 24 22 46 5 8 0 0 94
ASTN2, TRIM32 4 1 65 9 3 0 0 80
MKS1 5 20 47 7 1 0 0 77
BBS4 21 5 27 10 17 0 0 76
DCAF17 9 1 43 10 15 0 0 76
NR0B1 67 3 2 0 0 0 0 70
MKKS 16 2 31 10 10 0 0 67
BBS7 15 3 33 6 10 0 0 63
WDPCP 2 0 46 11 7 0 0 61
​intergenic 1 0 1 0 56 0 0 58
LOC101929710, PCSK1 4 0 41 10 0 0 0 55
CYP19A1, MIR4713HG, PIRC66 9 0 26 8 8 0 0 51
HSD17B4 8 4 24 9 8 0 1 49
BBS1 12 21 11 6 3 0 1 46
LEP 2 1 33 8 1 0 0 45
PROP1 12 24 9 1 2 0 0 43
SDCCAG8 6 3 26 3 6 0 0 42
NOBOX 6 0 13 16 4 0 0 38
STAR 15 20 6 0 0 0 0 38
TTC8 4 0 23 6 6 0 0 36
LEPR 3 0 22 3 6 0 0 33
POF1B 1 1 8 14 8 0 0 31
SIM1 0 0 22 5 4 0 0 31
BBS5 12 6 3 2 7 0 0 30
SEMA3E 1 0 18 1 7 0 0 27
ARL6 7 2 10 3 2 0 0 23
POU1F1 17 3 1 0 1 0 1 22
GNRHR 18 1 2 0 0 0 0 21
POLR3A 18 1 3 0 0 0 0 21
HESX1 10 1 8 1 1 0 0 20
SMCHD1 20 0 0 0 0 0 0 20
MAGEL2 13 1 4 1 0 0 0 19
FIGLA 3 0 6 3 4 0 0 16
POLR3B 10 3 2 0 0 0 0 15
HBB, LOC106099062, LOC107133510 11 1 0 0 1 0 1 14
LHX3 9 0 4 1 0 0 0 14
PNPLA6 10 2 2 0 0 0 0 14
LARS2 8 3 1 1 0 0 0 13
FSHR 6 6 0 0 0 0 0 11
POLR1C 8 1 2 0 0 0 0 11
CYP17A1 5 1 1 0 0 0 2 9
HARS2 2 7 1 0 0 0 0 9
NR5A1 9 0 1 0 0 0 0 9
XRCC4 9 0 0 0 0 0 0 9
ACBD6, LHX4 5 0 1 0 1 0 1 8
DCAF17, METTL8 2 0 6 0 0 0 0 8
ERCC6 3 0 5 0 0 0 0 8
FGFR1 0 8 0 0 0 0 0 8
POF1B, ZNF711 0 0 0 4 4 0 0 8
RNF216 7 1 0 0 0 0 0 8
AKT3, SDCCAG8 0 0 6 0 1 0 0 7
CCDC170 0 2 5 0 0 0 0 7
FMR1 7 0 0 0 0 0 0 7
TMEM67 3 2 2 0 0 0 0 7
BMP15 5 0 1 0 0 0 0 6
C12orf29, CEP290 0 0 5 1 0 0 0 6
H6PD 5 0 1 0 0 0 0 6
BBS4, HIGD2B 0 0 2 2 1 0 0 5
CYP19A1 1 0 3 1 0 0 0 5
ESR1 3 1 1 0 0 1 1 5
HBB, LOC107133510, LOC110006319 3 0 2 0 0 0 0 5
HFM1 4 0 1 0 0 0 0 5
SOX9 5 0 0 0 0 0 0 5
TWNK 5 0 0 0 0 0 0 5
AKR1C2 4 0 0 0 0 0 0 4
CLPP 4 0 0 0 0 0 0 4
LEPR, LEPROT 0 0 3 0 1 0 0 4
LZTFL1 3 0 1 0 0 0 0 4
MCM9 3 0 0 0 0 0 1 4
C8orf37 2 0 1 0 0 0 0 3
CASTOR3, STAG3 3 0 0 0 0 0 0 3
HSD11B1 2 0 1 0 0 0 0 3
LHX4 2 0 1 0 0 0 0 3
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 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 2
BBIP1 1 0 1 0 0 0 0 2
CYP2E1, LOC110599585, SYCE1 0 1 0 0 1 0 0 2
DPY19L2 0 0 0 0 2 0 0 2
ERCC6, ERCC6-PGBD3, PGBD3 2 0 0 0 0 0 0 2
FMR1, LOC107032825, LOC108684022 2 0 0 0 0 0 0 2
IFT27, LOC105373021 2 0 0 0 0 0 0 2
IFT74 2 1 0 0 0 0 0 2
MRPS22 2 0 0 0 0 0 0 2
NSMCE2 2 0 0 0 0 0 0 2
RALGAPB 0 2 0 0 0 0 0 2
SOHLH1 2 0 0 0 0 0 0 2
SOX3 2 0 0 0 0 0 0 2
WNT4 1 0 1 0 0 0 0 2
AADAC, AADACL2 0 0 0 0 1 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 1
ABCC4 0 0 0 0 1 0 0 1
ACACB, UNG 0 0 0 0 1 0 0 1
ACAT1, CUL5, RAB39A, SLC35F2, SLN 0 0 0 0 1 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, CXorf56, DANT2, DCX, DOCK11, DRP2, ESX1, FAM199X, FRMPD3, GLA, GLRA4, GLUD2, GPRASP1, GPRASP2, GUCY2F, H2BFM, H2BFWT, 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, PIH1D3, 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, 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 1
ADAMTSL3, AP3B2, BNC1, BTBD1, C15orf40, CPEB1, FSD2, HOMER2, RAMAC, SCARNA15, SH3GL3, TM6SF1, WHAMM 0 1 0 0 0 0 0 1
ADCY5, SEC22A 0 0 1 0 0 0 0 1
ADGB, GRM1, LOC101928661, LOC114004398, RAB32 1 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, LOC100286925, LRP5L, 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 1
AFDN, FRMD1, KIF25 0 0 0 0 1 0 0 1
AGAP10, ANXA8L1, NPY4R 0 0 0 0 1 0 0 1
AGBL4, AGBL4-IT1, BEND5, LOC101929721 0 0 1 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 1
AKR1C4 0 0 0 0 0 1 0 1
ALMS1 0 1 0 0 0 0 0 1
ALMS1, NAT8 1 0 0 0 0 0 0 1
AMACR, C1QTNF3, RAI14 0 0 1 0 0 0 0 1
AMY1A, AMY1B, AMY1C, AMY2A, AMY2B 0 0 0 0 1 0 0 1
ANKRD30B 0 0 0 0 1 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 1
ANKS1B, UHRF1BP1L 0 0 0 0 1 0 0 1
ANOS1 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 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 1
APBA2, FAM189A1, GOLGA8M, NSMCE3, TJP1 0 0 0 0 1 0 0 1
APP, CYYR1 0 0 1 0 0 0 0 1
AR, OPHN1 0 0 1 0 0 0 0 1
ARFGAP3, LOC100506679, LOC112695101, LOC112695102, PACSIN2, TTLL1 0 0 1 0 0 0 0 1
ARL6, CRYBG3 0 1 0 0 0 0 0 1
ARPP21 0 0 0 0 1 0 0 1
ASAP1, FAM49B 0 0 0 0 1 0 0 1
ASB7, CERS3, LINS1 0 0 0 0 1 0 0 1
ASPHD1, CDIPT, KCTD13, KIF22, MAZ, MVP, PAGR1, PRRT2, SEZ6L2, TMEM219, ZG16 0 0 1 0 0 0 0 1
ASTN2, LOC113839502, TRIM32 0 0 1 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 1
B3GNT5, MCF2L2 0 0 1 0 0 0 0 1
BBS1, DPP3, ZDHHC24 0 1 0 0 0 0 0 1
BCO1, PKD1L2 0 0 0 0 1 0 0 1
BICRA 0 0 0 0 1 0 0 1
BICRA, EHD2, NOP53, SELENOW, SNORD23, ZNF541 0 0 1 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 1
C16orf72 0 0 0 0 1 0 0 1
C1QTNF6, IL2RB, SSTR3, TMPRSS6 0 0 1 0 0 0 0 1
C1QTNF9B, MIPEP, PCOTH, SACS, SGCG, SPATA13, TNFRSF19 0 0 0 0 1 0 0 1
C1orf87, CYP2J2, FGGY, HOOK1 0 0 1 0 0 0 0 1
C9orf62 0 0 0 0 1 0 0 1
CADM2 0 0 0 0 1 0 0 1
CBWD1, DOCK8, FOXD4 0 0 0 0 1 0 0 1
CCDC115 0 0 0 0 1 0 0 1
CCDC28B 0 0 1 0 0 0 0 1
CD99, GYG2, XG 0 0 1 0 0 0 0 1
CDH19 0 0 0 0 1 0 0 1
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C-CDRT4 0 0 1 0 0 0 0 1
CENPL, DARS2, GAS5, KLHL20, RC3H1, SERPINC1, ZBTB37 0 0 1 0 0 0 0 1
CENPP, NOL8, OGN, OMD 0 0 1 0 0 0 0 1
CEP19 1 0 0 0 0 0 0 1
CFH, CFHR1, CFHR3, CFHR4 0 0 0 0 1 0 0 1
CFHR1, CFHR4 0 0 0 0 1 0 0 1
CGNL1 0 0 1 0 0 0 0 1
CHL1, CNTN4, CNTN6 0 0 1 0 0 0 0 1
CHN2 0 0 0 0 1 0 0 1
CHRNA7 0 0 0 0 1 0 0 1
CHST11 0 0 1 0 0 0 0 1
CHST5, TMEM231 0 0 0 0 1 0 0 1
CHSY1, SELENOS, SNRPA1 0 0 0 0 1 0 0 1
CLDN14, SGO2 1 0 0 0 0 0 0 1
CLEC4C, NANOG, NANOGNB, SLC2A14 0 0 0 0 1 0 0 1
CLNK, ZNF518B 0 0 1 0 0 0 0 1
COL26A1 0 0 0 0 1 0 0 1
COPB2, MRPS22 1 0 0 0 0 0 0 1
CSMD3, MIR2053 0 0 1 0 0 0 0 1
CST4 0 0 0 0 1 0 0 1
CT45A1, CT55, INTS6L, ZNF449, ZNF75D 0 0 0 0 1 0 0 1
CTNNA3 0 0 0 0 1 0 0 1
CXorf21, DMD, FTHL17, GK, IL1RAPL1, LOC108410393, LOC113875019, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR3915, MIR4666B, MIR6134, NR0B1, TAB3 1 0 0 0 0 0 0 1
CXorf21, DMD, FTHL17, GK, LOC108410393, LOC113875019, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3 1 0 0 0 0 0 0 1
CXorf21, IL1RAPL1, LOC108410393, LOC113875019, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR4666B, NR0B1 1 0 0 0 0 0 0 1
CYLC2 0 0 0 0 1 0 0 1
CYP2C19, LOC110599570, LOC111982881 0 0 0 0 1 0 0 1
DDX11 0 0 0 0 1 0 0 1
DDX53, PTCHD1 0 0 0 0 1 0 0 1
DEFB134, DEFB135, DEFB136 0 0 0 0 1 0 0 1
DGCR2, DGCR6, PRODH 0 0 0 0 1 0 0 1
DGCR6L, FAM230A, GGTLC3, KLHL22, MED15, RIMBP3, RTN4R, SCARF2, TMEM191B, USP41, ZNF74 0 0 0 0 1 0 0 1
DIAPH2 1 0 0 0 0 0 0 1
DLEU7 0 0 0 0 1 0 0 1
DMD 0 0 0 0 1 0 0 1
DMXL2 1 0 0 0 0 0 0 1
DNAH11, SP4 0 0 1 0 0 0 0 1
DOC2B, LINC02091, RPH3AL 0 0 1 0 0 0 0 1
DOCK8 0 0 0 0 1 0 0 1
EFL1, SAXO2 0 0 1 0 0 0 0 1
EHF 0 0 0 0 1 0 0 1
ERAL1 1 0 0 0 0 0 0 1
ERCC4 0 0 1 0 0 0 0 1
ERCC6, ERCC6-PGBD3 1 0 0 0 0 0 0 1
FAM120B, PDCD2, PSMB1, TBP 0 0 1 0 0 0 0 1
FAM155A, MIR1267 0 0 0 0 1 0 0 1
FHIT 0 0 0 0 1 0 0 1
FMN2 0 0 1 0 0 0 0 1
FPR2, FPR3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF649, ZNF841 0 0 0 0 1 0 0 1
GALT, IL11RA 1 0 0 0 0 0 0 1
GK2, NAA11 0 0 1 0 0 0 0 1
GLI1 0 0 1 0 0 0 0 1
GOLGA8B 0 0 0 0 1 0 0 1
GOLPH3, PDZD2 0 0 0 0 1 0 0 1
GPR141 0 0 1 0 0 0 0 1
GPR17, LIMS2, MYO7B 0 0 0 0 1 0 0 1
GRAMD1C 0 0 0 0 1 0 0 1
GTF2H2C, LOC101928924, MARVELD2, OCLN, SNORD13B-1 0 0 0 0 1 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 0 0 1
HERC2 0 0 1 0 0 0 0 1
HS6ST1 0 1 0 0 0 0 0 1
HS6ST3, MIR4501 0 0 0 0 1 0 0 1
HTR2B, PSMD1 0 0 1 0 0 0 0 1
IFT27 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 1
IMMP2L 0 0 0 0 1 0 0 1
KANSL1 0 0 0 0 1 0 0 1
KCNAB2, NPHP4 0 1 0 0 0 0 0 1
KCNIP3, MAL, MRPS5, PROM2, TEKT4, ZNF2, ZNF514 0 0 1 0 0 0 0 1
KCNN2 0 0 0 0 1 0 0 1
KCNQ5, KHDC1L, LOC113175017 0 0 1 0 0 0 0 1
LEP, LOC106728418 0 0 0 1 0 0 0 1
LINC00871 0 0 0 0 1 0 0 1
LINC01237, LINC01238, LINC01880, LINC01881, LOC285097 0 0 0 0 1 0 0 1
LINC01541 0 0 0 0 1 0 0 1
LINC02018, LOC112935961 0 0 0 0 1 0 0 1
LINC02055 0 0 0 0 1 0 0 1
LINC02374, LOC339975 0 0 0 0 1 0 0 1
LINC02714 0 0 0 0 1 0 0 1
LINC02743, SPATA19 0 0 0 0 1 0 0 1
LINGO2 0 0 0 0 1 0 0 1
LOC100287944, POLR3B 0 1 0 0 0 0 0 1
LOC106780824, LRP5L, MIR6817 0 0 0 0 1 0 0 1
LOC108410393, NR0B1 1 0 0 0 0 0 0 1
LOC110121330 0 0 0 0 1 0 0 1
LOC113687185 0 0 0 0 1 0 0 1
LOC283177 0 0 0 0 1 0 0 1
LRP2 0 0 0 0 1 0 0 1
LRP5L 0 0 0 0 1 0 0 1
LSM14A 0 0 0 0 1 0 0 1
MACROD2 0 0 0 0 1 0 0 1
MAP3K4 0 0 0 0 1 0 0 1
MARCH4, MREG, PECR, TMEM169, XRCC5 0 0 1 0 0 0 0 1
MIR12132, PATJ 0 0 1 0 0 0 0 1
MSR1 0 0 0 0 1 0 0 1
MT1HL1, RYR2 0 0 1 0 0 0 0 1
NCAM2 0 0 0 0 1 0 0 1
NCKAP5 0 0 1 0 0 0 0 1
NDN 0 0 1 0 0 0 0 1
NLGN1 0 0 0 0 1 0 0 1
NPHP1 1 0 0 0 0 0 0 1
NRXN1 0 0 0 1 0 0 0 1
NUP107 1 0 0 0 0 0 0 1
OR4A15, OR4C11, OR4C15, OR4C16, OR4C6, OR4P4, OR4S2 0 0 0 0 1 0 0 1
OR4F15, OR4F6, TARSL2 0 0 0 0 1 0 0 1
OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3 0 0 0 0 1 0 0 1
OSBPL6 0 0 0 0 1 0 0 1
OTX2 1 0 0 0 0 0 0 1
PARP4 0 0 0 0 1 0 0 1
PCSK1 1 0 0 0 0 0 0 1
PFKP, PITRM1, SNORD142 0 0 0 0 1 0 0 1
PLD5 0 0 0 0 1 0 0 1
PNPLA4, PUDP, STS, VCX 0 0 1 0 0 0 0 1
POTEB 0 0 0 0 1 0 0 1
PPP4R1, RALBP1 0 0 1 0 0 0 0 1
PRKN 0 0 0 0 1 0 0 1
PROKR2 0 1 0 0 0 0 0 1
PSG1, PSG11, PSG6, PSG7 0 0 0 0 1 0 0 1
PSMC3IP 1 0 0 0 0 0 0 1
PTGR1, ZNF483 0 0 1 0 0 0 0 1
PWRN2 0 0 0 0 1 0 0 1
RAB19, SLC37A3 0 0 1 0 0 0 0 1
RAB3GAP1 1 0 0 0 0 0 0 1
RBM28 1 0 0 0 0 0 0 1
REST 0 0 1 0 0 0 0 1
RIMS2 0 0 1 0 0 0 0 1
RYR1 0 0 1 0 0 0 0 1
SCARB1 0 0 1 0 0 0 0 1
SEMA5A, TAS2R1 0 0 1 0 0 0 0 1
SFPQ, ZMYM1 0 0 1 0 0 0 0 1
SGO2 1 0 0 0 0 0 0 1
SLC24A2 0 0 0 0 1 0 0 1
SLC2A14, SLC2A3 0 0 0 0 1 0 0 1
SNX8 0 0 1 0 0 0 0 1
SPATA4, WDR17 0 0 1 0 0 0 0 1
SRY 1 0 0 0 0 0 0 1
SYCE1 1 0 0 0 0 0 0 1
SYNE2 0 0 1 0 0 0 0 1
SYT6 0 0 0 0 1 0 0 1
TAC3 0 1 0 0 0 0 0 1
TACR3 0 1 0 0 0 0 0 1
TCERG1L 0 0 0 0 1 0 0 1
TMEM132D 0 0 0 0 1 0 0 1
TMEM59 0 0 0 0 0 1 0 1
TOP3B 0 0 0 0 1 0 0 1
TRAPPC3 0 1 0 0 0 0 0 1
TRIML1, TRIML2, ZFP42 0 0 0 0 1 0 0 1
TSPAN7 0 0 0 0 1 0 0 1
UGT2B15 0 0 0 0 1 0 0 1
WDR11 0 0 1 0 0 0 0 1
WWOX 0 0 0 0 1 0 0 1
ZFR2 0 0 1 0 0 0 0 1
ZNF626 0 0 0 0 1 0 0 1
ZNF630 0 0 0 0 1 0 0 1
ZNF716 0 0 0 0 1 0 0 1
ZNF92 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 113
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 580 117 2245 714 230 0 0 3886
Illumina Clinical Services Laboratory,Illumina 13 8 962 261 109 0 0 1353
Counsyl 86 478 320 63 10 0 0 957
OMIM 429 0 4 0 0 1 0 434
ARUP Institute,ARUP Laboratories 223 1 6 1 33 0 0 264
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 3 2 50 0 165 0 0 220
Fulgent Genetics 78 12 126 1 0 0 0 217
Mendelics 26 5 126 6 1 0 0 164
Integrated Genetics/Laboratory Corporation of America 89 46 1 3 9 0 0 148
GeneReviews 111 0 0 0 23 0 0 134
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 64 11 19 1 8 0 0 103
Genetic Services Laboratory, University of Chicago 47 9 13 0 0 0 0 69
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 1 6 19 28 0 0 55
Genome Diagnostics Laboratory,University Medical Center Utrecht 4 0 2 17 29 0 0 52
Wessex Regional Genetics Laboratory,Salisbury District Hospital 34 15 1 0 0 0 0 50
Laboratory of Medical Genetics,INSERM 46 0 0 0 0 0 0 46
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 4 7 28 0 0 40
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 1 12 26 0 0 40
Institute of Human Genetics,Klinikum rechts der Isar 30 1 0 0 0 0 0 31
Genomic Research Center,Shahid Beheshti University of Medical Sciences 9 4 13 0 0 0 0 26
Baylor Miraca Genetics Laboratories, 19 1 4 0 0 0 0 24
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 18 0 5 1 0 0 0 24
Center for Human Genetics, Inc 5 7 5 2 1 0 0 20
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital 20 0 0 0 0 0 0 20
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 17 1 0 0 0 0 0 18
Center for Human Disease Modeling,Duke University Medical Center 1 15 0 0 0 0 0 16
SBielas Lab, Department of Human Genetics,University of Michigan 15 0 0 0 0 0 0 15
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 10 4 0 0 0 0 0 14
Chan Lab,Boston Children's Hospital 0 13 0 0 0 0 0 13
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 6 3 3 0 0 0 0 12
Division of Human Genetics,Children's Hospital of Philadelphia 8 2 1 0 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 9 0 0 0 0 11
Endocrinology Clinic, Seth G.S. Medical College 6 4 0 0 0 0 0 10
SIB Swiss Institute of Bioinformatics 1 3 2 1 3 0 0 10
Athena Diagnostics Inc 0 0 0 0 9 0 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 6 2 1 0 0 0 0 9
Department of Medical Genetics, Faculty of Medicine,Ege University 9 0 0 0 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 0 9 9
Laboratoire de Genetique Biologique, CHU de Poitiers 7 1 0 0 0 0 0 8
Department of Breast and Endocrine Surgery,Kumamoto University 0 2 5 0 0 0 0 7
Center of Genomic medicine, Geneva,University Hospital of Geneva 4 3 0 0 0 0 0 7
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 3 3 0 0 0 0 7
Broad Institute Rare Disease Group,Broad Institute 3 3 1 0 0 0 0 7
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 6 0 0 0 0 0 6
Human Genetics - Radboudumc,Radboudumc 4 0 2 0 0 0 0 6
Tolun Lab, Human Genetics Laboratory,Bogazici University 1 0 5 0 0 0 0 6
Molecular Diagnostics Laboratory,M Health: University of Minnesota 3 3 0 0 0 0 0 6
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 2 0 0 0 0 2 5
HudsonAlpha Institute for Biotechnology 4 0 1 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 2 0 0 0 0 0 5
Department of Genetics,Sultan Qaboos University Hospital, Oman 4 1 0 0 0 0 0 5
Molecular Genetics Laboratory,University Hospital Copenhagen 0 5 0 0 0 0 0 5
Institute of Human Genetics,University of Goettingen 2 2 0 0 0 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 3 0 0 0 0 4
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 4 0 0 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 2 2 0 0 0 0 0 4
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 1 0 3 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 4 0 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 4
Rajkovic Lab, University of Pittsburgh 2 0 0 0 0 0 1 3
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 2 0 0 0 0 0 3
Center for Medical Genetics Ghent,University of Ghent 3 0 0 0 0 0 0 3
Molecular Genetics and RNA Biology, Humanitas University 3 0 0 0 0 0 0 3
Institute of Reproductive and Stem Cell Engineering,Central South University 3 0 0 0 0 0 0 3
Institute of Human Genetics,Cologne University 1 0 1 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 0 0 0 0 0 2
Shaikh Laboratory, University of Colorado 0 2 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 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 2
Center for Individualized Medicine,Mayo Clinic 1 1 0 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 1 0 0 1 0 0 0 2
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 2 0 0 0 0 0 0 2
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 0 1 1 0 0 0 0 2
Laboratory of Molecular Genetics,National Institutes of Health 2 0 0 0 0 0 0 2
Department of Zoology,University of the Punjab, Lahore 0 0 0 0 0 2 0 2
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 0 1 0 0 0 0 2
GenePathDx,Causeway Health Care Private Ltd 0 2 0 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 1 0 1 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 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 2 0 0 0 0 2
Molecular Development Laboratory,Murdoch Childrens Research Institute 2 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 0 2
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 1 0 0 0 0 0 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 1 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 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 0 1
State Key Lab of Medical Genetics, Central South University 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 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 0 0 1
Human Molecular Genetics Lab,Quaid-I-Azam University 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 0 1
Research Centre for Medical Genetics 0 1 0 0 0 0 0 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 1 0 0 0 0 0 0 1
MIND Institute, Wet lab,University of California Davis 1 0 0 0 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 1 0 0 0 0 0 0 1
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 0 1
Noncommunicable Diseases Research Center,Fasa University of Medical Sciences 1 0 0 0 0 0 0 1
The Translational Medicine Center of Children Development and Disease,Fudan University 1 0 0 0 0 0 0 1
Gujarat Genomics Initiative,Gujarat State Biotechnology Mission 1 0 0 0 0 0 0 1
David Buchner Laboratory,Case Western Reserve University 1 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 1
InterGenetics 1 0 0 0 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 1 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 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 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 1

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