ClinVar Miner

Variants from Shanghai First Maternity and Infant Hospital, Tongji University

Location: China  Primary collection method: clinical testing
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
16 9 4 0 0 29

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, USP41, ZDHHC8, ZNF74 2 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 2 0 0 2
AIFM3, CRKL, GGT2, HIC2, LZTR1, P2RX6, PI4KA, RIMBP3B, SERPIND1, SLC7A4, SNAP29, THAP7 0 2 0 2
AARD, ABRA, ADCK5, ADCY8, ADGRB1, AGO2, ANGPT1, ANKRD46, ANXA13, ARC, ARHGAP39, ASAP1, ASAP1-IT1, ATAD2, ATP6V1C1, AZIN1, BAALC, BOP1, C8orf17, C8orf33, C8orf76, C8orf82, CCDC166, CCN3, CCN4, CHRAC1, COL14A1, COL22A1, COLEC10, COMMD5, COX6C, CPQ, CPSF1, CSMD3, CTHRC1, CYC1, CYP11B1, CYP11B2, CYRIB, DCAF13, DCSTAMP, DENND3, DEPTOR, DERL1, DGAT1, DNAAF11, DPYS, DSCC1, EBAG9, EEF1D, EFR3A, EIF3E, EIF3H, EMC2, ENPP2, ENY2, EPPK1, ERICH5, EXOSC4, EXT1, FAM135B, FAM83A, FAM83H, FAM91A1, FBXL6, FBXO32, FBXO43, FER1L6, FOXH1, FZD6, GDF6, GFUS, GLI4, GML, GPAA1, GPIHBP1, GPR20, GPT, GRHL2, GRINA, GSDMC, GSDMD, HAS2, HGH1, HHLA1, HSF1, JRK, KCNK9, KCNQ3, KCNS2, KCNV1, KHDRBS3, KIFC2, KLF10, KLHL38, LAPTM4B, LINC00536, LRATD2, LRP12, LRRC14, LRRC24, LY6D, LY6E, LY6H, LY6K, LY6S, LYNX1, LYPD2, MAF1, MAFA, MAL2, MAPK15, MATN2, MED30, MFSD3, MIR1234, MIR661, MROH1, MROH5, MROH6, MRPL13, MTBP, MTDH, MTERF3, MTSS1, MYC, NAPRT, NCALD, NDRG1, NDUFB9, NIPAL2, NRBP2, NSMCE2, NTAQ1, NUDCD1, OC90, ODF1, OPLAH, OSR2, OXR1, PABPC1, PARP10, PCAT1, PHF20L1, PKHD1L1, PLEC, POLR2K, POP1, POU5F1B, PPP1R16A, PSCA, PTDSS1, PTK2, PTP4A3, PUF60, PVT1, PYCR3, RAD21, RECQL4, RGS22, RHPN1, RIDA, RIMS2, RNF139, RNF19A, RPL30, RPL8, RRM2B, RSPO2, SAMD12, SCRIB, SCRT1, SCX, SDC2, SHARPIN, SLA, SLC25A32, SLC30A8, SLC39A4, SLC45A4, SLC52A2, SLURP1, SNTB1, SNX31, SPAG1, SPATC1, SQLE, ST3GAL1, STK3, SYBU, TAF2, TATDN1, TBC1D31, TG, THEM6, TIGD5, TMEM249, TMEM65, TMEM71, TMEM74, TNFRSF11B, TONSL, TOP1MT, TRAPPC9, TRHR, TRIB1, TRMT12, TRPS1, TSNARE1, TSPYL5, UBR5, UBR5-DT, UQCRB, UTP23, VPS13B, VPS28, WASHC5, YWHAZ, ZC3H3, ZFAT, ZFP41, ZFPM2, ZFTRAF1, ZHX1, ZHX1-C8orf76, ZHX2, ZNF16, ZNF250, ZNF251, ZNF34, ZNF517, ZNF572, ZNF623, ZNF696, ZNF7, ZNF706, ZNF707 1 0 0 1
AARS1, ABCC11, ABCC12, ACD, ACSF3, ADAD2, ADAMTS18, ADAT1, ADCY7, ADGRG1, ADGRG3, ADGRG5, AGRP, AKTIP, AMFR, ANKRD11, AP1G1, APRT, ARL2BP, ATMIN, ATP2C2, ATP6V0D1, ATXN1L, B3GNT9, BANP, BBS2, BCAR1, BCO1, BEAN1, BRD7, C16orf46, C16orf47, C16orf74, C16orf78, C16orf86, C16orf87, C16orf95, CA5A, CA7, CALB2, CAPNS2, CARMIL2, CBFA2T3, CBFB, CBLN1, CCDC102A, CCL17, CCL22, CDH1, CDH11, CDH13, CDH15, CDH16, CDH3, CDH5, CDH8, CDK10, CDT1, CDYL2, CENPBD1, CENPN, CENPT, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP20, CFAP263, CFDP1, CHD9, CHMP1A, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CIAPIN1, CIBAR2, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNEP1R1, CNGB1, CNOT1, CNTNAP4, COG4, COG8, COQ9, COTL1, COX4I1, CPNE2, CPNE7, CRISPLD2, CSNK2A2, CTCF, CTRB1, CTRB2, CTRL, CTU2, CX3CL1, CYB5B, CYBA, CYLD, DBNDD1, DDX19A, DDX19B, DDX28, DEF8, DHODH, DHX38, DNAAF1, DNAJA2, DOK4, DPEP1, DPEP2, DPEP3, DRC7, DUS2, DYNC1LI2, DYNLRB2, E2F4, EDC4, ELMO3, EMC8, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FANCA, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FOXC2, FOXF1, FOXL1, FTO, GABARAPL2, GALNS, GAN, GAS8, GCSH, GFOD2, GINS2, GINS3, GLG1, GNAO1, GOT2, GPT2, GSE1, HAS3, HEATR3, HERPUD1, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSDL1, HSF4, HYDIN, IL17C, IL34, IRF8, IRX3, IRX5, IRX6, IST1, ITFG1, JPH3, KARS1, KATNB1, KCNG4, KCTD19, KIAA0513, KIFC3, KLHDC4, KLHL36, LCAT, LDHD, LINC01082, LINC02911, LOC101927817, LOC101928417, LOC400541, LOC654780, LONP2, LPCAT2, LRRC29, LRRC36, MAF, MAP1LC3B, MARVELD3, MATCAP1, MBTPS1, MC1R, MEAK7, MIR138-2, MIR140, MIR328, MLKL, MLYCD, MMP15, MMP2, MON1B, MPHOSPH6, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MTHFSD, MTSS2, MVD, MYLK3, N4BP1, NAE1, NDRG4, NECAB2, NETO2, NFAT5, NFATC3, NIP7, NKD1, NLRC5, NOB1, NOD2, NOL3, NPIPB15, NQO1, NRN1L, NUDT21, NUDT7, NUP93, NUTF2, OGFOD1, ORC6, OSGIN1, PABPN1L, PARD6A, PDF, PDP2, PDPR, PHAF1, PHKB, PHLPP2, PIEZO1, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PLLP, PMFBP1, POLR2C, PRDM7, PRMT7, PRSS54, PSKH1, PSMB10, PSMD7, PSME3IP1, RANBP10, RBL2, RFWD3, RIPOR1, RNF166, RPGRIP1L, RPL13, RRAD, RSPRY1, SALL1, SDR42E1, SETD6, SF3B3, SHCBP1, SIAH1, SLC12A3, SLC12A4, SLC22A31, SLC38A7, SLC38A8, SLC6A2, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNAI3, SNTB2, SNX20, SPATA2L, SPATA33, SPG7, SPIRE2, SPMIP8, ST3GAL2, SYCE1L, TAF1C, TANGO6, TAT, TCF25, TENT4B, TERB1, TERF2, TERF2IP, THAP11, TK2, TMED6, TMEM170A, TMEM208, TMEM231, TOX3, TPPP3, TRADD, TRAPPC2L, TSNAXIP1, TUBB3, TXNL4B, USB1, USP10, UTP4, VAC14, VAT1L, VPS35, VPS4A, VPS9D1, WDR59, WFDC1, WWOX, WWP2, ZC3H18, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFP1, ZFP90, ZFPM1, ZNF19, ZNF23, ZNF276, ZNF319, ZNF423, ZNF469, ZNF778, ZNF821, ZNRF1 1 0 0 1
AARS2, ADGRF1, ADGRF2, ADGRF4, ADGRF5, ANKRD66, BAG2, BEND6, BMP5, C6orf141, CAPN11, CD2AP, CDC5L, CENPQ, CILK1, CLIC5, COL21A1, CRISP1, CRISP2, CRISP3, CYP39A1, DEFB110, DEFB112, DEFB113, DEFB114, EFHC1, ELOVL5, ENPP4, ENPP5, EYS, FAM83B, FBXO9, GCLC, GCM1, GFRAL, GLYATL3, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, HCRTR2, HMGCLL1, HSP90AB1, IL17A, IL17F, KHDRBS2, KIAA1586, KLHL31, LGSN, LINC03040, LOC101926915, LOC101927189, LRRC1, MCM3, MEP1A, MIR133B, MIR206, MLIP, MMUT, MRPL14, MRPS18A, NFKBIE, OPN5, PAQR8, PGK2, PHF3, PKHD1, PLA2G7, PTCHD4, PTP4A1, RAB23, RCAN2, RHAG, RN7SK, RSPH9, RUNX2, SLC25A27, SLC29A1, SLC35B2, SPATS1, SUPT3H, TCTE1, TDRD6, TFAP2B, TFAP2D, TINAG, TMEM14A, TMEM151B, TMEM63B, TNFRSF21, TRAM2, VEGFA, ZNF451 0 1 0 1
ADA2, ATP6V1E1, BCL2L13, BID, CCT8L2, CECR2, CECR3, GAB4, HDHD5, IL17RA, MICAL3, PEX26, SLC25A18, TMEM121B, TUBA8, USP18, XKR3 1 0 0 1
ADORA2A, BCR, C22orf15, CABIN1, CHCHD10, DDT, DDTL, DERL3, DRICH1, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GUCD1, IGLL1, LRRC75B, MIF, MMP11, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SUSD2, UPB1, VPREB3, ZNF70 0 0 1 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RIMBP3C, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TMEM191C, TRMT2A, TSSK2, TXNRD2, UBE2L3, UFD1, USP18, USP41, ZDHHC8, ZNF74 1 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, USP41, ZDHHC8, ZNF74 1 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 1
AIFM3, ARVCF, COMT, CRKL, DGCR6L, DGCR8, FAM230A, GGTLC3, GNB1L, KLHL22, LZTR1, MED15, P2RX6, PI4KA, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SERPIND1, SLC7A4, SNAP29, TANGO2, THAP7, TMEM191B, TRMT2A, TXNRD2, USP41, ZDHHC8, ZNF74 1 0 0 1
AIFM3, CRKL, GGT2, HIC2, KLHL22, LZTR1, MED15, P2RX6, PI4KA, RIMBP3B, SCARF2, SERPIND1, SLC7A4, SNAP29, THAP7, USP41, ZNF74 0 1 0 1
AIFM3, CRKL, KLHL22, LZTR1, MED15, P2RX6, PI4KA, SCARF2, SERPIND1, SLC7A4, SNAP29, THAP7, USP41, ZNF74 0 0 1 1
AIFM3, CRKL, LZTR1, MED15, P2RX6, PI4KA, SERPIND1, SLC7A4, SNAP29, THAP7 0 1 0 1
AIFM3, CRKL, LZTR1, P2RX6, PI4KA, SERPIND1, SLC7A4, SNAP29, THAP7 0 0 1 1
AMELY, BPY2, BPY2B, BPY2C, CDY1, CDY2A, DAZ1, DAZ2, DAZ3, DAZ4, DDX3Y, EIF1AY, FAM197Y10, FAM197Y1P, FAM197Y9, HSFY1, HSFY2, KDM5D, NLGN4Y, PCDH11Y, PRORY, PRY, PRY2, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1J, RPS4Y1, RPS4Y2, SRY, TBL1Y, TGIF2LY, TMSB4Y, TSPY1, TSPY10, TSPY2, TSPY3, TSPY4, TSPY8, TTTY1, TTTY10, TTTY11, TTTY12, TTTY13, TTTY13B, TTTY14, TTTY15, TTTY16, TTTY17A, TTTY17B, TTTY17C, TTTY18, TTTY19, TTTY1B, TTTY2, TTTY20, TTTY21, TTTY21B, TTTY22, TTTY23, TTTY23B, TTTY2B, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B, TTTY7, TTTY7B, TTTY8, TTTY8B, TTTY9A, TTTY9B, USP9Y, UTY, VCY, VCY1B, ZFY 1 0 0 1
ARL13B, ARL6, C3orf38, CADM2, CGGBP1, CHMP2B, CLDND1, CMSS1, CNTN3, COL8A1, CPOX, CRYBG3, DCBLD2, DHFR2, EBLN2, EPHA3, EPHA6, FILIP1L, FRG2C, GABRR3, GBE1, GPR15, GXYLT2, HTR1F, NSUN3, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5K1, OR5K2, OR5K3, OR5K4, PDZRN3, POU1F1, PPP4R2, PROS1, RIOX2, ROBO1, ROBO2, RYBP, SHQ1, ST3GAL6, STX19, VGLL3, ZNF654, ZNF717 0 1 0 1
BCR, GNAZ, IGLC1, IGLL5, RAB36, RSPH14 0 0 1 1
BPHL, EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B, IRF4, LINC01600, MYLK4, NQO2, PSMG4, RIPK1, SERPINB1, SERPINB6, SERPINB9, SLC22A23, TUBB2A, TUBB2B, WRNIP1 1 0 0 1
BPY2, BPY2B, BPY2C, CDY1, CDY2A, DAZ1, DAZ2, DAZ3, DAZ4, DDX3Y, EIF1AY, FAM197Y10, HSFY1, HSFY2, KDM5D, NLGN4Y, PRORY, PRY, PRY2, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1J, RPS4Y2, TMSB4Y, TTTY10, TTTY13, TTTY14, TTTY15, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B, TTTY9A, TTTY9B, USP9Y, UTY, VCY, VCY1B 1 0 0 1
FGFR3 1 0 0 1
PIGA 0 1 0 1
PKD1 0 1 0 1
PLP1, RAB9B 0 1 0 1

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance total
not provided 4 2 0 6
Velocardiofacial syndrome; DiGeorge syndrome 5 0 0 5
22q11.2 central deletion syndrome 0 4 0 4
Chromosome 22q11.2 microduplication syndrome 4 0 0 4
22q11.2 central duplication syndrome 0 0 2 2
22q11.2 distal duplication syndrome 0 0 2 2
Axenfeld-Rieger syndrome type 3 1 0 0 1
Cat eye syndrome 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 1 0 1
Pelizaeus-Merzbacher disease 0 1 0 1
Polycystic kidney disease, adult type 0 1 0 1
Thanatophoric dysplasia type 1 1 0 0 1

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