ClinVar Miner

Variants studied for premature ovarian failure 1

Included ClinVar conditions (4):
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 other not provided total
25 43 92 5 175 2 1 343

Gene and significance breakdown #

Total genes and gene combinations: 257
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
​intergenic 0 0 0 0 44 0 0 44
FMR1 9 3 9 2 6 2 0 31
IGSF10 0 0 4 0 0 0 0 4
MCM9 2 0 0 1 0 0 1 4
RYR3 0 1 2 0 0 0 0 3
CYP2E1, LOC110599585, LOC126861107, LOC129390242, LOC130005033, LOC130005034, LOC130005035, LOC130005036, SCART1, SYCE1 0 1 0 0 1 0 0 2
FMR1, FRAXA, LOC107032825, LOC129929053 2 0 0 0 0 0 0 2
LRRC41, RAD54L 0 2 0 0 0 0 0 2
NOBOX 0 1 0 0 1 0 0 2
NOS3 0 2 0 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
ACKR3 0 0 1 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, 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 0 0 1
ADAMTS1 0 1 0 0 0 0 0 1
ADAMTS5 0 0 1 0 0 0 0 1
ADAMTS6 0 1 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, ADGB-DT, GRM1, LOC114004398, LOC129997388, 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, 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 0 0 1
AFDN, FRMD1, KIF25 0 0 0 0 1 0 0 1
AFF2 0 1 0 0 0 0 0 1
AFP 0 1 0 0 0 0 0 1
AGAP10, ANXA8L1, NPY4R 0 0 0 0 1 0 0 1
AGBL4, AGBL4-IT1, BEND5, LOC129930503 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
ALMS1, LOC126806252, 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, BLTP3B 0 0 0 0 1 0 0 1
AOPEP, FANCC 0 0 1 0 0 0 0 1
AOX1, BZW1, C2orf69, CLK1, FTCDNL1, HYCC2, KCTD18, MAIP1, NIF3L1, ORC2, PPIL3, SATB2, SGO2, SPATS2L, TYW5 0 0 1 0 0 0 0 1
APBA2, ENTREP2, 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, LOC121627947, LOC121627948, LOC121853045, LOC125446250, LOC125446253, LOC130067617, LOC130067618, LOC130067619, LOC130067620, LOC130067621, LOC130067622, LOC130067623, LOC130067624, LOC130067625, LOC130067626, PACSIN2, TTLL1 0 0 1 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, LOC107987014, LOC113839502, LOC126860747, LOC130002464, LOC130002465, LOC130002466, LOC132089661, LOC132089662, TRIM32 0 0 1 0 0 0 0 1
ATG2A 0 0 1 0 0 0 0 1
ATG7 0 0 1 0 0 0 0 1
ATG9B 0 1 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
BBS9 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, 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 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
BMAL1 0 0 1 0 0 0 0 1
BMP6 0 1 0 0 0 0 0 1
BNC1 0 1 0 0 0 0 0 1
BRD3 0 0 1 0 0 0 0 1
BRDT 1 0 0 0 0 0 0 1
BRWD1 0 1 0 0 0 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
C3 0 0 1 0 0 0 0 1
CADM2 0 0 0 0 1 0 0 1
CCDC115 0 0 0 0 1 0 0 1
CD99, GYG2, LOC126863189, 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, LOC132089711, LOC132089712, NOL8, OGN, OMD 0 0 1 0 0 0 0 1
CFH, CFHR1, CFHR3, CFHR4, LOC122149335, LOC126805964 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
CHD7 0 0 0 0 1 0 0 1
CHEK2 1 0 0 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, LOC125146369, LOC125146370, LOC130058064, LOC130058065, LOC130058066, LOC130058067, LOC130058068, LOC130058069, LOC130058070, LOC130058071, LOC130058072, LRRK1, SELENOS, SNRPA1 0 0 0 0 1 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
CSMD3, LOC126860474, 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, LOC132089819 0 0 0 0 1 0 0 1
CYLC2 0 0 0 0 1 0 0 1
CYP17A1 0 1 0 0 0 0 0 1
CYP19A1, MIR4713HG, PIRC66 0 1 0 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, LOC126863227, 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
DLEU7, LOC121838575, LOC130009802, LOC130009803, LOC130009804, LOC130009805, LOC130009806, LOC130009807, LOC130009808 0 0 0 0 1 0 0 1
DMC1 0 0 0 0 1 0 0 1
DMD 0 0 0 0 1 0 0 1
DMRT3 0 1 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, LOC132090892, RPH3AL 0 0 1 0 0 0 0 1
DOCK8 0 0 0 0 1 0 0 1
DOCK8, FOXD4, ZNG1A 0 0 0 0 1 0 0 1
DPPA2 0 1 0 0 0 0 0 1
DPY19L2 0 0 0 0 1 0 0 1
DPY19L2, LOC130008194 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
ERCC4 0 0 1 0 0 0 0 1
FAM120B, PDCD2, PSMB1, TBP 0 0 1 0 0 0 0 1
FANCA 0 1 0 0 0 0 0 1
FHIT 0 0 0 0 1 0 0 1
FIGLA 0 0 1 0 0 0 0 1
FMN2, LOC126806069 0 0 1 0 0 0 0 1
FMR1, FRAXA, LOC107032825 0 0 0 0 1 0 0 1
FMR1, LOC107032825 0 0 0 1 0 0 0 1
FPR2, FPR3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF649, ZNF841 0 0 0 0 1 0 0 1
FYN 0 0 1 0 0 0 0 1
GALT 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, LOC126807344, 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
HAPSTR1 0 0 0 0 1 0 0 1
HS6ST3, MIR4501 0 0 0 0 1 0 0 1
IGF2R 0 1 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, LOC129389845 0 0 0 0 1 0 0 1
INHA 0 0 0 1 0 0 0 1
INSL6, JAK2 1 0 0 0 0 0 0 1
KANSL1 0 0 0 0 1 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, LOC122539213, LOC126859710 0 0 1 0 0 0 0 1
KDR 0 1 0 0 0 0 0 1
KHDRBS1 0 1 0 0 0 0 0 1
LARS2 0 0 1 0 0 0 0 1
LEPR 0 0 1 0 0 0 0 1
LINC00871 0 0 0 0 1 0 0 1
LINC01237, LINC01238, LINC01880, LINC01881, LINC03100, LOC122889016, LOC132205954, LOC285097 0 0 0 0 1 0 0 1
LINC01541 0 0 0 0 1 0 0 1
LINC02018, LOC112935961, LOC129937069, LOC129937070, LOC129937071, LOC129937072, LOC129937073 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
LINC02907 0 0 0 0 1 0 0 1
LINGO2 0 0 0 0 1 0 0 1
LOC105379224, LOC124049159, LOC126860297, LOC129999814, LOC129999815, LOC129999816, LOC129999817, LOC129999818, LOC129999819 0 0 0 0 1 0 0 1
LOC106780824, LOC125424402, LOC130067127, LOC130067128, LOC130067129, LOC130067130, LOC130067131, LOC130067132, LOC130067133, LOC130067134, MIR6817 0 0 0 0 1 0 0 1
LOC110121330 0 0 0 0 1 0 0 1
LOC113687185 0 0 0 0 1 0 0 1
LOC116268429, LOC116268430, LOC116268431, LOC124625898, LOC126861438, LOC129390395, LOC130007317, LOC130007318, SLC2A14, SLC2A3 0 0 0 0 1 0 0 1
LOC116276448, LOC126862291 0 0 0 0 1 0 0 1
LOC122056898, MIR12132, PATJ 0 0 1 0 0 0 0 1
LOC122094904, LOC129931240, SYT6 0 0 0 0 1 0 0 1
LOC122756690 0 0 0 0 1 0 0 1
LOC122861256, OSBPL6 0 0 0 0 1 0 0 1
LOC125371453, LOC129391033, LOC130063167, ZFR2 0 0 1 0 0 0 0 1
LOC126805813 0 0 0 0 1 0 0 1
LOC126807223, SPATA4, WDR17 0 0 1 0 0 0 0 1
LOC126860076 0 0 0 0 1 0 0 1
LOC126861571 0 0 0 0 1 0 0 1
LOC126861930 0 0 0 0 1 0 0 1
LOC129390101, LOC129390102 0 0 0 0 1 0 0 1
LOC129390953 0 0 0 0 1 0 0 1
LOC129994273, LOC129994274, LOC129994275, LOC129994276 0 0 0 0 1 0 0 1
LOC129997635, LOC129997636, PRKN 0 0 0 0 1 0 0 1
LOC129997800, LOC129997801, LOC129997802, LOC129997803, LOC129997804, LOC129997805, LOC129997806, LOC129997807, LOC129997808, LOC129997809, SNX8 0 0 1 0 0 0 0 1
LOC130003769 0 0 0 0 1 0 0 1
LOC130065435, LOC130065436, MACROD2 0 0 0 0 1 0 0 1
LOC132089650, PTGR1, ZNF483 0 0 1 0 0 0 0 1
LOC132090156, MIR1267, NALF1 0 0 0 0 1 0 0 1
LOC132090486 0 0 0 0 1 0 0 1
LRP2 0 0 0 0 1 0 0 1
LSM14A 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
MECOM 0 1 0 0 0 0 0 1
MLH3 0 1 0 0 0 0 0 1
MND1 0 1 0 0 0 0 0 1
MOV10 0 0 1 0 0 0 0 1
MRPS22 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
MYC 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
NLGN1 0 0 0 0 1 0 0 1
NOTCH2 0 1 0 0 0 0 0 1
NR5A2 0 1 0 0 0 0 0 1
NTRK1 0 1 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
OR8J1 0 0 0 0 1 0 0 1
PADI6 0 0 1 0 0 0 0 1
PARD3 0 0 1 0 0 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
PMM2 1 0 0 0 0 0 0 1
PNPLA4, PUDP, STS, VCX 0 0 1 0 0 0 0 1
PNPLA7 0 0 1 0 0 0 0 1
POLG 0 1 0 0 0 0 0 1
POR 0 1 0 0 0 0 0 1
POTEB 0 0 0 0 1 0 0 1
PPP4R1, RALBP1 0 0 1 0 0 0 0 1
PRIM1 0 0 1 0 0 0 0 1
PRKD1 0 0 1 0 0 0 0 1
PRLR 0 1 0 0 0 0 0 1
PSG1, PSG11, PSG6, PSG7 0 0 0 0 1 0 0 1
PWRN2 0 0 0 0 1 0 0 1
RAB19, SLC37A3 0 0 1 0 0 0 0 1
RAD51C 0 1 0 0 0 0 0 1
RAD54L 1 0 0 0 0 0 0 1
REC8 0 0 1 0 0 0 0 1
REST 0 0 1 0 0 0 0 1
RICTOR 0 1 0 0 0 0 0 1
RIMS2 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
SH2B1 0 1 0 0 0 0 0 1
SIRT6 0 1 0 0 0 0 0 1
SLC24A2 0 0 0 0 1 0 0 1
STAG3 1 0 0 0 0 0 0 1
TCERG1L 0 0 0 0 1 0 0 1
TG 0 0 1 0 0 0 0 1
THBS1 0 1 0 0 0 0 0 1
TMEM132D 0 0 0 0 1 0 0 1
TOP3B 0 0 0 0 1 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
WHAMM 0 0 1 0 0 0 0 1
WT1 0 1 0 0 0 0 0 1
WWOX 0 0 0 0 1 0 0 1
XPNPEP2 0 0 1 0 0 0 0 1
ZNF462 0 1 0 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: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu 3 2 50 0 165 0 0 220
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 7 37 20 0 0 0 0 64
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 10 1 1 0 0 13
OMIM 5 0 0 0 0 0 0 5
Natera, Inc. 0 0 0 1 4 0 0 5
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 1 2 0 4
Fulgent Genetics, Fulgent Genetics 0 0 1 1 2 0 0 4
Mendelics 0 0 0 1 2 0 0 3
Rajkovic Lab, University of Pittsburgh 2 0 0 0 0 0 1 3
Baylor Genetics 0 1 1 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
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 1 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, National Institutes of Health 1 0 0 0 0 0 0 1
MIND Institute, Wet lab, University of California Davis 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1

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