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:
AADACL3, ABCA4, ABCB10, ABL2, AC092811.1, AC096644.1, AC119673.1, ACADM, ACP6, ACTN2, ADAM15, ADAMTS4, ADAMTSL4, ADAR, ADCK3, ADCY10, ADORA1, ADORA3, AGL, AGMAT, AGO4, AGRN, AGT, AHCTF1, AHDC1, AIDA, AIM1L, AJAP1, AK4, AK5, AKNAD1, AKR7A3, AKR7L, AL020996.1, AL161915.1, AL357673.1, AL590822.1, AL627309.1, ALDH4A1, ALDH9A1, ALG6, ALPL, AMPD2, ANKRD13C, ANKRD34A, ANKRD35, APCS, APITD1-CORT, APOA1BP, APOBEC4, ARHGAP29, ARHGAP30, ARHGEF10L, ARHGEF11, ARHGEF16, ARID4B, ARTN, ASCL5, ASH1L, ASPM, ASTN1, ATAD3B, ATAD3C, ATF6, ATP13A2, ATP1A4, ATP2B4, ATP8B2, ATPAF1, AUNIP, B3GALT6, B4GALT3, BATF3, BCAN, BCL10, BCL2L15, BCL9, BEND5, BMP8A, BMP8B, BNIPL, BRDT, BRINP2, BSND, C1ORF220, C1QA, C1orf101, C1orf105, C1orf111, C1orf116, C1orf122, C1orf123, C1orf127, C1orf131, C1orf141, C1orf147, C1orf158, C1orf167, C1orf170, C1orf172, C1orf173, C1orf174, C1orf177, C1orf195, C1orf204, C1orf213, C1orf222, C1orf227, C1orf27, C1orf35, C1orf52, C1orf53, C1orf64, C1orf65, C1orf68, C1orf86, C1orf87, C2CD4D, C4BPA, C4BPB, C8A, C8B, CA6, CACHD1, CACNA1E, CACNA1S, CADM3, CAMK1G, CAP1, CAPN2, CAPN8, CAPZB, CASP9, CASQ2, CASZ1, CATSPER4, CCDC17, CCDC18, CCDC181, CCDC27, CCDC30, CCSAP, CD101, CD1C, CD1E, CD34, CD52, CDA, CDC14A, CDC20, CDC42BPA, CDC7, CDCP2, CDK11A, CDK18, CELA2A, CELA2B, CELA3A, CELA3B, CELSR2, CENPF, CEP104, CEP170, CEP350, CFH, CFHR4, CHD1L, CHD5, CHI3L1, CHI3L2, CHIA, CLCA1, CLCA4, CLCC1, CLCN6, CLCNKA, CLCNKB, CLDN19, CNR2, CNST, CNTN2, COA6, COA7, COL11A1, COL16A1, COL24A1, COL9A2, COLGALT2, COPA, CPSF3L, CPT2, CR1, CR1L, CR2, CRB1, CRCT1, CREB3L4, CROCC, CRTC2, CRYZ, CSF1, CSMD2, CTRC, CTSE, CTSK, CTTNBP2NL, CYB5RL, CYP4A11, CYP4A22, CYP4B1, CYP4Z1, DARC, DBT, DCAF6, DCST1, DDI2, DDOST, DDR2, DDX59, DEDD, DENND1B, DENND2C, DENND4B, DFFB, DHCR24, DHRS3, DHX9, DIEXF, DISC1, DISP1, DLEU2L, DMBX1, DMRTA2, DNAH14, DNAJC11, DNAJC16, DNAJC6, DNALI1, DNM3, DNTTIP2, DOCK7, DPT, DPYD, DSTYK, DTL, DUSP10, DVL1, E2F2, ECM1, EDARADD, EDEM3, EFCAB2, EFCAB7, EFHD2, EFNA1, EFNA3, EIF2B3, EIF2D, EIF4G3, ELAVL4, ELK4, ELTD1, EMC1, ENAH, EPHA10, EPHA2, EPHA8, EPHB2, EPRS, EPS8L3, ERI3, ERO1LB, ESPN, ESRRG, ETV3, ETV3L, EVI5, EXO1, EXO5, EXOSC10, EXTL1, F13B, F3, F5, FAAH, FAM110D, FAM129A, FAM131C, FAM132A, FAM151A, FAM177B, FAM19A3, FAM212B, FAM231D, FAM46C, FAM63A, FAM71A, FAM78B, FBLIM1, FBXO42, FCAMR, FCER1A, FCGR2A, FCGR3B, FCRL1, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FGGY, FHAD1, FHL3, FLG, FLG2, FLVCR1, FMN2, FMO2, FMO3, FMO5, FMO6P, FMOD, FNDC7, FOXD2, FOXD3, FOXJ3, FOXO6, FPGT-TNNI3K, FUCA1, GABRD, GBP1, GBP2, GBP3, GBP4, GBP6, GBP7, GCSAML, GFI1, GIPC2, GJA4, GJA9, GLRX2, GLTPD1, GLUL, GNAI3, GNAT2, GNPAT, GORAB, GPATCH4, GPBP1L1, GPN2, GPR153, GPR161, GPR88, GPSM2, GPX7, GRHL3, GRIK3, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, H6PD, HAO2, HDGF, HEATR1, HECTD3, HES3, HEYL, HFM1, HHAT, HHIPL2, HIST3H3, HIVEP3, HLX, HMCN1, HMGB4, HMGCL, HNRNPCL1, HPCAL4, HRNR, HS2ST1, HSD17B7, HSD3B1, HSPA6, HSPB7, HSPG2, HTR6, HYI, IARS2, IBA57, ID3, IER5, IFI16, IGFN1, IGSF3, IKBKE, IL12RB2, IL19, IL22RA1, IL23R, ILDR2, INADL, INPP5B, INSL5, IPO13, IPP, IQCC, IQGAP3, IRF2BP2, ISG15, ITGA10, ITGB3BP, ITLN1, ITLN2, ITPKB, IVL, JAK1, JMJD4, KANK4, KCNA10, KCNAB2, KCNC4, KCNH1, KCNN3, KCNQ4, KCNT2, KCTD3, KDM4A, KDM5B, KIAA0040, KIAA1107, KIAA1324, KIAA1522, KIAA1614, KIAA2013, KIF14, KIF17, KIF1B, KIF26B, KIF2C, KIFAP3, KIRREL, KLF17, KLHDC7A, KLHDC8A, KLHDC9, KLHL12, KLHL17, KLHL21, KMO, KNCN, KPRP, L1TD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAPTM5, LAX1, LBR, LCE1C, LCE1E, LCE2D, LCE3D, LCE4A, LCE5A, LDLRAD2, LDLRAP1, LEFTY1, LEPR, LEPRE1, LGALS8, LGR6, LHX4, LHX8, LIN9, LIX1L, LMNA, LMX1A, LOR, LPHN2, LRIG2, LRP8, LRRC38, LRRC47, LRRC52, LRRC53, LRRC8B, LRRC8C, LRRIQ3, LRRN2, LUZP1, LYPLAL1, LYST, MACF1, MAEL, MAGI3, MAP10, MAP3K6, MAP7D1, MAPKAPK2, MASP2, MAST2, MATN1, MCOLN3, MDS2, MECR, MEF2D, MEGF6, METTL11B, METTL13, MFAP2, MFN2, MFSD4, MGST3, MIA3, MIB2, MIIP, MINOS1-NBL1, MKNK1, MLK4, MMACHC, MMEL1, MNDA, MOB3C, MPC2, MR1, MROH7, MROH9, MRPL37, MRPL9, MRPS15, MTF1, MTF2, MTHFR, MTMR11, MTOR, MTR, MTX1, MUC1, MUL1, MXRA8, MYBPHL, MYCL, MYOC, MYOM3, MYSM1, NADK, NASP, NAV1, NBPF1, NBPF10, NBPF12, NBPF14, NBPF15, NBPF16, NBPF20, NBPF24, NBPF3, NBPF4, NBPF9, NDUFS2, NEGR1, NEK2, NEK7, NENF, NES, NEXN, NFASC, NFIA, NFYC, NGF, NID1, NIPAL3, NIT1, NLRP3, NME7, NOC2L, NOL9, NOS1AP, NOTCH2, NOTCH2NL, NPHP4, NPHS2, NPL, NPPA, NR1I3, NR5A2, NRD1, NSL1, NSUN4, NTNG1, NTPCR, NTRK1, NUAK2, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, ODF2L, OLFM3, OLFML2B, OMA1, OPRD1, OR10J1, OR10J4, OR10J5, OR10K2, OR10R2, OR10T2, OR10X1, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L8, OR2M2, OR2M3, OR2M4, OR2M7, OR2T1, OR2T11, OR2T12, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T6, OR2T7, OR2T8, OR2W3, OR4F5, OR6F1, OR6K3, OR6N1, OR6P1, OSCP1, PADI1, PADI2, PADI3, PANK4, PAPPA2, PAQR6, PAQR7, PARP1, PBX1, PBXIP1, PCNXL2, PCSK9, PDE4B, PDE4DIP, PDIK1L, PDPN, PDZK1IP1, PEAR1, PER3, PEX10, PFKFB2, PGLYRP4, PGM1, PHC2, PHGDH, PI4KB, PIFO, PIGC, PIGK, PIK3C2B, PIK3CD, PIK3R3, PINK1, PIP5K1A, PKN2, PKP1, PLA2G2D, PLA2G4A, PLA2G5, PLCH2, PLD5, PLEKHM2, PLEKHN1, PLK3, PLOD1, PLXNA2, PM20D1, PMF1-BGLAP, PODN, POGK, POMGNT1, POU2F1, PPFIA4, PPIAL4G, PPM1J, PPOX, PPP1R15B, PPP2R5A, PPT1, PQLC2, PRAMEF1, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF22, PRAMEF26, PRAMEF4, PRAMEF6, PRCC, PRDM16, PRDM2, PRG4, PRRC2C, PRSS38, PRUNE, PSEN2, PSMB4, PSMD4, PTCH2, PTCHD2, PTGER3, PTGFRN, PTGS2, PTPN14, PTPN22, PTPN7, PTPRF, PYCR2, QSOX1, RABGAP1L, RABGGTB, RAP1GAP, RASSF5, RBBP4, RCAN3, RCC2, RERE, RFX5, RGL1, RGS16, RGSL1, RHBDL2, RHBG, RHCE, RIMKLA, RIT1, RLF, RNF186, RNF19B, RNF207, RNF223, RNPEP, ROR1, RORC, RP11-126K1.2, RP11-156E8.1, RP11-480I12.4, RPF1, RPS6KA1, RPTN, RRNAD1, RSC1A1, RSPO1, RUSC1, RWDD3, RXFP4, RXRG, RYR2, S100A5, S100A7, S100A7A, S100A7L2, SAMD11, SASS6, SCCPDH, SCNN1D, SDCCAG8, SDF4, SDHB, SEC16B, SEMA4A, SEMA6C, SEPN1, SERINC2, SERPINC1, SH2D2A, SH3D21, SHE, SHISA4, SIPA1L2, SKI, SLAMF1, SLAMF9, SLC16A1, SLC1A7, SLC22A15, SLC25A34, SLC35E2, SLC35E2B, SLC44A3, SLC44A5, SLC45A1, SLC5A9, SLC6A17, SLC6A9, SLC9A1, SLC9C2, SLFNL1, SMAP2, SMG7, SMIM1, SMPDL3B, SMYD2, SMYD3, SNAP47, SNRNP40, SNX7, SORT1, SPAG17, SPATA17, SPATA21, SPATA6, SPEN, SPOCD1, SPRR1A, SPRR1B, SPRR2A, SPRR3, SPRR4, SPRTN, SPTA1, SRGAP2, SRM, SRSF4, SSU72, SSX2IP, ST3GAL3, ST6GALNAC3, ST7L, STIL, STK40, STPG1, STRIP1, STX6, STXBP3, SYDE2, SYNC, SYT11, SYT2, SYT6, SYTL1, SZT2, TACSTD2, TAF1A, TAF5L, TAL1, TARBP1, TAS1R1, TAS1R2, TAS1R3, TATDN3, TBX15, TCEB3, TCHH, TCHHL1, TCTEX1D1, TCTEX1D4, TDRD10, TDRD5, TDRKH, TEDDM1, TEKT2, TEX35, TFB2M, TGFBR3, THAP3, THEM4, THEM5, THEMIS2, THRAP3, TIE1, TLR5, TMCC2, TMCO4, TMED5, TMEM183A, TMEM201, TMEM206, TMEM52, TMEM61, TMEM63A, TMEM81, TMEM82, TMEM88B, TMEM9, TNFRSF14, TNFRSF8, TNFRSF9, TNN, TNNT2, TNR, TOR1AIP1, TOR3A, TP53BP2, TP73, TPR, TRAF3IP3, TRIM33, TRIM58, TRIM62, TRIM63, TRMT13, TRNP1, TSACC, TSHB, TTC13, TTC22, TTC24, TTC34, TTC39A, TTC4, TTF2, TTLL10, UBE2T, UBE2U, UBQLN4, UBR4, UBXN11, URB2, USH2A, USP24, USP33, USP48, UTS2, VANGL1, VANGL2, VAV3, VCAM1, VPS13D, VWA1, VWA5B1, WDR3, WDR63, WDR64, WDR65, WDR78, WI2-3308P17.2, WLS, WNT9A, WRAP73, ZBED6, ZBTB17, ZBTB37, ZBTB40, ZBTB7B, ZBTB8A, ZBTB8OS, ZC3H11A, ZC3H12A, ZCCHC11, ZFP69B, ZMPSTE24, ZMYM1, ZMYND12, ZNF326, ZNF436, ZNF593, ZNF669, ZNF683, ZNF684, ZNF695, ZNF697, ZSCAN20, ZSWIM5, ZYG11A, ZYG11B,

Genes at Omim

ABCA4, ABL2, ACADM, ACTN2, ADAMTSL4, ADAR, ADCK3, ADCY10, AGL, AGRN, AGT, AHDC1, ALDH4A1, ALG6, ALPL, AMPD2, APCS, ASH1L, ASPM, ATF6, ATP13A2, B3GALT6, BCL10, BRDT, BSND, C1QA, C8A, C8B, CACNA1E, CACNA1S, CASQ2, CDC14A, CENPF, CEP104, CFH, CHI3L1, CLCNKA, CLCNKB, CLDN19, CNTN2, COA6, COA7, COL11A1, COL9A2, COPA, CPT2, CR1, CR2, CRB1, CTRC, CTSK, DBT, DDOST, DDR2, DDX59, DHCR24, DISC1, DNAJC6, DOCK7, DPYD, DSTYK, DVL1, ECM1, EDARADD, EIF2B3, EMC1, EPHA2, EPHB2, EPRS, ESPN, F13B, F5, FAAH, FCGR2A, FCGR3B, FLG, FLG2, FLVCR1, FMN2, FMO3, FOXD3, FUCA1, GABRD, GFI1, GLUL, GNAI3, GNAT2, GNPAT, GORAB, GPR88, GPSM2, GRHL3, H6PD, HFM1, HMCN1, HMGCL, HSPG2, IARS2, IBA57, IGSF3, IL23R, IRF2BP2, ISG15, KCNH1, KCNQ4, KCNT2, KDM5B, KIF14, KIF1B, LAMB3, LAMC2, LAMTOR2, LBR, LDLRAP1, LEPR, LHX4, LMNA, LOR, LRIG2, LRP8, LYST, MACF1, MASP2, MECR, MFN2, MMACHC, MR1, MTHFR, MTOR, MTR, MUC1, MYOC, MYSM1, NDUFS2, NEK2, NEXN, NFASC, NFIA, NGF, NLRP3, NOTCH2, NPHP4, NPPA, NTRK1, NUP133, PADI3, PBX1, PCSK9, PER3, PEX10, PGM1, PHGDH, PIGC, PIK3CD, PINK1, PKP1, PLA2G4A, PLA2G5, PLOD1, POMGNT1, PPOX, PPP1R15B, PPT1, PRCC, PRDM16, PRG4, PSEN2, PSMB4, PTCH2, PTPN14, PTPN22, PTPRF, PYCR2, RERE, RFX5, RHCE, RIT1, ROR1, RORC, RSPO1, RYR2, SASS6, SDCCAG8, SDHB, SEMA4A, SERPINC1, SKI, SLC16A1, SLC45A1, SLC6A17, SLC6A9, SLC9A1, SMIM1, SORT1, SPRTN, SPTA1, ST3GAL3, STIL, SYT2, SZT2, TACSTD2, TAL1, TBX15, TCHH, TLR5, TNNT2, TOR1AIP1, TSHB, UBE2T, USH2A, VANGL1, VANGL2, VPS13D, ZMPSTE24,
ABCA4 Fundus flavimaculatus, 248200 (3)
{Macular degeneration, age-related, 2}, 153800 (3)
Cone-rod dystrophy 3, 604116 (3)
Retinal dystrophy, early-onset severe, 248200 (3)
Retinitis pigmentosa 19, 601718 (3)
Stargardt disease 1, 248200 (3)
ABL2 Leukemia, acute myeloid, with eosinophilia (1)
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3)
Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3)
ADAMTSL4 Ectopia lentis et pupillae, 225200 (3)
Ectopia lentis, isolated, autosomal recessive, 225100 (3)
ADAR Aicardi-Goutieres syndrome 6, 615010 (3)
Dyschromatosis symmetrica hereditaria, 127400 (3)
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 (3)
ADCY10 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
AGL Glycogen storage disease IIIa, 232400 (3)
Glycogen storage disease IIIb, 232400 (3)
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
AGT {Hypertension, essential, susceptibility to}, 145500 (3)
{Preeclampsia, susceptibility to} (3)
Renal tubular dysgenesis, 267430 (3)
AHDC1 Xia-Gibbs syndrome, 615829 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
ALG6 Congenital disorder of glycosylation, type Ic, 603147 (3)
ALPL Hypophosphatasia, adult, 146300 (3)
Hypophosphatasia, childhood, 241510 (3)
Hypophosphatasia, infantile, 241500 (3)
Odontohypophosphatasia, 146300 (3)
AMPD2 Pontocerebellar hypoplasia, type 9, 615809 (3)
?Spastic paraplegia 63, 615686 (3)
APCS {?Amyloidosis, secondary, susceptibility to} (1)
ASH1L Mental retardation, autosomal dominant 52, 617796 (3)
ASPM Microcephaly 5, primary, autosomal recessive, 608716 (3)
ATF6 Achromatopsia 7, 616517 (3)
ATP13A2 Kufor-Rakeb syndrome, 606693 (3)
Spastic paraplegia 78, autosomal recessive, 617225 (3)
B3GALT6 Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3)
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3)
BCL10 {Lymphoma, follicular, somatic}, 605027 (3)
{Male germ cell tumor, somatic}, 273300 (3)
{Mesothelioma, somatic}, 156240 (3)
Lymphoma, MALT, somatic, 137245 (3)
{Sezary syndrome, somatic} (3)
?Immunodeficiency 37, 616098 (3)
BRDT ?Spermatogenic failure 21, 617644 (3)
BSND Bartter syndrome, type 4a, 602522 (3)
Sensorineural deafness with mild renal dysfunction, 602522 (3)
C1QA C1q deficiency, 613652 (3)
C8A C8 deficiency, type I, 613790 (3)
C8B C8 deficiency, type II, 613789 (3)
CACNA1E Epileptic encephalopathy, early infantile, 69, 618285 (3)
CACNA1S {Malignant hyperthermia susceptibility 5}, 601887 (3)
Hypokalemic periodic paralysis, type 1, 170400 (3)
{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CASQ2 Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
CDC14A Deafness, autosomal recessive 32, with or without immotile sperm, 608653 (3)
CENPF Stromme syndrome, 243605 (3)
CEP104 Joubert syndrome 25, 616781 (3)
CFH {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3)
Basal laminar drusen, 126700 (3)
{Macular degeneration, age-related, 4}, 610698 (3)
Complement factor H deficiency, 609814 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
CLCNKA Bartter syndrome, type 4b, digenic, 613090 (3)
CLCNKB Bartter syndrome, type 3, 607364 (3)
Bartter syndrome, type 4b, digenic, 613090 (3)
CLDN19 Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)
CNTN2 ?Epilepsy, myoclonic, familial adult, 5, 615400 (3)
COA6 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 (3)
COA7 ?Mitochondrial complex IV deficiency, 220110 (3)
COL11A1 Fibrochondrogenesis 1, 228520 (3)
{Lumbar disc herniation, susceptibility to}, 603932 (3)
Marshall syndrome, 154780 (3)
Stickler syndrome, type II, 604841 (3)
COL9A2 Epiphyseal dysplasia, multiple, 2, 600204 (3)
?Stickler syndrome, type V, 614284 (3)
COPA {Autoimmune interstitial lung, joint, and kidney disease}, 616414 (3)
CPT2 CPT II deficiency, infantile, 600649 (3)
CPT II deficiency, lethal neonatal, 608836 (3)
CPT II deficiency, myopathic, stress-induced, 255110 (3)
{Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3)
CR1 CR1 deficiency (1)
{Malaria, severe, resistance to}, 611162 (3)
[Blood group, Knops system], 607486 (3)
{?SLE susceptibility} (1)
CR2 Immunodeficiency, common variable, 7, 614699 (3)
{Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3)
CRB1 Leber congenital amaurosis 8, 613835 (3)
Pigmented paravenous chorioretinal atrophy, 172870 (3)
Retinitis pigmentosa-12, 600105 (3)
CTRC {Pancreatitis, chronic, susceptibility to}, 167800 (3)
CTSK Pycnodysostosis, 265800 (3)
DBT Maple syrup urine disease, type II, 248600 (3)
DDOST ?Congenital disorder of glycosylation, type Ir, 614507 (3)
DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
Warburg-Cinotti syndrome, 618175 (3)
DDX59 Orofaciodigital syndrome V, 174300 (3)
DHCR24 Desmosterolosis, 602398 (3)
DISC1 {Schizophrenia 9, susceptibility to}, 604906 (3)
DNAJC6 Parkinson disease 19a, juvenile-onset, 615528 (3)
Parkinson disease 19b, early-onset, 615528 (3)
DOCK7 Epileptic encephalopathy, early infantile, 23, 615859 (3)
DPYD Dihydropyrimidine dehydrogenase deficiency, 274270 (3)
5-fluorouracil toxicity, 274270 (3)
DSTYK Congenital anomalies of kidney and urinary tract 1, 610805 (3)
Spastic paraplegia 23, 270750 (3)
DVL1 Robinow syndrome, autosomal dominant 2, 616331 (3)
ECM1 Urbach-Wiethe disease, 247100 (3)
EDARADD Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3)
EIF2B3 Leukoencephalopathy with vanishing white matter, 603896 (3)
EMC1 Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
EPHB2 {Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3)
EPRS Leukodystrophy, hypomyelinating, 15, 617951 (3)
ESPN Deafness, autosomal recessive 36, 609006 (3)
Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)
F13B Factor XIIIB deficiency, 613235 (3)
F5 Factor V deficiency, 227400 (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)
Thrombophilia due to activated protein C resistance, 188055 (3)
{Budd-Chiari syndrome}, 600880 (3)
FAAH {Drug addiction, susceptibility to}, 606581 (3)
FCGR2A {Lupus nephritis, susceptibility to}, 152700 (3)
{Malaria, severe, susceptibility to}, 611162 (3)
{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
FCGR3B Neutropenia, alloimmune neonatal (3)
FLG Ichthyosis vulgaris, 146700 (3)
{Dermatitis, atopic, susceptibility to, 2}, 605803 (3)
FLG2 Peeling skin syndrome 6, 618084 (3)
FLVCR1 Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)
FMN2 Mental retardation, autosomal recessive 47, 616193 (3)
FMO3 Trimethylaminuria, 602079 (3)
FOXD3 {Autoimmune disease, susceptibility to, 1}, 607836 (3)
FUCA1 Fucosidosis, 230000 (3)
GABRD {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3)
{Epilepsy, idiopathic generalized, 10}, 613060 (3)
{Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3)
GFI1 ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3)
?Neutropenia, severe congenital 2, autosomal dominant, 613107 (3)
GLUL Glutamine deficiency, congenital, 610015 (3)
GNAI3 Auriculocondylar syndrome 1, 602483 (3)
GNAT2 Achromatopsia 4, 613856 (3)
GNPAT Rhizomelic chondrodysplasia punctata, type 2, 222765 (3)
GORAB Geroderma osteodysplasticum, 231070 (3)
GPR88 ?Chorea, childhood-onset, with psychomotor retardation, 616939 (3)
GPSM2 Chudley-McCullough syndrome, 604213 (3)
GRHL3 Van der Woude syndrome 2, 606713 (3)
H6PD Cortisone reductase deficiency 1, 604931 (3)
HFM1 Premature ovarian failure 9, 615724 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HMGCL HMG-CoA lyase deficiency, 246450 (3)
HSPG2 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3)
Schwartz-Jampel syndrome, type 1, 255800 (3)
IARS2 ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 (3)
IBA57 Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)
?Spastic paraplegia 74, autosomal recessive, 616451 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
IL23R {Inflammatory bowel disease 17, protection against}, 612261 (3)
{Psoriasis, protection against}, 605606 (3)
IRF2BP2 ?Immunodeficiency, common variable, 14, 617765 (3)
ISG15 Immunodeficiency 38, 616126 (3)
KCNH1 Temple-Baraitser syndrome, 611816 (3)
Zimmermann-Laband syndrome 1, 135500 (3)
KCNQ4 Deafness, autosomal dominant 2A, 600101 (3)
KCNT2 ?Epileptic encephalopathy, early infantile, 57, 617771 (3)
KDM5B Mental retardation, autosomal recessive 65, 618109 (3)
KIF14 Microcephaly 20, primary, autosomal recessive, 617914 (3)
?Meckel syndrome 12, 616258 (3)
KIF1B {Neuroblastoma, susceptibility to, 1}, 256700 (3)
Pheochromocytoma, 171300 (3)
?Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
LAMB3 Amelogenesis imperfecta, type IA, 104530 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
LAMC2 Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
LAMTOR2 Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3)
LBR Greenberg skeletal dysplasia, 215140 (3)
Pelger-Huet anomaly with mild skeletal anomalies, 618019 (3)
Pelger-Huet anomaly, 169400 (3)
?Reynolds syndrome, 613471 (3)
LDLRAP1 Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
LEPR Obesity, morbid, due to leptin receptor deficiency, 614963 (3)
LHX4 Pituitary hormone deficiency, combined, 4, 262700 (3)
LMNA Cardiomyopathy, dilated, 1A, 115200 (3)
Heart-hand syndrome, Slovenian type, 610140 (3)
Charcot-Marie-Tooth disease, type 2B1, 605588 (3)
Hutchinson-Gilford progeria, 176670 (3)
Lipodystrophy, familial partial, type 2, 151660 (3)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3)
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3)
Malouf syndrome, 212112 (3)
Mandibuloacral dysplasia, 248370 (3)
Muscular dystrophy, congenital, 613205 (3)
Restrictive dermopathy, lethal, 275210 (3)
LOR Vohwinkel syndrome with ichthyosis, 604117 (3)
LRIG2 Urofacial syndrome 2, 615112 (3)
LRP8 {Myocardial infarction, susceptibility to}, 608446 (3)
LYST Chediak-Higashi syndrome, 214500 (3)
MACF1 Lissencephaly 9 with complex brainstem malformation, 618325 (3)
MASP2 MASP2 deficiency, 613791 (3)
MECR Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3)
MFN2 Hereditary motor and sensory neuropathy VIA, 601152 (3)
Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3)
Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3)
MMACHC Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
MR1 Paroxysmal nonkinesigenic dyskinesia 1, 118800 (3)
MTHFR Homocystinuria due to MTHFR deficiency, 236250 (3)
{Neural tube defects, susceptibility to}, 601634 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Thromboembolism, susceptibility to}, 188050 (3)
{Vascular disease, susceptibility to} (3)
MTOR Focal cortical dysplasia, type II, somatic, 607341 (3)
Smith-Kingsmore syndrome, 616638 (3)
MTR Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MUC1 Medullary cystic kidney disease 1, 174000 (3)
MYOC Glaucoma 1A, primary open angle, 137750 (3)
MYSM1 Bone marrow failure syndrome 4, 618116 (3)
NDUFS2 Mitochondrial complex I deficiency, nuclear type 6, 618228 (3)
NEK2 ?Retinitis pigmentosa 67, 615565 (3)
NEXN Cardiomyopathy, dilated, 1CC, 613122 (3)
Cardiomyopathy, hypertrophic, 20, 613876 (3)
NFASC Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 (3)
NFIA Brain malformations with or without urinary tract defects, 613735 (3)
NGF Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)
NLRP3 Familial cold inflammatory syndrome 1, 120100 (3)
CINCA syndrome, 607115 (3)
Deafness, autosomal dominant 34, with or without inflammation, 617772 (3)
Keratoendothelitis fugax hereditaria, 148200 (3)
Muckle-Wells syndrome, 191900 (3)
NOTCH2 Alagille syndrome 2, 610205 (3)
Hajdu-Cheney syndrome, 102500 (3)
NPHP4 Nephronophthisis 4, 606966 (3)
Senior-Loken syndrome 4, 606996 (3)
NPPA Atrial fibrillation, familial, 6, 612201 (3)
Atrial standstill 2, 615745 (3)
NTRK1 Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Medullary thyroid carcinoma, familial, 155240 (3)
NUP133 ?Galloway-Mowat syndrome 8, 618349 (3)
Nephrotic syndrome, type 18, 618177 (3)
PADI3 Uncombable hair syndrome, 191480 (3)
PBX1 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 (3)
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
Hypercholesterolemia, familial, 3, 603776 (3)
PER3 ?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PEX10 Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3)
Peroxisome biogenesis disorder 6B, 614871 (3)
PGM1 Congenital disorder of glycosylation, type It, 614921 (3)
PHGDH Neu-Laxova syndrome 1, 256520 (3)
Phosphoglycerate dehydrogenase deficiency, 601815 (3)
PIGC Glycosylphosphatidylinositol biosynthesis defect 16, 617816 (3)
PIK3CD Immunodeficiency 14, 615513 (3)
PINK1 Parkinson disease 6, early onset, 605909 (3)
PKP1 Ectodermal dysplasia/skin fragility syndrome, 604536 (3)
PLA2G4A Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 (3)
PLA2G5 [Fleck retina, familial benign], 228980 (3)
PLOD1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (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)
PPOX Porphyria variegata, 176200 (3)
PPP1R15B Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3)
PPT1 Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
PRCC Renal cell carcinoma, papillary, 605074 (3)
PRDM16 Cardiomyopathy, dilated, 1LL, 615373 (3)
Left ventricular noncompaction 8, 615373 (3)
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
PSEN2 Alzheimer disease-4, 606889 (3)
Cardiomyopathy, dilated, 1V, 613697 (3)
PSMB4 ?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, 617591 (3)
PTCH2 Basal cell carcinoma, somatic, 605462 (3)
Basal cell nevus syndrome, 109400 (3)
Medulloblastoma, somatic, 155255 (3)
PTPN14 Choanal atresia and lymphedema, 613611 (3)
PTPN22 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
{Systemic lupus erythematosus susceptibility to}, 152700 (3)
{Diabetes, type 1, susceptibility to}, 222100 (3)
PTPRF ?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3)
PYCR2 Leukodystrophy, hypomyelinating, 10, 616420 (3)
RERE Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 (3)
RFX5 Bare lymphocyte syndrome, type II, complementation group C, 209920 (3)
Bare lymphocyte syndrome, type II, complementation group E, 209920 (3)
RHCE Rh-null disease, amorph type, 617970 (3)
[Blood group, Rhesus] (3)
RIT1 Noonan syndrome 8, 615355 (3)
ROR1 ?Deafness, autosomal recessive 108, 617654 (3)
RORC Immunodeficiency 42, 616622 (3)
RSPO1 Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3)
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3)
RYR2 Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
SASS6 ?Microcephaly 14, primary, autosomal recessive, 616402 (3)
SDCCAG8 Bardet-Biedl syndrome 16, 615993 (3)
Senior-Loken syndrome 7, 613615 (3)
SDHB Gastrointestinal stromal tumor, 606764 (3)
Paraganglioma and gastric stromal sarcoma, 606864 (3)
Paragangliomas 4, 115310 (3)
Pheochromocytoma, 171300 (3)
SEMA4A Cone-rod dystrophy 10, 610283 (3)
Retinitis pigmentosa 35, 610282 (3)
SERPINC1 Thrombophilia due to antithrombin III deficiency, 613118 (3)
SKI Shprintzen-Goldberg syndrome, 182212 (3)
SLC16A1 Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3)
Erythrocyte lactate transporter defect, 245340 (3)
Monocarboxylate transporter 1 deficiency, 616095 (3)
SLC45A1 Intellectual developmental disorder with neuropsychiatric features, 617532 (3)
SLC6A17 Mental retardation, autosomal recessive 48, 616269 (3)
SLC6A9 Glycine encephalopathy with normal serum glycine, 617301 (3)
SLC9A1 ?Lichtenstein-Knorr syndrome, 616291 (3)
SMIM1 [Blood group, Vel system], 615264 (3)
SORT1 [Low density lipoprotein cholesterol level QTL6], 613589 (3)
SPRTN Ruijs-Aalfs syndrome, 616200 (3)
SPTA1 Elliptocytosis-2, 130600 (3)
Pyropoikilocytosis, 266140 (3)
Spherocytosis, type 3, 270970 (3)
ST3GAL3 ?Epileptic encephalopathy, early infantile, 15, 615006 (3)
Mental retardation, autosomal recessive 12, 611090 (3)
STIL Microcephaly 7, primary, autosomal recessive, 612703 (3)
SYT2 Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3)
SZT2 Epileptic encephalopathy, early infantile, 18, 615476 (3)
TACSTD2 Corneal dystrophy, gelatinous drop-like, 204870 (3)
TAL1 Leukemia, T-cell acute lymphocytic, somatic, 613065 (3)
TBX15 Cousin syndrome, 260660 (3)
TCHH ?Uncombable hair syndrome 3, 617252 (3)
TLR5 {Legionnaire disease, susceptibility to}, 608556 (3)
{Melioidosis, susceptibility to}, 615557 (3)
{Systemic lupus erythematosus, resistance to}, 601744 (3)
{Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3)
TNNT2 Cardiomyopathy, dilated, 1D, 601494 (3)
Cardiomyopathy, familial restrictive, 3, 612422 (3)
Cardiomyopathy, hypertrophic, 2, 115195 (3)
Left ventricular noncompaction 6, 601494 (3)
TOR1AIP1 ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 (3)
TSHB Hypothyroidism, congenital, nongoitrous 4, 275100 (3)
UBE2T Fanconi anemia, complementation group T, 616435 (3)
USH2A Retinitis pigmentosa 39, 613809 (3)
Usher syndrome, type 2A, 276901 (3)
VANGL1 Caudal regression syndrome, 600145 (3)
{Neural tube defects, susceptibility to}, 182940 (3)
VANGL2 Neural tube defects, 182940 (3)
VPS13D Spinocerebellar ataxia, autosomal recessive 4, 607317 (3)
ZMPSTE24 Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3)
Restrictive dermopathy, lethal, 275210 (3)

Genes at Clinical Genomics Database

ABCA4, ACADM, ACTN2, ADAMTSL4, ADAR, ADCK3, AGL, AGRN, AGT, AHDC1, ALDH4A1, ALG6, ALPL, AMPD2, ASPM, ATF6, ATP13A2, B3GALT6, BCL10, BSND, C1QA, C8A, C8B, CACNA1S, CASQ2, CENPF, CFH, CFHR4, CLCNKA, CLCNKB, CLDN19, CNTN2, COA6, COL11A1, COL9A2, COPA, CPT2, CR1, CR2, CRB1, CTSK, DBT, DDOST, DDR2, DDX59, DHCR24, DNAJC6, DOCK7, DPYD, DSTYK, DVL1, ECM1, EDARADD, EIF2B3, EMC1, EPHA2, ESPN, F13B, F5, FLG, FLVCR1, FMN2, FMO3, FUCA1, GFI1, GLUL, GNAI3, GNAT2, GNPAT, GORAB, GPR88, GPSM2, GRHL3, H6PD, HFM1, HMCN1, HMGCL, HSPG2, IARS2, IBA57, IGSF3, ISG15, KCNH1, KCNQ4, KIF14, KIF1B, LAMB3, LAMC2, LAMTOR2, LBR, LDLRAP1, LEPR, LHX4, LMNA, LOR, LRIG2, LYST, MAP3K6, MASP2, MFN2, MMACHC, MR1, MTHFR, MTOR, MTR, MUC1, MYOC, NDUFS2, NEK2, NEXN, NGF, NLRP3, NOTCH2, NPHP4, NPHS2, NPPA, NTRK1, PCSK9, PER3, PEX10, PGM1, PHGDH, PIK3CD, PINK1, PKP1, PLA2G4A, PLA2G5, PLOD1, POMGNT1, PPOX, PPP1R15B, PPT1, PRDM16, PRG4, PSEN2, PTCH2, PTPN14, PTPRF, PYCR2, RFX5, RHCE, RIT1, RORC, RSPO1, RYR2, SASS6, SDCCAG8, SDHB, SEMA4A, SEPN1, SERPINC1, SKI, SLC16A1, SLC6A17, SLC9A1, SMIM1, SPTA1, ST3GAL3, STIL, SYT2, SZT2, TACSTD2, TBX15, TNNT2, TSHB, UBE2T, USH2A, VANGL1, VANGL2, ZMPSTE24,
ABCA4 Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 1
Retinal dystrophy, early-onset severe
Fundus flavimaculatus
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of
ACTN2 Cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction
Cardiomyopathy, hypertrophic 23, with or without left ventricular noncompaction
ADAMTSL4 Ectopia lentis, isolated, autosomal recessive
ADAR Dyschromatosis symmetrica hereditaria
Aicardi-Goutieres syndrome 6
ADCK3 Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
AGL Glycogen storage disease III
AGRN Myasthenic syndrome, congenital 8
AGT Renal tubular dysgenesis
AHDC1 Mental retardation, autosomal dominant 25 (Xia-Gibbs syndrome)
ALDH4A1 Hyperprolinemia, type II
ALG6 Congenital disorder of glycosylation, type Ic
ALPL Hypophosphatasia, infantile
Odontohypophosphatasia
AMPD2 Pontocerebellar hypoplasia type 9
Spastic paraplegia 63
ASPM Microcephaly, primary autosomal recessive, 5
ATF6 Achromatopsia 7
ATP13A2 Parkinson disease 9 (Kufor-Rakeb syndrome)
Ceroid lipofuscinosis, neuronal, 12
B3GALT6 Ehlers-Danlos syndrome, progeroid type, 2
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
BCL10 Immunodeficiency 37
BSND Bartter syndrome, type 4A
Sensorineural deafness with mild renal dysfunction
C1QA C1q deficiency
C8A Complement component 8 deficiency, type I
C8B Complement component 8 deficiency, type II
CACNA1S Malignant hyperthermia susceptibility 5
Thyrotoxic period paralysis, susceptibility 1
Hypokalemic periodic paralysis, type 1
CASQ2 Ventricular tachycardia, catecholaminergic, polymorphic, 2
CENPF Ciliary dyskinesia, primary 31 (Stromme syndrome)
CFH Hemolytic uremic syndrome, atypical
Complement factor H deficiency
CFHR4 Hemolytic-uremic syndrome, atypical, susceptibility to
CLCNKA Bartter syndrome, type 4, digenic
CLCNKB Bartter syndrome, type 4, digenic
Bartter syndrome, type 3
CLDN19 Hypomagnesemia 5, renal, with ocular involvement
CNTN2 Epilepsy, familial adult myoclonic 5
COA6 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
COL11A1 Stickler syndrome, type II
Fibrochondrogenesis
Marshall syndrome
COL9A2 Stickler syndrome, Type V
COPA Autoimmune interstitial lung, joint, and kidney disease
CPT2 Carnitine palmitoyltransferase II deficiency
CR1 Blood group, Knops system
CR2 Common variable immune deficiency, 7
CRB1 Leber congenital amaurosis 8
Retinitis pigmentosa 12, autosomal recessive
Pigmented paravenous chorioretinal atrophy
CTSK Pycnodysostosis
DBT Maple syrup urine disease, type II
DDOST Congenital disorder of glycosylation, type Ir
DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type
DDX59 Orofaciodigital syndrome V
DHCR24 Desmosterolosis
DNAJC6 Juvenile Parkinsonism, autosomal recessive
DOCK7 Epilepitic encephalopathy, early infantile, 23
DPYD 5-fluorouracil toxicity
DSTYK Congenital anomalies of the kidney and urinary tract 1
DVL1 Robinow syndrome, autosomal dominant 2
ECM1 Lipoid proteinosis
EDARADD Ectodermal dysplasia, anhidrotic, autosomal dominant
Ectodermal dysplasia, anhidrotic, autosomal recessive
Ectodermal dysplasia, hypohidrotic, autosomal dominant
Ectodermal dysplasia, hypohidrotic, autosomal recessive
EIF2B3 Leukoencephalopathy with vanishing white matter
Ovarioleukodystrophy
EMC1 Cerebellar atrophy, visual impairment, and psychomotor retardation
EPHA2 Cataract 6, multiple types
ESPN Deafness, autosomal dominant, without vestibular involvement
Deafness, autosomal recessive 36
F13B Factor XIIIB deficiency
F5 Thrombophilia due to activated protein C resistance
Factor V deficiency
FLG Icthyosis vulgaris
FLVCR1 Ataxia, posterior column, with retinitis pigmentosa
FMN2 Mental retardation, autosomal recessive, 47
FMO3 Trimethylaminuria
FUCA1 Fucosidosis
GFI1 Neutropenia, severe congenital, 2 autosomal dominant
Neutropenia, nonimmune chronic idiopathic, of adults
GLUL Glutamine deficiency, congenital
GNAI3 Auriculocondylar syndrome 1
GNAT2 Achromatopsia 4
GNPAT Rhizomelic chondrodysplasia punctata, rhizomelic, type 2
GORAB Geroderma osteodysplasticum
GPR88 Chorea, childhood-onset, with psychomotor retardation
GPSM2 Chudley-McCullough syndrome
Deafness, autosomal recessive 82
GRHL3 van der Woude syndrome 2
H6PD Cortisone reductase deficiency
HFM1 Premature ovarian failure 9
HMCN1 Macular degeneration, age-related, 1
HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HSPG2 Schwartz-Jampel syndrome, type 1
IARS2 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS)
IBA57 Multiple mitochondrial dysfunctions syndrome 3
Spastic paraplegia 74, autosomal recessive
IGSF3 Lacrimal duct defect
ISG15 Immunodeficiency 38, with basal ganglia calcification
KCNH1 Temple-Baraitser syndrome
Zimmermann-Laband syndrome 1
KCNQ4 Deafness, autosomal dominant 2A
KIF14 Meckel syndrome 12
KIF1B Neuroblastoma, susceptibility to
Pheochromocytoma
LAMB3 Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, junctional, Herlitz type
Amelogenesis imperfecta, type IA
LAMC2 Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, junctional, Herlitz type
LAMTOR2 Immunodeficiency due to defect in MAPBP-interacting protein
LBR Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Reynolds syndrome
Pelger-Huet anomaly
Greenberg/HEM skeletal dysplasia
LDLRAP1 Hypercholesterolemia, familial, autosomal recessive
LEPR Leptin receptor deficiency
LHX4 Pituitary hormone deficiency, combined, 4
LMNA Cardiomyopathy, dilated, 1A
Heart-hand syndrome, Slovenian type
Emery-Dreiffus muscular dystrophy, autosomal dominant
Emery-Dreiffus muscular dystrophy 3, autosomal recessive
Muscular dystrophy, congenital, LMNA-related
Limb-girdle muscular dystrophy type 1B
Malouf syndrome
Lipodystrophy, familial partial, 2 (Dunnigan type)
LOR Vohwinkel syndrome, variant form
LRIG2 Urofacial syndrome 2
LYST Chediak-Higashi syndrome
MAP3K6 Familial gastric cancer
MASP2 MASP2 deficiency
MFN2 Charcot-Marie-Tooth disease, type 2A2
Hereditary motor and sensory neuropathy VIA
MMACHC Methylmalonic aciduria and homocystinuria, cblC type
MR1 Paroxysmal nonkinesigenic dyskinesia
MTHFR Homocystinuria due to MTHFR deficiency
MTOR Smith-Kingsmore syndrome
MTR Methylmalonic acidemia, cblG type
MUC1 Medullary cystic kidney disease 1
MYOC Glaucoma, primary open angle
NDUFS2 Mitochondrial complex I deficiency
NEK2 Retinitis pigmentosa 67
NEXN Cardiomyopathy, familial hypertrophic, 20
Cardiomyopathy, dilated, 1CC
NGF Neuropathy, hereditary sensory and autonomic, type V
NLRP3 Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome
Neonatal Onset Multisystem Inflammatory Disease (NOMID)
Muckle-Wells syndrome
NOTCH2 Alagille syndrome 2
NPHP4 Nephronophthisis 4
Senior-Loken syndrome 4
NPHS2 Nephrotic syndrome, type 2
NPPA Atrial fibrillation, familial, 6
Atrial standstill 2
NTRK1 Insensitivity to pain, congenital, with anhidrosis
PCSK9 Hypercholesterolemia, familial, 3
PER3 Advanced sleep phase syndrome, familial, 3
PEX10 Peroxisome biogenesis disorder 6B
Peroxisome biogenesis factor disorder 10
Adrenoleukodystrophy, neonatal
Zellweger syndrome
Ataxia, autosomal recessive
PGM1 Congenital disorder of glycosylation, type It
PHGDH Phosphoglycerate dehydrogenase deficiency
PIK3CD Immunodeficiency 14
PINK1 Parkinson disease 6, autosomal recessive, early onset
PKP1 Ectodermal dysplasia/skin fragility syndrome
PLA2G4A Phospholipase A2, group IV A, deficiency of
PLA2G5 Fleck retina, familial benign
PLOD1 Ehlers-Danlos syndrome type VI
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
PPOX Porphyria variegata
PPP1R15B Microcephaly, short stature, and impaired glucose metabolism 2
PPT1 Ceroid lipofuscinosis, neuronal, 1
PRDM16 Cardiomyopathy, dilated, ILL
Left ventricular noncompaction 8
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
PSEN2 Cardiomyopathy, dilated, 1V
Peripartum/pregnancy-associated cardiomyopathy
PTCH2 Basal cell nevus syndrome
PTPN14 Choanal atresia and lymphedema
PTPRF Breasts and/or nipples, aplasia or hypoplasia of, 2
PYCR2 Leukodystrophy, hypomyelinating 10
RFX5 Bare lymphocyte syndrome, type II
RHCE Rhesus blood group
RIT1 Noonan syndrome 8
RORC Immunodeficiency 42
RSPO1 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal
RYR2 Ventricular tachycardia, catecholaminergic polymorphic, 1
Arrhythmogenic right ventricular dysplasia 2
SASS6 Microcephaly 14, primary, autosomal recessive
SDCCAG8 Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
SDHB Pheochromocytoma
Gastrointestinal stromal tumor
Cowden-like syndrome
Paraganglioma and gastric stromal sarcoma
Paragangliomas 4
SEMA4A Cone-rod dystrophy 10
Retinitis pigmentosa 35
SEPN1 Muscular dystrophy, rigid spine, 1
Myopathy, congenital, with fiber-type disproportion
SERPINC1 Antithrombin III deficiency
SKI Shprintzen-Goldberg syndrome
SLC16A1 Hyperinsulinemic hypoglycemia, familial, 7
Erythrocyte lactate transporter defect
Monocarboxylate transporter 1 deficiency (AR)
SLC6A17 Mental retardation, autosomal recessive 48
SLC9A1 Spinocerebellar ataxia, autosomal recessive 19 (Lichtenstein-Knorr syndrome)
SMIM1 Blood group, Vel system
SPTA1 Spherocytosis, type 3
Pyropoikilocytosis , hereditary
Ellipsocytosis 2
ST3GAL3 Mental retardation, autosomal recessive 12
Epileptic encephalopathy, early infantile, 15
STIL Microcephaly, primary autosomal recessive, 7
SYT2 Myasthenic syndrome, congenital 7
SZT2 Epileptic encephalopathy, early infantile, 18
TACSTD2 Corneal dystrophy, gelatinous drop-like
TBX15 Cousin syndrome
TNNT2 Cardiomyopathy, familial restrictive, 3
Cardiomyopathy, dilated, 1D
Left ventricular noncompaction 6
Cardiomyopathy, familial hypertrophic, 2
TSHB Hypothyroidism, congenital, nongoitrous, 4
UBE2T Fanconi anemia, complementation group T
USH2A Usher syndrome, type 2A
VANGL1 Caudal regression syndrome
Neural tube defects
VANGL2 Neural tube defects
ZMPSTE24 Mandibuloacral dysplasia with type B lipodystrophy
Restrictive dermopathy, lethal

Genes at HGMD

Summary

Number of Variants: 15574
Number of Genes: 993

Export to: CSV
  • Page 1 of 156

AADACL3

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 combined sample_72.variant33 1 rs3000859
dbSNP Clinvar
12776344 2228.74 A T PASS 0/1 234 START_GAINED LOW None 0.65655 0.65650 0.27373 1.00 0.00 None None None None None None AADACL3|0.001467435|92.94%
View combined sample_72.variant33 1 rs3010876
dbSNP Clinvar
12779560 6294.04 T C PASS 0/1 144 SYNONYMOUS_CODING LOW None 0.84944 0.84940 0.14324 None None None None None None AADACL3|0.001467435|92.94%
View combined sample_72.variant33 1 rs3010877
dbSNP Clinvar
12779618 3901.77 T C PASS 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.84804 0.84800 0.14252 1.00 0.00 None None None None None None AADACL3|0.001467435|92.94%
View combined sample_72.variant33 1 rs7513079
dbSNP Clinvar
12785494 5028.71 G T PASS 0/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.68231 0.68230 0.33289 0.26 1.00 None None None None None None AADACL3|0.001467435|92.94%

ABCA4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_72.variant33 1 rs2275029
dbSNP Clinvar
94473845 1963.3 T C PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.16713 0.16710 0.19968 None None None None None None ABCA4|0.440503373|18.63%
View combined sample_72.variant33 1 rs3112831
dbSNP Clinvar
94544234 1390.66 T C PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.22085 0.22080 0.26065 0.63 0.00 None None None None None None ABCA4|0.440503373|18.63%
View combined sample_72.variant33 1 rs1762114
dbSNP Clinvar
94471075 4479.85 A G PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.76997 0.77000 0.22428 None None None None None None ABCA4|0.440503373|18.63%
View combined sample_72.variant33 1 rs4847281
dbSNP Clinvar
94578548 1516.64 T C PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.98702 0.98700 0.01230 None None None None None None ABCA4|0.440503373|18.63%
View combined sample_72.variant33 1 rs1801555
dbSNP Clinvar
94466659 864.81 A G PASS 0/1 43 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.30112 0.30110 0.29886 None None None None None None ABCA4|0.440503373|18.63%
View combined sample_72.variant33 1 rs4147857
dbSNP Clinvar
94474328 2160.6 T C PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.18750 0.18750 0.20691 None None None None None None ABCA4|0.440503373|18.63%
View combined sample_72.variant33 1 rs1801574
dbSNP Clinvar
94476388 1175.14 C G PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.20068 0.20070 0.24927 None None None None None None ABCA4|0.440503373|18.63%

ABCB10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_72.variant33 1 rs3738187
dbSNP Clinvar
229683264 587.09 G A PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.30252 0.30250 0.32178 None None None None None None ABCB10|0.028326577|70.29%

ABL2

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 combined sample_72.variant33 1 rs2274230
dbSNP Clinvar
179084080 3136.43 T G PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.04433 0.04433 0.06974 None None None None None None ABL2|0.343693287|24.57%

AC092811.1

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 combined sample_72.variant33 1 rs3766928
dbSNP Clinvar
225601647 1401.32 C T PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.58087 0.58090 None None None None None None LBR|0.282370632|28.92%

AC096644.1

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 combined sample_72.variant33 1 rs1361256
dbSNP Clinvar
220607685 1654.53 G A PASS 1/1 74 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81010 0.81010 None None None None None None None
View combined sample_72.variant33 1 rs10553491,rs67066512
dbSNP Clinvar
220603310 948.83 TGTGA T PASS 0/1 25 FRAME_SHIFT HIGH None None None None None None None None

AC119673.1

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 combined sample_72.variant33 1 rs148123511,rs374402548
dbSNP Clinvar
205683591 8705.11 TAC T PASS 0/1 231 FRAME_SHIFT HIGH None 0.00080 0.03974 None None None None None None NUCKS1|0.578718378|12.65%
View combined sample_72.variant33 1 . 205683626 5649.89 G GA PASS 0/1 209 FRAME_SHIFT HIGH None 0.04373 None None None None None None NUCKS1|0.578718378|12.65%

ACADM

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 combined sample_72.variant33 1 rs1061337
dbSNP Clinvar
76227022 1253.93 A G PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.17432 0.17430 0.24996 None None None None None None ACADM|0.275510572|29.48%
View combined sample_72.variant33 1 rs3818855
dbSNP Clinvar
76198785 1387.49 G A PASS 1/1 143 SYNONYMOUS_CODING LOW None 0.23103 0.23100 0.31932 None None None None None None ACADM|0.275510572|29.48%
View combined sample_72.variant33 1 rs1146593
dbSNP Clinvar
76234886 1056.39 A G PASS 1/1 39 None None None 0.88459 0.88460 0.84 0.00 None None None None None None ACADM|0.275510572|29.48%

ACP6

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 combined sample_72.variant33 1 rs1344
dbSNP Clinvar
147119273 2984.52 G A PASS 1/1 104 SYNONYMOUS_CODING LOW None 0.47923 0.47920 0.46886 None None None None None None ACP6|0.053267553|61.72%
View combined sample_72.variant33 1 rs6593795
dbSNP Clinvar
147121977 2546.5 C T PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.98443 0.98440 0.01453 0.13 0.15 None None None None None None ACP6|0.053267553|61.72%
View combined sample_72.variant33 1 rs2153463
dbSNP Clinvar
147124310 1895.41 T G PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.27434 None None None None None None ACP6|0.053267553|61.72%

ACTN2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_72.variant33 1 rs1341863
dbSNP Clinvar
236883421 3599.44 C T PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.92073 0.92070 0.06228 None None None None None None ACTN2|0.55570405|13.49%
View combined sample_72.variant33 1 rs1341864
dbSNP Clinvar
236882303 1280.54 T C PASS 1/1 95 SYNONYMOUS_CODING LOW None 0.99261 0.99260 0.00777 None None None None None None ACTN2|0.55570405|13.49%
View combined sample_72.variant33 1 rs12063382
dbSNP Clinvar
236925844 2136.61 G A PASS 0/1 220 SYNONYMOUS_CODING LOW None 0.19609 0.19610 0.15570 None None None None None None ACTN2|0.55570405|13.49%

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 combined sample_72.variant33 1 rs6427128
dbSNP Clinvar
155026942 1449.58 A C PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.90196 0.90200 0.12771 0.51 0.00 None None None None None None ADAM15|0.077192579|55.85%
View combined sample_72.variant33 1 rs11264303
dbSNP Clinvar
155030557 3883.48 A C PASS 0/1 443 SYNONYMOUS_CODING LOW None 0.32448 0.32450 0.48931 None None None None None None ADAM15|0.077192579|55.85%
View combined sample_72.variant33 1 rs41264285
dbSNP Clinvar
155033918 808.6 C T PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.13319 0.13320 0.20937 0.13 0.84 None None None None None None ADAM15|0.077192579|55.85%

ADAMTS4

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 combined sample_72.variant33 1 rs4233367
dbSNP Clinvar
161163037 1040.6 T C PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.70687 0.70690 0.39720 1.00 0.00 None None None None None None ADAMTS4|0.218094914|34.6%
View combined sample_72.variant33 1 rs41270041
dbSNP Clinvar
161161284 1788.86 G C PASS 0/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.09964 0.09964 0.09465 0.23 0.00 None None None None None None ADAMTS4|0.218094914|34.6%

ADAMTSL4

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 combined sample_72.variant33 1 rs10888382
dbSNP Clinvar
150531008 2370.84 T C PASS 1/1 186 SYNONYMOUS_CODING LOW None 0.81450 0.81450 0.13248 None None None None None None ADAMTSL4|0.034322056|67.68%
View combined sample_72.variant33 1 rs10749657
dbSNP Clinvar
150531050 3150.1 G A PASS 1/1 212 SYNONYMOUS_CODING LOW None 0.87840 0.87840 0.15647 None None None None None None ADAMTSL4|0.034322056|67.68%
View combined sample_72.variant33 1 rs10749658
dbSNP Clinvar
150531170 6137.71 C T PASS 1/1 251 None None None 0.92153 0.92150 0.08404 None None None None None None ADAMTSL4|0.034322056|67.68%

ADAR

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 combined sample_72.variant33 1 rs1127309
dbSNP Clinvar
154561925 1131.29 C T PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.28095 0.28100 0.29802 None None None None None None ADAR|0.149816666|43.06%
View combined sample_72.variant33 1 rs1466731
dbSNP Clinvar
154574820 2977.94 T C PASS 1/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.99621 0.99620 0.00431 0.28 0.00 None None None None None None ADAR|0.149816666|43.06%
View combined sample_72.variant33 1 rs6426859
dbSNP Clinvar
154600372 3432.51 A G PASS 1/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.98163 0.98160 0.01674 0.00 None None None None None None ADAR|0.149816666|43.06%
View combined sample_72.variant33 1 rs2229857
dbSNP Clinvar
154573967 5124.46 T C PASS 0/1 167 NON_SYNONYMOUS_CODING MODERATE None 0.62260 0.62260 0.39213 0.67 0.00 None None None None None None ADAR|0.149816666|43.06%
View combined sample_72.variant33 1 rs1802645
dbSNP Clinvar
154575040 3231.03 C T PASS 1/1 127 SYNONYMOUS_CODING LOW None 0.99701 0.99700 0.00285 None None None None None None ADAR|0.149816666|43.06%

ADCK3

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 combined sample_72.variant33 1 rs3738725
dbSNP Clinvar
227174210 537.19 T C PASS 0/1 142 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31390 0.31390 0.44218 None None None None None None ADCK3|0.102470418|50.69%
View combined sample_72.variant33 1 rs12593
dbSNP Clinvar
227172290 1821.35 C T PASS 0/1 225 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.23862 0.23860 0.37367 None None None None None None ADCK3|0.102470418|50.69%
View combined sample_72.variant33 1 rs11549708
dbSNP Clinvar
227149203 1564.61 G A PASS 0/1 194 SYNONYMOUS_CODING LOW None 0.08067 0.08067 0.17687 None None None None None None ADCK3|0.102470418|50.69%

ADCY10

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 combined sample_72.variant33 1 rs2071921
dbSNP Clinvar
167825485 3035.54 T C PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.50459 0.50460 0.42042 0.11 0.00 None None None None None None ADCY10|0.02878338|70.03%
View combined sample_72.variant33 1 rs2071922
dbSNP Clinvar
167825606 1854.4 A G PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.20827 0.20830 0.10618 None None None None None None ADCY10|0.02878338|70.03%
View combined sample_72.variant33 1 rs67878347
dbSNP Clinvar
167839578 415.95 G A PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.12560 0.12560 0.16116 None None None None None None ADCY10|0.02878338|70.03%
View combined sample_72.variant33 1 rs203795
dbSNP Clinvar
167817639 3206.75 A G PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.82209 0.82210 0.22674 None None None None None None ADCY10|0.02878338|70.03%
View combined sample_72.variant33 1 rs203849
dbSNP Clinvar
167849414 1225.66 A G PASS 0/1 106 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49321 0.49320 0.46570 None None None None None None ADCY10|0.02878338|70.03%

ADORA1

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 combined sample_72.variant33 1 rs2228079
dbSNP Clinvar
203098275 2038.36 T G PASS 1/1 188 SYNONYMOUS_CODING LOW None 0.23363 0.23360 0.26349 None None None None None None ADORA1|0.36730339|22.93%

ADORA3

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 combined sample_72.variant33 1 rs2229155
dbSNP Clinvar
112042632 1593.61 A G PASS 1/1 127 None None None 0.77356 0.77360 0.20998 None None None None None None ADORA3|0.017319131|75.65%

AGL

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 combined sample_72.variant33 1 rs2230306
dbSNP Clinvar
100336361 1972.52 C T PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.76258 0.76260 0.23289 None None None None None None AGL|0.644094308|10.32%

AGMAT

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 combined sample_72.variant33 1 rs41270261
dbSNP Clinvar
15905501 1636.08 G A PASS 0/1 165 SYNONYMOUS_CODING LOW None 0.09225 0.09225 0.12402 None None None None None None DNAJC16|0.148396459|43.23%,AGMAT|0.096094359|51.91%
View combined sample_72.variant33 1 rs11580170
dbSNP Clinvar
15909744 1274.89 C T PASS 1/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.27236 0.27240 0.34146 0.60 0.01 None None None None None None DNAJC16|0.148396459|43.23%,AGMAT|0.096094359|51.91%
View combined sample_72.variant33 1 rs6429757
dbSNP Clinvar
15909850 2429.36 C G PASS 1/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.63319 0.63320 0.34615 1.00 0.00 None None None None None None DNAJC16|0.148396459|43.23%,AGMAT|0.096094359|51.91%
View combined sample_72.variant33 1 rs11544523
dbSNP Clinvar
15904318 1441.51 C T PASS 1/1 133 SYNONYMOUS_CODING LOW None 0.23742 0.23740 0.29325 None None None None None None DNAJC16|0.148396459|43.23%,AGMAT|0.096094359|51.91%

AGO4

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 combined sample_72.variant33 1 rs4652895
dbSNP Clinvar
36316571 3902.99 A C PASS 1/1 161 SYNONYMOUS_CODING LOW None 0.49101 0.49100 0.34253 None None None None None None AGO4|0.5439177|14.04%

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 combined sample_72.variant33 1 rs115173026
dbSNP Clinvar
955597 235.36 G T PASS 1/1 31 SYNONYMOUS_CODING LOW None 0.28255 0.28250 None None None None None None AGRN|0.026450221|71.13%
View combined sample_72.variant33 1 rs113288277
dbSNP Clinvar
979748 2845.95 A T PASS 0/1 198 NON_SYNONYMOUS_CODING MODERATE None 0.01837 0.01837 0.03107 0.01 0.93 -1.43 0.07 0.69566 D None None None None AGRN|0.026450221|71.13%
View combined sample_72.variant33 1 rs2465128
dbSNP Clinvar
981931 3749.51 A G PASS 1/1 125 SYNONYMOUS_CODING LOW None 0.79772 0.79770 0.21978 None None None None None None AGRN|0.026450221|71.13%
View combined sample_72.variant33 1 rs10267
dbSNP Clinvar
982994 7388.93 T C PASS 1/1 313 SYNONYMOUS_CODING LOW None 0.83586 0.83590 0.20883 None None None None None None AGRN|0.026450221|71.13%
View combined sample_72.variant33 1 rs9442391
dbSNP Clinvar
984302 572.85 T C PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.54573 0.54570 0.45863 None None None None None None AGRN|0.026450221|71.13%
View combined sample_72.variant33 1 rs4275402
dbSNP Clinvar
990280 868.79 C T PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.58526 0.58530 0.42085 None None None None None None AGRN|0.026450221|71.13%

AGT

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 combined sample_72.variant33 1 rs7080
dbSNP Clinvar
230841687 1895.07 T C PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.97264 0.97260 0.05913 None None None None None None AGT|0.061155796|59.54%

AHCTF1

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 combined sample_72.variant33 1 rs41304151
dbSNP Clinvar
247024326 1595.45 G A PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.01278 0.01278 0.02953 0.24 0.00 None None None None None None AHCTF1|0.093190661|52.56%

AHDC1

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 combined sample_72.variant33 1 rs61742782
dbSNP Clinvar
27873845 2342.63 G A PASS 0/1 211 SYNONYMOUS_CODING LOW None 0.00220 0.00220 0.00461 None None None None None None AHDC1|0.445284553|18.42%
View combined sample_72.variant33 1 rs4908364
dbSNP Clinvar
27875824 8603.46 C T PASS 1/1 304 NON_SYNONYMOUS_CODING MODERATE None 0.99800 0.99800 0.00508 1.00 0.00 None None None None None None AHDC1|0.445284553|18.42%
View combined sample_72.variant33 1 rs2076457
dbSNP Clinvar
27876482 2158.5 C A PASS 0/1 189 SYNONYMOUS_CODING LOW None 0.79293 0.79290 0.28311 None None None None None None AHDC1|0.445284553|18.42%

AIDA

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 combined sample_72.variant33 1 rs3811465
dbSNP Clinvar
222886119 10601.2 A G PASS 1/1 356 START_GAINED LOW None 0.75719 0.75720 0.06 0.00 None None None None None None AIDA|0.542532951|14.12%,BROX|0.22306489|34.05%

AIM1L

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 combined sample_72.variant33 1 rs10751735
dbSNP Clinvar
26663362 1806.38 C T PASS 0/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.45587 0.45590 0.43907 0.38 0.01 None None None None None None AIM1L|0.109158012|49.38%
View combined sample_72.variant33 1 rs11247919
dbSNP Clinvar
26664968 1004.89 C T PASS 0/1 102 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.28614 0.28610 0.42081 None None None None None None AIM1L|0.109158012|49.38%
View combined sample_72.variant33 1 rs375817247
dbSNP Clinvar
26671872 801.87 C T PASS 0/1 83 None None None 0.00008 0.54 0.10 None None None None None None AIM1L|0.109158012|49.38%
View combined sample_72.variant33 1 rs368774557
dbSNP Clinvar
26672082 1890.33 C T PASS 0/1 189 None None None 0.00008 0.31 0.01 None None None None None None AIM1L|0.109158012|49.38%

AJAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_72.variant33 1 rs1061968
dbSNP Clinvar
4772053 2461.02 T C PASS 0/1 194 SYNONYMOUS_CODING LOW None 0.52676 0.52680 0.41109 None None None None None None AJAP1|0.079694333|55.25%

AK4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_72.variant33 1 rs17853973
dbSNP Clinvar
65614154 1357.89 T A PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.21685 0.21690 0.12364 1.00 0.01 None None None None None None AK4|0.08011651|55.14%
View combined sample_72.variant33 1 rs4915685
dbSNP Clinvar
65690461 343.43 G A PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.37001 0.37000 0.24450 None None None None None None AK4|0.08011651|55.14%

AK5

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 combined sample_72.variant33 1 rs1167206
dbSNP Clinvar
77763542 2505.3 G A PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.97883 0.97880 0.01607 None None None None None None AK5|0.166834889|40.71%
View combined sample_72.variant33 1 rs79671213
dbSNP Clinvar
78024345 3973.66 C CTAT PASS 0/1 63 CODON_INSERTION MODERATE None 0.61961 0.61960 0.35982 None None None None None None AK5|0.166834889|40.71%

AKNAD1

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 combined sample_72.variant33 1 rs1277207
dbSNP Clinvar
109395105 1533.14 C T PASS 1/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.86701 0.86700 0.16677 0.61 0.00 None None None None None None AKNAD1|0.003173142|88.35%
View combined sample_72.variant33 1 rs17563390
dbSNP Clinvar
109394978 1108.67 G A PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.12500 0.12500 0.14624 None None None None None None AKNAD1|0.003173142|88.35%
View combined sample_72.variant33 1 rs61797355
dbSNP Clinvar
109365781 1844.74 C T PASS 0/1 151 None None None 0.02376 0.02376 None None None None None None AKNAD1|0.003173142|88.35%
View combined sample_72.variant33 1 rs7551421
dbSNP Clinvar
109369915 986.6 G T PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.50320 0.50320 0.38504 1.00 0.00 None None None None None None AKNAD1|0.003173142|88.35%
View combined sample_72.variant33 1 rs7522157
dbSNP Clinvar
109366286 3947.68 C T PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.16574 0.16570 0.24450 1.00 0.00 None None None None None None AKNAD1|0.003173142|88.35%
View combined sample_72.variant33 1 rs11580913
dbSNP Clinvar
109391662 2164.27 G C PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.06210 0.06210 0.10318 0.24 0.15 None None None None None None AKNAD1|0.003173142|88.35%

AKR7A3

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 combined sample_72.variant33 1 rs1738025
dbSNP Clinvar
19609254 1834.13 T C PASS 1/1 222 NON_SYNONYMOUS_CODING MODERATE None 0.83147 0.83150 0.20268 1.00 0.00 None None None None None None AKR7A3|0.013654573|78.1%
View combined sample_72.variant33 1 rs1065658
dbSNP Clinvar
19611227 340.65 G A PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.14677 0.14680 0.16587 None None None None None None AKR7A3|0.013654573|78.1%
View combined sample_72.variant33 1 rs1738023
dbSNP Clinvar
19611241 692.34 T C PASS 1/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.80771 0.80770 0.22634 1.00 0.00 None None None None None None AKR7A3|0.013654573|78.1%
View combined sample_72.variant33 1 rs2231198
dbSNP Clinvar
19612477 1458.74 C T PASS 0/1 329 NON_SYNONYMOUS_CODING MODERATE None 0.46326 0.46330 0.36344 0.07 0.04 None None None None None None AKR7A3|0.013654573|78.1%

AKR7L

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 combined sample_72.variant33 1 rs6665756
dbSNP Clinvar
19596156 2367.83 G T PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.66594 0.66590 0.40539 None None None None None None AKR7L|0.018209366|75.16%
View combined sample_72.variant33 1 rs2235795
dbSNP Clinvar
19595137 1477.02 C T PASS 1/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.66514 0.66510 0.41166 0.03 None None None None None None AKR7L|0.018209366|75.16%
View combined sample_72.variant33 1 rs2235794
dbSNP Clinvar
19596124 1509.39 C T PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.66494 0.66490 0.40605 0.00 0.89 None None None None None None AKR7L|0.018209366|75.16%

AL020996.1

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 combined sample_72.variant33 1 rs984412
dbSNP Clinvar
26146884 4132.53 C G PASS 1/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.79253 0.79250 0.00 None None None None None None MTFR1L|0.316651874|26.32%

AL161915.1

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 combined sample_72.variant33 1 rs6699560
dbSNP Clinvar
54570262 595.23 T C PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.00619 0.00619 0.02 0.89 None None None None None None TCEANC2|0.284265534|28.78%

AL357673.1

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 combined sample_72.variant33 1 rs10493175
dbSNP Clinvar
54636977 441.25 T C PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.11761 0.11760 None None None None None None None

AL590822.1

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 combined sample_72.variant33 1 rs262695
dbSNP Clinvar
2144788 4672.92 A G PASS 1/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.35943 0.35940 0.00 None None None None None None None
View combined sample_72.variant33 1 rs2480714
dbSNP Clinvar
2144982 3444.13 G T PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.88319 0.88320 0.00 None None None None None None None

AL627309.1

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 combined sample_72.variant33 1 rs373847457
dbSNP Clinvar
139233 758.87 C A DRAGENHardSNP 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.00 None None None None None None None
View combined sample_72.variant33 1 rs375595668
dbSNP Clinvar
138593 33.74 G T DRAGENHardSNP 0/1 10 SYNONYMOUS_CODING LOW None 0.04513 0.04513 None None None None None None None
View combined sample_72.variant33 1 rs370723703
dbSNP Clinvar
139213 725.1 A G DRAGENHardSNP 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.38 0.00 None None None None None None None

ALDH4A1

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 combined sample_72.variant33 1 rs2230708
dbSNP Clinvar
19201956 2312.56 A G PASS 1/1 123 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%
View combined sample_72.variant33 1 rs2230706
dbSNP Clinvar
19202926 1942.93 T C PASS 1/1 66 SYNONYMOUS_CODING LOW None 0.66014 0.66010 0.37865 None None None None None None ALDH4A1|0.121498662|47.22%
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