ClinVar Miner

Variants from Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea

Location: Korea, Republic of  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 affects total
85 13 4 0 0 3 105

Gene and significance breakdown #

Total genes and gene combinations: 74
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Gene or gene combination pathogenic likely pathogenic uncertain significance affects total
DYSF 2 2 0 0 4
CACNA1A 3 0 0 0 3
DNMT3A 3 0 0 0 3
GNE 2 0 0 1 3
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 2 0 0 0 2
ALDH3A2 2 0 0 0 2
ANO5 1 0 0 1 2
ASXL3 2 0 0 0 2
CAPN3 2 0 0 0 2
CPLANE1 1 1 0 0 2
CREBBP 2 0 0 0 2
CYFIP1, NIPA1, NIPA2, TUBGCP5 2 0 0 0 2
DES 2 0 0 0 2
DMD 2 0 0 0 2
EIF2B3 0 0 2 0 2
GJB1 2 0 0 0 2
LMNA 1 0 1 0 2
NSD1 2 0 0 0 2
NT5C2 1 1 0 0 2
PTEN 2 0 0 0 2
RYR1 1 1 0 0 2
SACS 0 1 0 1 2
SPAST 2 0 0 0 2
SPG11 2 0 0 0 2
TTN 2 0 0 0 2
WDR62 0 2 0 0 2
A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADD3, ADGRA1, ADIRF, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASCC1, ATAD1, ATE1, ATOH7, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf120, C10orf126, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf88, C10orf90, C10orf95, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDC123, CDH23, CDHR1, CDK1, CDNF, CELF2, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHTKD1, DHX32, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13B, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHDC3, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GBF1, GDF10, GDF2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR15LG, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KLLN, KNDC1, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MBL2, MCM10, MCMBP, MCU, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, MTG1, MTPAP, MTRNR2L5, MTRNR2L7, MXI1, MYO3A, MYOF, MYOZ1, MYPN, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUDT5, NUTM2A, NUTM2B, OAT, ODAD2, OGA, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDSS1, PDZD7, PDZD8, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKG1, PRLHR, PROSER2, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEC61A2, SEMA4G, SEPHS1, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPMIP5, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF5, TBATA, TBC1D12, TCERG1L, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UNC5B, UPF2, UROS, USP54, USP6NL, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZNF22, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT 1 0 0 0 1
A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADD3, ADGRA1, ADIRF, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASCC1, ATAD1, ATE1, ATOH7, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf120, C10orf126, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf88, C10orf90, C10orf95, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDH23, CDHR1, CDK1, CDNF, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHX32, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13B, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GBF1, GDF10, GDF2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR15LG, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KLLN, KNDC1, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MBL2, MCM10, MCMBP, MCU, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, MTG1, MTPAP, MTRNR2L5, MTRNR2L7, MXI1, MYO3A, MYOF, MYOZ1, MYPN, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUTM2A, NUTM2B, OAT, ODAD2, OGA, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDSS1, PDZD7, PDZD8, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKG1, PRLHR, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEMA4G, SEPHS1, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPMIP5, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF5, TBATA, TBC1D12, TCERG1L, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UNC5B, UROS, USP54, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZNF22, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT 1 0 0 0 1
AATF, ACACA, AP2B1, ASIC2, C17orf50, C17orf75, C17orf78, CCL1, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL2, CCL23, CCL3, CCL3L1, CCL3L3, CCL4, CCL4L1, CCL4L2, CCL5, CCL7, CCL8, CCT6B, CDK5R1, DHRS11, FNDC8, GAS2L2, GGNBP2, HEATR9, LHX1, LIG3, LYZL6, MMP28, MRM1, MYO19, MYO1D, NLE1, PEX12, PIGW, PSMD11, RAD51D, RASL10B, RDM1, RFFL, RHBDL3, SLC35G3, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SPACA3, TADA2A, TAF15, TBC1D3B, TBC1D3C, TBC1D3H, TMEM132E, TMEM132E-DT, TMEM98, UNC45B, ZNF207, ZNF830, ZNHIT3 1 0 0 0 1
ABCC9 1 0 0 0 1
ABLIM1, ABRAXAS2, ACADSB, ACSL5, ADAM12, ADAM8, ADD3, ADGRA1, ADRA2A, ADRB1, AFAP1L2, ARMS2, ATE1, ATRNL1, BAG3, BBIP1, BCCIP, BNIP3, BTBD16, BUB3, C10orf120, C10orf88, C10orf90, CACUL1, CALY, CASC2, CASP7, CCDC172, CCDC186, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CUZD1, CYP2E1, DCLRE1A, DENND10, DHX32, DMBT1, DOCK1, DPYSL4, DUSP5, EBF3, ECHS1, EDRF1, EEF1AKMT2, EIF3A, EMX2, EMX2OS, ENO4, FAM204A, FAM24A, FAM24B, FAM53B, FANK1, FGFR2, FHIP2A, FOXI2, FUOM, GFRA1, GLRX3, GPAM, GPR26, GRK5, HABP2, HMX2, HMX3, HSPA12A, HTRA1, IKZF5, INPP5A, INPP5F, INSYN2A, JAKMIP3, KCNK18, KNDC1, LHPP, LINC01166, LINC02870, LRRC27, MCMBP, MGMT, MKI67, MMP21, MTG1, MXI1, NANOS1, NHLRC2, NKX1-2, NKX6-2, NPS, NRAP, NSMCE4A, OAT, PAOX, PDCD4, PDZD8, PLEKHA1, PLEKHS1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PPP2R2D, PRAP1, PRDX3, PRLHR, PSTK, PTPRE, PWWP2B, RAB11FIP2, RBM20, RGS10, SEC23IP, SFXN4, SHOC2, SHTN1, SLC18A2, SMC3, SMNDC1, SPMIP5, SPRN, STK32C, SYCE1, TACC2, TCERG1L, TCF7L2, TDRD1, TECTB, TEX36, TIAL1, TRUB1, TUBGCP2, UROS, UTF1, VAX1, VENTX, VTI1A, VWA2, WDR11, XPNPEP1, ZDHHC6, ZNF511, ZRANB1 1 0 0 0 1
ABLIM2, ACOX3, ADD1, ADGRA3, ADRA2C, AFAP1, ANAPC4, ATP5ME, BLOC1S4, BOD1L1, BST1, C1QTNF7, C4orf50, CC2D2A, CCDC149, CCDC96, CCKAR, CD38, CLNK, CLRN2, CPEB2, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CYTL1, DCAF16, DEFB131A, DGKQ, DHX15, DOK7, DRD5, EVC, EVC2, FAM184B, FAM193A, FAM200B, FAM53A, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, GAK, GBA3, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, IDUA, JAKMIP1, KCNIP4, KIAA0232, LAP3, LCORL, LDB2, LETM1, LGI2, LINC01587, LRPAP1, LYAR, MAEA, MAN2B2, MED28, MFSD10, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NCAPG, NELFA, NICOL1, NKX1-1, NKX3-2, NOP14, NSD2, NSG1, OTOP1, PACRGL, PCDH7, PCGF3, PDE6B, PI4K2B, PIGG, POLN, PPARGC1A, PPP2R2C, PROM1, PSAPL1, QDPR, RAB28, RBPJ, RGS12, RNF212, RNF4, S100P, SEL1L3, SEPSECS, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC2A9, SLC34A2, SLC49A3, SLIT2, SMIM20, SOD3, SORCS2, SPON2, STIM2, STK32B, STX18, TACC3, TADA2B, TAPT1, TBC1D14, TBC1D19, TMEM128, TMEM129, TMEM175, TNIP2, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WDR1, WFS1, ZBTB49, ZCCHC4, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732 1 0 0 0 1
ABRAXAS2, ACADSB, ADAM12, ADAM8, ADGRA1, ARMS2, ATE1, BCCIP, BNIP3, BTBD16, BUB3, C10orf120, C10orf88, C10orf90, CALY, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CUZD1, CYP2E1, DHX32, DMBT1, DOCK1, DPYSL4, EBF3, ECHS1, EDRF1, EEF1AKMT2, FAM24A, FAM24B, FAM53B, FANK1, FOXI2, FUOM, GLRX3, GPR26, HMX2, HMX3, HTRA1, IKZF5, INPP5A, INSYN2A, JAKMIP3, KNDC1, LHPP, LINC01166, LINC02870, LRRC27, MGMT, MKI67, MMP21, MTG1, NKX1-2, NKX6-2, NPS, NSMCE4A, OAT, PAOX, PLEKHA1, PPP2R2D, PRAP1, PSTK, PTPRE, PWWP2B, SPRN, STK32C, SYCE1, TACC2, TCERG1L, TEX36, TUBGCP2, UROS, UTF1, VENTX, ZNF511, ZRANB1 1 0 0 0 1
ACOT7, ACTRT2, AJAP1, ARHGEF16, C1orf174, CCDC27, CEP104, CHD5, DFFB, ESPN, FAAP20, GABRD, GPR153, HES2, HES3, HES5, ICMT, KCNAB2, LRRC47, MEGF6, MIR551A, MMEL1, MORN1, NPHP4, PANK4, PEX10, PLCH2, PLEKHG5, PRDM16, PRKCZ, PRXL2B, RER1, RNF207, RPL22, SKI, SMIM1, TNFRSF14, TNFRSF25, TP73, TPRG1L, TTC34, WRAP73 1 0 0 0 1
ACOX1, ARMC7, ATP5PD, CASKIN2, CDK3, CDR2L, EVPL, EXOC7, FADS6, FBF1, FDXR, FOXJ1, GALK1, GALR2, GGA3, GRB2, GRIN2C, H3-3B, HID1, ITGB4, JPT1, KCTD2, LLGL2, MIF4GD, MRPL38, MRPL58, MRPS7, NAT9, NHERF1, NT5C, NUP85, OTOP2, OTOP3, RAB37, RECQL5, RNF157, SAP30BP, SLC16A5, SLC25A19, SMIM5, SMIM6, SRP68, SUMO2, TEN1, TMEM104, TMEM94, TRIM47, TRIM65, TSEN54, UNC13D, UNK, USH1G, WBP2, ZACN 1 0 0 0 1
ACP1, ALKAL2, FAM110C, MYT1L, PXDN, SH3YL1, SNTG2, TMEM18, TPO 1 0 0 0 1
ACTA1 0 1 0 0 1
ADAM8, ADGRA1, BNIP3, CALY, CFAP46, CLRN3, CYP2E1, DOCK1, DPYSL4, EBF3, ECHS1, FOXI2, FUOM, GLRX3, INPP5A, INSYN2A, JAKMIP3, KNDC1, LINC01166, LINC02870, LRRC27, MGMT, MKI67, MTG1, NKX6-2, NPS, PAOX, PPP2R2D, PRAP1, PTPRE, PWWP2B, SPRN, STK32C, SYCE1, TCERG1L, TUBGCP2, UTF1, VENTX, ZNF511 1 0 0 0 1
ADCY8, AGO2, ASAP1, ASAP1-IT1, C8orf17, CCN4, CHRAC1, COL22A1, DENND3, DNAAF11, EFR3A, FAM135B, GPR20, HHLA1, KCNK9, KCNQ3, KHDRBS3, MROH5, NDRG1, OC90, PHF20L1, PTK2, PTP4A3, SLA, SLC45A4, ST3GAL1, TG, TMEM71, TRAPPC9, TSNARE1, ZFAT 1 0 0 0 1
ADNP2, ATP9B, C18orf63, CBLN2, CCDC102B, CD226, CNDP1, CNDP2, CTDP1, CYB5A, DIPK1C, DOK6, FBXO15, GALR1, HSBP1L1, KCNG2, LINC00683, LINC01879, MBP, NETO1, NFATC1, PARD6G, PTGR3, RBFA, RTTN, SALL3, SLC66A2, SMIM21, SOCS6, TIMM21, TMX3, TSHZ1, TXNL4A, ZNF236, ZNF407, ZNF516 1 0 0 0 1
ADPGK, ARID3B, BBS4, C15orf39, CCDC33, CD276, CIMAP1C, CLK3, COMMD4, COX5A, CPLX3, CSK, CSPG4, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, HCN4, IMP3, INSYN1, ISLR, ISLR2, LMAN1L, LOXL1, MAN2C1, MPI, NEIL1, NEO1, NPTN, PML, PPCDC, PTPN9, REC114, RPP25, SCAMP2, SCAMP5, SEMA7A, SIN3A, SNUPN, SNX33, STOML1, STRA6, TBC1D21, UBL7, ULK3 1 0 0 0 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 0 0 0 1
ANO9, B4GALNT4, CDHR5, DEAF1, DRD4, EPS8L2, HRAS, IFITM1, IFITM2, IFITM3, IFITM5, IRF7, LMNTD2, LRRC56, MIR210, MIR210HG, NLRP6, PGGHG, PHRF1, PKP3, PTDSS2, RASSF7, RNH1, SCT, SIGIRR, TALDO1, TMEM80 1 0 0 0 1
ANXA13, FAM91A1, FBXO32, FER1L6, KLHL38, LRATD2, MTSS1, MYC, NDUFB9, NSMCE2, PCAT1, POU5F1B, PVT1, RNF139, SQLE, TATDN1, TMEM65, TRIB1, TRMT12, WASHC5, ZNF572 1 0 0 0 1
APBA2, ATP10A, CYFIP1, ENTREP2, GABRA5, GABRB3, GABRG3, GOLGA6L2, GOLGA8J, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TUBGCP5, UBE3A 1 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 1
ASF1A, CALHM4, CALHM5, CALHM6, CEP85L, CLVS2, COL10A1, DCBLD1, DSE, FABP7, FAM162B, FAM184A, FRK, GJA1, GOPC, GPRC6A, HDAC2, HS3ST5, HSF2, KPNA5, MAN1A1, MARCKS, MCM9, NT5DC1, NUS1, PKIB, PLN, RFX6, ROS1, RSPH4A, RWDD1, SERINC1, SLC35F1, SMPDL3A, TBC1D32, TRAPPC3L, TRDN, TSPYL1, TSPYL4, VGLL2, ZUP1 0 1 0 0 1
ATM 1 0 0 0 1
ATM, LOC128772354, LOC130006698, NPAT 1 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 1 0 0 0 1
C12orf60, WBP11 1 0 0 0 1
CACNA1E 1 0 0 0 1
CHD3 1 0 0 0 1
CHD7 1 0 0 0 1
CHD8 1 0 0 0 1
CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 1
CTNNB1, LOC126806658 1 0 0 0 1
CYP27A1 1 0 0 0 1
EMD 1 0 0 0 1
EP300 1 0 0 0 1
GRIN2B 1 0 0 0 1
H1-4 1 0 0 0 1
INF2 0 1 0 0 1
KAT6B 1 0 0 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 1
MED13L 1 0 0 0 1
MEIS2 1 0 0 0 1
MFN2 1 0 0 0 1
MYH7 0 1 0 0 1
PMP22 1 0 0 0 1
REEP1 0 0 1 0 1
SPEN 1 0 0 0 1
TRIP12 0 1 0 0 1
VPS13B 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 71
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance affects total
Autosomal recessive limb-girdle muscular dystrophy type 2B 2 2 0 0 4
7q11.23 microduplication syndrome 3 0 0 0 3
Distal 10q deletion syndrome 3 0 0 0 3
GNE myopathy 2 0 0 1 3
Ataxia-telangiectasia syndrome 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 1 0 0 1 2
Charcot-Marie-Tooth disease X-linked dominant 1 2 0 0 0 2
Charlevoix-Saguenay spastic ataxia 0 1 0 1 2
Chromosome 15q11.2 deletion syndrome 2 0 0 0 2
Congenital multicore myopathy with external ophthalmoplegia 1 1 0 0 2
Cowden syndrome 1 2 0 0 0 2
Desmin-related myofibrillar myopathy 2 0 0 0 2
Distal trisomy 10q 2 0 0 0 2
Distal trisomy 8q 2 0 0 0 2
Duchenne muscular dystrophy 2 0 0 0 2
Early-onset myopathy with fatal cardiomyopathy; Congenital titinopathy 2 0 0 0 2
Episodic ataxia type 2 2 0 0 0 2
Hereditary spastic paraplegia 11 2 0 0 0 2
Hereditary spastic paraplegia 4 2 0 0 0 2
Hereditary spastic paraplegia 45 1 1 0 0 2
Joubert syndrome 17 1 1 0 0 2
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 2 0 0 2
Rubinstein-Taybi syndrome due to CREBBP mutations 2 0 0 0 2
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2 0 0 0 2
Sjögren-Larsson syndrome 2 0 0 0 2
Sotos syndrome 2 0 0 0 2
Tatton-Brown-Rahman overgrowth syndrome 2 0 0 0 2
Vanishing white matter disease 0 0 2 0 2
15q11q13 microduplication syndrome 1 0 0 0 1
4p16.3 microduplication syndrome 1 0 0 0 1
6q terminal deletion syndrome 0 1 0 0 1
Actin accumulation myopathy; ACTA1 gene related myopathy 0 1 0 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 1 0 0 0 1
Ataxia _ Neurologic (child onset); Non-progressive congenital cerebellar ataxia 1 0 0 0 1
Beckwith-Wiedemann syndrome due to 11p15 microdeletion 1 0 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 0 1
CHARGE association 1 0 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 0 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 1 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate E 0 1 0 0 1
Charcot-Marie-Tooth disease type 1E 1 0 0 0 1
Charcot-Marie-Tooth disease type 2A2 1 0 0 0 1
Cholestanol storage disease 1 0 0 0 1
Chromosome 15q13.3 microdeletion syndrome 1 0 0 0 1
Chromosome 15q24 deletion syndrome 1 0 0 0 1
Chromosome 17q12 deletion syndrome 1 0 0 0 1
Chromosome 1p36 deletion syndrome 1 0 0 0 1
Chromosome 1q21.1 deletion syndrome 1 0 0 0 1
Chromosome 22q11.2 microduplication syndrome 1 0 0 0 1
Clark-Baraitser syndrome 0 1 0 0 1
Cohen syndrome 1 0 0 0 1
Congenital muscular dystrophy due to LMNA mutation 1 0 0 0 1
Deletion of long arm of chromosome 18 1 0 0 0 1
Developmental and epileptic encephalopathy, 69 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 0 1 0 1
Hereditary spastic paraplegia 31 0 0 1 0 1
Heyn-Sproul-Jackson syndrome 1 0 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 1 0 0 0 1
Intellectual developmental disorder with autism and macrocephaly 1 0 0 0 1
Intellectual disability, autosomal dominant 39 1 0 0 0 1
Intellectual disability, autosomal dominant 6 1 0 0 0 1
Myosin storage myopathy 0 1 0 0 1
Neuronopathy, distal hereditary motor, type 5A; Hereditary spastic paraplegia 17 1 0 0 0 1
Radio-Tartaglia syndrome 1 0 0 0 1
Rahman syndrome 1 0 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 1
Snijders Blok-Campeau syndrome 1 0 0 0 1
Vertebral, cardiac, tracheoesophageal, renal, and limb defects 1 0 0 0 1
X-linked Emery-Dreifuss muscular dystrophy 1 0 0 0 1

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