SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes:
AADACL4, AARS2, AATK, ABCA10, ABCA3, ABCA7, ABCB8, ABCC1, ABCC8, ABCG4, ABHD15, ABHD8, AC024592.12, AC025278.1, AC079354.1, AC104809.3, ACER1, ACER2, ACKR2, ACO1, ACOT11, ACP1, ACSM2A, ACTC1, ACTN1, ACTR5, ACVRL1, ADAM15, ADAMTS12, ADAMTS16, ADAMTSL1, ADAMTSL3, ADCY2, ADCYAP1, ADIG, ADIPOR1, AGFG2, AGPS, AGRN, AGXT, AHCY, AHNAK, AHRR, AL031666.2, AL033381.1, AL049840.1, AL359878.1, ALDH16A1, ALDH18A1, ALDH1B1, ALG3, ALOX15, ALOX15B, ALOXE3, ALPL, AMACR, AMER3, AMH, ANAPC1, ANGPTL4, ANKDD1A, ANKFY1, ANKH, ANKRD12, ANKRD17, ANKRD18A, ANKRD24, ANKRD30B, ANKRD33B, ANKRD62, ANKRD9, ANKS4B, ANO9, ANXA2R, AOX1, AP001631.10, AP1S1, AP2A1, AP3D1, AP4E1, APBA3, APC2, APEH, APIP, APPBP2, APPL1, ARC, ARFGAP3, ARFIP2, ARFRP1, ARHGAP11B, ARHGAP28, ARHGEF11, ARHGEF18, ARHGEF39, ARID3A, ARID3C, ARID5A, ARPC1B, ASB11, ASGR1, ASIC1, ASIC3, ASPDH, ASPM, ATAD3A, ATF7IP2, ATM, ATMIN, ATP11A, ATP1B2, ATP2A1, ATP5J2-PTCD1, ATP6V1B1, ATP6V1G2-DDX39B, ATP8B3, ATRN, ATXN2L, AZU1, B4GALNT4, BAI1, BASP1, BAZ1B, BECN1, BGLAP, BIRC8, BNIPL, BOD1L1, BRD1, BRD7, BRD9, BRSK2, BSN, BST1, BTN1A1, BTN2A2, BTN3A1, BTN3A2, C11orf16, C11orf24, C11orf35, C12orf49, C12orf56, C15orf59, C16orf3, C16orf71, C16orf98, C17orf64, C18orf56, C19orf24, C19orf77, C1GALT1C1, C1orf167, C1orf213, C1orf85, C2, C20orf96, C2CD2L, C2CD4D, C2orf44, C2orf57, C3, C3orf33, C4A, C4orf19, C4orf21, C5orf38, C5orf49, C6, C6orf195, C6orf222, C7, C7orf72, C9, C9orf131, C9orf24, C9orf66, C9orf72, CA11, CA9, CACNA1F, CACNA1H, CACNG6, CACTIN, CADPS, CADPS2, CAGE1, CAMKV, CAMSAP3, CAMTA1, CAP2, CAPN13, CAPN3, CAPSL, CARD10, CASKIN1, CBLN2, CCDC107, CCDC136, CCDC14, CCDC154, CCDC176, CCDC182, CCDC19, CCDC33, CCDC37, CCDC73, CCDC78, CCDC88A, CCDC88B, CCDC88C, CCDC96, CCHCR1, CCL24, CCRL2, CCS, CCT3, CCT5, CD27, CD37, CD70, CDC42EP2, CDCP2, CDH12, CDH16, CDH7, CDHR5, CDK12, CDKAL1, CDYL, CECR1, CECR6, CEL, CELF5, CELSR3, CEP192, CERCAM, CERS1, CES2, CETN1, CFHR5, CHAD, CHD3, CHID1, CHRD, CHRM1, CHRM5, CHRNA3, CHRNB2, CHST10, CHTOP, CILP2, CIRBP, CISH, CIT, CKB, CLCN7, CLDN16, CLMN, CLOCK, CLPB, CLSTN3, CLTCL1, CMYA5, CNGB1, CNN2, CNTLN, CNTN4, CNTNAP3, CNTROB, COCH, COL11A2, COL12A1, COL20A1, COL4A3BP, COL6A5, COLEC12, COLGALT1, COMP, CPAMD8, CPZ, CRABP2, CRELD2, CRIM1, CRYAA, CSMD1, CSRP2BP, CST6, CTNNAL1, CTR9, CUBN, CXCL16, CYBA, CYP21A2, CYP2C18, CYP4F12, CYP4F22, CYTH1, CYTH4, DAB2, DAGLA, DAXX, DCAF12, DCAF5, DCAF6, DCDC2, DEAF1, DEFA1, DENND1C, DENND4C, DEPDC5, DGKE, DHTKD1, DHX16, DHX34, DHX8, DIAPH1, DLGAP2, DMRT1, DMRT2, DMRT3, DMRTA1, DMRTC2, DNA2, DNAH1, DNAH11, DNAH3, DNAH5, DNAH8, DNAH9, DNAJA1, DNHD1, DOCK8, DOT1L, DPCR1, DPEP1, DPY19L3, DRAXIN, DROSHA, DSCAML1, DSP, DTNBP1, DUSP3, DYNC1H1, EARS2, EBI3, EED, EEF1A2, EEF2, EEFSEC, EFCAB11, EFCAB12, EFCAB4A, EGFLAM, EGR4, EIF3B, EIF4G1, ELOVL5, EMC4, EMILIN2, EMR1, ENDOV, ENTPD3, EP400, EPN3, EPS15L1, EQTN, ERCC6, ERF, ERMAP, ETV4, ETV7, EXD1, EXOC3L4, EXOSC2, EXOSC7, EYA2, EYS, F13A1, F5, FAIM2, FAM110C, FAM115C, FAM134B, FAM154A, FAM183A, FAM187A, FAM193B, FAM200B, FAM205A, FAM208A, FAM20C, FAM214B, FAM215A, FAM230A, FAM24A, FAM65B, FAM71F2, FAM83H, FASN, FBN1, FBN3, FBXO10, FBXO18, FBXO24, FBXO42, FBXW10, FBXW12, FCGBP, FCGR3B, FCHSD2, FCRL1, FEM1A, FGD2, FGFR3, FGR, FIS1, FKBP4, FKBPL, FLII, FLJ00273, FLNA, FLNC, FLT3LG, FNDC5, FOCAD, FOXD4, FOXK1, FOXO1, FOXQ1, FREM1, FRMPD4, FSIP2, FUK, FUT3, FUT5, FUT6, FUZ, FXR2, FYB, GABARAPL1, GAL3ST4, GALC, GALNT15, GARS, GCNT2, GFOD1, GFY, GGA2, GGT5, GGTLC3, GHR, GIPC3, GJA9, GLB1L3, GLDC, GLIS3, GLYR1, GMIP, GNA15, GNAO1, GNMT, GOLGA4, GOLGA6L19, GORASP1, GPAT2, GPLD1, GPR107, GPR108, GPR115, GPR116, GPR125, GPR161, GPR179, GPR56, GPR89C, GPR98, GPX4, GRAMD1A, GRHL3, GRIN2D, GRIN3B, GRK1, GSAP, GSTP1, GTF3C5, GUCY2C, GUF1, GZMM, HAPLN2, HAUS5, HAUS6, HBD, HDGFL1, HDGFRP2, HEATR1, HEG1, HENMT1, HERC1, HHIPL1, HIF3A, HIP1R, HIST1H1T, HIST1H2AB, HIST1H2AD, HIST1H2BA, HIST1H4B, HIST1H4H, HIVEP1, HMCN1, HMHA1, HNRNPLL, HNRNPUL1, HP, HPCA, HPN, HSCB, HSD17B8, HSP90AB1, HUS1B, HUWE1, IER3, IFITM1, IFITM2, IFNL3, IFT74, IGKV3D-15, IGSF10, IKZF4, IL17REL, IL1B, IL2RA, IL7R, ILF2, ILK, INF2, INPP4A, INSR, INSRR, IPP, IQCC, IQGAP1, IRAK2, IRF2BP1, IRF6, IRGQ, ITGAE, ITGAX, ITIH1, ITIH3, IZUMO3, JAGN1, JMJD4, JMJD8, JSRP1, JUND, JUP, KANK1, KAT8, KCNAB2, KCNC3, KCNH3, KCNH5, KDM1B, KDM4C, KDM5B, KDM8, KHSRP, KIAA0020, KIAA0430, KIAA0556, KIAA1549, KIF13A, KIF1B, KIF22, KIF24, KIF6, KISS1R, KLB, KLHL22, KLK1, KLK15, KLK2, KMT2A, KREMEN2, KRT13, KRT15, KRT2, KRT23, KRT8, KRT82, KRT84, KRT9, KRTAP10-4, KRTAP10-5, LAG3, LAMA1, LAMA2, LAMB1, LATS1, LCAT, LCE1E, LCN2, LDHD, LDLR, LEO1, LEPRE1, LEPREL2, LIFR, LILRA3, LILRA4, LILRB1, LILRB2, LILRB5, LINGO3, LINGO4, LLGL1, LMBRD2, LMNB2, LMO2, LPAR5, LPCAT1, LPCAT2, LPPR3, LRIF1, LRP1, LRP10, LRP4, LRRC14B, LRRC16A, LRRC37A, LRRC56, LRRC8E, LRRC9, LRRIQ3, LRTOMT, LSR, LTB, LTBP4, LTBR, LUC7L2, LY6D, LY6G5B, LY6G5C, LY6G6C, LYVE1, MACF1, MADCAM1, MAGEC3, MAN2C1, MAP1B, MAP4K4, MAP4K5, MAPK8, MARCH11, MARCH6, MARK1, MARK4, MAST3, MBD3L2, MBD3L3, MC5R, MCF2L, MCIDAS, MCM7, MED10, MED16, MEGF9, MEI1, MELK, METRN, METTL22, METTL4, METTL6, MFSD6, MGA, MGAM, MICALL2, MIDN, MIEF2, MINK1, MLTK, MNT, MPP3, MPP6, MROH2B, MRPL54, MRPS12, MRPS21, MRPS26, MRPS34, MRS2, MS4A1, MS4A14, MS4A4A, MSLN, MST1R, MTAP, MTRR, MUC12, MUC17, MUC2, MUC5B, MUC6, MUM1, MYBBP1A, MYBPC3, MYH1, MYH10, MYO10, MYO9A, MYO9B, MYOM1, MYOM2, N4BP2L2, NAA40, NADK2, NAGPA, NANOGNB, NARFL, NAT10, NAV1, NBAS, NCAN, NCAPD2, NCR3LG1, NDC80, NDUFB10, NDUFS6, NDUFV2, NEB, NELFCD, NEURL4, NFASC, NFAT5, NID1, NIF3L1, NIPA2, NLGN2, NLRC4, NLRP12, NLRP3, NLRP4, NLRP5, NLRP6, NLRP7, NLRP9, NNT, NOL10, NOL9, NOMO3, NOP14, NOP56, NPC1L1, NPHP4, NPR3, NPRL3, NQO1, NR2C2, NRN1, NSUN2, NTRK3, NUB1, NUP153, OBSCN, OC90, ODF2, OPRK1, OR13J1, OR1C1, OR1F1, OR2H2, OR2S2, OR2T8, OR4S1, OR5A1, OR5H15, OR6C6, OR7D4, OR8B8, OR8H3, ORAI3, ORMDL2, OSBPL5, OSGEP, OSMR, OTOG, P2RX1, PABPC1L2A, PACS1, PAF1, PAFAH2, PAIP1, PALM, PALMD, PAN2, PAN3, PARP14, PATL1, PBRM1, PBX2, PC, PCDHGA11, PCDHGB6, PCDHGC3, PCMTD2, PDCD1LG2, PDE4A, PDE6A, PDGFRB, PDPR, PDZD8, PEG3, PELI3, PER1, PEX11G, PEX5, PFKP, PGM2L1, PGP, PGR, PHKG2, PHRF1, PHYH, PI4KB, PIAS3, PIAS4, PIDD, PIEZO2, PIGO, PIK3AP1, PIK3C2B, PIK3R2, PIWIL1, PKD1, PKD1L2, PKDCC, PKMYT1, PKN3, PLA2G4E, PLB1, PLCD4, PLCXD3, PLD3, PLEKHG4B, PLEKHG5, PLEKHH3, PLEKHM2, PLIN3, PLIN4, PLIN5, PLOD3, PLXDC1, PLXNA2, PLXNB2, PMEL, PMS2, PNPLA2, PNPLA5, PNPLA6, POGZ, POLB, POLD1, POLE, POLM, POLR1E, POLR2A, POLRMT, POMGNT1, POTEC, POTEM, POU2F3, PPP1R12B, PPP1R13L, PPP1R1A, PPP2R5D, PRDM9, PROM2, PRPF31, PRPF4B, PRPF8, PRPSAP1, PRPSAP2, PRR14L, PRR25, PRRT3, PRSS27, PRSS3, PRSS57, PSG1, PSG9, PSKH1, PSMD13, PSMD6, PTGER1, PTGES2, PTGES3L-AARSD1, PTH1R, PTPN12, PTPN14, PTPN7, PTPRG, PTPRM, PTPRN2, PTPRR, PTPRS, PTTG1IP, PVR, PXDC1, PXN, PYROXD2, PZP, QSER1, QSOX1, RAB11FIP2, RAB1B, RABL5, RAD51AP1, RALGAPB, RANBP3L, RAPGEF3, RAPGEF5, RASGRF1, RBM20, RBM23, RCC1, RELN, REXO1, REXO1L1P, RFPL4AL1, RFX7, RGPD4, RHBDL1, RHOT2, RICTOR, RIMS1, RIOK1, RIPK1, RND2, RNF168, RNH1, ROGDI, ROPN1L, RP11-113D6.10, RP11-1396O13.13, RP11-386G21.2, RP11-683L23.1, RPA1, RPAP1, RPH3A, RPL3L, RPL7A, RPL9, RPTOR, RQCD1, RREB1, RUFY2, RUNDC3B, RUNX1T1, RUSC2, RYR2, SAA2, SACM1L, SBF2, SBNO2, SCARA3, SCGB1A1, SCGN, SCN1B, SCN3A, SCYL3, SDHA, SDIM1, SECISBP2L, SEMA3G, SEMA4G, SEMA5A, SEMA6A, SEPP1, SEPT11, SERPINB6, SETD5, SF3B3, SFRP4, SFSWAP, SFTA2, SFXN4, SGSM2, SH2D3A, SH3BP2, SH3TC1, SHB, SHD, SHROOM4, SIDT1, SIGIRR, SIGLEC1, SIN3B, SIPA1, SIRT6, SKP2, SLC11A1, SLC12A6, SLC12A7, SLC13A5, SLC17A2, SLC17A3, SLC17A4, SLC22A12, SLC22A6, SLC24A2, SLC27A2, SLC2A13, SLC35B2, SLC38A11, SLC39A7, SLC51A, SLC6A16, SLC6A18, SLC6A19, SLC6A5, SLC9A3, SLC9A5, SLCO2A1, SLIT2, SMCHD1, SMEK1, SMO, SMR3B, SMUG1, SNAPIN, SNRNP200, SNUPN, SNX15, SNX33, SOBP, SOD2, SOGA1, SOGA2, SOWAHB, SPAG8, SPATA31A1, SPC24, SPEF2, SPEN, SPHK2, SPPL2C, SPRYD3, SPTBN4, SRCAP, STAB2, STK36, STMND1, STOX2, STXBP5L, SUCO, SULT1A2, SUN1, SURF1, SURF6, SUV420H2, SVEP1, SYCP2, SYCP2L, SYNE2, SYNGAP1, SZRD1, TAF3, TAF7, TAP1, TARDBP, TAS2R13, TBXA2R, TCF12, TCF19, TCF25, TCF3, TCHP, TDP2, TEK, TERT, TEX15, TFR2, TFRC, THADA, THEG, TJP3, TLE2, TLR10, TLR7, TMBIM6, TMEM106A, TMEM129, TMEM194A, TMEM200C, TMEM204, TMEM219, TMEM239, TMEM253, TMEM259, TMEM261, TMEM30B, TMEM57, TMIGD2, TMOD3, TMPRSS11F, TMPRSS9, TNFAIP8L2, TNFRSF6B, TNFSF9, TNPO2, TNS1, TNXB, TOM1, TOP1MT, TOP3A, TOPORS, TPD52L3, TPMT, TPPP, TPR, TRAC, TRAK1, TRANK1, TRAPPC10, TRAPPC5, TRAV8-1, TRBV20OR9-2, TRDJ1, TRIM29, TRIM3, TRIM37, TRIM44, TRIM6, TRIM6-TRIM34, TRIM66, TRIO, TRIOBP, TRIP13, TRIT1, TRMT6, TRMT61B, TRPM6, TRPV2, TSC2, TTC3, TTLL10, TTLL12, TTLL3, TTN, TTYH1, TUBA3C, TUBB2A, TUBB4A, TUBGCP3, TULP2, TULP3, TUT1, TXNDC2, TXNL4B, TYRO3, TYW5, UBA2, UBE2G2, UBE2I, UBQLN4, UBR2, UBXN6, UGT3A1, UNC79, USH1C, USP17L2, USP20, USP29, USP47, UTP6, UVRAG, VARS, VARS2, VASH1, VIL1, VPS13B, VPS9D1, VRK3, VWA3A, VWA5A, VWA7, WDR18, WDR19, WDR24, WDR5, WDR90, WFIKKN1, WFS1, WHSC1L1, WIZ, WRNIP1, WT1, XRCC3, YARS, YTHDC2, ZAR1, ZBED4, ZBTB12, ZBTB34, ZBTB5, ZBTB8B, ZC3H18, ZC3H3, ZC3H7B, ZCCHC11, ZCCHC3, ZCCHC7, ZDHHC11B, ZDHHC12, ZDHHC19, ZDHHC4, ZER1, ZFP1, ZFPM1, ZFR2, ZFYVE1, ZIC2, ZMPSTE24, ZMYM2, ZMYM4, ZNF106, ZNF131, ZNF148, ZNF160, ZNF225, ZNF304, ZNF321P, ZNF331, ZNF343, ZNF444, ZNF461, ZNF483, ZNF525, ZNF530, ZNF541, ZNF554, ZNF555, ZNF557, ZNF563, ZNF567, ZNF57, ZNF579, ZNF585A, ZNF587B, ZNF589, ZNF597, ZNF599, ZNF613, ZNF646, ZNF665, ZNF701, ZNF721, ZNF77, ZNF816, ZNF862, ZNF880, ZNRF4, ZRANB3, ZSWIM8, ZZEF1,

Genes at Omim

AARS2, ABCA3, ABCA7, ABCC8, ACTC1, ACTN1, ACVRL1, AGPS, AGRN, AGXT, AHCY, ALDH18A1, ALG3, ALOXE3, ALPL, AMACR, AMH, ANGPTL4, ANKH, AP1S1, AP3D1, AP4E1, APPL1, ASPM, ATM, ATP2A1, C1GALT1C1, C2, C3, C4A, C6, C7, C9, C9orf72, CACNA1F, CACNA1H, CAMTA1, CAPN3, CCDC78, CCDC88A, CCDC88C, CCT5, CDKAL1, CECR1, CEL, CERS1, CFHR5, CHRNA3, CHRNB2, CISH, CIT, CLCN7, CLDN16, CLPB, CNGB1, COCH, COL11A2, COL12A1, COL4A3BP, COMP, CRYAA, CUBN, CYBA, CYP21A2, CYP4F22, DCDC2, DEAF1, DEPDC5, DGKE, DHTKD1, DIAPH1, DNA2, DNAH11, DNAH5, DOCK8, DSP, DTNBP1, DYNC1H1, EARS2, EEF1A2, EEF2, EIF4G1, ELOVL5, ERCC6, ERF, ERMAP, EYS, F13A1, F5, FAM134B, FAM20C, FAM65B, FAM83H, FBN1, FCGR3B, FGFR3, FLNA, FLNC, FREM1, FRMPD4, FUT3, FUT6, FUZ, GALC, GARS, GCNT2, GHR, GIPC3, GLDC, GLIS3, GNAO1, GNMT, GPR179, GPX4, GRHL3, GRK1, GUCY2C, GUF1, HBD, HERC1, HMCN1, HP, HPCA, HUWE1, IFNL3, IFT74, IL1B, IL2RA, IL7R, INF2, INSR, IRF6, JAGN1, JUP, KANK1, KCNC3, KIF1B, KIF22, KISS1R, KLK1, KMT2A, KRT13, KRT2, KRT8, KRT9, LAMA1, LAMA2, LAMB1, LCAT, LDLR, LIFR, LMNB2, LMO2, LRP4, LRTOMT, LTBP4, MS4A1, MST1R, MTAP, MTRR, MUC5B, MYBPC3, MYO9B, NADK2, NBAS, NDUFS6, NDUFV2, NEB, NLRC4, NLRP12, NLRP3, NNT, NOP56, NPC1L1, NPHP4, NPR3, NPRL3, NQO1, NSUN2, OSMR, OTOG, P2RX1, PACS1, PC, PDE6A, PDGFRB, PEX5, PGR, PHKG2, PHYH, PIEZO2, PIGO, PIK3R2, PKD1, PLEKHG5, PLOD3, PMS2, PNPLA2, PNPLA6, POGZ, POLD1, POMGNT1, PPP2R5D, PRPF31, PRPF8, PTPN12, PTPN14, RBM20, RELN, RIMS1, RNF168, ROGDI, RYR2, SBF2, SCN1B, SDHA, SERPINB6, SETD5, SFRP4, SFXN4, SH3BP2, SHROOM4, SLC12A6, SLC13A5, SLC17A3, SLC22A12, SLC6A19, SLC6A5, SLC9A3, SLCO2A1, SMCHD1, SNRNP200, SOBP, SOD2, SRCAP, SURF1, SYNE2, SYNGAP1, TAP1, TARDBP, TBXA2R, TCF12, TCF3, TDP2, TEK, TERT, TFR2, TFRC, TNXB, TOPORS, TPMT, TRAC, TRIM37, TRIM44, TRIO, TRIOBP, TRPM6, TSC2, TTN, TUBB2A, TUBB4A, USH1C, VARS2, VIL1, VPS13B, WDR19, WFS1, WHSC1L1, WT1, XRCC3, YARS, ZIC2, ZMPSTE24,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ABCA3 Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ABCC8 Diabetes mellitus, noninsulin-dependent, 125853 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, transient neonatal 2, 610374 (3)
Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
ACTC1 Atrial septal defect 5, 612794 (3)
Cardiomyopathy, dilated, 1R, 613424 (3)
Cardiomyopathy, hypertrophic, 11, 612098 (3)
Left ventricular noncompaction 4, 613424 (3)
ACTN1 Bleeding disorder, platelet-type, 15, 615193 (3)
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)
AGPS Rhizomelic chondrodysplasia punctata, type 3, 600121 (3)
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
AGXT Hyperoxaluria, primary, type 1, 259900 (3)
AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3)
ALDH18A1 Cutis laxa, autosomal dominant 3, 616603 (3)
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
Spastic paraplegia 9A, autosomal dominant, 601162 (3)
Spastic paraplegia 9B, autosomal recessive, 616586 (3)
ALG3 Congenital disorder of glycosylation, type Id, 601110 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ALPL Hypophosphatasia, adult, 146300 (3)
Hypophosphatasia, childhood, 241510 (3)
Hypophosphatasia, infantile, 241500 (3)
Odontohypophosphatasia, 146300 (3)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
ANGPTL4 Plasma triglyceride level QTL, low, 615881 (3)
ANKH Chondrocalcinosis 2, 118600 (3)
Craniometaphyseal dysplasia, 123000 (3)
AP1S1 MEDNIK syndrome, 609313 (3)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (3)
AP4E1 Spastic paraplegia 51, autosomal recessive, 613744 (3)
Stuttering, familial persistent, 1, 184450 (3)
APPL1 {Maturity-onset diabetes of the young, type 14}, 616511 (3)
ASPM Microcephaly 5, primary, autosomal recessive, 608716 (3)
ATM Ataxia-telangiectasia, 208900 (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, mantle cell, somatic (3)
T-cell prolymphocytic leukemia, somatic (3)
{Breast cancer, susceptibility to}, 114480 (3)
ATP2A1 Brody myopathy, 601003 (3)
C1GALT1C1 Tn polyagglutination syndrome, somatic, 300622 (3)
C2 C2 deficiency, 217000 (3)
{Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)
C3 C3 deficiency, 613779 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
C4A C4a deficiency, 614380 (3)
[Blood group, Rodgers], 614374 (3)
C6 C6 deficiency, 612446 (3)
Combined C6/C7 deficiency (3)
C7 C7 deficiency, 610102 (3)
C9 C9 deficiency, 613825 (3)
{Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)
C9orf72 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)
CACNA1F Aland Island eye disease, 300600 (3)
Cone-rod dystrophy, X-linked, 3, 300476 (3)
Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3)
CACNA1H Hyperaldosteronism, familial, type IV, 617027 (3)
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3)
CAPN3 Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CCDC78 Myopathy, centronuclear, 4, 614807 (3)
CCDC88A PEHO syndrome, 260565 (3)
CCDC88C ?Spinocerebellar ataxia 40, 616053 (3)
Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CDKAL1 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
CECR1 ?Sneddon syndrome, 182410 (3)
Polyarteritis nodosa, childhood-onset, 615688 (3)
CEL Maturity-onset diabetes of the young, type VIII, 609812 (3)
CERS1 ?Epilepsy, progressive myoclonic, 8, 616230 (3)
CFHR5 Nephropathy due to CFHR5 deficiency, 614809 (3)
CHRNA3 {Lung cancer susceptibility 2}, 612052 (3)
CHRNB2 Epilepsy, nocturnal frontal lobe, 3, 605375 (3)
CISH {Bacteremia, susceptibility to}, 614383 (3)
{Malaria, susceptibility to}, 611162 (3)
{Tuberculosis, susceptibility to}, 607948 (3)
CIT Microcephaly 17, primary, autosomal recessive, 617090 (3)
CLCN7 Osteopetrosis, autosomal dominant 2, 166600 (3)
Osteopetrosis, autosomal recessive 4, 611490 (3)
CLDN16 Hypomagnesemia 3, renal, 248250 (3)
CLPB 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)
CNGB1 Retinitis pigmentosa 45, 613767 (3)
COCH Deafness, autosomal dominant 9, 601369 (3)
COL11A2 Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal recessive 53, 609706 (3)
Fibrochondrogenesis 2, 614524 (3)
Otospondylomegaepiphyseal dysplasia, 215150 (3)
Stickler syndrome, type III, 184840 (3)
Weissenbacher-Zweymuller syndrome, 277610 (3)
COL12A1 ?Ullrich congenital muscular dystrophy 2, 616470 (3)
Bethlem myopathy 2, 616471 (3)
COL4A3BP Mental retardation, autosomal dominant 34, 616351 (3)
COMP Epiphyseal dysplasia, multiple, 1, 132400 (3)
Pseudoachondroplasia, 177170 (3)
CRYAA Cataract 9, multiple types, 604219 (3)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
CYP4F22 Ichthyosis, congenital, autosomal recessive 5, 604777 (3)
DCDC2 ?Deafness, autosomal recessive 66, 610212 (3)
Nephronophthisis 19, 616217 (3)
DEAF1 Mental retardation, autosomal dominant 24, 615828 (3)
DEPDC5 Epilepsy, familial focal, with variable foci 1, 604364 (3)
DGKE Nephrotic syndrome, type 7, 615008 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
DIAPH1 Deafness, autosomal dominant 1, 124900 (3)
Seizures, cortical blindness, microcephaly syndrome, 616632 (3)
DNA2 ?Seckel syndrome 8, 615807 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
DTNBP1 Hermansky-Pudlak syndrome 7, 614076 (3)
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)
Mental retardation, autosomal dominant 13, 614563 (3)
Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
EARS2 Combined oxidative phosphorylation deficiency 12, 614924 (3)
EEF1A2 Epileptic encephalopathy, early infantile, 33, 616409 (3)
Mental retardation, autosomal dominant 38, 616393 (3)
EEF2 ?Spinocerebellar ataxia 26, 609306 (3)
EIF4G1 {Parkinson disease 18}, 614251 (3)
ELOVL5 Spinocerebellar ataxia 38, 615957 (3)
ERCC6 Cerebrooculofacioskeletal syndrome 1, 214150 (3)
Cockayne syndrome, type B, 133540 (3)
De Sanctis-Cacchione syndrome, 278800 (3)
Premature ovarian failure 11, 616946 (3)
UV-sensitive syndrome 1, 600630 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Macular degeneration, age-related, susceptibility to 5}, 613761 (3)
ERF Craniosynostosis 4, 600775 (3)
ERMAP [Blood group, Radin], 111620 (3)
[Blood group, Scianna system], 111750 (3)
EYS Retinitis pigmentosa 25, 602772 (3)
F13A1 Factor XIIIA deficiency, 613225 (3)
{Myocardial infarction, protection against}, 608446 (3)
{Venous thrombosis, protection against}, 188050 (3)
F5 Factor V deficiency, 227400 (3)
Thrombophilia due to activated protein C resistance, 188055 (3)
{Budd-Chiari syndrome}, 600880 (3)
{Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
{Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3)
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
FAM20C Raine syndrome, 259775 (3)
FAM65B ?Deafness, autosomal recessive 104, 616515 (3)
FAM83H Amelogenesis imperfecta, type III, 130900 (3)
FBN1 Acromicric dysplasia, 102370 (3)
Aortic aneurysm, ascending, and dissection (3)
Ectopia lentis, familial, 129600 (3)
Geleophysic dysplasia 2, 614185 (3)
MASS syndrome, 604308 (3)
Marfan lipodystrophy syndrome, 616914 (3)
Marfan syndrome, 154700 (3)
Stiff skin syndrome, 184900 (3)
Weill-Marchesani syndrome 2, dominant, 608328 (3)
FCGR3B Neutropenia, alloimmune neonatal (3)
FGFR3 Achondroplasia, 100800 (3)
Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
Hypochondroplasia, 146000 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FLNA Cardiac valvular dysplasia, X-linked, 314400 (3)
Congenital short bowel syndrome, 300048 (3)
FG syndrome 2, 300321 (3)
Frontometaphyseal dysplasia 1, 305620 (3)
Heterotopia, periventricular, 300049 (3)
Intestinal pseudoobstruction, neuronal, 300048 (3)
Melnick-Needles syndrome, 309350 (3)
Otopalatodigital syndrome, type I, 311300 (3)
Otopalatodigital syndrome, type II, 304120 (3)
Terminal osseous dysplasia, 300244 (3)
FLNC Cardiomyopathy, familial hypertrophic, 26 (3)
Cardiomyopathy, familial restrictive 5, 617047 (3)
Myopathy, distal, 4, 614065 (3)
Myopathy, myofibrillar, 5, 609524 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FRMPD4 Mental retardation, X-linked 104, 300983 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
FUZ Neural tube defects, 182940 (3)
GALC Krabbe disease, 245200 (3)
GARS Charcot-Marie-Tooth disease, type 2D, 601472 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
GCNT2 Adult i phenotype without cataract, 110800 (3)
Cataract 13 with adult i phenotype, 116700 (3)
[Blood group, Ii], 110800 (3)
GHR Growth hormone insensitivity, partial, 604271 (3)
Increased responsiveness to growth hormone (3)
Laron dwarfism, 262500 (3)
{Hypercholesterolemia, familial, modifier of}, 143890 (3)
GIPC3 Deafness, autosomal recessive 15, 601869 (3)
GLDC Glycine encephalopathy, 605899 (3)
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
GNAO1 Epileptic encephalopathy, early infantile, 17, 615473 (3)
GNMT Glycine N-methyltransferase deficiency, 606664 (3)
GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GRHL3 Van der Woude syndrome 2, 606713 (3)
GRK1 Oguchi disease-2, 613411 (3)
GUCY2C Diarrhea 6, 614616 (3)
Meconium ileus, 614665 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
HBD Thalassemia due to Hb Lepore (3)
Thalassemia, delta- (3)
HERC1 Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HP [Anhaptoglobinemia], 614081 (3)
[Hypohaptoglobinemia], 614081 (3)
HPCA Dystonia 2, torsion, autosomal recessive, 224500 (3)
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 (3)
IFNL3 {Hepatitis C virus infection, response to therapy of}, 609532 (3)
IFT74 ?Bardet-Biedl syndrome 20, 617119 (3)
IL1B {Gastric cancer risk after H. pylori infection}, 137215 (3)
IL2RA Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3)
{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3)
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
INF2 Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
Glomerulosclerosis, focal segmental, 5, 613237 (3)
INSR Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)
Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)
Leprechaunism, 246200 (3)
Rabson-Mendenhall syndrome, 262190 (3)
IRF6 Popliteal pterygium syndrome 1, 119500 (3)
van der Woude syndrome, 119300 (3)
{Orofacial cleft 6}, 608864 (3)
JAGN1 Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)
JUP Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
Naxos disease, 601214 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KIF1B ?Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
Pheochromocytoma, 171300 (3)
{Neuroblastoma, susceptibility to, 1}, 256700 (3)
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
KISS1R ?Precocious puberty, central, 1, 176400 (3)
Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3)
KLK1 [Kallikrein, decreased urinary activity of], 615953 (3)
KMT2A Leukemia, myeloid/lymphoid or mixed-lineage (2)
Wiedemann-Steiner syndrome, 605130 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT2 Ichthyosis bullosa of Siemens, 146800 (3)
KRT8 Cirrhosis, cryptogenic, 215600 (3)
{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LAMA2 Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
LAMB1 Lissencephaly 5, 615191 (3)
LCAT Fish-eye disease, 136120 (3)
Norum disease, 245900 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
LMNB2 ?Epilepsy, progressive myoclonic, 9, 616540 (3)
{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
LMO2 Leukemia, acute T-cell (2)
LRP4 ?Myasthenic syndrome, congenital, 17, 616304 (3)
Cenani-Lenz syndactyly syndrome, 212780 (3)
Sclerosteosis 2, 614305 (3)
LRTOMT Deafness, autosomal recessive 63, 611451 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MS4A1 Immunodeficiency, common variable, 5, 613495 (3)
MST1R {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MYBPC3 Cardiomyopathy, dilated, 1MM, 615396 (3)
Cardiomyopathy, hypertrophic, 4, 115197 (3)
Left ventricular noncompaction 10, 615396 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NADK2 ?2,4-dienoyl-CoA reductase deficiency, 616034 (3)
NBAS Infantile liver failure syndrome 2, 616483 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NDUFS6 Mitochondrial complex I deficiency, 252010 (3)
NDUFV2 Mitochondrial complex I deficiency, 252010 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (3)
NLRC4 ?Familial cold autoinflammatory syndrome 4, 616115 (3)
Autoinflammation with infantile enterocolitis, 616050 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NLRP3 CINCA syndrome, 607115 (3)
Familial cold-induced inflammatory syndrome 1, 120100 (3)
Muckle-Wells syndrome, 191900 (3)
NNT Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
NPC1L1 [Ezetimibe, nonresponse to] (3)
NPHP4 Nephronophthisis 4, 606966 (3)
Senior-Loken syndrome 4, 606996 (3)
NPR3 ?Hypertension, salt-resistant (1)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
NQO1 {Benzene toxicity, susceptibility to} (3)
{Breast cancer, poor survival after chemotherapy for} (3)
{Leukemia, post-chemotherapy, susceptibility to} (3)
NSUN2 Mental retardation, autosomal recessive 5, 611091 (3)
OSMR Amyloidosis, primary localized cutaneous, 1, 105250 (3)
OTOG Deafness, autosomal recessive 18B, 614945 (3)
P2RX1 Bleeding disorder due to P2RX1 defect, somatic, 609821 (3)
PACS1 Schuss-Hoeijmakers sydnrome, 615009 (3)
PC Pyruvate carboxylase deficiency, 266150 (3)
PDE6A Retinitis pigmentosa 43, 613810 (3)
PDGFRB Basal ganglia calcification, idiopathic, 4, 615007 (3)
Kosaki overgrowth syndrome, 616592 (3)
Myeloproliferative disorder with eosinophilia, 131440 (4)
Myofibromatosis, infantile, 1, 228550 (3)
Premature aging syndrome, Penttinen type, 601812 (3)
PEX5 Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3)
Peroxisome biogenesis disorder 2B, 202370 (3)
Rhizomelic chondrodysplasia punctata, type 5, 616716 (3)
PGR ?Progesterone resistance, 264080 (2)
PHKG2 Cirrhosis due to liver phosphorylase kinase deficiency (3)
Glycogen storage disease IXc, 613027 (3)
PHYH Refsum disease, 266500 (3)
PIEZO2 ?Marden-Walker syndrome, 248700 (3)
Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
PIGO Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PKD1 Polycystic kidney disease, adult type I, 173900 (3)
PLEKHG5 Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3)
Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)
PLOD3 Lysyl hydroxylase 3 deficiency, 612394 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
PNPLA6 ?Laurence-Moon syndrome, 245800 (3)
Boucher-Neuhauser syndrome, 215470 (3)
Oliver-McFarlane syndrome, 275400 (3)
Spastic paraplegia 39, autosomal recessive, 612020 (3)
POGZ White-Sutton syndrome, 616364 (3)
POLD1 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)
{Colorectal cancer, susceptibility to, 10}, 612591 (3)
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3)
Retinitis pigmentosa 76, 617123 (3)
PPP2R5D Mental retardation, autosomal dominant 35, 616355 (3)
PRPF31 Retinitis pigmentosa 11, 600138 (3)
PRPF8 Retinitis pigmentosa 13, 600059 (3)
PTPN12 Colon cancer, somatic, 114500 (3)
PTPN14 Choanal atresia and lymphedema, 613611 (3)
RBM20 Cardiomyopathy, dilated, 1DD, 613172 (3)
RELN Lissencephaly 2 (Norman-Roberts type), 257320 (3)
{Epilepsy, familial temporal lobe, 7}, 616436 (3)
RIMS1 Cone-rod dystrophy 7, 603649 (3)
RNF168 RIDDLE syndrome, 611943 (3)
ROGDI Kohlschutter-Tonz syndrome, 226750 (3)
RYR2 Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
SBF2 Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
SCN1B Atrial fibrillation, familial, 13, 615377 (3)
Brugada syndrome 5, 612838 (3)
Cardiac conduction defect, nonspecific, 612838 (3)
Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SERPINB6 ?Deafness, autosomal recessive 91, 613453 (3)
SETD5 Mental retardation, autosomal dominant 23, 615761 (3)
SFRP4 Pyle disease, 265900 (3)
SFXN4 Combined oxidative phosphorylation deficiency 18, 615578 (3)
SH3BP2 Cherubism, 118400 (3)
SHROOM4 ?Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
SLC13A5 Epileptic encephalopathy, early infantile, 25, 615905 (3)
SLC17A3 [Uric acid concentration, serum, QTL4], 612671 (3)
{Gout susceptibility 4}, 612671 (3)
SLC22A12 Hypouricemia, renal, 220150 (3)
SLC6A19 Hartnup disorder, 234500 (3)
Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC6A5 Hyperekplexia 3, 614618 (3)
SLC9A3 Diarrhea 8, secretory sodium, congenital, 616868 (3)
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
SNRNP200 Retinitis pigmentosa 33, 610359 (3)
SOBP Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)
SOD2 {Microvascular complications of diabetes 6}, 612634 (3)
SRCAP Floating-Harbor syndrome, 136140 (3)
SURF1 Charcot-Marie-Tooth disease, type 4K, 616684 (3)
Leigh syndrome, due to COX IV deficiency, 256000 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
SYNGAP1 Mental retardation, autosomal dominant 5, 612621 (3)
TAP1 Bare lymphocyte syndrome, type I, 604571 (3)
TARDBP Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3)
Frontotemporal lobar degeneration, TARDBP-related, 612069 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TCF12 Craniosynostosis 3, 615314 (3)
TCF3 Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TDP2 Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
TEK Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TERT {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3)
{Dyskeratosis congenita, autosomal recessive 4}, 613989 (3)
{Leukemia, acute myeloid}, 601626 (3)
{Melanoma, cutaneous malignant, 9}, 615134 (3)
{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3)
TFR2 Hemochromatosis, type 3, 604250 (3)
TFRC Immunodeficiency 46, 616740 (3)
TNXB Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TOPORS Retinitis pigmentosa 31, 609923 (3)
TPMT {Thiopurines, poor metabolism of, 1}, 610460 (3)
TRAC Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)
TRIM37 Mulibrey nanism, 253250 (3)
TRIM44 ?Aniridia 3, 617142 (3)
TRIO Mental retardation, autosomal dominant 44, 617061 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
TSC2 Lymphangioleiomyomatosis, somatic, 606690 (3)
Tuberous sclerosis-2, 613254 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, type 2J, 608807 (3)
Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
TUBB2A Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)
TUBB4A Dystonia 4, torsion, autosomal dominant, 128101 (3)
Leukodystrophy, hypomyelinating, 6, 612438 (3)
USH1C Deafness, autosomal recessive 18A, 602092 (3)
Usher syndrome, type 1C, 276904 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)
VIL1 Cholestasis, progressive canalicular (1)
VPS13B Cohen syndrome, 216550 (3)
WDR19 ?Cranioectodermal dysplasia 4, 614378 (3)
?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)
Nephronophthisis 13, 614377 (3)
Senior-Loken syndrome 8, 616307 (3)
WFS1 ?Cataract 41, 116400 (3)
Deafness, autosomal dominant 6/14/38, 600965 (3)
Wolfram syndrome, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)
WHSC1L1 Leukemia, acute myeloid, 601626 (3)
WT1 Denys-Drash syndrome, 194080 (3)
Frasier syndrome, 136680 (3)
Meacham syndrome, 608978 (3)
Mesothelioma, somatic, 156240 (3)
Nephrotic syndrome, type 4, 256370 (3)
Wilms tumor, type 1, 194070 (3)
XRCC3 {Breast cancer, susceptibility to}, 114480 (3)
{Melanoma, cutaneous malignant, 6}, 613972 (3)
YARS Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3)
ZIC2 Holoprosencephaly 5, 609637 (3)
ZMPSTE24 Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3)
Restrictive dermopathy, lethal, 275210 (3)

Genes at Clinical Genomics Database

AARS2, ABCA3, ABCC8, ACTC1, ACTN1, ACVRL1, AGPS, AGRN, AGXT, AHCY, ALDH18A1, ALG3, ALOXE3, ALPL, AMACR, AMH, ANKH, AP1S1, AP4E1, APPL1, ASPM, ATM, ATP2A1, ATP6V1B1, C2, C3, C4A, C6, C7, C9, CACNA1F, CAMTA1, CAPN3, CCDC14, CCDC88C, CCT5, CD27, CECR1, CEL, CERS1, CHRNB2, CLCN7, CLDN16, CLPB, CNGB1, COCH, COL11A2, COL12A1, COL4A3BP, COMP, CRYAA, CUBN, CYBA, CYP21A2, CYP4F22, DCDC2, DEAF1, DEPDC5, DGKE, DHTKD1, DIAPH1, DNA2, DNAH1, DNAH11, DNAH5, DOCK8, DSP, DTNBP1, DYNC1H1, EARS2, EEF1A2, EIF4G1, ELOVL5, ERCC6, ERF, ERMAP, EYS, F13A1, F5, FAM134B, FAM20C, FAM65B, FAM83H, FBN1, FGFR3, FLNA, FLNC, FREM1, FUT3, FUT6, FUZ, GALC, GARS, GCNT2, GHR, GIPC3, GLDC, GLIS3, GNAO1, GNMT, GPR179, GPX4, GRHL3, GRK1, GUCY2C, HMCN1, HP, HPCA, HUWE1, IFNL3, IL2RA, IL7R, INF2, INSR, IRF6, JAGN1, JUP, KANK1, KCNC3, KIAA0556, KIF1B, KIF22, KISS1R, KMT2A, KRT13, KRT2, KRT9, LAMA1, LAMA2, LAMB1, LCAT, LDLR, LIFR, LMNB2, LRP1, LRP4, LRTOMT, LTBP4, MS4A1, MTAP, MTRR, MYBPC3, NADK2, NBAS, NDUFS6, NDUFV2, NEB, NLRC4, NLRP12, NLRP3, NLRP7, NNT, NOP56, NPC1L1, NPHP4, OSMR, OTOG, PACS1, PBRM1, PC, PDE6A, PDGFRB, PEX5, PHKG2, PHYH, PIEZO2, PIGO, PIK3R2, PKD1, PLEKHG5, PLOD3, PMS2, PNPLA2, PNPLA6, POGZ, POLD1, POLE, POMGNT1, PPP2R5D, PRPF31, PRPF8, PTH1R, PTPN14, RBM20, RELN, RIMS1, RNF168, ROGDI, RYR2, SBF2, SCN1B, SDHA, SERPINB6, SETD5, SFXN4, SH3BP2, SHROOM4, SLC12A6, SLC13A5, SLC22A12, SLC6A19, SLC6A5, SLCO2A1, SMCHD1, SNRNP200, SOBP, SRCAP, SURF1, SYNE2, SYNGAP1, TAP1, TARDBP, TBXA2R, TCF12, TCF3, TDP2, TEK, TERT, TFR2, TFRC, TNXB, TOPORS, TPMT, TRAC, TRIM37, TRIOBP, TRPM6, TSC2, TTN, TUBB2A, TUBB4A, USH1C, VARS2, VPS13B, WDR19, WFS1, WT1, YARS, ZIC2, ZMPSTE24,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
ABCA3 Interstitial lung disease
Surfactant metabolism dysfunction, pulmonary, 3
ABCC8 Hypoglycemia, leucine-induced
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes, permanent neonatal
Diabetes mellitus, transient neonatal, 2
ACTC1 Atrial septal defect 5
Left ventricular noncompaction
Cardiomyopathy, restrictive
Cardiomyopathy, familial hypertrophic 11
Cardiomyopathy, dilated , 1R
ACTN1 Bleeding disorder, platelet-type, 15
ACVRL1 Hereditary hemorrhagic telangiectasia, type 2
AGPS Rhizomelic chondrodysplasia punctata, type 3
AGRN Myasthenic syndrome, congenital 8
AGXT Hyperoxaluria, primary, type 1
AHCY Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency
ALDH18A1 Spastic paraplegia 9B, autosomal recessive
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal dominant 3
ALG3 Congenital disorder of glycosylation, type Id
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
ALPL Odontohypophosphatasia
Hypophosphatasia, infantile
AMACR Alpha-methylacyl-CoA racemase deficiency
Bile acid synthesis defect, congenital, 4
AMH Persistent Mullerian duct syndrome, type I
ANKH Chondrocalcinosis 2
Craniometaphyseal dysplasia
AP1S1 MEDNIK syndrome
AP4E1 Spastic paraplegia 51, autosomal recessive
Stuttering, familial persistent, 1
APPL1 Maturity-onset diabetes of the young, type 14
ASPM Microcephaly, primary autosomal recessive, 5
ATM Ataxia-Telangiectasia
Breast cancer, susceptibility to
ATP2A1 Brody myopathy
ATP6V1B1 Renal tubular acidosis with deafness
C2 Complement component 2 deficiency
C3 Hemolytic uremic syndrome, atypical, susceptibility to, 5
Complement component 3 deficiency, autosomal recessive
C4A Blood group, Chido/Rodgers system
C6 Complement component 6 deficiency
C7 Complement component 7 deficiency
C9 Complement component 9 deficiency
CACNA1F Night blindness, congenital stationary, X-linked, type 2A
Cone-rod dystrophy, X-linked, 3
Aland Island eye disease
CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation
CAPN3 Eosinophilic myositis
Muscular dystrophy, limb-girdle, type 2A
CCDC14 Hypotonia, infantile, with psychomotor retardation
CCDC88C Spinocerebellar ataxia 40
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CD27 Lymphoproliferative syndrome 2
CECR1 Sneddon syndrome
Polyarteritis nodosa, childhood-onset (ADA2 deficiency)
CEL Maturity-onset diabetes of the young, type 8
CERS1 Epilepsy, progressive myoclonic 8
CHRNB2 Epilepsy, nocturnal frontal lobe, type 3
CLCN7 Osteopetrosis, autosomal recessive 4
Osteopetrosis, autosomal dominant 2
CLDN16 Hypomagnesemia 3, renal
CLPB 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)
CNGB1 Retinitis pigmentosa 45
COCH Deafness, autosomal dominant 9
COL11A2 Stickler syndrome, type III
Otospondylomegaepiphyseal dysplasia
Weissenbacher-Zweymuller syndrome
Fibrochondrogenesis 2
Deafness, autosomal recessive 53
Deafness, autosomal dominant 13
COL12A1 Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
COL4A3BP Mental retardation, autosomal dominant 34
COMP Multiple ephiphyseal dysplasia
Pseudoachondroplasia
CRYAA Cataract 9, multiple types
CUBN Megaloblastic anemia-1, Finnish type
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA
CYP21A2 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
CYP4F22 Ichthyosis, congenital, autosomal recessive 5
DCDC2 Deafness, autosomal recessive 66
DEAF1 Mental retardation, autosomal dominant 24
DEPDC5 Epilepsy, familial focal, with variable foci
DGKE Nephrotic syndrome, type 7
DHTKD1 2-aminoadipic and 2-oxoadipic aciduria
Charcot-Marie-Tooth disease, type 2Q
DIAPH1 Deafness, autosomal dominant 1
DNA2 Seckel syndrome 8
Progressive external ophthalmoplegia with mitochondrial deletions, autosomal dominant, 6
DNAH1 Spermatogenic failure
DNAH11 Ciliary dyskinesia, primary, 7
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DSP Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Cardiomyopathy, dilated, with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia, familial 8
DTNBP1 Hermansky-Pudlak syndrome 7
DYNC1H1 Spinal muscular atrophy, lower extremity, autosomal dominant
Mental retardation, autosomal dominant 13
Charcot-Marie-Tooth disease, axonal, type 2O
EARS2 Combined oxidative phosphorylation deficiency 12
EEF1A2 Mental retardation, autosomal dominant 28
Epileptic encephalopathy, early infantile, 33
EIF4G1 Macular dystrophy with central cone involvement
Parkinson disease 18
ELOVL5 Spinocerebellar ataxia 39
ERCC6 Premature ovarian failure 11 (AD)
De Sanctis-Cacchione syndrome
Xeroderma Pigmentosum-Cockayne Syndrome
ERF Craniosynostosis 4
ERMAP Blood group, Radin
Blood group, Scianna system
EYS Retitinis pigmentosa 25
F13A1 Factor XIIIA deficiency
F5 Factor V deficiency
Thrombophilia due to activated protein C resistance
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB
FAM20C Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FAM65B Deafness, autosomal recessive 104
FAM83H Amelogenesis imperfecta, type 3
FBN1 Marfan lipodystrophy syndrome
Shprintzen-Goldberg syndrome
MASS syndrome
Marfan syndrome
FGFR3 Muenke syndrome
Lacrimoauriculodentodigital syndrome (AD)
Crouzon syndrome with acanthosis nigricans
Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
FLNA Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome
Heterotopia, periventricular, Ehlers-Danlos variant
Cardiac valvular dysplasia, X-linked
FLNC Myopathy, myofibrillar, 5
Myopathy, distal, 4
FREM1 Congenital diaphragmatic hernia, autosomal recessive
Manitoba oculotrichoanal syndrome
Trigonocephaly 2
Bifid nose with or without anorectal and renal anomalies
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
FUZ Neural tube defects, susceptibility to
GALC Krabbe disease
GARS Neuropathy, distal hereditary motor, type V
Charcot-Marie-Tooth disease, type 2D
GCNT2 Cataract 13 with adult i phenotype
Adult i phenotype without cataract
Blood group, Ii
GHR Growth hormone insensitivity syndrome (Laron syndrome)
GIPC3 Deafness, autosomal recessive 15
GLDC Glycine encephalopathy
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
GNAO1 Epileptic encephalopathy, early infantile, 17
GNMT Glycine N-methyltransferase deficiency
GPR179 Night blindness, congenital stationary, type 1E
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GRHL3 van der Woude syndrome 2
GRK1 Oguchi disease 2
GUCY2C Meconium ileus
Diarrhea 6
HMCN1 Macular degeneration, age-related, 1
HP Hypohaptoglobinemia
Anhaptoglobinemia
HPCA Dystonia 2, torsion, autosomal recessive
HUWE1 Mental retardation, X-linked syndromic, Turner type
IFNL3 Drug metabolism, IL28B-related
IL2RA Interleukin 2 receptor, alpha, deficiency of
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
INF2 Charcot-Marie-Tooth disease, dominant intermediate E
Focal segmental glomerulosclerosis 5
INSR Donohoe syndrome
Rabson-Mendenhall syndrome
Hyperinsulinemic hypoglycemia, familial, 5
IRF6 Orofacial cleft 6
van der Woude syndrome 1
Popliteal pterygium syndrome
JAGN1 Neutropenia, severe congenital, 6
JUP Naxos disease
Arrhythmogenic right ventricular dysplasia, familial, 12
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNC3 Spinocerebellar ataxia 13
KIAA0556 Joubert syndrome 26
KIF1B Pheochromocytoma
Neuroblastoma, susceptibility to
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
KMT2A Wiedemann-Steiner syndrome
KRT13 White sponge nevus 2
KRT2 Ichthyosis exfoliativa
Ichthyosis bullosa of Siemens
KRT9 Knuckle pads
Palmoplantar keratoderma, epidermolytic
LAMA1 Poretti-Boltshauser syndrome
LAMA2 Schizophrenia
Muscular dystrophy, congenital merosin-deficient, 1A
LAMB1 Lissencephaly 5
LCAT Fish-eye disease
Lecithin:cholesterol acyltransferase deficiency (Norum disease)
LDLR Hypercholesterolemia, familial
LIFR Stuve-Wiedemann syndrome
LMNB2 Epilepsy, progressive myoclonic, 9
Liopdystrophy, partial, acquired
LRP1 Schizophrenia
LRP4 Sclerosteosis 2
Myasthenic syndrome, congenital 17
Cenani-Lenz syndactyly syndrome
LRTOMT Deafness, autosomal recessive 63
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MS4A1 Immunodeficiency, common variable, 5
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
MYBPC3 Left ventricular noncompaction 10
Cardiomyopathy, dilated, 1MM
Cardiomyopathy, familial hypertrophic, 4
NADK2 2,4-dienoyl-CoA reductase deficiency
NBAS Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
Infantile liver failure syndrome 2
NDUFS6 Mitochondrial complex I deficiency
NDUFV2 Mitochondrial complex I deficiency
NEB Nemaline myopathy 2
NLRC4 Familial cold autoinflammatory syndrome 4
Autoinflammation with infantile enterocolitis (AIFEC)
NLRP12 Familial cold autoinflammatory syndrome 2
NLRP3 Muckle-Wells syndrome
Neonatal Onset Multisystem Inflammatory Disease (NOMID)
Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome
NLRP7 Hydatidiform mole, recurrent, 1
NNT Glucocorticoid deficiency 4
NOP56 Spinocerebellar ataxia 36
NPC1L1 Ezetimibe, nonresponse to
NPHP4 Senior-Loken syndrome 4
Nephronophthisis 4
OSMR Amyloidosis, primary localized cutaneous, 1
OTOG Deafness, autosomal recessive 18B
PACS1 Mental retardation, autosomal dominant 17
PBRM1 Clear cell renal cell carcinoma
PC Pyruvate carboxylase deficiency
PDE6A Retinitis pigmentosa 43
PDGFRB Premature aging syndrome, Penttinen type
Myofibromatosis, infantile 1
Kosaki overgrowth syndrome
Basal ganglia calcification, idiopathic, 4
PEX5 Rhizomelic chondrodysplasia punctata, type 5
Adrenoleukodystrophy, neonatal
Zellweger syndrome
Peroxisome biogenesis disorder, 5
PHKG2 Glycogen storage disease IXc
PHYH Refsum disease
PIEZO2 Marden-Walker syndrome
Distal arthrogryposis type 5
Distal arthrogryposis type 3
PIGO Hyperphosphatasia with mental retardation syndrome 2
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PKD1 Polycystic kidney disease, adult type I
PLEKHG5 Spinal muscular atrophy, distal, autosomal recessive, 4
Charcot-Marie-Tooth disease C, recessive intermediate
PLOD3 Bone fragility with contractures, arterial rupture, and deafness
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4
PNPLA2 Neutral lipid storage disease with myopathy
PNPLA6 Oliver-McFarlane syndrome
Laurence-Moon syndrome
Boucher-Neuhauser syndrome
POGZ Mental retardation, autosomal dominant 37 (White-Sutton syndrome)
POLD1 Colorectal cancer, susceptibility to, 10
POLE Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
Colorectal cancer, susceptibility to, 12
POMGNT1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
PPP2R5D Mental retardation, autosomal dominant 35
PRPF31 Retinitis pigmentosa 11
PRPF8 Retinitis pigmentosa 13
PTH1R Failure of tooth eruption, primary
Metaphyseal chondrodysplasia, Murk Jansen type
Chondrodysplasia, Blomstrand type
Eiken syndrome
PTPN14 Choanal atresia and lymphedema
RBM20 Cardiomyopathy, dilated, 1DD
RELN Lissencephaly 2
Epilepsy, familial temporal lobe, 7
RIMS1 Cone-rod dystrophy 7
RNF168 RIDDLE syndrome
ROGDI Kohlschutter-Tonz syndrome
RYR2 Arrhythmogenic right ventricular dysplasia 2
Ventricular tachycardia, catecholaminergic polymorphic, 1
SBF2 Charcot-Marie-Tooth disease, type 4B2 with early-onset glaucoma
SCN1B Brugada syndrome 5
Atrial fibrillation, familial 13
SDHA Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
Cardiomyopathy, dilated, 1GG
Gastrointestinal stromal tumors
Paragangliomas 5
SERPINB6 Deafness, autosomal recessive 91
SETD5 Mental retardation, autosomal dominant 23
SFXN4 Combined oxidative phosphorylation deficiency 18
SH3BP2 Cherubism
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
SLC13A5 Epileptic encephalopathy, early infantile 25
SLC22A12 Hypouricemia, renal 1
SLC6A19 Hartnup disease
SLC6A5 Hyperekplexia 3
SLCO2A1 Primary hypertrophic osteoarthropathy
Hypertrophic osteoarthropathy, primary, autosomal recessive 2
SMCHD1 Facioscapulohumeral muscular dystrophy, type 2
SNRNP200 Retinitis pigmentosa 33
SOBP Mental retardation, anterior maxillary protrusion, and strabismus
SRCAP Floating-Harbor syndrome
SURF1 Leigh syndrome
Charcot-Marie-Tooth disease type 4K
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNGAP1 Mental retardation, autosomal dominant 5
TAP1 Bare lymphocyte syndrome, type I
TARDBP Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TCF12 Craniosynostosis 3
TCF3 Agammaglobulinemia 8, autosomal dominant
TDP2 Spinocerebellar ataxia, autosomal recessive 23
TEK Venous malformations, multiple cutaneous and mucosal
TERT Pulmonary fibrosis and/or bone marrow failure, telomere-related 1
Dyskeratosis congenita, autosomal recessive
Dyskeratosis congenita, autosomal dominant
Aplastic anemia
TFR2 Hemochromatosis, type 3
TFRC Immunodeficiency 46
TNXB Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
Vesicoureteral reflux 8
TOPORS Retitinis pigmentosa 31
TPMT Thiopurine S-methyltransferase deficiency
TRAC T-cell receptor-alpha/beta deficiency
TRIM37 Mulibrey nanism
TRIOBP Deafness, autosomal recessive 28
TRPM6 Hypomagnesemia 1, intestinal
TSC2 Lymphangioleiomyomatosis
Tuberous sclerosis 2
TTN Cardiomyopathy, dilated, 1G
Cardiomyopathy, familial hypertrophic 9
TUBB2A Cortical dysplasia, complex, with other brain malformations 5
TUBB4A Leukodystrophy, hypomyelinating, 6
Dystonia 4, torsion, autosomal dominant
USH1C Deafness, autosomal recessive 18A
Usher syndrome, type IC
VARS2 Combined oxidative phosphorylation deficiency 20
VPS13B Cohen syndrome
WDR19 Senior-Loken syndrome 8
Retinitis pigmentosa
Nephronophthisis 13
Cranioectodermal dysplasia 4
Short-rib thoracic dysplasia 5 with or without polydactyly
WFS1 Wolfram syndrome
WT1 Frasier syndrome
Wilms tumor, type 1
Denys-Drash syndrome
YARS Charcot-Marie-Tooth disease, dominant intermediate C
ZIC2 Holoprosencephaly 5
ZMPSTE24 Restrictive dermopathy, lethal
Mandibuloacral dysplasia with type B lipodystrophy

Genes at HGMD

Summary

Number of Variants: 1862
Number of Genes: 1266

Export to: CSV

AADACL4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 12726103 4068.3 G A PASS 0/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.67 None None None None None None None

AARS2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 44272456 4255.87 C G PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

AATK

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 79094279 385.98 C T PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.06 None None None None None None None

ABCA10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 67161161 9345.42 A T PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56 0.03 None None None None None None None

ABCA3

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 2328295 751.35 C T PASS 0/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

ABCA7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 1047003 7220.97 A G PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1064194 7257.75 G A PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.84 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1056422 2889.57 G A PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.02 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1052006 24777.56 C T PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1054061 62830.57 A G PASS 1/1 151 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1049306 21667.3 C A PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.44 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1065019 5077.69 G T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.43 -1.19 None None None None None None None

ABCB8

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 7 . 150737384 284.24 G A PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 150741073 12026.59 T G PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15 0.09 None None None None None None None

ABCC1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 16173222 87529.26 A G PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None None

ABCC8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 17498317 6920.35 C T PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 17416763 953.11 A G PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.84 None None None None None None None

ABCG4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 119027609 7331.3 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.78 None None None None None None None

ABHD15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 27893329 198.19 G T PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None

ABHD8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 17403631 33773.05 G C PASS 1/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49 0.02 None None None None None None None

AC024592.12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 5867737 44832.67 G T PASS 1/1 172 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37 0.22 None None None None None None None

AC025278.1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 7012015 151.82 A G PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.10 None None None None None None None

AC079354.1

Omim - GeneCards - NCBI
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 2 . 202955552 9495.22 T C PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

AC104809.3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 2 . 241871857 4936.03 G A PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57 0.00 1.32 None None None None None None None

ACER1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 6312279 14714.28 T C PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE MISSENSE -0.09 None None None None None None None

ACER2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 19450600 14215.35 G C PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28 0.02 None None None None None None None

ACKR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 3 . 42906284 1081.81 T C PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19 0.51 None None None None None None None

ACO1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 32450045 5591.57 T C PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.45 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 32448961 16076.36 T G PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

ACOT11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 55096452 44429.04 G T PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.67 None None None None None None None

ACP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 2 rs79716074
dbSNP
277003 28443.2 A G PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26418 0.26420 0.30346 0.12 0.05 1.27 None None rs79716074 2 ACID_PHOSPHATASE_1,_SOLUBLE,_A/B_POLYMORPHISM_OF 0 None

ACSM2A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 20486757 142596.06 T G PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

ACTC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 15 . 35084632 8204.57 T G PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.95 0.17 None None None None None None None

ACTN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 14 . 69341671 993.63 C T PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14 0.63 None None None None None None None

ACTR5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 20 . 37394136 23182.82 T C PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 37384614 959.84 A G PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.79 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs772679338
dbSNP
37384620 1021.57 A G PASS 1/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.60 None None None None None None None

ACVRL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 12 . 52306316 64917.8 C A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93 0.00 None None None None None None None

ADAM15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 155034826 29629.85 C A PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 155029453 46202.71 T C PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.25 None None None None None None None

ADAMTS12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 33637786 56636.02 C A PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 0.61 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33649702 68804.11 C A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33643512 56300.11 C T PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.97 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33596138 48751.23 C T PASS 0/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.10 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33596119 55239.23 C T PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82 0.00 None None None None None None None

ADAMTS16

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 5146264 122106.14 T C PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.81 1.45 None None None None None None None

ADAMTSL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 18776842 29665.76 A C PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.29 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 18504918 40164.55 T A PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 18639302 2325.57 G A PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30 0.00 2.09 None None None None None None None

ADAMTSL3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 15 . 84657523 1694.21 G T PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47 0.03 None None None None None None None

ADCY2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 7757592 67605.05 T C,* PASS 0/2 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 7695915 24678.85 C T PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.85 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 7717283 31216.61 T C PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

ADCYAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 18 . 907674 12275.98 G A PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.31 None None None None None None None

ADIG

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 20 . 37209969 47698.13 T A PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47 0.01 None None None None None None None

ADIPOR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 202920083 14.68 G A PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.01 None None None None None None None

AGFG2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 7 . 100159989 63342.84 G A PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29 0.01 2.67 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100160513 190128.25 T G PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24 0.24 0.62 None None None None None None None

AGPS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 2 . 178285022 500.23 A G PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

AGRN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 976669 650.77 T C PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 976215 1993.63 A G PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.01 2.80 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 979560 4663.37 T C PASS 1/1 161 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 981169 1394.39 A G PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.69 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 981935 492.78 G A PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.64 None None None None None None None

AGXT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 2 . 241817000 15711.89 A G PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None

AHCY

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 20 . 32878558 797.85 C T PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.65 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32878541 613.49 C T PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.29 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32878728 2392.54 C T PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.99 6.07 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32878581 986.69 A G PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.95 None None None None None None None

AHNAK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 62299238 28.64 T G PASS 0/1 3 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 62297369 100474.75 T C PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80 None None None None None None None

AHRR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 434883 1220.17 C T PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 434906 22.39 T G PASS 0/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41 0.12 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 434866 6233.92 G C PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24 0.82 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 434886 45.01 C T PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

AL031666.2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 20 . 45947863 501.25 T C PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 None None None None None None None

AL033381.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 1102083 528.32 G A PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30 None None None None None None None

AL049840.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 14 . 104177762 2396.39 T C PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 104177810 3961.54 C T PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

AL359878.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 10 . 1018852 926.06 C T PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41 None None None None None None None

ALDH16A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 49971818 43591.2 G A PASS 0/1 269 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 49971819 43591.2 T A PASS 0/1 267 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.68 None None None None None None None

ALDH18A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 10 . 97388218 39252.32 T C PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

ALDH1B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 38396505 186342.21 G A PASS 1/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.04 -1.22 None None rs4878199 2 not_specified 1 None

ALG3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 3 . 183961744 61429.13 A G PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46 0.98 None None None None None None None

ALOX15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 4536202 13699.99 A G PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4540415 1402.53 C G PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.12 1.60 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4536220 12777.06 G T PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None

ALOX15B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 7950038 688.4 A G PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15 0.53 None None None None None None None

ALOXE3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 8020246 1922.18 T C PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None

ALPL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 21887634 81382.27 A G PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 -0.84 None None None None None None None

AMACR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 33998778 124359.02 A G PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.66 -0.66 None None rs2287939 3 not_specified 0 None

AMER3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 2 . 131521614 1234.46 A G PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 131520411 2636.51 G A PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

AMH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 2251513 969.14 T A PASS 1/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52 0.05 None None None None None None None

ANAPC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 2 . 112588935 27077.71 A C PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.96 None None None None None None None

ANGPTL4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 8438690 12134.47 A G PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.85 None None None None None None None

ANKDD1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 15 . 65204137 12926.43 T G PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.15 None None None None None None None

ANKFY1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 4076655 10016.84 G A PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

ANKH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 14751290 31542.55 C T PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None