ClinVar Miner

Variants studied for premature menopause

Included ClinVar conditions (10):
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 total
27 48 133 2 167 376

Gene and significance breakdown #

Total genes and gene combinations: 299
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
​intergenic 0 0 1 0 44 45
TP63 4 0 1 0 0 5
IGSF10 0 0 4 0 0 4
REC8 0 2 2 0 0 4
STAG3 1 2 1 0 0 4
RYR3 0 1 2 0 0 3
USP53 0 0 3 0 0 3
CAMSAP2 0 0 2 0 0 2
CLPB, LOC126861258 2 0 0 0 0 2
CROCC 0 0 2 0 0 2
CYP2E1, LOC110599585, LOC126861107, LOC129390242, LOC130005033, LOC130005034, LOC130005035, LOC130005036, SCART1, SYCE1 0 1 0 0 1 2
DNAH1 0 0 2 0 0 2
EIF2B2 2 0 0 0 0 2
ERCC1 2 0 0 0 0 2
ESRRG 0 0 2 0 0 2
FOXK2 0 0 2 0 0 2
HERC1 0 0 2 0 0 2
LRRC41, RAD54L 0 2 0 0 0 2
MRPS7 0 2 0 0 0 2
NEK8 0 0 2 0 0 2
NOS3 0 2 0 0 0 2
PEX6 2 0 0 0 0 2
RAD51C 0 1 1 0 0 2
AADAC, AADACL2 0 0 0 0 1 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 0 0 1 0 0 1
ABCC4 0 0 0 0 1 1
ABCD1, ACTRT1, ADGRG4, AFF2, AIFM1, APLN, ARHGAP36, ARHGAP4, ARHGEF6, ATP11C, ATP2B3, ATP6AP1, AVPR2, BCAP31, BCORL1, BGN, BRCC3, BRS3, CCDC160, CCNQ, CD40LG, CD99L2, CDR1, CETN2, CLIC2, CMC4, CNGA2, CSAG1, CSAG3, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT55, CTAG1A, CTAG1B, CTAG2, CXorf51A, CXorf51B, CXorf66, DCAF12L1, DCAF12L2, DKC1, DNASE1L1, DUSP9, ELF4, EMD, ENOX2, EOLA1, EOLA2, F8, F8A1, F8A2, F8A3, F9, FAM3A, FAM50A, FATE1, FGF13, FHL1, FLNA, FMR1, FMR1NB, FRMD7, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GDI1, GPC3, GPC4, GPR101, GPR119, GPR50, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, HMGB3, HPRT1, HS6ST2, HSFX1, HSFX2, HTATSF1, IDH3G, IDS, IGSF1, IKBKG, INTS6L, IRAK1, L1CAM, LAGE3, LDOC1, LOC100509091, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEC1, MAGEC2, MAGEC3, MAMLD1, MAP7D3, MBNL3, MCF2, MECP2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR224, MIR424, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MMGT1, MOSPD1, MPP1, MTCP1, MTM1, MTMR1, NAA10, NSDHL, OCRL, OPN1LW, OPN1MW, OPN1MW2, OR13H1, PABIR2, PABIR3, PASD1, PDZD4, PHF6, PLAC1, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PRR32, PRRG3, RAB33A, RAB39B, RAP2C, RBMX, RBMX2, RENBP, RPL10, RTL8A, RTL8B, RTL8C, SAGE1, SASH3, SH2D1A, SLC10A3, SLC25A14, SLC6A8, SLC9A6, SLITRK2, SLITRK4, SMARCA1, SMIM10, SMIM9, SOX3, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SRPK3, SSR4, STAG2, STK26, TAFAZZIN, TENM1, TEX28, TFDP3, THOC2, TKTL1, TMEM185A, TMEM187, TMLHE, TREX2, UBE2NL, UBL4A, USP26, UTP14A, VBP1, VGLL1, VMA21, XIAP, XPNPEP2, ZDHHC9, ZFP92, ZIC3, ZNF185, ZNF275, ZNF280C, ZNF449, ZNF75D 0 1 0 0 0 1
ACACB, UNG 0 0 0 0 1 1
ACAT1, CUL5, RAB39A, SLC35F2, SLN 0 0 0 0 1 1
ACKR3 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, 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, GPRASP3, 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 1
ADAMTS1 0 1 0 0 0 1
ADAMTS5 0 0 1 0 0 1
ADAMTS6 0 1 0 0 0 1
ADAMTSL3, AP3B2, BNC1, BTBD1, C15orf40, CPEB1, FSD2, HOMER2, RAMAC, SCARNA15, SH3GL3, TM6SF1, WHAMM 0 1 0 0 0 1
ADCY5, SEC22A 0 0 1 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, LHFPL7, 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, TOP3B, TRMT2A, TSSK2, TXNRD2, UBE2L3, UFD1, UPB1, USP41, VPREB1, VPREB3, YDJC, YPEL1, ZDHHC8, ZNF280A, ZNF280B, ZNF70, ZNF74 0 0 0 0 1 1
AFDN, FRMD1, KIF25 0 0 0 0 1 1
AFF2 0 1 0 0 0 1
AFP 0 1 0 0 0 1
AGAP10, ANXA8L1, NPY4R 0 0 0 0 1 1
AGBL4, AGBL4-IT1, BEND5, LOC129930503 0 0 1 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 1
ALMS1, LOC126806252, NAT8 1 0 0 0 0 1
AMACR, C1QTNF3, RAI14 0 0 1 0 0 1
AMHR2 0 0 1 0 0 1
AMY1A, AMY1B, AMY1C, AMY2A, AMY2B 0 0 0 0 1 1
ANKRD30B 0 0 0 0 1 1
ANKRD34A, ANKRD35, HJV, ITGA10, LIX1L, NBPF10, NOTCH2NLA, NUDT17, PDE4DIP, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 0 0 0 1 1
ANKS1B, BLTP3B 0 0 0 0 1 1
AOPEP, FANCC 0 0 1 0 0 1
AOX1, BZW1, C2orf69, CLK1, FTCDNL1, HYCC2, KCTD18, MAIP1, NIF3L1, ORC2, PPIL3, SATB2, SGO2, SPATS2L, TYW5 0 0 1 0 0 1
APBA2, ENTREP2, GOLGA8M, NSMCE3, TJP1 0 0 0 0 1 1
APP, CYYR1 0 0 1 0 0 1
AR, OPHN1 0 0 1 0 0 1
ARFGAP3, LOC112695101, LOC112695102, LOC121627947, LOC121627948, LOC121853045, LOC125446250, LOC125446253, LOC130067617, LOC130067618, LOC130067619, LOC130067620, LOC130067621, LOC130067622, LOC130067623, LOC130067624, LOC130067625, LOC130067626, PACSIN2, TTLL1 0 0 1 0 0 1
ARPP21 0 0 0 0 1 1
ASAP1, CYRIB 0 0 0 0 1 1
ASB7, CERS3, LINS1 0 0 0 0 1 1
ASPHD1, CDIPT, KCTD13, KIF22, MAZ, MVP, PAGR1, PRRT2, SEZ6L2, TMEM219, ZG16 0 0 1 0 0 1
ASTN2, LOC107987014, LOC113839502, LOC126860747, LOC130002464, LOC130002465, LOC130002466, LOC132089661, LOC132089662, TRIM32 0 0 1 0 0 1
ATG2A 0 0 1 0 0 1
ATG7 0 0 1 0 0 1
ATG9B 0 1 0 0 0 1
B3GAT1-DT 0 0 0 0 1 1
B3GNT5, MCF2L2 0 0 1 0 0 1
BBS9 0 0 1 0 0 1
BCO1, PKD1L2 0 0 0 0 1 1
BICRA 0 0 0 0 1 1
BICRA, EHD2, LOC121627883, LOC125371540, LOC130064814, LOC130064815, LOC130064816, LOC130064817, LOC130064818, LOC130064819, LOC130064820, LOC130064821, LOC130064822, LOC130064823, LOC130064824, LOC130064825, LOC130064826, LOC130064827, LOC130064828, LOC130064829, LOC130064830, NOP53, SELENOW, SNORD23, ZNF541 0 0 1 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 1
BMAL1 0 0 1 0 0 1
BMP6 0 1 0 0 0 1
BMPR1B 0 0 1 0 0 1
BNC1 0 1 0 0 0 1
BRD3 0 0 1 0 0 1
BRDT 1 0 0 0 0 1
BRWD1 0 1 0 0 0 1
C1QTNF6, IL2RB, SSTR3, TMPRSS6 0 0 1 0 0 1
C1QTNF9B, MIPEP, PCOTH, SACS, SGCG, SPATA13, TNFRSF19 0 0 0 0 1 1
C1orf87, CYP2J2, FGGY, HOOK1 0 0 1 0 0 1
C3 0 0 1 0 0 1
CADM2 0 0 0 0 1 1
CCDC115 0 0 0 0 1 1
CCNT2 0 0 1 0 0 1
CD99, GYG2, LOC126863189, XG 0 0 1 0 0 1
CDC7 0 0 1 0 0 1
CDH19 0 0 0 0 1 1
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C-CDRT4 0 0 1 0 0 1
CENPI 0 0 1 0 0 1
CENPL, DARS2, GAS5, KLHL20, RC3H1, SERPINC1, ZBTB37 0 0 1 0 0 1
CENPP, LOC132089711, LOC132089712, NOL8, OGN, OMD 0 0 1 0 0 1
CFH, CFHR1, CFHR3, CFHR4, LOC122149335, LOC126805964 0 0 0 0 1 1
CFHR1, CFHR4 0 0 0 0 1 1
CGNL1 0 0 1 0 0 1
CHD7 0 0 0 0 1 1
CHEK2 1 0 0 0 0 1
CHL1, CNTN4, CNTN6 0 0 1 0 0 1
CHN2 0 0 0 0 1 1
CHRNA7 0 0 0 0 1 1
CHST11 0 0 1 0 0 1
CHST5, TMEM231 0 0 0 0 1 1
CHSY1, LOC125146369, LOC125146370, LOC130058064, LOC130058065, LOC130058066, LOC130058067, LOC130058068, LOC130058069, LOC130058070, LOC130058071, LOC130058072, SELENOS, SNRPA1 0 0 0 0 1 1
CKB 0 0 1 0 0 1
CLEC4C, NANOG, NANOGNB, SLC2A14 0 0 0 0 1 1
CLNK, ZNF518B 0 0 1 0 0 1
COL26A1 0 0 0 0 1 1
CSMD3, LOC126860474, MIR2053 0 0 1 0 0 1
CST4 0 0 0 0 1 1
CT45A1, CT55, INTS6L, ZNF449, ZNF75D 0 0 0 0 1 1
CTNNA3, LOC132089819 0 0 0 0 1 1
CYLC2 0 0 0 0 1 1
CYP17A1 0 1 0 0 0 1
CYP19A1, MIR4713HG, PIRC66 0 1 0 0 0 1
CYP2C19, LOC110599570, LOC111982881 0 0 0 0 1 1
DDI1, PDGFD 0 0 1 0 0 1
DDX11 0 0 0 0 1 1
DDX53, LOC126863227, PTCHD1 0 0 0 0 1 1
DEFB134, DEFB135, DEFB136 0 0 0 0 1 1
DGCR2, DGCR6, PRODH 0 0 0 0 1 1
DGCR6L, FAM230A, GGTLC3, KLHL22, MED15, RIMBP3, RTN4R, SCARF2, TMEM191B, USP41, ZNF74 0 0 0 0 1 1
DLEU7, LOC121838575, LOC130009802, LOC130009803, LOC130009804, LOC130009805, LOC130009806, LOC130009807, LOC130009808 0 0 0 0 1 1
DMC1 0 0 0 0 1 1
DMD 0 0 0 0 1 1
DMRT3 0 1 0 0 0 1
DNAH11, SP4 0 0 1 0 0 1
DNAH6 0 0 1 0 0 1
DOC2B, LINC02091, LOC132090892, RPH3AL 0 0 1 0 0 1
DOCK8 0 0 0 0 1 1
DOCK8, FOXD4, ZNG1A 0 0 0 0 1 1
DPPA2 0 1 0 0 0 1
DPY19L2 0 0 0 0 1 1
DPY19L2, LOC130008194 0 0 0 0 1 1
EFL1, SAXO2 0 0 1 0 0 1
EHF 0 0 0 0 1 1
ERCC4 0 0 1 0 0 1
ERCC6L2 0 0 1 0 0 1
ESRRB 0 0 1 0 0 1
FAM120B, PDCD2, PSMB1, TBP 0 0 1 0 0 1
FANCA 0 1 0 0 0 1
FANCL 0 0 1 0 0 1
FHIT 0 0 0 0 1 1
FIGLA 0 0 1 0 0 1
FMN2, LOC126806069 0 0 1 0 0 1
FPR2, FPR3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF649, ZNF841 0 0 0 0 1 1
FYN 0 0 1 0 0 1
GALT 1 0 0 0 0 1
GDF9 0 0 1 0 0 1
GGPS1 0 0 1 0 0 1
GK2, NAA11 0 0 1 0 0 1
GLI1 0 0 1 0 0 1
GOLGA8B 0 0 0 0 1 1
GOLPH3, LOC126807344, PDZD2 0 0 0 0 1 1
GPR141 0 0 1 0 0 1
GPR17, LIMS2, MYO7B 0 0 0 0 1 1
GRAMD1C 0 0 0 0 1 1
GREM1 0 0 1 0 0 1
GTF2H2C, LOC101928924, MARVELD2, OCLN, SNORD13B-1 0 0 0 0 1 1
HAPSTR1 0 0 0 0 1 1
HROB 0 1 0 0 0 1
HS6ST3, MIR4501 0 0 0 0 1 1
IGF2R 0 1 0 0 0 1
IGH, IGHA1, IGHD, IGHD3-3, IGHG1, IGHG3, IGHM, IGHV3-23 0 0 0 0 1 1
IMMP2L, LOC129389845 0 0 0 0 1 1
INHA 0 0 0 1 0 1
INSL6, JAK2 1 0 0 0 0 1
KANSL1 0 0 0 0 1 1
KCNIP3, MAL, MRPS5, PROM2, TEKT4, ZNF2, ZNF514 0 0 1 0 0 1
KCNN2 0 0 0 0 1 1
KCNQ5, KHDC1L, LOC113175017, LOC122539213, LOC126859710 0 0 1 0 0 1
KDR 0 1 0 0 0 1
KHDRBS1 0 1 0 0 0 1
LARS2 0 0 1 0 0 1
LEPR 0 0 1 0 0 1
LINC00871 0 0 0 0 1 1
LINC01237, LINC01238, LINC01880, LINC01881, LINC03100, LOC122889016, LOC132205954, LOC285097 0 0 0 0 1 1
LINC01541 0 0 0 0 1 1
LINC02018, LOC112935961, LOC129937069, LOC129937070, LOC129937071, LOC129937072, LOC129937073 0 0 0 0 1 1
LINC02055 0 0 0 0 1 1
LINC02374, LOC339975 0 0 0 0 1 1
LINC02714 0 0 0 0 1 1
LINC02743, SPATA19 0 0 0 0 1 1
LINC02907 0 0 0 0 1 1
LINGO2 0 0 0 0 1 1
LOC105379224, LOC124049159, LOC126860297, LOC129999814, LOC129999815, LOC129999816, LOC129999817, LOC129999818, LOC129999819 0 0 0 0 1 1
LOC106780824, LOC125424402, LOC130067127, LOC130067128, LOC130067129, LOC130067130, LOC130067131, LOC130067132, LOC130067133, LOC130067134, MIR6817 0 0 0 0 1 1
LOC110121330 0 0 0 0 1 1
LOC113687185 0 0 0 0 1 1
LOC116268429, LOC116268430, LOC116268431, LOC124625898, LOC126861438, LOC129390395, LOC130007317, LOC130007318, SLC2A14, SLC2A3 0 0 0 0 1 1
LOC116276448, LOC126862291 0 0 0 0 1 1
LOC122056898, MIR12132, PATJ 0 0 1 0 0 1
LOC122094904, LOC129931240, SYT6 0 0 0 0 1 1
LOC122756690 0 0 0 0 1 1
LOC122861256, OSBPL6 0 0 0 0 1 1
LOC125371453, LOC129391033, LOC130063167, ZFR2 0 0 1 0 0 1
LOC126805813 0 0 0 0 1 1
LOC126807223, SPATA4, WDR17 0 0 1 0 0 1
LOC126860076 0 0 0 0 1 1
LOC126861571 0 0 0 0 1 1
LOC126861930 0 0 0 0 1 1
LOC129390101, LOC129390102 0 0 0 0 1 1
LOC129390953 0 0 0 0 1 1
LOC129994273, LOC129994274, LOC129994275, LOC129994276 0 0 0 0 1 1
LOC129997635, LOC129997636, PRKN 0 0 0 0 1 1
LOC129997800, LOC129997801, LOC129997802, LOC129997803, LOC129997804, LOC129997805, LOC129997806, LOC129997807, LOC129997808, LOC129997809, SNX8 0 0 1 0 0 1
LOC130003769 0 0 0 0 1 1
LOC130061409, SMARCD2 0 0 1 0 0 1
LOC130065435, LOC130065436, MACROD2 0 0 0 0 1 1
LOC132089650, PTGR1, ZNF483 0 0 1 0 0 1
LOC132090156, MIR1267, NALF1 0 0 0 0 1 1
LOC132090486 0 0 0 0 1 1
LRP2 0 0 0 0 1 1
LSM14A 0 0 0 0 1 1
MAP3K4 0 0 0 0 1 1
MARCHF4, MREG, PECR, TMEM169, XRCC5 0 0 1 0 0 1
MCM9 0 0 1 1 0 1
MECOM 0 1 0 0 0 1
MLH3 0 1 0 0 0 1
MND1 0 1 0 0 0 1
MOV10 0 0 1 0 0 1
MRE11 0 0 1 0 0 1
MRPS22 0 0 1 0 0 1
MSH4 1 0 0 0 0 1
MSR1 0 0 0 0 1 1
MT1HL1, RYR2 0 0 1 0 0 1
MYC 0 0 1 0 0 1
NBN 1 0 0 0 0 1
NCAM2 0 0 0 0 1 1
NCKAP5 0 0 1 0 0 1
NLGN1 0 0 0 0 1 1
NOBOX 0 1 0 0 0 1
NOTCH2 0 1 0 0 0 1
NR5A2 0 1 0 0 0 1
NTRK1 0 1 0 0 0 1
NTRK3 0 0 1 0 0 1
NUP107 0 0 1 0 0 1
NUP155 0 0 1 0 0 1
OR4A15, OR4C11, OR4C15, OR4C16, OR4C6, OR4P4, OR4S2 0 0 0 0 1 1
OR4F15, OR4F6, TARS3 0 0 0 0 1 1
OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3 0 0 0 0 1 1
OR8J1 0 0 0 0 1 1
PADI6 0 0 1 0 0 1
PARD3 0 0 1 0 0 1
PARP4 0 0 0 0 1 1
PFKP, PITRM1, SNORD142 0 0 0 0 1 1
PLD5 0 0 0 0 1 1
PMM2 1 0 0 0 0 1
PNPLA4, PUDP, STS, VCX 0 0 1 0 0 1
PNPLA7 0 0 1 0 0 1
POF1B 0 0 1 0 0 1
POLG 0 1 0 0 0 1
POR 0 1 0 0 0 1
POTEB 0 0 0 0 1 1
PPP4R1, RALBP1 0 0 1 0 0 1
PREPL 1 0 0 0 0 1
PREPL, SLC3A1 1 0 0 0 0 1
PRIM1 0 0 1 0 0 1
PRKD1 0 0 1 0 0 1
PRLR 0 1 0 0 0 1
PSG1, PSG11, PSG6, PSG7 0 0 0 0 1 1
PWRN2 0 0 0 0 1 1
RAB19, SLC37A3 0 0 1 0 0 1
RAD50 0 0 1 0 0 1
RAD50, TH2LCRR 0 0 1 0 0 1
RAD54L 1 0 0 0 0 1
REST 0 0 1 0 0 1
RICTOR 0 1 0 0 0 1
RIMS2 0 0 1 0 0 1
SCARB1 0 0 1 0 0 1
SEMA5A, TAS2R1 0 0 1 0 0 1
SFPQ, ZMYM1 0 0 1 0 0 1
SGO2 1 0 0 0 0 1
SH2B1 0 1 0 0 0 1
SIRT6 0 1 0 0 0 1
SLC24A2 0 0 0 0 1 1
SOX3 0 0 1 0 0 1
SSH1 0 0 1 0 0 1
STAG1 0 0 1 0 0 1
TCERG1L 0 0 0 0 1 1
TFAM 0 0 1 0 0 1
TG 0 0 1 0 0 1
THBS1 0 1 0 0 0 1
TMEM132D 0 0 0 0 1 1
TOP1MT 0 0 1 0 0 1
TOP3B 0 0 0 0 1 1
TRIML1, TRIML2, ZFP42 0 0 0 0 1 1
TSPAN7 0 0 0 0 1 1
TTC16 0 0 1 0 0 1
UBR4 0 0 1 0 0 1
UGT2B15 0 0 0 0 1 1
WHAMM 0 0 1 0 0 1
WT1 0 1 0 0 0 1
WWOX 0 0 0 0 1 1
XPNPEP2 0 0 1 0 0 1
ZNF462 0 1 0 0 0 1
ZNF626 0 0 0 0 1 1
ZNF630 0 0 0 0 1 1
ZNF716 0 0 0 0 1 1
ZNF92 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu 3 2 50 0 165 220
Reproductive Development, Murdoch Childrens Research Institute 13 5 47 0 0 65
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 7 37 20 0 0 64
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 10 1 1 13
Clinical Bioinformatic Lab, Royan Institute 1 1 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 2 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 1 2
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Laboratory of Molecular Genetics, National Institutes of Health 1 0 0 0 0 1
Human Genetics Laboratory, State University of Rio de Janeiro 0 1 0 0 0 1
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 0 0 1 0 0 1

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