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Results: 6

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
PITX3Cataract, congenitalPathogenic/Likely pathogenic
(May 23, 2013)
classified by single submitter10102232043
2.
PITX3CATARACT 11, POSTERIOR POLAR, CATARACT 11, POSTERIOR POLAR, WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIESPathogenic/Likely pathogenic
(May 23, 2013)
classified by multiple submitters
3.
PITX3Anterior segment mesenchymal dysgenesis, CATARACT 11, POSTERIOR POLARPathogenic/Likely pathogenic
(May 23, 2013)
classified by multiple submitters
4.
See casesPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter1095112607 - 116776637
5.
ACADSB, ADD3, ADRA2A, ADRB1, ARL3, BNIP3, CASP7, CHUK, COL17A1, CTBP2, CYP17A1, DMBT1, DOCK1, DUSP5, EMX2, FGF8, FGFR2, GFRA1, PRLHR, GPR26, GRK5, HABP2, HMX2, TLX1, ABLIM1, MGMT, MKI67, MXI1, NDUFB8, NFKB2, NRAP, OAT, PAX2, PITX3, PNLIP, PNLIPRP1, PNLIPRP2, HTRA1, PSD, PTPRE, RGS10, SCD, FBXW4, SLC18A2, TAF5, TCF7L2, TECTB, TIAL1, UROS, WNT8B, XPNPEP1, SHOC2, ADAM12, EIF3A, GBF1, LDB1, BTRC, PKD2L1, INA, SMC3, NEURL1, BUB3, NOLC1, GSTO1, BAG3, SH3PXD2A, FAM53B, SLK, DCLRE1A, ACTR1A, SMNDC1, NPM3, GLRX3, DPYSL4, TACC2, LBX1, MGEA5, PRDX3, VAX1, ATE1, SEC23IP, RAB11FIP2, INPP5F, NT5C2, PDCD11, SORCS3, PPRC1, FAM175B, DPCD, SEC31B, ATRNL1, EDRF1, PDCD4, POLL, KCNIP2, CUZD1, CALHM2, CHST15, SUFU, ACSL5, ZRANB1, NSMCE4A, CNNM2, WBP1L, CCDC186, CWF19L1, HIF1AN, WDR11, FAM178A, DHX32, PPP2R2D, TDRD1, BCCIP, C10orf2, AS3MT, GPAM, KIAA1598, FAM160B1, SEMA4G, PLEKHA1, FAM204A, LHPP, IKZF5, ZDHHC6, CUEDC2, FBXL15, C10orf76, HPS6, TMEM180, MCMBP, C10orf95, PLEKHS1, PDZD7, OBFC1, C10orf88, CFAP43, LRRC27, TRIM8, KAZALD1, SFXN3, ELOVL3, PCGF6, LZTS2, MRPL43, AFAP1L2, USMG5, ITPRIP, BBIP1, FANK1, SORCS1, C10orf90, BTBD16, FAM24A, PSTK, MMP21, SFXN2, PDZD8, C10orf32, GSTO2, SFR1, CALHM3, CLRN3, PNLIPRP3, SFXN4, CPXM2, TRUB1, VTI1A, C10orf82, CACUL1, CFAP58, PWWP2B, EMX2OS, PPAPDC1A, FAM24B, EBF3, CALHM1, CASC2, TCERG1L, HSPA12A, JAKMIP3, STK32C, BLOC1S2, RBM20, KCNK18, VWA2, NANOS1, HMX3, NHLRC2, CCDC172, ENO4, ARMS2, TEX36, NKX1-2, C10orf120, METTL10, FOXI2, FAM45A, MIR146B, NPS, FAM196A, SNORA12, TLX1NB
See casesPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter10100194215 - 132432797
6.
ACADSB, ADAM8, ADD3, ADRA2A, ADRB1, ARL3, BNIP3, CASP7, ENTPD1, CHUK, ABCC2, COL17A1, COX15, CPN1, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, DMBT1, DNTT, DOCK1, DUSP5, ECHS1, EMX2, FGF8, FGFR2, GFRA1, GOT1, PRLHR, GPR26, GRK5, HABP2, HELLS, HHEX, HMX2, TLX1, HPS1, IDE, INPP5A, KIF11, ABLIM1, MGMT, MKI67, MXI1, NDUFB8, NFKB2, NRAP, OAT, PAX2, PDE6C, PGAM1, PITX3, PNLIP, PNLIPRP1, PNLIPRP2, PPP1R3C, HTRA1, PSD, PTPRE, ALDH18A1, RBP4, RGS10, SCD, SFRP5, FBXW4, SLC18A2, SLIT1, TAF5, TCF7L2, TECTB, TIAL1, TLL2, UROS, WNT8B, XPNPEP1, SHOC2, ADAM12, UTF1, EIF3A, GBF1, LDB1, BTRC, PKD2L1, BTAF1, INA, PDLIM1, SMC3, NEURL1, BUB3, LGI1, NOLC1, GSTO1, BAG3, SH3PXD2A, FAM53B, SLK, ZNF518A, DCLRE1A, FRAT1, ACTR1A, SMNDC1, NPM3, GLRX3, DPYSL4, TACC2, SORBS1, ERLIN1, LBX1, MGEA5, TUBGCP2, PRDX3, VAX1, ATE1, SEC23IP, RAB11FIP2, CPEB3, INPP5F, NT5C2, PDCD11, SORCS3, PPRC1, FAM175B, RRP12, TBC1D12, DNMBP, FRAT2, DPCD, SEC31B, ATRNL1, EDRF1, TCTN3, C10orf12, ANKRD2, CNNM1, MYOF, PDCD4, VENTX, R3HCC1L, POLL, BLNK, KCNIP2, CUZD1, CALY, EXOSC1, CALHM2, CUTC, PLCE1, CHST15, SUFU, ACSL5, EXOC6, CCNJ, MARCH5, ZRANB1, CFAP46, NSMCE4A, CNNM2, WBP1L, CCDC186, CRTAC1, CEP55, CWF19L1, PI4K2A, HIF1AN, WDR11, FAM178A, DHX32, PPP2R2D, TDRD1, BCCIP, C10orf2, TM9SF3, ENTPD7, AS3MT, GPAM, KIAA1598, FAM160B1, SEMA4G, PLEKHA1, AVPI1, HPSE2, FAM204A, LHPP, MMS19, NOC3L, IKZF5, ZDHHC6, CUEDC2, FBXL15, C10orf76, HPS6, TMEM180, MCMBP, C10orf95, PLEKHS1, PDZD7, OBFC1, C10orf88, UBTD1, CFAP43, LRRC27, TNKS2, TRIM8, KAZALD1, SFXN3, SLC25A28, ELOVL3, MARVELD1, PCGF6, LOXL4, ZDHHC16, PCGF5, GPR123, LZTS2, LCOR, NKX6-2, MRPL43, AFAP1L2, PYROXD2, USMG5, ARHGAP19, KNDC1, ITPRIP, MTG1, BBIP1, FANK1, OPALIN, SYCE1, HOGA1, SORCS1, PRAP1, ZNF511, C10orf90, BTBD16, FAM24A, PSTK, PIK3AP1, MORN4, ZFYVE27, MMP21, FRA10AC1, SFXN2, PDZD8, C10orf32, GSTO2, SFR1, CALHM3, CLRN3, PNLIPRP3, SFXN4, CPXM2, ACSM6, TRUB1, VTI1A, HECTD2, FGFBP3, C10orf82, CACUL1, NKX2-3, SLC35G1, CFAP58, C10orf91, PWWP2B, EMX2OS, PPAPDC1A, PAOX, FAM24B, EBF3, CALHM1, CASC2, TCERG1L, HSPA12A, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, FFAR4, KCNK18, CYP26C1, VWA2, NANOS1, HMX3, NHLRC2, CCDC172, CC2D2B, ENO4, ARMS2, TEX36, NKX1-2, C10orf120, METTL10, FOXI2, GOLGA7B, FAM45A, C10orf62, SPRN, MIR146B, NPS, FAM196A, SNORA12, TLX1NB, C10orf131
See casesPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter1091048545 - 133620674

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