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
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Genes:
AARS2, ABCA7, ABCC1, ABCC3, ABHD15, ABHD17A, ABHD8, AC024592.12, AC104809.3, AC126614.1, ACAP1, ACKR2, ACOT11, ACOT4, ACSBG2, ACSM2A, ACSM2B, ACSM5, ACTN2, ACTR5, ADAMTS12, ADAMTS16, ADAMTSL1, ADAMTSL5, ADIPOR1, AGRN, AGXT2, AHCY, AHNAK, AHRR, AL359878.1, ALDH18A1, ALDH1A3, ALDH1B1, ALOX15, ALPL, AMACR, AMER3, AMH, ANAPC1, ANAPC15, ANGPTL4, ANK1, ANKRD12, ANKRD13A, ANKRD16, ANKRD17, ANKRD24, ANKRD30B, ANKRD33B, ANKRD55, ANKRD65, ANKRD9, AOX1, AP001631.10, AP2A1, AP3D1, AP4E1, APC2, APEH, APOA1BP, AQP3, AQP7, ARC, ARFIP2, ARHGAP1, ARHGAP28, ARHGEF11, ARID1A, ARID3A, ARL4D, ASB11, ASIC1, ASPDH, ASS1, ATAD3C, ATP11A, ATP13A1, ATP1B2, ATP2B4, ATP2C2, ATP6V1B1, ATP8B3, BACE1, BAI1, BASP1, BCL10, BNIPL, BRD1, BRSK2, BSN, BTN2A2, C11orf16, C11orf35, C12orf4, C12orf56, C16orf3, C16orf96, C16orf98, C17orf64, C19orf24, C1GALT1C1, C1orf167, C2, C2CD2L, C2CD4C, C2CD4D, C2orf44, C2orf71, C3, C3orf33, C4A, C5orf34, C5orf49, C6, C6orf47, C7, C7orf72, C9orf131, C9orf72, CA5B, CACNA1F, CACTIN, CADPS, CAMK2B, CAMSAP3, CAP2, CAPN3, CASC5, CBWD1, CCDC102A, CCDC107, CCDC135, CCDC136, CCDC171, CCDC176, CCDC19, CCDC37, CCDC78, CCDC82, CCDC88A, CCDC88B, CCDC88C, CCL24, CCNL2, CCS, CCT5, CD70, CDC42EP2, CDCA2, CDCP2, CDH12, CDH7, CDHR5, CDYL, CELSR3, CEP192, CEP350, CER1, CHD8, CHRD, CHRM1, CHRNB2, CIRBP, CISH, CIT, CKAP5, CKM, CLDN16, CLDN6, CLEC16A, CLTCL1, CNGB1, CNN2, CNTLN, COCH, COL11A2, COL20A1, COL4A3BP, COL5A3, COL6A5, COLEC12, COLGALT1, COMP, COPS7A, COPS8, CPAMD8, CRABP2, CRYAA, CSRP2BP, CTNNAL1, CTR9, CUBN, CWH43, CYP21A2, CYP2C18, CYP2W1, DAB2, DAGLA, DAP, DAXX, DBH, DCAF5, DDA1, DDX25, DEFA1, DGKA, DHX34, DHX40, DLG1, DNAH1, DNAH11, DNAH5, DNAH9, DNAJC1, DOCK3, DOCK8, DOT1L, DPCR1, DPEP1, DPY19L3, DRAXIN, DSCAM, DSP, DUSP3, EAPP, EARS2, ECE1, EEF1A2, EFCAB11, EFCAB12, EFCAB5, EFCAB6, EIF3B, EIF4G1, EMC10, ENTHD1, ENTPD3, EP400, EPB41L3, EPN3, EPPK1, EPS15L1, EPS8L1, ERF, ETV4, EXOC3L4, EXOSC2, EYA2, F5, FAM110C, FAM151A, FAM160B1, FAM187A, FAM200B, FAM205A, FAM214B, FAM215A, FAM217A, FAM65B, FAM83H, FAM8A1, FASN, FASTKD3, FBN3, FBXO10, FBXO36, FBXW10, FCGBP, FCHSD2, FERMT1, FGD2, FGF22, FGFR3, FGR, FIS1, FLII, FLNA, FLNC, FN1, FNBP1, FOXD4, FOXK1, FSIP1, FSIP2, FUK, FUT5, FUT6, FUZ, FYCO1, GADD45B, GAGE10, GALC, GALNT15, GALR3, GARNL3, GCNT2, GFI1B, GFOD1, GFY, GGA2, GGN, GJA9, GK, GLIS3, GMDS, GNMT, GOLGA2, GOLGA6L19, GPLD1, GPR108, GPR113, GPR115, GPR128, GPR161, GPR162, GPRC5A, GPSM2, GPX8, GRAMD1A, GRHL3, GRHPR, GRIN2D, GRIN3B, GRM5, GSE1, GTF3C5, GUF1, GZMM, HAGHL, HAPLN2, HAUS7, HAUS8, HCAR1, HCN2, HEATR1, HEATR6, HEG1, HENMT1, HEYL, HIP1R, HIST1H1C, HIST1H2AB, HIST1H2AD, HIST1H2BA, HIST1H3C, HIST1H4C, HMCN1, HMHA1, HNF1B, HOXA13, HSD17B8, HSP90AB1, HUS1B, HUWE1, IER3, IFFO2, IFITM1, IFITM2, IFITM3, IFNAR1, IFNK, IGKV3D-15, IKZF4, ILVBL, INF2, INPP4A, INSC, INSL4, INSR, INSRR, IQCC, IQGAP3, IRAK2, IREB2, IRF2BP1, IRF7, IRGQ, IRX1, ITGAE, ITIH1, ITIH3, ITPR3, IZUMO3, JAK2, JAK3, JARID2, JSRP1, JUND, JUP, KANK1, KAT8, KCNC3, KCNH3, KCNQ2, KDM1A, KDM1B, KDM8, KHSRP, KIAA0319, KIAA0430, KIAA0947, KIAA1161, KIAA2026, KIF13A, KIF18B, KIF22, KIFC3, KIR2DS4, KISS1R, KIT, KLHDC2, KLHL22, KLK2, KLRB1, KRT13, KRT15, KRT2, KRT84, KRTAP10-12, LAMA2, LAMA3, LAMB2, LAP3, LARS2, LDHD, LDLR, LDLRAD4, LEF1, LEO1, LEPRE1, LEPREL2, LGI4, LILRB2, LILRB3, LILRB5, LINGO4, LLGL1, LMBRD2, LMOD1, LPCAT1, LPCAT2, LPPR3, LRIF1, LRP1, LRP4, LRRC14B, LRRC56, LRRC71, LRRC9, LRRIQ3, LRTOMT, LTBP4, MAD2L2, MADCAM1, MAFA, MAGEB2, MAGEC3, MAP1B, MAP2K2, MAP2K3, MAP3K5, MAP4K4, MAP4K5, MARCH11, MARCH6, MARK4, MAZ, MBD3L2, MCAM, MCM7, MED10, MED26, MEI1, MELK, MEMO1, METRN, METTL14, METTL4, METTL6, MGA, MIDN, MIEF2, MINK1, MLYCD, MMP17, MMP3, MPND, MPP1, MRFAP1, MROH7, MRPL55, MRPS34, MRS2, MS4A1, MS4A14, MS4A4A, MSH5, MTRR, MUC12, MUC2, MUC5AC, MUC6, MUM1, MVB12B, MYBPC2, MYBPC3, MYH1, MYH10, MYO10, MYO7A, MYOM1, MYOM2, N4BP2L2, NAA40, NADK2, NAGPA, NARFL, NAT10, NBAS, NCAN, NCAPD2, NCLN, NCOR1, NDC80, NDRG4, NDUFA4L2, NDUFB10, NDUFV2, NEB, NEDD9, NELFCD, NELL2, NFASC, NFAT5, NFKB2, NID1, NIN, NISCH, NKD2, NLRP12, NLRP2, NLRP3, NLRP6, NME8, NOP56, NOTCH4, NPIPB15, NQO1, NR1I3, NR4A1, NRBP1, NRP2, NSUN2, NUB1, NUP133, NUP153, NXPH4, ODF2, OMG, OR1C1, OR1F1, OR2H2, OR2S2, OR4F17, OR51B4, OR52I2, OR6C6, OR6J1, OR6K2, OR7D4, OR8H3, ORMDL2, OSMR, PABPC1L2A, PACS1, PAF1, PAIP1, PAK6, PALMD, PAN2, PAX2, PAX5, PBX2, PC, PCDH12, PCDHGC3, PCNXL2, PDCD1LG2, PDE4A, PDE6C, PDGFRA, PDZD2, PEG3, PELI3, PEX5, PGM2, PGM2L1, PHACTR1, PHKG2, PHLDB3, PHRF1, PHYH, PIAS4, PIEZO2, PIK3AP1, PIWIL1, PIWIL2, PKD1, PKD1L1, PKD1L2, PKN3, PKP3, PLA2G4E, PLB1, PLCD4, PLCXD3, PLD2, PLEKHG4B, PLEKHH3, PLEKHM2, PLIN3, PLIN4, PLIN5, PLK5, PLOD3, PLXNA3, POGZ, POLE, POLR1E, POLR2A, POLR2E, POLRMT, POMT1, POMT2, POTEC, POTEM, POU2F3, POU5F1, PPAP2C, PPIP5K1, PPP1R12B, PPP1R12C, PPP1R3G, PPRC1, PRCC, PRDM1, PRDM9, PRICKLE3, PROM1, PRPF3, PRPF4B, PRPF6, PRPSAP1, PRPSAP2, PRSS12, PRSS3, PRSS57, PRUNE, PSG9, PSMC3, PSME4, PSMG4, PTBP3, PTH1R, PTPN12, PTPN23, PTPN7, PTPRD, PTPRM, PTPRR, PTPRS, PTTG1IP, PVR, PYROXD2, PZP, RAB1B, RAD54L2, RANBP1, RANBP3L, RAPGEF3, RASGRF1, RBM15B, REXO1, REXO1L1P, RFPL4AL1, RFX7, RHPN1, RICTOR, RIMBP3, RIMKLB, RIMS1, RIN1, RINT1, RIOK1, RIPK1, RNF168, RNF212, ROBO4, ROPN1L, RP11-113D6.10, RP11-1396O13.13, RP11-145E5.5, RP11-683L23.1, RP11-998D10.1, RPA1, RPAP1, RPL9, RPP40, RPTOR, RREB1, RSL1D1, RSPH6A, RTEL1-TNFRSF6B, RUNDC3B, RUNX1T1, SBF2, SBP1, SCAF1, SCGB1A1, SCGN, SCN1B, SCN3A, SDHA, SDIM1, SECISBP2L, SEH1L, SEMA6B, SEPT11, SERPINB6, SERPINE1, SETD2, SF3B3, SFRP4, SFSWAP, SFXN4, SGCG, SH2D6, SH3BP2, SH3TC1, SHB, SHCBP1, SHMT2, SIGIRR, SIN3B, SIPA1, SIRT6, SLC11A1, SLC12A3, SLC12A7, SLC16A14, SLC1A1, SLC22A13, SLC22A18AS, SLC24A2, SLC25A23, SLC27A1, SLC2A5, SLC34A2, SLC35B2, SLC39A14, SLC39A7, SLC41A1, SLC45A2, SLC5A10, SLC6A18, SLC6A19, SLC6A6, SLC9A3, SLCO2A1, SMCHD1, SMCO2, SMTNL1, SMTNL2, SNRNP200, SNX33, SOBP, SOGA2, SORD, SOWAHB, SPATA13, SPATA31A1, SPEF1, SPEF2, SPOCK2, SRCAP, SRD5A1, SSFA2, STAB1, STAB2, STAP2, STK36, SULT1A2, SUN1, SURF1, SYCP2, SYCP2L, SYNE2, SYNGAP1, SYVN1, TAF3, TAF5, TAF6, TAGLN3, TAPBP, TAS1R2, TAS2R13, TBC1D31, TBXA2R, TCF12, TCF19, TCF25, TCF3, TCHP, TDP2, TEK, TENC1, TEX15, TEX28P1, THEG, THOC1, TIMM10B, TJP3, TLR10, TLR6, TLR7, TMC4, TMEM129, TMEM200C, TMEM220, TMEM239, TMEM30B, TMEM57, TMEM63C, TMEM80, TMPRSS3, TMPRSS9, TNFAIP8L2, TNFRSF6B, TNFSF14, TNPO2, TNXB, TOMM5, TOPORS, TPD52L3, TPMT, TPPP2, TPR, TRAPPC11, TRAPPC5, TRAT1, TRDJ1, TRERF1, TRIM29, TRIM3, TRIM37, TRIM6, TRIM66, TRIO, TRMT6, TRPV2, TSPAN4, TSR3, TTLL3, TTLL7, TTN, TUBB4A, TUBGCP3, TULP2, TULP3, TUSC1, TUT1, TXNDC2, TYRO3, UBA2, UBAP2, UBE2G2, UBE2I, UBN1, UBQLN4, UBR2, UBR5, UNC79, USH1C, USP47, USP6, UVRAG, VARS2, VCP, VN1R2, VPS18, VPS39, VWA1, VWA3A, VWA5A, VWA8, WARS2, WDR13, WDR18, WDR5, WDR60, WDR81, WFS1, WHSC1L1, WIZ, WNT3A, WRNIP1, XRCC3, YES1, ZBED4, ZBTB12, ZBTB14, ZBTB34, ZBTB5, ZC3H3, ZC3H7B, ZCCHC3, ZDHHC12, ZER1, ZFP1, ZFPM1, ZFR, ZFYVE1, ZIC2, ZMAT4, ZMYM2, ZNF106, ZNF160, ZNF304, ZNF318, ZNF331, ZNF343, ZNF473, ZNF518B, ZNF519, ZNF525, ZNF530, ZNF541, ZNF555, ZNF587B, ZNF589, ZNF597, ZNF599, ZNF613, ZNF665, ZNF701, ZNF77, ZNF823,

Genes at Omim

AARS2, ABCA7, ACTN2, AGRN, AHCY, ALDH18A1, ALDH1A3, ALPL, AMACR, AMH, ANGPTL4, ANK1, AP3D1, AP4E1, AQP3, AQP7, ARID1A, ASS1, BCL10, C1GALT1C1, C2, C2orf71, C3, C4A, C6, C7, C9orf72, CACNA1F, CAPN3, CASC5, CCDC78, CCDC88A, CCDC88C, CCT5, CHD8, CHRNB2, CISH, CIT, CLDN16, CNGB1, COCH, COL11A2, COL4A3BP, COMP, CRYAA, CUBN, CYP21A2, DBH, DNAH11, DNAH5, DOCK8, DSP, EARS2, ECE1, EEF1A2, EIF4G1, ERF, F5, FAM65B, FAM83H, FGFR3, FLNA, FLNC, FN1, FUT6, FUZ, FYCO1, GALC, GCNT2, GFI1B, GK, GLIS3, GNMT, GPSM2, GRHL3, GRHPR, GUF1, HMCN1, HNF1B, HOXA13, HUWE1, IFITM3, INF2, INSR, IRF7, ITPR3, JAK2, JAK3, JUP, KANK1, KCNC3, KCNQ2, KDM1A, KIAA0319, KIF22, KISS1R, KIT, KRT13, KRT2, LAMA2, LAMA3, LAMB2, LARS2, LDLR, LEF1, LRP4, LRTOMT, LTBP4, MAP2K2, MLYCD, MMP3, MS4A1, MTRR, MYBPC3, MYO7A, NADK2, NBAS, NDUFV2, NEB, NFKB2, NIN, NLRP12, NLRP3, NME8, NOP56, NQO1, NSUN2, OSMR, PACS1, PAX2, PAX5, PC, PDE6C, PDGFRA, PEX5, PHKG2, PHYH, PIEZO2, PKD1, PLOD3, POGZ, POMT1, POMT2, PRCC, PROM1, PRPF3, PRPF6, PRSS12, PTPN12, RIMS1, RNF168, RNF212, SBF2, SCN1B, SDHA, SERPINB6, SETD2, SFRP4, SFXN4, SGCG, SH3BP2, SLC12A3, SLC1A1, SLC34A2, SLC39A14, SLC45A2, SLC6A19, SLC9A3, SLCO2A1, SMCHD1, SNRNP200, SOBP, SORD, SRCAP, SURF1, SYNE2, SYNGAP1, TAF6, TAPBP, TBXA2R, TCF12, TCF3, TDP2, TEK, TMPRSS3, TNXB, TOPORS, TPMT, TRAPPC11, TRIM37, TRIO, TTN, TUBB4A, USH1C, VARS2, VCP, WDR60, WDR81, WFS1, WHSC1L1, XRCC3, ZIC2,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3)
Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3)
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (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)
ALDH1A3 Microphthalmia, isolated 8, 615113 (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)
ANK1 Spherocytosis, type 1, 182900 (3)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (3)
AP4E1 Spastic paraplegia 51, autosomal recessive, 613744 (3)
Stuttering, familial persistent, 1, 184450 (3)
AQP3 [Blood group GIL], 607457 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ARID1A Coffin-Siris syndrome 2, 614607 (3)
ASS1 Citrullinemia, 215700 (3)
BCL10 ?Immunodeficiency 37, 616098 (3)
Lymphoma, MALT, somatic, 137245 (3)
{Lymphoma, follicular, somatic}, 605027 (3)
{Male germ cell tumor, somatic}, 273300, (3)
{Mesothelioma, somatic}, 156240 (3)
{Sezary syndrome, somatic}, (3)
C1GALT1C1 Tn polyagglutination syndrome, somatic, 300622 (3)
C2 C2 deficiency, 217000 (3)
{Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)
C2orf71 Retinitis pigmentosa 54, 613428 (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)
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)
CAPN3 Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
CASC5 Microcephaly 4, primary, autosomal recessive, 604321 (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)
CHD8 {Autism, susceptibility to, 18}, 615032 (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)
CLDN16 Hypomagnesemia 3, renal, 248250 (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)
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)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
DBH Dopamine beta-hydroxylase deficiency, 223360 (3)
[Dopamine-beta-hydroxylase activity levels, plasma] (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)
EARS2 Combined oxidative phosphorylation deficiency 12, 614924 (3)
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
{Hypertension, essential, susceptibility to}, 145500 (3)
EEF1A2 Epileptic encephalopathy, early infantile, 33, 616409 (3)
Mental retardation, autosomal dominant 38, 616393 (3)
EIF4G1 {Parkinson disease 18}, 614251 (3)
ERF Craniosynostosis 4, 600775 (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)
FAM65B ?Deafness, autosomal recessive 104, 616515 (3)
FAM83H Amelogenesis imperfecta, type III, 130900 (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)
FN1 Glomerulopathy with fibronectin deposits 2, 601894 (3)
Plasma fibronectin deficiency, 614101 (1)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
FUZ Neural tube defects, 182940 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
GALC Krabbe disease, 245200 (3)
GCNT2 Adult i phenotype without cataract, 110800 (3)
Cataract 13 with adult i phenotype, 116700 (3)
[Blood group, Ii], 110800 (3)
GFI1B Bleeding disorder, platelet-type, 17, 187900 (3)
GK Glycerol kinase deficiency, 307030 (3)
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
GNMT Glycine N-methyltransferase deficiency, 606664 (3)
GPSM2 Chudley-McCullough syndrome, 604213 (3)
GRHL3 Van der Woude syndrome 2, 606713 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HNF1B Diabetes mellitus, noninsulin-dependent, 125853 (3)
Renal cysts and diabetes syndrome, 137920 (3)
{Renal cell carcinoma}, 144700 (3)
HOXA13 Guttmacher syndrome, 176305 (3)
Hand-foot-uterus syndrome, 140000 (3)
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 (3)
IFITM3 {Influenza, severe, susceptibility to}, 614680 (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)
IRF7 ?Immunodeficiency 39, 616345 (3)
ITPR3 {Diabetes, type 1, susceptibility to}, 222100 (2)
JAK2 Erythrocytosis, somatic, 133100 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600800 (3)
JAK3 SCID, autosomal recessive, T-negative/B-positive type, 600802 (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)
KCNQ2 Epileptic encephalopathy, early infantile, 7, 613720 (3)
Myokymia, 121200 (3)
Seizures, benign neonatal, 1, 121200 (3)
KDM1A Cleft palate, psychomotor retardation, and distinctive facial features, 616728 (3)
KIAA0319 {Dyslexia, susceptibility to, 2}, 600202 (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)
KIT Gastrointestinal stromal tumor, familial, 606764 (3)
Germ cell tumors, 273300 (3)
Leukemia, acute myeloid, 601626 (3)
Mast cell disease, 154800 (3)
Piebaldism, 172800 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT2 Ichthyosis bullosa of Siemens, 146800 (3)
LAMA2 Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
LAMA3 Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Laryngoonychocutaneous syndrome, 245660 (3)
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)
Pierson syndrome, 609049 (3)
LARS2 ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)
Perrault syndrome 4, 615300 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LEF1 Sebaceous tumors, somatic (3)
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)
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 (3)
MLYCD Malonyl-CoA decarboxylase deficiency, 248360 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MS4A1 Immunodeficiency, common variable, 5, 613495 (3)
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYBPC3 Cardiomyopathy, dilated, 1MM, 615396 (3)
Cardiomyopathy, hypertrophic, 4, 115197 (3)
Left ventricular noncompaction 10, 615396 (3)
MYO7A Deafness, autosomal dominant 11, 601317 (3)
Deafness, autosomal recessive 2, 600060 (3)
Usher syndrome, type 1B, 276900 (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)
NDUFV2 Mitochondrial complex I deficiency, 252010 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (3)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NIN ?Seckel syndrome 7, 614851 (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)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (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)
PACS1 Schuss-Hoeijmakers sydnrome, 615009 (3)
PAX2 Glomerulosclerosis, focal segmental, 7, 616002 (3)
Papillorenal syndrome, 120330 (3)
PAX5 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
PC Pyruvate carboxylase deficiency, 266150 (3)
PDE6C Cone dystrophy 4, 613093 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PEX5 Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3)
Peroxisome biogenesis disorder 2B, 202370 (3)
Rhizomelic chondrodysplasia punctata, type 5, 616716 (3)
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)
PKD1 Polycystic kidney disease, adult type I, 173900 (3)
PLOD3 Lysyl hydroxylase 3 deficiency, 612394 (3)
POGZ White-Sutton syndrome, 616364 (3)
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PRCC Renal cell carcinoma, papillary, 605074 (3)
PROM1 Cone-rod dystrophy 12, 612657 (3)
Macular dystrophy, retinal, 2, 608051 (3)
Retinitis pigmentosa 41, 612095 (3)
Stargardt disease 4, 603786 (3)
PRPF3 Retinitis pigmentosa 18, 601414 (3)
PRPF6 Retinitis pigmentosa 60, 613983 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
PTPN12 Colon cancer, somatic, 114500 (3)
RIMS1 Cone-rod dystrophy 7, 603649 (3)
RNF168 RIDDLE syndrome, 611943 (3)
RNF212 Recombination rate QTL 1, 612042 (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)
SETD2 Luscan-Lumish syndrome, 616831 (3)
SFRP4 Pyle disease, 265900 (3)
SFXN4 Combined oxidative phosphorylation deficiency 18, 615578 (3)
SGCG Muscular dystrophy, limb-girdle, type 2C, 253700 (3)
SH3BP2 Cherubism, 118400 (3)
SLC12A3 Gitelman syndrome, 263800 (3)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC39A14 Hypermanganesemia with dystonia 2, 617013 (3)
SLC45A2 Albinism, oculocutaneous, type IV, 606574 (3)
[Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
SLC6A19 Hartnup disorder, 234500 (3)
Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (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)
SORD ?Cataract, congenital (2)
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)
TAF6 Alazami-Yuan syndrome, 617126 (3)
TAPBP Bare lymphocyte syndrome, type I, 604571 (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)
TMPRSS3 Deafness, autosomal recessive 8/10, 601072 (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)
TRAPPC11 Muscular dystrophy, limb-girdle, type 2S, 615356 (3)
TRIM37 Mulibrey nanism, 253250 (3)
TRIO Mental retardation, autosomal dominant 44, 617061 (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)
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)
VCP Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3)
Charcot-Marie-Tooth disease, type 2Y, 616687 (3)
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3)
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (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)
XRCC3 {Breast cancer, susceptibility to}, 114480 (3)
{Melanoma, cutaneous malignant, 6}, 613972 (3)
ZIC2 Holoprosencephaly 5, 609637 (3)

Genes at Clinical Genomics Database

AARS2, ACTN2, AGRN, AHCY, ALDH18A1, ALDH1A3, ALPL, AMACR, AMH, ANK1, AP4E1, AQP3, ARID1A, ASS1, ATP6V1B1, BCL10, C2, C3, C4A, C6, C7, CACNA1F, CAPN3, CCDC88C, CCT5, CHD8, CHRNB2, CLDN16, CNGB1, COCH, COL11A2, COL4A3BP, COMP, CRYAA, CUBN, CYP21A2, DBH, DNAH1, DNAH11, DNAH5, DOCK8, DSP, EARS2, ECE1, EEF1A2, EIF4G1, ERF, F5, FAM65B, FAM83H, FERMT1, FGFR3, FLNA, FLNC, FN1, FUT6, FUZ, FYCO1, GALC, GCNT2, GFI1B, GK, GLIS3, GNMT, GPSM2, GRHL3, GRHPR, HMCN1, HNF1B, HOXA13, HUWE1, INF2, INSR, IRF7, JAK2, JAK3, JUP, KANK1, KCNC3, KCNQ2, KDM1A, KIF22, KISS1R, KIT, KRT13, KRT2, LAMA2, LAMA3, LAMB2, LARS2, LDLR, LRP1, LRP4, LRTOMT, LTBP4, MAP2K2, MLYCD, MS4A1, MTRR, MYBPC3, MYO7A, NADK2, NBAS, NDUFV2, NEB, NFKB2, NIN, NLRP12, NLRP3, NME8, NOP56, OSMR, PACS1, PAX2, PAX5, PC, PDE6C, PDGFRA, PEX5, PHKG2, PHYH, PIEZO2, PKD1, PLOD3, POGZ, POLE, POMT1, POMT2, PROM1, PRPF3, PRPF6, PRSS12, PTH1R, RIMS1, RNF168, SBF2, SCN1B, SDHA, SERPINB6, SERPINE1, SETD2, SFXN4, SGCG, SH3BP2, SLC12A3, SLC1A1, SLC34A2, SLC41A1, SLC45A2, SLC6A19, SLCO2A1, SMCHD1, SNRNP200, SOBP, SRCAP, SURF1, SYNE2, SYNGAP1, TAPBP, TBXA2R, TCF12, TCF3, TDP2, TEK, TMPRSS3, TNXB, TOPORS, TPMT, TRAPPC11, TRIM37, TTN, TUBB4A, USH1C, VARS2, VCP, VPS39, WDR60, WDR81, WFS1, ZIC2,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
ACTN2 Cardiomyopathy, hypertrophic 23, with or without left ventricular noncompaction
Cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction
AGRN Myasthenic syndrome, congenital 8
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
ALDH1A3 Microphthalmia, isolated 8
ALPL Odontohypophosphatasia
Hypophosphatasia, infantile
AMACR Alpha-methylacyl-CoA racemase deficiency
Bile acid synthesis defect, congenital, 4
AMH Persistent Mullerian duct syndrome, type I
ANK1 Spherocytosis, hereditary 1
AP4E1 Spastic paraplegia 51, autosomal recessive
Stuttering, familial persistent, 1
AQP3 Blood group, GIL
ARID1A Coffin-Siris syndrome 2
Mental retardation, autosomal dominant 14
ASS1 Citrullinemia
ATP6V1B1 Renal tubular acidosis with deafness
BCL10 Immunodeficiency 37
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
CACNA1F Night blindness, congenital stationary, X-linked, type 2A
Cone-rod dystrophy, X-linked, 3
Aland Island eye disease
CAPN3 Eosinophilic myositis
Muscular dystrophy, limb-girdle, type 2A
CCDC88C Spinocerebellar ataxia 40
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CHD8 Autism, susceptibility to 18
CHRNB2 Epilepsy, nocturnal frontal lobe, type 3
CLDN16 Hypomagnesemia 3, renal
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
COL4A3BP Mental retardation, autosomal dominant 34
COMP Multiple ephiphyseal dysplasia
Pseudoachondroplasia
CRYAA Cataract 9, multiple types
CUBN Megaloblastic anemia-1, Finnish type
CYP21A2 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
DBH Dopamine beta-hydroxylase deficiency
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
EARS2 Combined oxidative phosphorylation deficiency 12
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction
EEF1A2 Mental retardation, autosomal dominant 28
Epileptic encephalopathy, early infantile, 33
EIF4G1 Macular dystrophy with central cone involvement
Parkinson disease 18
ERF Craniosynostosis 4
F5 Factor V deficiency
Thrombophilia due to activated protein C resistance
FAM65B Deafness, autosomal recessive 104
FAM83H Amelogenesis imperfecta, type 3
FERMT1 Kindler 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
FN1 Glomerulopathy with fibronectin deposits 2
FUT6 Fucosyltransferase 6 deficiency
FUZ Neural tube defects, susceptibility to
FYCO1 Cataract, autosomal recessive congenital 2
GALC Krabbe disease
GCNT2 Cataract 13 with adult i phenotype
Adult i phenotype without cataract
Blood group, Ii
GFI1B Bleeding disorder, platelet-type, 17
GK Glycerol kinase deficiency
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
GNMT Glycine N-methyltransferase deficiency
GPSM2 Deafness, autosomal recessive 82
Chudley-McCullough syndrome
GRHL3 van der Woude syndrome 2
GRHPR Hyperoxaluria, primary, type II
HMCN1 Macular degeneration, age-related, 1
HNF1B Renal cell carcinoma, nonpapillary chromophobe
HOXA13 Hand-foot-uterus syndrome
Guttmacher syndrome
Hand-foot-genital syndrome
HUWE1 Mental retardation, X-linked syndromic, Turner type
INF2 Charcot-Marie-Tooth disease, dominant intermediate E
Focal segmental glomerulosclerosis 5
INSR Donohoe syndrome
Rabson-Mendenhall syndrome
Hyperinsulinemic hypoglycemia, familial, 5
IRF7 Immunodeficiency 39
JAK2 Thrombocythemia 3
JAK3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, natural killer cell-negative
JUP Naxos disease
Arrhythmogenic right ventricular dysplasia, familial, 12
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNC3 Spinocerebellar ataxia 13
KCNQ2 Myokymia
Benign familial neonatal seizures, 1
Epileptic encephalopathy, early infantile, 7
KDM1A Cleft palate, psychomotor retardation, and distinctive facial features
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
KIT Gastrointestinal stromal tumor
KRT13 White sponge nevus 2
KRT2 Ichthyosis exfoliativa
Ichthyosis bullosa of Siemens
LAMA2 Schizophrenia
Muscular dystrophy, congenital merosin-deficient, 1A
LAMA3 Epidermolysis bullosa, generalized atrophic benign
Epidermolysis bullosa, junctional, Herlitz type
Laryngoonychocutaneous syndrome
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities
Pierson syndrome
LARS2 Perrault syndrome 4
LDLR Hypercholesterolemia, familial
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
MAP2K2 Cardiofaciocutaneous syndrome
MLYCD Malonyl-CoA decarboxylase deficiency
MS4A1 Immunodeficiency, common variable, 5
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
MYBPC3 Left ventricular noncompaction 10
Cardiomyopathy, dilated, 1MM
Cardiomyopathy, familial hypertrophic, 4
MYO7A Usher syndrome, type 1B
Deafness, autosomal recessive 2
NADK2 2,4-dienoyl-CoA reductase deficiency
NBAS Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
Infantile liver failure syndrome 2
NDUFV2 Mitochondrial complex I deficiency
NEB Nemaline myopathy 2
NFKB2 Immunodeficiency, common variable, 10
NIN Seckel syndrome 7
NLRP12 Familial cold autoinflammatory syndrome 2
NLRP3 Muckle-Wells syndrome
Neonatal Onset Multisystem Inflammatory Disease (NOMID)
Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome
NME8 Ciliary dyskinesia, primary, 6
NOP56 Spinocerebellar ataxia 36
OSMR Amyloidosis, primary localized cutaneous, 1
PACS1 Mental retardation, autosomal dominant 17
PAX2 Papillorenal syndrome
Isolated renal hypoplasia
PAX5 Pre-B cell acute lymphoblastic leukemia
PC Pyruvate carboxylase deficiency
PDE6C Cone dystrophy 4
PDGFRA Gastrointestinal stromal tumor
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
PKD1 Polycystic kidney disease, adult type I
PLOD3 Bone fragility with contractures, arterial rupture, and deafness
POGZ Mental retardation, autosomal dominant 37 (White-Sutton syndrome)
POLE Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
Colorectal cancer, susceptibility to, 12
POMT1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
POMT2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
PROM1 Retinitis pigmentosa 41
Stargardt disease 4
Macular dystrophy, retinal, 2
Cone-rod dystrophy 12
PRPF3 Retinitis pigmentosa 18
PRPF6 Retinitis pigmentosa 60
PRSS12 Mental retardation, autosomal recessive 1
PTH1R Failure of tooth eruption, primary
Metaphyseal chondrodysplasia, Murk Jansen type
Chondrodysplasia, Blomstrand type
Eiken syndrome
RIMS1 Cone-rod dystrophy 7
RNF168 RIDDLE syndrome
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
SERPINE1 Plasminogen activator inhibitor-1 deficiency
SETD2 Luscan-Lumish syndrome
SFXN4 Combined oxidative phosphorylation deficiency 18
SGCG Muscular dystrophy, limb-girdle, type 2C
SH3BP2 Cherubism
SLC12A3 Gitelman syndrome
SLC1A1 Dicarboxylic aminoaciduria
SLC34A2 Pulmonary alveolar microlithiasis
SLC41A1 Nephronophthisis-like ciliopathy
SLC45A2 Skin/hair/eye pigmentation 5
Oculocutaneous albinism, type IV
SLC6A19 Hartnup disease
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
TAPBP Bare lymphocyte syndrome, type I
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
TMPRSS3 Deafness, autosomal recessive 8
Deafness, autosomal recessive 10
TNXB Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
Vesicoureteral reflux 8
TOPORS Retitinis pigmentosa 31
TPMT Thiopurine S-methyltransferase deficiency
TRAPPC11 Limb-girdle muscular dystrophy, type 2S
TRIM37 Mulibrey nanism
TTN Cardiomyopathy, dilated, 1G
Cardiomyopathy, familial hypertrophic 9
TUBB4A Leukodystrophy, hypomyelinating, 6
Dystonia 4, torsion, autosomal dominant
USH1C Deafness, autosomal recessive 18A
Usher syndrome, type IC
VARS2 Combined oxidative phosphorylation deficiency 20
VCP Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
Charcot-Marie-Tooth disease type, axonal type, 2Y
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
VPS39 Schizophrenia
WDR60 Short -rib thoracic dysplasia 8 with or without polydactyly
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WFS1 Wolfram syndrome
ZIC2 Holoprosencephaly 5

Genes at HGMD

Summary

Number of Variants: 44645
Number of Genes: 948

Export to: CSV

AARS2

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 . 44272822 7310.76 C T PASS 1/1 91 STOP_GAINED HIGH NONSENSE None None None None None None None
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

ABCA7

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 . 1056066 22026.76 A G PASS 1/1 55 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.95 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1056493 49498.78 G C PASS 1/1 67 SYNONYMOUS_CODING LOW SILENT -1.16 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

ABCC1

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 . 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
View 23 recalibrated filtered postcgp gqfiltered 16 . 16138344 14960.56 GT G PASS 1/1 85 FRAME_SHIFT HIGH None None None None None None None

ABCC3

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 . 48762204 1220.63 C T PASS 1/1 40 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 48762128 756.52 G A PASS 1/1 18 STOP_GAINED HIGH NONSENSE None None None None None None None

ABHD15

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 . 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

ABHD17A

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 . 1880951 44774.65 T C PASS 1/1 51 SYNONYMOUS_CODING LOW SILENT -2.03 None None None None None None None

ABHD8

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 . 17405591 173947.24 A AG... PASS 1/1 52 FRAME_SHIFT HIGH None None None None None None None
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
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 . 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

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

AC126614.1

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 12 . 57810500 220317.9 T C PASS 1/1 38 SYNONYMOUS_CODING LOW SILENT 1.29 None None None None None None None

ACAP1

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 . 7247233 77667.15 A G PASS 1/1 45 SYNONYMOUS_CODING LOW 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

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

ACOT4

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 . 74060500 41906.4 G A PASS 1/1 3 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACSBG2

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 . 6156472 284867.99 T C PASS 1/1 58 SYNONYMOUS_CODING LOW -0.15 None None None None None None 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 . 20480985 25007.76 G A PASS 1/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 20480994 20811.76 C T PASS 1/1 20 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 20480982 25138.76 A T PASS 1/1 26 SYNONYMOUS_CODING LOW None None None None None None None

ACSM2B

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 . 20554263 2525.33 G A PASS 1/1 47 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACSM5

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 . 20441019 2347.52 T C PASS 1/1 84 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACTN2

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 . 236897756 32931.25 A C PASS 1/1 11 None None None 0.00 1.00 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 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
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 . 37384622 937.31 A G PASS 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None
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

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 rs760147804
dbSNP
33637794 51827.5 G A PASS 1/1 32 SYNONYMOUS_CODING LOW SILENT None None None None None None None
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

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 . 5186299 1002.9 A AGG PASS 1/1 5 FRAME_SHIFT HIGH 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 rs552133431,rs75054093
dbSNP
18826263 13964.09 GTT GT,G PASS 1/1 32 None None None 0.00619 0.00619 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 18777370 20558.1 T C PASS 1/1 231 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 18775812 13361.48 C A PASS 1/1 84 SYNONYMOUS_CODING LOW SILENT -0.18 None None None None None None None

ADAMTSL5

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 . 1510662 3193.05 A G PASS 1/1 21 SYNONYMOUS_CODING LOW 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 . 202920079 16125.15 T C PASS 1/1 7 SYNONYMOUS_CODING LOW 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 . 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 . 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 . 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 . 978812 2145.18 G C PASS 1/1 31 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 978953 2556.26 C G PASS 1/1 77 SYNONYMOUS_CODING LOW -0.89 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 979496 7139.58 T C PASS 1/1 154 SYNONYMOUS_CODING LOW -1.06 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

AGXT2

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 . 35026578 43471.39 A G PASS 1/1 38 SYNONYMOUS_CODING LOW 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 . 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 . 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 . 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 . 62297369 100474.75 T C PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 62297372 101810.75 G C PASS 1/1 17 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 62296427 33097.79 C CA PASS 1/1 72 FRAME_SHIFT HIGH 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 . 428051 5249.91 GC G PASS 1/1 28 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 353936 35681.1 T C PASS 1/1 42 SYNONYMOUS_CODING LOW 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 . 434607 4210.22 G C PASS 1/1 58 SYNONYMOUS_CODING LOW 0.18 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

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

ALDH1A3

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 rs749061521
dbSNP
101427879 963.0 C T PASS 1/1 5 SYNONYMOUS_CODING LOW SILENT 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
View 23 recalibrated filtered postcgp gqfiltered 9 . 38395943 200087.2 T C PASS 1/1 120 SYNONYMOUS_CODING LOW SILENT 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 . 4536206 59597.63 C G PASS 1/1 96 SYNONYMOUS_CODING LOW 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 . 21890615 263454.89 G A PASS 1/1 68 SYNONYMOUS_CODING LOW 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
View 23 recalibrated filtered postcgp gqfiltered 5 . 33989413 131600.74 C T PASS 1/1 79 SYNONYMOUS_CODING LOW SILENT 2.43 None None rs2278008 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 rs762042767
dbSNP
131520113 20314.64 C T PASS 1/1 219 SYNONYMOUS_CODING LOW SILENT 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
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 . 131520389 5281.26 T C PASS 1/1 88 SYNONYMOUS_CODING LOW SILENT 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
View 23 recalibrated filtered postcgp gqfiltered 19 . 2249478 20171.73 G T PASS 1/1 98 SYNONYMOUS_CODING LOW SILENT 1.77 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 2251818 28071.26 T C PASS 1/1 130 SYNONYMOUS_CODING LOW 0.79 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

ANAPC15

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 . 71821298 14513.92 G T PASS 1/1 12 None None None 0.57 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 71821307 19546.39 T C PASS 1/1 17 None None None 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

ANK1

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 8 . 41530402 11042.59 C T PASS 1/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANKRD12

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 . 9255984 36607.74 A G PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88 0.00 3.34 None None None None None None None

ANKRD13A

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 . 110451052 1634.57 C T PASS 1/1 35 STOP_GAINED+SPLICE_SITE_REGION HIGH NONSENSE None None None None None None None

ANKRD16

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 . 5925043 2539.92 T C PASS 1/1 14 SYNONYMOUS_CODING LOW None None None None None None None

ANKRD17

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 4 rs745660952
dbSNP
73981575 29274.36 G C PASS 1/1 121 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84 None None None None None None None

ANKRD24

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 . 4217210 29538.19 T G PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.00 -1.30 None None None None None None None

ANKRD30B

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 . 14848821 13824.12 C T PASS 1/1 23 SYNONYMOUS_CODING LOW SILENT -0.97 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 14852336 11625.56 C A PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.96 0.44 None None None None None None None

ANKRD33B

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 . 10564734 1243.18 C T PASS 1/1 24 SYNONYMOUS_CODING LOW None None None None None None None

ANKRD55

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 . 55422790 19137.58 G C PASS 1/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANKRD65

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 . 1354531 42271.69 G A PASS 1/1 56 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 1355779 91.05 GA G PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None None

ANKRD9

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 . 102973945 101130.2 G T PASS 1/1 112 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AOX1

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 . 201480753 1600.19 C A PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70 0.00 None None None None None None None

AP001631.10

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 21 . 44579526 12372.9 A C PASS 1/1 21 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 44579776 102255.94 G C PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.94 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 44579876 154635.31 G C PASS 1/1 52 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 1.00 0.00 None None None None None None None

AP2A1

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 . 50308964 24274.25 A G PASS 1/1 141 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 50310006 3233.06 T G PASS 1/1 16 SYNONYMOUS_CODING LOW None None None None None None None

AP3D1

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 . 2138655 42318.24 T G PASS 1/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14 0.11 None None None None None None None

AP4E1

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 . 51242350 1320.72 C A PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None