ClinVar Miner

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

Included ClinVar conditions (144):
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
2152 939 6077 1502 1033 3 15 10979

Gene and significance breakdown #

Total genes and gene combinations: 335
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
ATM 491 223 2007 544 93 0 0 3169
ATM, C11orf65 281 155 1220 298 64 0 2 1918
CHD7 204 48 297 113 74 0 1 672
GALT 247 86 90 24 39 0 0 390
BBS10 50 70 103 35 17 0 0 242
POLR3A 26 1 101 24 40 0 0 190
BBS2 35 37 97 29 22 0 0 189
BBS9 25 4 97 32 40 0 0 178
RAB3GAP2 2 3 118 37 21 0 1 172
BBS12 25 30 81 29 28 0 0 166
ASTN2, TRIM32 11 1 129 19 9 0 0 161
CEP290 12 3 115 6 19 0 0 155
BBS1, ZDHHC24 29 25 71 23 14 0 0 146
DCAF17 9 3 75 11 30 0 0 125
BBS4 24 11 57 15 28 0 0 123
FOXL2 79 23 15 1 3 0 0 117
GNRHR 19 1 72 8 17 0 0 117
WDPCP 2 1 83 22 15 0 0 108
HSD17B4 14 7 39 31 24 0 1 106
MKKS 18 3 64 9 18 0 0 106
MKS1 4 23 68 8 8 0 0 105
BBS7 18 8 56 6 15 0 0 96
LOC101929710, PCSK1 5 2 77 6 4 0 0 94
CYP19A1, MIR4713HG, PIRC66 9 0 52 7 22 0 0 90
STAR 15 20 54 1 3 0 0 90
SDCCAG8 10 5 55 16 11 0 0 88
LHX3 9 0 63 7 3 0 0 81
SEMA3E 1 0 51 15 13 0 0 80
BBS1 22 24 26 13 4 0 1 77
NR0B1 69 3 4 0 3 0 0 76
LEP 2 1 62 6 3 0 0 74
LEPR 4 0 56 6 7 0 0 73
PROP1 13 24 30 1 9 0 0 71
TTC8 4 1 45 14 12 0 0 65
FSHR 6 6 42 4 4 0 0 60
NOBOX 6 2 27 11 18 0 0 60
​intergenic 1 0 1 0 55 0 0 57
POLR3B 10 3 28 8 8 0 0 57
POF1B 1 1 17 7 22 0 0 47
ARL6 9 3 23 6 4 0 0 44
BBS5 17 7 6 5 9 0 0 44
ACBD6, LHX4 5 0 14 7 11 0 1 38
HBB, LOC106099062, LOC107133510 30 1 7 0 2 0 1 38
POU1F1 17 3 15 0 1 0 1 36
POLR1C 30 1 4 0 0 0 0 32
OTX2 1 0 22 3 5 0 0 31
CYP17A1 5 2 19 0 2 0 2 29
LOC100287944, POLR3B 0 1 23 0 5 0 0 29
HESX1 10 1 13 5 2 0 0 27
FIGLA 3 0 9 4 9 0 0 25
MAGEL2 17 1 4 1 0 0 0 23
LHX4 2 0 11 5 4 0 0 21
BMP15 5 0 5 4 10 0 0 20
SMCHD1 20 0 0 0 0 0 0 20
HBB, LOC107133510, LOC110006319 10 1 6 0 0 0 0 17
LARS2 8 4 3 1 0 0 0 16
DCAF17, METTL8 2 0 12 1 0 0 0 14
PNPLA6 10 2 2 0 0 0 0 14
XRCC4 9 1 2 0 0 0 0 12
RNF216 8 1 2 0 0 0 0 11
FMR1 7 0 0 1 1 0 0 9
HARS2 2 7 1 0 0 0 0 9
NR5A1 9 0 1 0 0 0 0 9
AKT3, SDCCAG8 0 0 8 0 1 0 0 8
C12orf29, CEP290 0 0 7 1 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
CCDC170 0 2 5 0 0 0 0 7
CYP19A1 1 0 5 0 1 0 0 7
H6PD 5 0 1 0 1 0 0 7
TMEM67 3 2 2 0 0 0 0 7
TWNK 5 1 1 0 0 0 0 7
CLPP 4 2 0 0 0 0 0 6
LEPR, LEPROT 0 0 4 1 1 0 0 6
STAG3 3 3 0 0 0 0 0 6
AKR1C2 4 0 0 0 1 0 0 5
BBS4, HIGD2B 0 0 2 0 3 0 0 5
C8orf37 2 2 1 0 0 0 0 5
CHMP2B, POU1F1 0 0 0 0 5 0 0 5
ESR1 3 1 1 0 0 1 1 5
HFM1 4 0 1 0 0 0 0 5
LZTFL1 3 1 1 0 0 0 0 5
MCM9 3 0 1 0 0 0 1 5
SOX3 3 1 1 0 0 0 0 5
SOX9 5 0 0 0 0 0 0 5
CYP17A1, LOC110408762 0 0 3 0 1 0 0 4
HS6ST1 0 1 1 3 0 0 0 4
LOC108863620, STAR 0 0 3 1 0 0 0 4
SIM1 0 0 4 0 0 0 0 4
BBIP1 2 0 1 0 0 0 0 3
HSD11B1 2 0 1 0 0 0 0 3
IFT74 2 1 0 0 0 0 1 3
RBM28 2 1 0 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
CYP19A1, LOC110386951, MIR4713HG, PIRC66 0 0 1 0 1 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, FRAXA, LOC107032825 2 0 0 0 0 0 0 2
IFT27, LOC105373021 2 0 0 0 0 0 0 2
MLX, PSMC3IP 2 0 0 0 0 0 0 2
MRPS22 2 0 0 0 0 0 0 2
NSMCE2 2 0 0 0 0 0 0 2
POLR3A, RPS24 0 0 2 0 0 0 0 2
RALGAPB 0 2 0 0 0 0 0 2
SOHLH1 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, ATM, NPAT 0 0 1 0 0 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, 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, 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, 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 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
AKT3, CEP170, LINC01347, LOC110120698, MIR4677, PLD5, SDCCAG8 1 0 0 0 0 0 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, 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, CYRIB 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
ATM, NPAT 1 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 1
B3GAT1-DT 0 0 0 0 1 0 0 1
B3GNT5, MCF2L2 0 0 1 0 0 0 0 1
BBS1, DPP3, ZDHHC24 0 1 0 0 0 0 0 1
BBS9, RP9 0 0 1 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
BNC1 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
CCDC141 0 0 1 0 0 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, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR3915, MIR4666B, MIR6134, NR0B1, TAB3 1 0 0 0 0 0 0 1
CXorf21, DMD, FTHL17, GK, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3 1 0 0 0 0 0 0 1
CXorf21, IL1RAPL1, LOC108410393, LOC113875019, LOC116309149, LOC116309150, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR4666B, NR0B1 1 0 0 0 0 0 0 1
CYLC2 0 0 0 0 1 0 0 1
CYP19A1, LOC110386947 0 0 1 0 0 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
DNAH6 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
EML5, PTPN21, SPATA7, TTC8, ZC3H14 0 0 1 0 0 0 0 1
EP300 0 1 0 0 0 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
ESR2 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
GDF9 0 0 1 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
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
IQSEC2 1 0 0 0 0 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
KDM6A 0 1 0 0 0 0 0 1
KMT2D 0 1 0 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
LOC106780824, LRP5L, MIR6817 0 0 0 0 1 0 0 1
LOC108281134, SOX3 0 0 0 1 0 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
LOC116268429, LOC116268430, LOC116268431, SLC2A14, SLC2A3 0 0 0 0 1 0 0 1
LOC116276448 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
MARCHF4, MREG, PECR, TMEM169, XRCC5 0 0 1 0 0 0 0 1
MIR12132, PATJ 0 0 1 0 0 0 0 1
MSH2 0 0 0 0 0 0 1 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, TARS3 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
PARP4 0 0 0 0 1 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
PRORP 0 1 0 0 0 0 0 1
PSG1, PSG11, PSG6, PSG7 0 0 0 0 1 0 0 1
PSMC3IP 0 0 1 0 0 0 0 1
PTGR1, ZNF483 0 0 1 0 0 0 0 1
PUF60 0 1 0 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
RERE 0 1 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
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
TNFRSF1A 1 0 0 0 0 0 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: 150
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1014 203 3636 1092 372 0 0 6317
Illumina Clinical Services Laboratory,Illumina 13 8 2105 306 493 0 0 2925
Counsyl 86 488 320 63 10 0 0 967
OMIM 434 0 4 0 0 1 0 439
Mendelics 51 20 205 70 57 0 0 403
Research and Development, 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,Fulgent Genetics 78 12 126 1 0 0 0 217
Integrated Genetics/Laboratory Corporation of America 90 45 1 3 9 0 0 148
GeneReviews 111 0 0 0 23 0 0 134
Baylor Genetics 89 10 7 0 0 0 0 106
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
Institute of Human Genetics,Klinikum rechts der Isar 46 6 0 0 0 0 0 52
Wessex Regional Genetics Laboratory,Salisbury District Hospital 34 15 1 0 0 0 0 50
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 11 4 4 2 28 0 0 49
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
MyeliNeuroGene Lab,McGill University Health Center Research Institute 35 0 0 0 0 0 0 35
Genomic Research Center, Shahid Beheshti University of Medical Sciences 9 6 14 1 0 0 0 30
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 18 0 5 1 0 0 0 24
Center for Human Genetics, Inc,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
University of Washington Center for Mendelian Genomics,University of Washington 0 20 0 0 0 0 0 20
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 11 0 3 0 0 0 0 14
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 4 7 3 0 0 0 0 14
Chan Lab,Boston Children's Hospital 0 13 0 0 0 0 0 13
Sharon lab,Hadassah-Hebrew University Medical Center 9 4 0 0 0 0 0 13
Myriad Women's Health, Inc. 10 3 0 0 0 0 0 13
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 6 3 3 0 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 10 0 0 0 0 12
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 6 4 1 0 0 0 0 11
Division of Human Genetics,Children's Hospital of Philadelphia 8 2 1 0 0 0 0 11
GenomeConnect, ClinGen 0 0 0 0 0 0 11 11
Endocrinology Clinic, Seth G.S. Medical College 6 4 0 0 0 0 0 10
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 9 1 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
Department of Medical Genetics, Faculty of Medicine,Ege University 9 0 0 0 0 0 0 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 1 2 0 0 0 0 9
Center of Genomic medicine, Geneva,University Hospital of Geneva 5 4 0 0 0 0 0 9
Laboratoire de Genetique Biologique, CHU de Poitiers 7 1 0 0 0 0 0 8
Broad Institute Rare Disease Group,Broad Institute 3 3 2 0 0 0 0 8
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 3 1 0 0 0 0 7
Department of Breast and Endocrine Surgery,Kumamoto University 0 2 5 0 0 0 0 7
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 7 0 0 0 0 0 0 7
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 3 3 0 0 0 0 7
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 5 0 0 0 0 0 7
Molecular Diagnostics Laboratory, M Health: University of Minnesota 4 3 0 0 0 0 0 7
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 6 0 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 3 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
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 2 0 0 0 0 2 5
Hadassah Hebrew University Medical Center 0 5 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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 2 0 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
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 4 0 0 0 0 0 0 4
Undiagnosed Diseases Network,NIH 1 0 3 0 0 0 0 4
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 3 1 0 0 0 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 4 0 0 0 0 0 0 4
Reproductive Health Research and Development,BGI Genomics 3 1 0 0 0 0 0 4
Institute of Human Genetics,Cologne University 2 0 1 0 0 0 0 3
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
Reproductive Development, Murdoch Childrens Research Institute 2 1 0 0 0 0 0 3
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
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 2 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
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
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 2 0 0 0 0 2
The Translational Medicine Center of Children Development and Disease,Fudan University 2 0 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 2
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 1 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 0 0 2
Breda Genetics srl 0 2 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 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 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 1 0 0 0 0 2
Reproductive Endocrine Unit, Massachusetts General Hospital 0 2 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 0 0 0 0 0 1
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, FRIGE's 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
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 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
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 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
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 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
Dpt. of Clinical Genetics, Molecular Genetics Lab 4062,University Hospital of Copenhagen, Rigshospitalet 0 1 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 1
InterGenetics 1 0 0 0 0 0 0 1
Génétique des Maladies du Développement, 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
Genetic Outpatient Clinic,Children's Memorial Health Institute 0 1 0 0 0 0 0 1
Neurology,Jichi Medical University 1 0 0 0 0 0 0 1
Dept. of Evolution and Genomic Sciences,University of Manchester 0 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 0 1
Genetics Department,Polish Mother's Memorial Hospital Research Institute 0 0 1 0 0 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 0 1
Genetics,Children's Hospital New Orleans 0 0 1 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 0 1 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 0 1
MedGen Diagnostic Laboratory,MedGen Medical Centre 1 0 0 0 0 0 0 1

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