Variant Information for Gene: AAAS AAGAB AARS2 AASS ABAT ABCA1 ABCA12 ABCA3 ABCA4 ABCA5 ABCA7 ABCB11 ABCB4 ABCB6 ABCB7 ABCC2 ABCC6 ABCC8 ABCC9 ABCD1 ABCG5 ABCG8 ABHD5 ABL1 ACAD8 ACADM ACADS ACADSB ACADVL ACAN ACAT1 ACD ACO2 ACOX1 ACP4 ACP5 ACSF3 ACSL4 ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACTG2 ACTN2 ACTN4 ACVR1 ACVRL1 ACY1 ADA ADA2 ADAM9 ADAMTS10 ADAMTS13 ADAMTS2 ADAMTS3 ADAMTSL2 ADAMTSL4 ADAR ADCY5 ADGRE2 ADGRG1 ADGRG2 ADGRV1 ADNP ADSL AFF2 AFF4 AFG3L2 AGA AGBL1 AGBL5 AGK AGL AGPAT2 AGSPX AGTPBP1 AGXT AHCY AHDC1 AHI1 AHR AHSG AICDA AIFM1 AIH3 AIMP1 AIP AIPL1 AIRE AK2 AKAP9 AKR1D1 AKT1 AKT3 ALAS2 ALB ALDH18A1 ALDH1A3 ALDH3A2 ALDH4A1 ALDH5A1 ALDH7A1 ALDOA ALDOB ALG1 ALG10B ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 ALK ALMS1 ALOX12B ALOXE3 ALPL ALS2 ALX4 AMACR AMBN AMELX AMER1 AMH AMHR2 AMN AMPD1 AMPD3 ANG ANIB2 ANK1 ANK2 ANKFY1 ANKH ANKLE2 ANKRD1 ANKRD11 ANKRD26 ANKRD55 ANKS3 ANLN ANO5 ANO6 ANOS1 ANTXR1 ANTXR2 ANXA11 AP1B1 AP1S2 AP1S3 AP2M1 AP2S1 AP3B1 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 APCDD1 APMR2 APOA1 APOA5 APOB APOC2 APOE APOL1 APP APPL1 APRT APTX AQP2 AQP5 AR ARF1 ARFGEF2 ARG1 ARHGAP24 ARHGAP31 ARHGDIA ARHGEF18 ARID1A ARID1B ARID2 ARL11 ARL13B ARL2BP ARL3 ARL6 ARL6IP6 ARMC5 ARMC9 ARNT2 ARSG ARSL ARVCF ARX ASAH1 ASH1L ASL ASPM ASPSCR1 ASXL1 ASXL3 ATAD1 ATF6 ATL1 ATL3 ATM ATN1 ATP11A ATP13A2 ATP1A2 ATP1A3 ATP2A1 ATP2A2 ATP2C1 ATP6V0A2 ATP6V0A4 ATP6V1B1 ATP6V1B2 ATP7A ATP7B ATP8A2 ATP8B1 ATR ATRIP ATRX ATXN1 ATXN10 ATXN2 ATXN7 ATXN8 ATXN8OS AUH AURKC AVPR2 AXIN1 B2M B3GALNT2 B3GALT6 B3GLCT B4GALNT1 B4GALT1 B4GALT7 B4GAT1 B9D1 B9D2 BAG3 BAG5 BANF1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCHE BCL10 BCL2 BCL6 BCL7B BCOR BCR BCS1L BDNF BEAN1 BEST1 BFIS1 BGN BHLHA9 BICC1 BICD2 BIN1 BIRC3 BLK BLM BLNK BMP1 BMP15 BMP2 BMP4 BMPR1B BMPR2 BMS1 BNC1 BNC2 BPGM BPNT2 BRAF BRCA1 BRCA2 BRD4 BRIP1 BRSK2 BSCL2 BSND BTD BTK BTNL2 BTRC BUB1 BUB1B BUB3 BUD23 C1QA C1QB C1QC C1QTNF5 C1R C1S C2 C2CD3 C4A C5 C8A C8B CA2 CA4 CA5A CA8 CABP4 CACNA1A CACNA1C CACNA1F CACNA1I CACNA1S CACNA2D1 CACNA2D4 CACNB2 CACNB4 CACNG2 CAD CALM1 CALM2 CALM3 CALR CAMK2A CAMK2B CANT1 CAP2 CAPN3 CARD11 CARD14 CARS1 CASK CASP10 CASP8 CASQ1 CASQ2 CASR CASZ1 CAT CATSPER2 CAV1 CAV3 CAVIN1 CBFB CBL CBLIF CBS CBX2 CBY1 CC2D2A CCAL1 CCBE1 CCDC103 CCDC141 CCDC22 CCDC28B CCDC39 CCDC40 CCDC6 CCDC65 CCDC8 CCDC88C CCM2 CCN2 CCN6 CCND1 CCND2 CCNF CCNO CCNQ CCR1 CCR6 CD109 CD19 CD247 CD28 CD2AP CD40 CD40LG CD46 CD79A CD79B CD81 CD96 CDAN1 CDC45 CDC6 CDC73 CDCA7 CDH1 CDH11 CDH15 CDH23 CDH3 CDHR1 CDIN1 CDK4 CDK5RAP2 CDK6 CDKL5 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CDT1 CEACAM3 CEACAM6 CEBPE CEL CENPE CENPJ CEP104 CEP120 CEP126 CEP135 CEP152 CEP164 CEP19 CEP290 CEP41 CEP57 CEP63 CEP78 CERKL CERS3 CFAP221 CFAP298 CFAP300 CFAP410 CFAP418 CFAP47 CFAP52 CFAP53 CFH CFHR1 CFI CFL2 CFP CFTR CHAMP1 CHCHD10 CHD2 CHD7 CHEK2 CHKB CHM CHMP2B CHN1 CHRDL1 CHRM3 CHRNA1 CHRNA2 CHRNA4 CHRNA7 CHRNB1 CHRNB2 CHRND CHRNE CHRNG CHST14 CHST3 CHST6 CHSY1 CIB1 CIB2 CIC CIITA CILK1 CISD2 CIT CITED2 CKAP2L CLCA4 CLCF1 CLCN1 CLCN2 CLCN7 CLCNKA CLCNKB CLDN1 CLDN16 CLDN19 CLEC7A CLIP2 CLN3 CLN5 CLN6 CLN8 CLPB CLPP CLRN1 CLTC CLTRN CNBP CNGA1 CNGA2 CNGA3 CNGB1 CNGB3 CNNM4 CNPY3 COA3 COASY COD2 COG1 COG4 COG5 COG6 COG7 COG8 COL10A1 COL11A1 COL11A2 COL12A1 COL14A1 COL18A1 COL1A1 COL1A2 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COL8A2 COL9A1 COL9A3 COLEC10 COLEC11 COMP COMT COPB2 COQ6 COQ8A COQ8B CORD1 COX10 COX14 COX20 COX4I1 COX5A COX6A2 COX6B1 COX7B COX8A CP CPA1 CPLANE1 CPLX1 CPOX CPS1 CPT1A CR2 CRB1 CRB2 CREB3L1 CREBBP CRH CRLF1 CRPPA CRTAP CRX CRYAA CRYAB CRYBA2 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGB CRYGC CRYGD CSF1R CSF2RA CSF2RB CSF3R CSNK1D CSNK2B CSPP1 CSRP3 CSTA CSTB CTBP1 CTC1 CTH CTLA4 CTNNA1 CTNNB1 CTNND1 CTNND2 CTRC CTRCT35 CTSA CTSB CTSC CTSD CTSH CTSK CUBN CUL4B CUL7 CUX1 CUX2 CXCR4 CYB5A CYB5R3 CYBA CYBB CYBC1 CYC1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1B1 CYP27A1 CYP4F22 CYP4V2 CYP7B1 CYSLTR2 D2HGDH DAAM2 DAB1 DACT1 DAG1 DAO DARS2 DBA2 DBH DCAF17 DCAF8 DCC DCHS1 DCLRE1C DCTN1 DCTN4 DCX DCXR DDB2 DDC DDIT3 DDOST DDR2 DDRGK1 DDX11 DDX3X DDX59 DEAF1 DEPDC5 DES DFNA24 DFNA53 DFNB47 DFNB51 DFNB55 DGUOK DHCR24 DHCR7 DHDDS DHFR DHH DHODH DHX37 DHX38 DIAPH1 DICER1 DIRC3 DIS3L2 DKC1 DKK1 DLD DLK1 DLL1 DLL3 DLL4 DLST DLX3 DLX5 DLX6 DMD DMRT1 DMXL2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH10 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAJC19 DNAJC21 DNAJC30 DNAJC5 DNAL1 DNAL4 DNASE1L3 DNHD1 DNM1 DNM1L DNM2 DNMBP DNMT1 DNMT3A DNMT3B DOCK2 DOCK6 DOCK8 DOK7 DOLK DPAGT1 DPF2 DPM1 DPM2 DPM3 DPP6 DPP9 DPY19L2 DPYD DPYS DRAM2 DRC1 DRD2 DSE DSG1 DSG2 DSG4 DSP DSPP DSTYK DTNA DUSP6 DUX4 DUX4L1 DYM DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYSF DZIP1L EARS2 EBP ECE1 ECHS1 ECM1 EDA EDA2R EDAR EDARADD EDN1 EDN3 EDNRA EDNRB EED EEF1A2 EEF2 EFEMP1 EFEMP2 EFHC1 EFL1 EFNB1 EFTUD2 EGF EGFR EGR2 EHHADH EIF1AX EIF2AK2 EIF2AK3 EIF2AK4 EIF2S3 EIF4A3 EIF4H ELAC2 ELANE ELMO2 ELN ELOVL4 ELP1 EMG1 EML1 EMP2 ENAM ENG ENO3 ENPP1 EOGT EPAS1 EPB41 EPB41L1 EPB42 EPCAM EPG5 EPHA2 EPHA4 EPHB2 EPHB4 EPM2A EPOR EPS15L1 EPS8L3 ERAL1 ERAP1 ERBB2 ERBB3 ERBB4 ERC1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERG ERGIC1 ERLIN2 ERMARD ESCO2 ESPN ETHE1 ETV1 ETV4 ETV6 EVC EVC2 EWSR1 EXOC6B EXOSC3 EXOSC8 EXOSC9 EXT1 EXT2 EXT3 EYA1 EYS EZH2 F10 F11 F12 F13A1 F13B F2 F5 F7 FA2H FAH FAM111A FAM111B FAM13A FAM149B1 FAM161A FAM20A FAM20C FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FAS FASLG FAT4 FBLN5 FBN1 FBN2 FBP1 FBXL4 FBXO7 FCGR2C FDPS FECH FERMT1 FEZF1 FGA FGB FGD1 FGF10 FGF14 FGF16 FGF17 FGF23 FGF3 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGG FH FHIT FHL1 FHL2 FIG4 FIP1L1 FKBP10 FKBP6 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FLRT3 FLT3 FLT4 FLVCR1 FMO3 FMR1 FN1 FOLR1 FOS FOXA2 FOXC1 FOXC2 FOXE1 FOXE3 FOXF1 FOXI1 FOXJ1 FOXN1 FOXO1 FOXP1 FOXP2 FOXP3 FOXRED1 FRAS1 FREM1 FREM2 FRG1 FRRS1L FSCN2 FSHB FSHR FTCD FTH1 FTL FUCA1 FUS FUZ FXN FXYD2 FYCO1 FZD2 FZD4 FZD5 G6PC1 G6PD GABBR2 GABRA1 GABRA3 GABRB3 GABRD GABRG2 GALK1 GALNS GALNT3 GALT GAMT GAN GANAB GAPVD1 GAS2L2 GAS8 GAS8-AS1 GATA1 GATA2 GATA3 GATA4 GATA5 GATA6 GATAD1 GATAD2B GATM GBE1 GCDH GCGR GCH1 GCK GCLC GCNT2 GDAP1 GDF1 GDF2 GDF3 GDF5 GDF6 GDNF GFER GFI1 GFI1B GFND1 GGT1 GH1 GHR GHRHR GINGF2 GINGF3 GINGF4 GIPC1 GJA1 GJA5 GJA8 GJB2 GJB3 GJB6 GJC2 GLA GLB1 GLC3B GLE1 GLI1 GLI2 GLI3 GLRA1 GLRB GLT8D1 GLUD1 GLUL GLYCTK GMNN GMPPA GMPPB GNA11 GNA14 GNAI3 GNAL GNAO1 GNAQ GNAS GNAT1 GNAT2 GNB3 GNE GNMT GNPTAB GNRH1 GNRHR GNS GOLGA5 GOPC GORAB GOSR2 GP1BA GP1BB GP6 GP9 GPC3 GPC4 GPC6 GPD1L GPHN GPKOW GPR101 GPR143 GPR161 GPR179 GPR35 GPR68 GPSM2 GPX4 GRHL3 GRHPR GRIN1 GRIN2A GRIN2B GRIP1 GRK1 GRM6 GRM7 GRN GSN GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1A GUCA1B GUCY2D GUF1 GUSB GYPC GYS1 GYS2 H19 H19-ICR H6PD HABP2 HACD1 HACE1 HADH HADHA HADHB HAL HAMP HAND2 HARS1 HARS2 HAVCR2 HAX1 HBA1 HBA2 HBB HCCS HCN4 HCRT HDAC4 HDAC8 HELLPAR HELLS HEPACAM HES7 HESX1 HEXB HEY2 HFE HGD HGSNAT HHT3 HHT4 HIBCH HIC1 HINT1 HIRA HIVEP2 HJV HK1 HLA-A HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 HLCS HMBS HMGA2 HMGCL HMGCS2 HMOX1 HNF1A HNF1B HNF4A HNRNPA1 HNRNPA2B1 HNRNPU HOGA1 HOXA1 HOXA13 HOXB13 HOXD13 HPCA HPD HPGD HPRT1 HPSE2 HR HRAS HS6ST1 HSD11B1 HSD11B2 HSD17B3 HSD17B4 HSD3B2 HSD3B7 HSF4 HSPB1 HSPBAP1 HSPD1 HSPG2 HTRA1 HTT HUWE1 HYDIN HYLS1 HYMAI ICOS IDH1 IDH2 IDH3A IDH3B IDUA IFIH1 IFITM5 IFNG IFNGR1 IFRD1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT74 IFT80 IFT88 IGBP1 IGF1 IGF1R IGF2 IGFBP7 IGH IGHG1 IGHM IGHMBP2 IGHV3-21 IGLL1 IHH IKBKG IKZF1 IKZF3 IL10 IL10RA IL10RB IL12A IL12A-AS1 IL12B IL12RB1 IL17F IL17RA IL17RC IL17RD IL1RN IL23R IL2RA IL2RB IL2RG IL36RN IL6 IL7 IL7R IMPDH1 IMPDH2 IMPG1 IMPG2 INF2 INO80 INPP5E INPP5K INPPL1 INS INSR INVS IQCB1 IQSEC2 IRAK4 IRF2BP2 IRF4 IRF5 IRF6 ISL1 ITCH ITGA2 ITGA2B ITGA7 ITGB2 ITGB3 ITGB4 ITGB6 ITM2B ITPR1 ITSN1 IVD JAG1 JAK2 JAM2 JAZF1 JMJD1C JRK JUP KAT6B KATNIP KBTBD13 KCNA1 KCNA5 KCNAB2 KCNB1 KCNC3 KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH1 KCNH2 KCNJ10 KCNJ11 KCNJ13 KCNJ18 KCNJ2 KCNJ5 KCNJ8 KCNK9 KCNN3 KCNN4 KCNQ1 KCNQ1OT1 KCNQ2 KCNQ3 KCNQ5 KCNT1 KCNV2 KCTD1 KCTD17 KCTD7 KDF1 KDM5B KDM6A KDR KIAA0319L KIAA0586 KIAA0753 KIAA1549 KIF11 KIF14 KIF1A KIF1B KIF21A KIF22 KIF23 KIF5A KIF7 KIFBP KIRREL3 KIT KITLG KIZ KL KLF11 KLHL10 KLHL40 KLHL41 KLHL7 KLK4 KLKB1 KLLN KLRC4 KMT2A KMT2D KNG1 KNL1 KRAS KRIT1 KRT1 KRT10 KRT12 KRT13 KRT14 KRT16 KRT17 KRT2 KRT25 KRT3 KRT4 KRT5 KRT6A KRT6B KRT71 KRT74 KRT81 KRT83 KRT86 KRT9 KYNU L1CAM L2HGDH LACC1 LAGE3 LAMA2 LAMA4 LAMB2 LAMB3 LAMP2 LARGE1 LARS1 LARS2 LAS1L LBR LCA5 LCAT LDB3 LDHA LDHB LDLR LDLRAP1 LEMD2 LEMD3 LEP LETM1 LFNG LGI1 LHB LHCGR LHX1 LHX3 LHX4 LIAS LIFR LIG3 LIG4 LIM2 LIMK1 LIN28B LIPA LIPC LIPH LIPN LMBR1 LMF1 LMNA LMNB1 LMNB2 LMO1 LMOD1 LMOD3 LMX1B LONP1 LOX LPAR4 LPAR6 LPIN2 LPL LRAT LRBA LRIG2 LRIT3 LRP1 LRP2 LRP4 LRP5 LRPPRC LRRC56 LRRC8A LRSAM1 LSS LTBP1 LTBP2 LTBP3 LTBP4 LUZP1 LYRM7 LYST LZTFL1 LZTR1 MACROH2A1 MAD2L2 MAF MAFB MAGEL2 MAGI2 MAGT1 MAK MALT1 MAN1B1 MANBA MAOA MAP1B MAP2K1 MAP2K2 MAP3K1 MAP3K20 MAP3K6 MAP3K7 MAPK10 MAPRE2 MAPT MASP1 MAT1A MAT2A MATN3 MATR3 MAX MBD5 MBTPS2 MC1R MC2R MCCC1 MCCC2 MCIDAS MCOLN1 MCPH1 MDH2 MDM2 MECOM MECP2 MECR MED12 MED12L MED17 MEF2C MEFV MEG3 MEGF10 MEGF8 MEIOB MEN1 MEOX1 MERTK MESD MESP2 MET METTL27 METTL5 MFAP5 MFN2 MFSD2A MFSD8 MGAT2 MGMT MGP MIB1 MIB2 MICOS13 MICU1 MID1 MIF MINPP1 MIP MITF MKKS MKS1 MLC1 MLH1 MLH3 MLPH MLX MLXIPL MLYCD MMEL1 MMP1 MMP13 MMP14 MMP2 MMP20 MMP21 MMP23B MMP9 MMVP1 MNRI MNX1 MOCOS MOG MOGS MPDU1 MPI MPL MPLKIP MPO MPV17 MPZ MRAP MRAS MRPL44 MRPS22 MS4A1 MSH2 MSH6 MSMB MSR1 MST1 MSTN MSX1 MSX2 MTAP MTHFR MTM1 MTMR14 MTOR MTPAP MTR MTTP MTX2 MUC1 MUC5B MUCL3 MUSK MUTYH MVD MVK MYBPC1 MYBPC3 MYC MYCN MYD88 MYF6 MYH11 MYH2 MYH3 MYH6 MYH7 MYH7B MYH8 MYH9 MYL2 MYL4 MYLK MYMK MYO1E MYO1H MYO5A MYO5B MYO6 MYO7A MYOC MYOD1 MYORG MYOT MYPN MYT1L NAA10 NABP1 NADK2 NAGA NAGLU NAGS NAIP NALCN NANOS1 NANS NBAS NBEA NBEAL2 NBN NCAPD3 NCF1 NCF2 NCF4 NCOA4 NDE1 NDNF NDP NDUFA1 NDUFA11 NDUFA13 NDUFA2 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECTIN1 NEDD4L NEFH NEK1 NEK10 NEK2 NEK9 NELFA NEPRO NEU1 NEUROD1 NEUROD2 NEXMIF NEXN NF1 NF2 NFIX NFKB1 NFKB2 NFKBIA NGF NGLY1 NHLRC1 NHP2 NHS NIPA1 NIPA2 NIPAL4 NIPBL NKX2-1 NKX2-5 NKX2-6 NLRP3 NME7 NME8 NMNAT1 NNT NOD2 NODAL NOG NOP10 NOS1 NOS1AP NOTCH1 NOTCH2 NOTCH2NLC NOTCH3 NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NPM1 NPPA NPR2 NPRL2 NPRL3 NR0B1 NR1H4 NR2E3 NR3C1 NR3C2 NR5A1 NRAS NRL NRTN NSD1 NSD2 NSDHL NSUN2 NT5E NTN1 NTNG1 NTRK1 NTRK2 NTRK3 NUBPL NUMA1 NUP107 NUP133 NUP155 NUP160 NUP205 NUP37 NUP85 NUP88 NUP93 NUTM2A NUTM2B NYX OAT OBSL1 OCA2 OCLN OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODAPH OFD1 OGDH OGG1 OPA1 OPA3 OPA6 OPLAH OPN1LW OPN1MW OPTN ORAI1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTC OTULIN OTX2 OXCT1 P2RX7 P2RY11 P2RY12 P3H1 P4HA2 P4HB PABPN1 PACS1 PADI3 PAFAH1B1 PAH PALB2 PALLD PARK3 PARK7 PARN PAX1 PAX2 PAX3 PAX4 PAX6 PAX7 PAX8 PCARE PCBD1 PCCA PCCB PCDH15 PCDH19 PCK1 PCK2 PCLO PCM1 PCNT PCSK9 PCYT1A PDA1 PDCD10 PDE11A PDE2A PDE3A PDE4D PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDE8B PDGFB PDGFRA PDGFRB PDGFRL PDHA1 PDP1 PDPN PDX1 PDYN PDZD7 PEPD PER2 PER3 PERP PET117 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFHB2 PFKM PFN1 PGAM2 PGK1 PGM1 PGM3 PGRMC1 PHACTR1 PHC1 PHEX PHF21A PHF6 PHF8 PHKA1 PHKG1 PHOX2A PHOX2B PHYH PI4KA PIBF1 PICK1 PIEZO1 PIEZO2 PIGA PIGG PIGL PIGM PIGN PIGP PIGQ PIGW PIK3CA PIK3CD PIK3R1 PIK3R2 PIK3R5 PITPNM3 PITX1 PITX2 PITX3 PKD1 PKD1L1 PKD2 PKHD1 PKLR PKP1 PKP2 PLA2G6 PLAGL1 PLAU PLCB1 PLCB4 PLCD1 PLCE1 PLEC PLEKHG4 PLEKHM1 PLEKHM2 PLG PLK4 PLN PLOD2 PLP1 PLPBP PLXND1 PML PMM2 PMP22 PMPCA PMS1 PMS2 PMVK PNKD PNKP PNLDC1 PNP PNPLA1 PNPLA2 PNPLA6 PNPO POC1B POFUT1 POGLUT1 POLD1 POLE POLG POLH POLR1A POLR1B POLR1C POLR1D POLR3A POLR3B POLR3H POMC POMGNT1 POMGNT2 POMK POMT1 POMT2 PON1 PON2 PON3 POP1 POR PORCN POROK4 POT1 POU1F1 POU2AF1 POU3F4 POU6F2 PPARG PPARGC1A PPCS PPIB PPOX PPP1CB PPP2R2B PPP3CA PPT1 PRCD PRDM16 PRDM5 PRF1 PRG4 PRICKLE1 PRICKLE2 PRKACA PRKAG2 PRKAR1A PRKCD PRKCG PRKCSH PRKCZ PRKG1 PRKN PRKRA PRNP PROC PRODH PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH PRPH2 PRPS1 PRRT2 PRRX1 PRSS1 PRSS2 PRTN3 PRX PSAT1 PSEN1 PSEN2 PSENEN PSMB8 PSMC3IP PSTPIP1 PTCH1 PTCH2 PTDSS1 PTEN PTF1A PTH1R PTHLH PTPN11 PTPN2 PTPN22 PTPN3 PTPRF PTPRO PTS PUF60 PUS1 PYCR1 PYCR2 PYGL PYGM QDPR RAB11A RAB18 RAB23 RAB27A RAB28 RAB33B RAB39B RAB3GAP1 RAB3GAP2 RAB7A RABL3 RAD21 RAD51 RAD51C RAD51D RAF1 RAG1 RAG2 RAI1 RANBP2 RANGRF RAPSN RARA RARB RARS2 RASA1 RASA2 RASGRP1 RAX RAX2 RB1 RBBP8 RBM10 RBM20 RBM8A RBP3 RBP4 RBPJ RCD1 RD3 RDH12 RECQL4 REEP1 REEP6 RELA RELN RELT REN RERE REST RET RETREG1 REV3L RFC2 RFT1 RFWD3 RFX5 RFX6 RFXANK RFXAP RGR RGS9 RGS9BP RHAG RHBDF2 RHCE RHD RHO RIMS1 RIPK4 RIPPLY2 RIT1 RLBP1 RMD1 RMRP RNASEH2A RNASEH2B RNASEH2C RNASEL RNASET2 RNF113A RNF139 RNF213 RNF216 RNPC3 RNU4ATAC ROBO1 ROBO3 ROGDI ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL11 RPL15 RPL18 RPL21 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPN1 RPS10 RPS14 RPS15 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RRM2B RS1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RTEL1 RTL1 RTN2 RUNX1 RUNX2 RXYLT1 RYR1 RYR2 SAA1 SACS SAG SALL1 SALL2 SALL4 SAMD9 SAMD9L SAMHD1 SAR1B SARDH SASS6 SAT1 SATB2 SBDS SBF2 SC5D SCAPER SCARB2 SCARF2 SCN10A SCN11A SCN1A SCN1B SCN2A SCN2B SCN3B SCN4A SCN4B SCN5A SCN8A SCN9A SCNN1A SCNN1B SCNN1G SCO2 SCP2 SDCCAG8 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SDR9C7 SEC23B SEC24C SEC24D SEC63 SELENON SEM1 SEMA3A SEMA3C SEMA3D SEMA3E SEMA4A SEMA4D SEMA5A SEPSECS SEPTIN14 SEPTIN9 SERAC1 SERPINA1 SERPINA6 SERPINC1 SERPINE1 SERPINF1 SERPINF2 SERPINH1 SET SETBP1 SETD1B SETD2 SETX SF3B1 SF3B4 SFRP4 SFTPA1 SFTPA2 SFTPC SGCA SGCB SGCD SGCE SGCG SGO1 SGSH SH2B1 SH2B3 SH3BP2 SH3KBP1 SH3PXD2B SHANK3 SHH SHOC2 SHOX SHROOM4 SI SIGMAR1 SIK1 SIL1 SIN3A SIPA1L3 SIX1 SIX5 SIX6 SKI SLC11A1 SLC11A2 SLC12A3 SLC12A5 SLC12A6 SLC13A5 SLC16A1 SLC16A2 SLC17A9 SLC18A2 SLC18A3 SLC19A2 SLC19A3 SLC1A1 SLC1A3 SLC1A4 SLC20A2 SLC22A12 SLC22A18 SLC22A5 SLC24A1 SLC24A4 SLC25A11 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A24 SLC25A4 SLC25A46 SLC26A2 SLC26A3 SLC26A4 SLC26A9 SLC27A4 SLC29A3 SLC2A1 SLC2A10 SLC2A2 SLC2A3 SLC2A9 SLC30A10 SLC34A1 SLC34A2 SLC35A1 SLC35A2 SLC35C1 SLC35D1 SLC36A2 SLC37A4 SLC39A4 SLC40A1 SLC46A1 SLC49A4 SLC4A1 SLC4A11 SLC5A1 SLC5A2 SLC6A1 SLC6A14 SLC6A18 SLC6A19 SLC6A2 SLC6A20 SLC6A3 SLC6A5 SLC6A8 SLC7A14 SLC7A7 SLC9A3 SLC9A6 SLCO1B1 SLCO1B3 SLCO2A1 SLITRK6 SLMAP SLURP1 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCAD1 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMCHD1 SMN1 SMN2 SMO SMOC1 SMPD1 SMS SNAI2 SNAP29 SNCA SNORD118 SNRNP200 SNRPB SNRPE SNTA1 SOD1 SOHLH1 SON SORL1 SOS1 SOS2 SOST SOX10 SOX11 SOX18 SOX2 SOX3 SOX4 SOX9 SP110 SP7 SPAG1 SPARC SPART SPAST SPATA16 SPATA7 SPECC1L SPEF2 SPEG SPEN SPG11 SPG7 SPIB SPIDR SPINK1 SPINK5 SPR SPRED1 SPRED2 SPRY4 SPTA1 SPTAN1 SPTB SPTBN2 SPTLC1 SPTLC2 SQSTM1 SRCAP SRD5A2 SRD5A3 SREBF1 SRGAP1 SRP54 SRPX2 SRSF2 SRY SS18 SSR4 SSUH2 SSX1 SSX2 ST14 ST3GAL3 ST3GAL5 STAC3 STAR STAT1 STAT3 STAT4 STAT5B STIL STIM1 STING1 STK11 STK36 STN1 STRA6 STRADA STRC STS STX11 STX16 STX1A STX3 STXBP1 STXBP2 SUCLA2 SUCLG1 SUFU SUGCT SULT2B1 SUMF1 SUOX SUZ12 SYCE1 SYCP3 SYNE1 SYNGAP1 SZT2 TACC1 TACC3 TACR3 TACSTD2 TAF1 TAF13 TAF15 TAF1A TAF4B TAFAZZIN TALDO1 TANGO2 TAOK1 TAP1 TAP2 TAPBP TARDBP TARS1 TAT TBC1D20 TBC1D24 TBC1D8B TBCE TBK1 TBL1XR1 TBL2 TBP TBR1 TBX1 TBX15 TBX19 TBX20 TBX22 TBX3 TBX4 TBX5 TBXAS1 TBXT TCAP TCF3 TCF4 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TDO2 TDP1 TDRD9 TECPR2 TECRL TEK TENM1 TENM3 TENT5A TERC TERF2IP TERT TET2 TEX11 TEX14 TEX15 TF TFAP2A TFAP2B TFE3 TFG TFR2 TGDS TGFB1 TGFB2 TGFB3 TGFBI TGFBR1 TGFBR2 TGM1 TGM3 TGM5 TH THAP1 THPO TIA1 TICAM1 TIMM8A TIMMDC1 TIMP3 TINF2 TJP2 TK2 TKFC TLCD3B TLL1 TLR3 TLR4 TMC6 TMC8 TMCO1 TMEM106B TMEM107 TMEM126B TMEM127 TMEM138 TMEM165 TMEM216 TMEM231 TMEM237 TMEM240 TMEM270 TMEM38B TMEM67 TMPO TMPRSS6 TMTC3 TNFRSF11A TNFRSF11B TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFSF11 TNFSF12 TNFSF15 TNFSF4 TNNC1 TNNI2 TNNI3 TNNT1 TNNT2 TNNT3 TNPO3 TNXB TOM1 TOMM40 TONSL TOP2A TOPORS TOR1A TP53 TP53RK TP63 TP73 TPI1 TPK1 TPM1 TPM2 TPM3 TPM4 TPP1 TPR TPRKB TRAF3 TRAF3IP1 TRAF3IP2 TRAF6 TRAF7 TRAIP TRANK1 TRAPPC11 TRAPPC14 TRAPPC2 TRDN TREH TREM2 TREX1 TRIM24 TRIM27 TRIM28 TRIM32 TRIM33 TRIM37 TRIM44 TRIM8 TRIP11 TRIP13 TRIP4 TRMU TRPA1 TRPC6 TRPM1 TRPM3 TRPM4 TRPM6 TRPM7 TRPS1 TRPV3 TRPV4 TRPV6 TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSHB TSHR TSPAN12 TSPOAP1 TSPYL1 TSR2 TTBK2 TTC12 TTC19 TTC21B TTC7A TTC8 TTLL5 TTN TTPA TUB TUBB TUBB2B TUBB3 TUBB4A TUBG1 TUKLS TULP1 TWIST1 TWIST2 TWNK TXNDC15 TXNL4A TXNRD2 TYK2 TYMP TYR TYROBP TYRP1 UBA1 UBAC2 UBAP1 UBE2T UBE3B UBE4B UBIAD1 UBQLN2 UBR1 UBTF UFD1 UFM1 UFSP2 UGT1A1 UMOD UMPS UNC119 UNC13A UNC13D UNC93B1 UNG UPF3B UQCC2 UQCC3 UQCRB UQCRC2 UQCRFS1 UQCRQ UROC1 UROD UROS USB1 USF3 USH1C USH1E USH1G USH1H USH1K USH2A USP45 USP8 USP9X UVSSA VAC14 VANGL1 VAPB VCAN VCL VCP VHL VIPAS39 VLDLR VMA21 VPS13A VPS13B VPS13D VPS33B VPS37D VPS41 VPS4B VRK1 VSX2 WAS WASHC5 WDPCP WDR11 WDR19 WDR35 WDR4 WDR45 WDR62 WDR72 WDR73 WDR81 WFS1 WHRN WIPF1 WNK1 WNT1 WNT10A WNT10B WNT3 WNT3A WNT4 WNT7A WRAP53 WRN WT1 XDH XIAP XK XPA XPC XPR1 XRCC2 XYLT1 YAP1 YARS2 YWHAE YY1 ZAP70 ZBTB16 ZBTB20 ZBTB24 ZC4H2 ZDHHC9 ZEB1 ZFP57 ZFPM2 ZFTA ZFYVE26 ZMPSTE24 ZMYND10 ZMYND11 ZMYND15 ZNF365 ZNF408 ZNF423 ZNF469 ZNF513 ZNF592 ZNHIT3 ZSWIM6 ZSWIM7

Associated Diseases: -

Ensembl Transcript: - Refseq: - Uniprot: -

RARe-SOURCE™ provides access to known variants in genes associated with rare diseases. These variants were downloaded from many public sources including gnomAD and ClinVar, and annotated using OpenCravat. Additional annotations such as AlphaMissense were also included. In addition, the RARe-SOURCE™ has manually created variants from literature for one rare disease, X-linked creatine transporter deficiency and is in the process of curating variants for Farber’s disease.

Variant Annotations – A tabular listing of variants obtained from multiple databases along with annotations for these variants. Interactive visualizations to select and filter variants by their type and genic location, minor allele frequency or pathogenicity predictions.
Manually Curated Variants – Clinical and functional details of manually curated variants obtained from literature. Currently available for SLC6A8 (X-linked creatine transporter deficiency) with Interactive visualizations to select and filter variants by gene or protein location, pathogenicity and creatine uptake measurements.
3D Protein Structure – An integrated 2D-3D visualization of protein features from UniProt on the protein structure.