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Genes:
AARS2, ABCC10, ABCF1, ABHD16A, ABT1, ACAT2, ADGB, AGER, AIG1, AIM1, AK9, AKAP12, AKAP7, AL078585.1, AL583828.1, AL645922.1, ANKRD6, ANKS1A, APOBEC2, ARHGAP18, ARID1B, ARMC12, ASCC3, ATF6B, ATXN1, BAG6, BAI3, BCLAF1, BEND3, BMP6, BPHL, BRD2, BRPF3, BTN1A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, BTNL2, C2, C4A, C4B, C6orf1, C6orf10, C6orf100, C6orf118, C6orf132, C6orf141, C6orf15, C6orf164, C6orf201, C6orf222, C6orf47, C6orf57, CAGE1, CAP2, CAPN11, CCDC170, CCHCR1, CCND3, CCR6, CD109, CD2AP, CDKAL1, CDKN1A, CDSN, CDYL, CENPQ, CENPW, CEP85L, CFB, CLDN20, CLIC5, CLPSL1, CLPSL2, CNKSR3, CNPY3, COL11A2, COL12A1, COL19A1, COL9A1, COQ3, CPNE5, CRIP3, CRISP3, CTGF, CUL7, CUL9, CYP21A2, CYP39A1, DACT2, DCDC2, DDR1, DDX39B, DEF6, DEK, DHX16, DLK2, DNAH8, DPCR1, DSE, DSP, DST, DTNBP1, DUSP22, ECI2, ECT2L, EDN1, EEF1E1, EFHC1, EHMT2, ENPP4, ENPP5, EPB41L2, EPHA7, EPM2A, ERVFRD-1, ESR1, ETV7, EYS, F13A1, FAM120B, FAM135A, FAM217A, FAM26D, FAM26F, FAM46A, FAM65B, FAM83B, FARS2, FAXC, FBXO30, FBXO5, FGD2, FIG4, FNDC1, FOXC1, FOXF2, FOXO3, FOXP4, FOXQ1, FRK, FRMD1, FRS3, FUCA2, FUT9, GABBR1, GABRR1, GABRR2, GCLC, GCNT2, GFRAL, GJB7, GJE1, GLO1, GLP1R, GLYATL3, GMPR, GNL1, GPLD1, GPR111, GPR115, GPR116, GPR126, GPR31, GPRC6A, GPX6, GRM4, GSTA1, GSTA2, GSTA5, GTF2H4, GTPBP2, GUCA1B, HBS1L, HCG27, HCRTR2, HDAC2, HECA, HINT3, HIST1H1A, HIST1H1B, HIST1H1C, HIST1H1D, HIST1H1T, HIST1H2AA, HIST1H2AB, HIST1H2AD, HIST1H2AH, HIST1H2AL, HIST1H2BA, HIST1H2BE, HIST1H2BF, HIST1H2BG, HIST1H2BN, HIST1H3C, HIST1H3J, HIST1H4B, HIST1H4C, HIST1H4G, HIST1H4H, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HTR1B, HUS1B, IER3, IFNGR1, IGF2R, IL20RA, IMPG1, IP6K3, IPCEF1, IRAK1BP1, ITPR3, IYD, JARID2, KATNA1, KCNK16, KCNK17, KCNQ5, KDM1B, KHDC1, KHDRBS2, KIAA0319, KIAA0408, KIAA1919, KIF13A, KIF25, KIF6, KLHL31, KLHL32, KPNA5, L3MBTL3, LAMA2, LAMA4, LATS1, LCA5, LMBRD1, LPA, LRFN2, LRP11, LRRC1, LRRC16A, LYRM2, LYRM4, MAK, MAN1A1, MANEA, MAP3K4, MAP3K5, MAP7, MAPK13, MB21D1, MCCD1, MCM3, MCM9, MCUR1, MDC1, MDGA1, MDN1, ME1, MEP1A, METTL24, MICA, MICAL1, MLIP, MLLT4, MLN, MOG, MOXD1, MRPL14, MRPL18, MRS2, MTCH1, MTHFD1L, MTO1, MTRF1L, MUC21, MUC22, MYB, MYLIP, NCOA7, NCR2, NDUFAF4, NEDD9, NFKBIL1, NHLRC1, NHSL1, NKAPL, NOL7, NOTCH4, NOX3, NQO2, NT5E, NUP153, NUP43, OARD1, OOEP, OPRM1, OR10C1, OR11A1, OR12D1, OR12D2, OR12D3, OR14J1, OR2B2, OR2H2, OR2J1, OR2J2, OR2J3, OR5V1, PACSIN1, PAQR8, PBX2, PCMT1, PDE10A, PERP, PEX6, PGBD1, PHACTR1, PHF1, PHIP, PI16, PKHD1, PLA2G7, PLEKHG1, PLG, PNLDC1, PNPLA1, POLH, POLR1C, POM121L2, POU3F2, POU5F1, PPIL1, PPP1R14C, PPP1R18, PPP1R3G, PPT2, PRDM1, PREP, PRIM2, PRL, PRPF4B, PRPH2, PRR18, PRR3, PRRC2A, PRSS16, PRSS35, PSMG4, PSORS1C1, PSORS1C2, PTCHD4, PTCRA, PTK7, PTPRK, PXDC1, RAB44, RAET1E, REV3L, RIMS1, RIOK1, RIPK1, RNASET2, RNF217, RNF8, RNGTT, ROS1, RP1-139D8.6, RPL7L1, RPP21, RPP40, RPS6KA2, RREB1, RSPH3, RSPH4A, RSPO3, RXRB, SAMD3, SAMD5, SASH1, SCAND3, SCML4, SCUBE3, SDIM1, SEC63, SENP6, SERAC1, SERPINB6, SFTA2, SHPRH, SIM1, SKIV2L, SLC16A10, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC17A5, SLC22A1, SLC22A2, SLC22A23, SLC22A3, SLC22A7, SLC25A27, SLC26A8, SLC2A12, SLC39A7, SLC44A4, SMAP1, SMLR1, SMPD2, SMPDL3A, SNAP91, SNRPC, SOBP, SOD2, SPATS1, SRPK1, SSR1, STMND1, STXBP5, SUMO4, SUPT3H, SYCP2L, SYNE1, SYNGAP1, SYNJ2, SYTL3, T, TAAR1, TAAR6, TAAR8, TAAR9, TAB2, TAF8, TAP2, TAPBP, TBC1D22B, TBC1D32, TBCC, TBP, TBX18, TCF19, TCP10, TCP10L2, TCP11, TCTE1, TDP2, TDRD6, TFB1M, TFEB, THBS2, THEMIS, TIAM2, TINAG, TJAP1, TMEM151B, TMEM200A, TMEM244, TNXB, TPBG, TPMT, TRAF3IP2, TRDN, TREML4, TRIM10, TRIM15, TRIM26, TRIM31, TRIM38, TRIM39, TSPYL1, TSPYL4, TTBK1, TTK, TTLL2, TUBB2A, TULP1, TULP4, UBD, UBE3D, UBR2, UHRF1BP1, ULBP2, UNC5CL, UNC93A, USP45, USP49, UTRN, VARS, VARS2, VEGFA, VNN1, VNN2, VNN3, VPS52, VTA1, WDR46, WISP3, WRNIP1, XPO5, ZBTB2, ZBTB22, ZBTB9, ZC3H12D, ZDHHC14, ZKSCAN3, ZKSCAN8, ZNF184, ZNF292, ZNF311, ZNF318, ZSCAN12, ZSCAN31,

+ Genes associated with diseases 119

Genes at Omim

AARS2, ACAT2, ARID1B, ATXN1, BTNL2, C2, C4A, C4B, CD2AP, CDSN, CFB, CLIC5, CNPY3, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DEK, DSE, DSP, DST, DTNBP1, EDN1, EFHC1, EPM2A, ESR1, EYS, F13A1, FARS2, FIG4, FOXC1, GCLC, GCNT2, GTPBP2, GUCA1B, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-G, HMGA1, IFNGR1, IGF2R, IMPG1, ITPR3, IYD, KCNQ5, LAMA2, LAMA4, LCA5, LMBRD1, LPA, LYRM4, MAK, MCM9, MOG, MTO1, MYB, NDUFAF4, NFKBIL1, NHLRC1, NQO2, NT5E, OR2J3, PDE10A, PEX6, PHACTR1, PHIP, PLA2G7, PLG, PNPLA1, POLH, POLR1C, PRPH2, RIMS1, RIPK1, RNASET2, RSPH3, RSPH4A, SASH1, SEC63, SERAC1, SERPINB6, SIM1, SKIV2L, SLC17A3, SLC17A5, SLC26A8, SLC44A4, SOBP, SOD2, SUMO4, SYNE1, SYNGAP1, T, TAB2, TAP2, TAPBP, TBP, TBX18, TDP2, THBS2, TNXB, TPMT, TRAF3IP2, TRDN, TSPYL1, TUBB2A, TULP1, VARS, VARS2, VNN1, WISP3,

AARS2	Combined oxidative phosphorylation deficiency 8, 614096 (3) Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ACAT2	?ACAT2 deficiency, 614055 (1)
ARID1B	Coffin-Siris syndrome 1, 135900 (3)
ATXN1	Spinocerebellar ataxia 1, 164400 (3)
BTNL2	{Sarcoidosis, susceptibility to, 2}, 612387 (3)
C2	C2 deficiency, 217000 (3) {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)
C4A	C4a deficiency, 614380 (3) [Blood group, Rodgers], 614374 (3)
C4B	C4B deficiency, 614379 (3)
CD2AP	Glomerulosclerosis, focal segmental, 3, 607832 (3)
CDSN	Hypotrichosis 2, 146520 (3) Peeling skin syndrome 1, 270300 (3)
CFB	{Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3) {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3) ?Complement factor B deficiency, 615561 (3)
CLIC5	?Deafness, autosomal recessive 103, 616042 (3)
CNPY3	Epileptic encephalopathy, early infantile, 60, 617929 (3)
COL11A2	Fibrochondrogenesis 2, 614524 (3) Deafness, autosomal dominant 13, 601868 (3) Deafness, autosomal recessive 53, 609706 (3) Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3) Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3)
COL12A1	Bethlem myopathy 2, 616471 (3) ?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL9A1	?Epiphyseal dysplasia, multiple, 6, 614135 (3) Stickler syndrome, type IV, 614134 (3)
CUL7	3-M syndrome 1, 273750 (3)
CYP21A2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3) Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
DCDC2	?Deafness, autosomal recessive 66, 610212 (3) Nephronophthisis 19, 616217 (3) Sclerosing cholangitis, neonatal, 617394 (3)
DEK	Leukemia, acute nonlymphocytic (2)
DSE	Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (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)
DST	Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3) ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
DTNBP1	Hermansky-Pudlak syndrome 7, 614076 (3)
EDN1	{High density lipoprotein cholesterol level QTL 7} (3) Auriculocondylar syndrome 3, 615706 (3) Question mark ears, isolated, 612798 (3)
EFHC1	{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3) {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3)
EPM2A	Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)
ESR1	{HDL response to hormone replacement, augmented} (3) Breast cancer, somatic, 114480 (3) {Migraine, susceptibility to}, 157300 (3) {Myocardial infarction, susceptibility to}, 608446 (3) Estrogen resistance, 615363 (3) {Atherosclerosis, susceptibility to} (3)
EYS	Retinitis pigmentosa 25, 602772 (3)
F13A1	Factor XIIIA deficiency, 613225 (3) {Myocardial infarction, protection against}, 608446 (3) {Venous thrombosis, protection against}, 188050 (3)
FARS2	Combined oxidative phosphorylation deficiency 14, 614946 (3) Spastic paraplegia 77, autosomal recessive, 617046 (3)
FIG4	Amyotrophic lateral sclerosis 11, 612577 (3) Charcot-Marie-Tooth disease, type 4J, 611228 (3) ?Polymicrogyria, bilateral temporooccipital, 612691 (3) Yunis-Varon syndrome, 216340 (3)
FOXC1	Anterior segment dysgenesis 3, multiple subtypes, 601631 (3) Axenfeld-Rieger syndrome, type 3, 602482 (3)
GCLC	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3) {Myocardial infarction, susceptibility to}, 608446 (3)
GCNT2	Adult i phenotype without cataract, 110800 (3) Cataract 13 with adult i phenotype, 116700 (3) [Blood group, Ii], 110800 (3)
GTPBP2	Jaberi-Elahi syndrome, 617988 (3)
GUCA1B	Retinitis pigmentosa 48, 613827 (3)
HIVEP2	Mental retardation, autosomal dominant 43, 616977 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3) {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) {Synovitis, chronic, susceptibility to} (3) {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) {Abacavir hypersensitivity, susceptibility to} (3) {Drug-induced liver injury due to flucloxacillin} (3)
HLA-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
HLA-DPB1	{Beryllium disease, chronic, susceptibility to} (3)
HLA-DQA1	{Celiac disease, susceptibility to}, 212750 (3)
HLA-DQB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Celiac disease, susceptibility to}, 212750 (3) {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HLA-G	{Asthma, susceptibility to}, 600807 (2)
HMGA1	{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
IFNGR1	{H. pylori infection, susceptibility to}, 600263 (3) {Hepatitis B virus infection, susceptibility to}, 610424 (3) Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3) Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3) {Tuberculosis infection, protection against}, 607948 (3) {Tuberculosis, susceptibility to}, 607948 (3)
IGF2R	Hepatocellular carcinoma, somatic, 114550 (3)
IMPG1	Macular dystrophy, vitelliform, 4, 616151 (3)
ITPR3	{Diabetes, type 1, susceptibility to}, 222100 (2)
IYD	Thyroid dyshormonogenesis 4, 274800 (3)
KCNQ5	Mental retardation, autosomal dominant 46, 617601 (3)
LAMA2	Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3) Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)
LAMA4	Cardiomyopathy, dilated, 1JJ, 615235 (3)
LCA5	Leber congenital amaurosis 5, 604537 (3)
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
LPA	[LPA deficiency, congenital] (3) {Coronary artery disease, susceptibility to} (1)
LYRM4	?Combined oxidative phosphorylation deficiency 19, 615595 (3)
MAK	Retinitis pigmentosa 62, 614181 (3)
MCM9	Ovarian dysgenesis 4, 616185 (3)
MOG	?Narcolepsy 7, 614250 (3)
MTO1	Combined oxidative phosphorylation deficiency 10, 614702 (3)
MYB	{T-cell acute lymphoblastic leukemia} (3)
NDUFAF4	Mitochondrial complex I deficiency, nuclear type 15, 618237 (3)
NFKBIL1	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
NHLRC1	Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NQO2	{?Breast cancer susceptibility}, 114480 (1)
NT5E	Calcification of joints and arteries, 211800 (3)
OR2J3	[C3HEX, ability to smell], 615082 (3)
PDE10A	Dyskinesia, limb and orofacial, infantile-onset, 616921 (3) Striatal degeneration, autosomal dominant, 616922 (3)
PEX6	Heimler syndrome 2, 616617 (3) Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3) Peroxisome biogenesis disorder 4B, 614863 (3)
PHACTR1	Epileptic encephalopathy, early infantile, 70, 618298 (3)
PHIP	Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991 (3)
PLA2G7	Platelet-activating factor acetylhydrolase deficiency, 614278 (3) {Asthma, susceptibility to}, 600807 (3) {Atopy, susceptibility to}, 147050 (3)
PLG	Dysplasminogenemia, 217090 (3) Plasminogen deficiency, type I, 217090 (3)
PNPLA1	Ichthyosis, congenital, autosomal recessive 10, 615024 (3)
POLH	Xeroderma pigmentosum, variant type, 278750 (3)
POLR1C	Leukodystrophy, hypomyelinating, 11, 616494 (3) Treacher Collins syndrome 3, 248390 (3)
PRPH2	Choroidal dystrophy, central areolar 2, 613105 (3) Leber congenital amaurosis 18, 608133 (3) Macular dystrophy, patterned, 1, 169150 (3) Macular dystrophy, vitelliform, 3, 608161 (3) Retinitis pigmentosa 7 and digenic form, 608133 (3) Retinitis punctata albescens, 136880 (3)
RIMS1	Cone-rod dystrophy 7, 603649 (3)
RIPK1	Immunodeficiency 57, 618108 (3)
RNASET2	Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
RSPH3	Ciliary dyskinesia, primary, 32, 616481 (3)
RSPH4A	Ciliary dyskinesia, primary, 11, 612649 (3)
SASH1	Dyschromatosis universalis hereditaria 1, 127500 (3) ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373 (3)
SEC63	Polycystic liver disease 2, 617004 (3)
SERAC1	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)
SERPINB6	?Deafness, autosomal recessive 91, 613453 (3)
SIM1	Obesity, severe, 601665 (3)
SKIV2L	Trichohepatoenteric syndrome 2, 614602 (3)
SLC17A3	{Gout susceptibility 4}, 612671 (3) [Uric acid concentration, serum, QTL4], 612671 (3)
SLC17A5	Salla disease, 604369 (3) Sialic acid storage disorder, infantile, 269920 (3)
SLC26A8	Spermatogenic failure 3, 606766 (3)
SLC44A4	?Deafness, autosomal dominant 72, 617606 (3)
SOBP	Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)
SOD2	{Microvascular complications of diabetes 6}, 612634 (3)
SUMO4	{Diabetes mellitus, insulin-dependent, 5}, 600320 (3)
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3) Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
SYNGAP1	Mental retardation, autosomal dominant 5, 612621 (3)
T	{Neural tube defects, susceptibility to}, 182940 (3) Sacral agenesis with vertebral anomalies, 615709 (3)
TAB2	Congenital heart defects, nonsyndromic, 2, 614980 (3)
TAP2	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)
TAPBP	Bare lymphocyte syndrome, type I, 604571 (3)
TBP	{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (3)
TBX18	Congenital anomalies of kidney and urinary tract 2, 143400 (3)
TDP2	Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
THBS2	{Lumbar disc herniation, susceptibility to}, 603932 (3)
TNXB	Ehlers-Danlos syndrome, classic-like, 1 606408 (3) Vesicoureteral reflux 8, 615963 (3)
TPMT	{Thiopurines, poor metabolism of, 1}, 610460 (3)
TRAF3IP2	{Psoriasis susceptibility 13}, 614070 (3) ?Candidiasis, familial, 8, 615527 (3)
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
TSPYL1	Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
TUBB2A	Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)
TULP1	Leber congenital amaurosis 15, 613843 (3) Retinitis pigmentosa 14, 600132 (3)
VARS	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3)
VARS2	Combined oxidative phosphorylation deficiency 20, 615917 (3)
VNN1	[High density lipoprotein cholesterol level QTL 8] (3)
WISP3	Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3)

Genes at Clinical Genomics Database

AARS2, ARID1B, ATXN1, C2, C4A, C4B, CD2AP, CDSN, CFB, CLIC5, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DSE, DSP, DST, DTNBP1, EDN1, EFHC1, EPM2A, ESR1, EYS, F13A1, FAM65B, FARS2, FIG4, FOXC1, GCLC, GCNT2, GUCA1B, HLA-A, HLA-B, HSPA1L, IFNGR1, IMPG1, IYD, LAMA2, LAMA4, LCA5, LMBRD1, LPA, LYRM4, MAK, MCM9, MOG, MTO1, NDUFAF4, NHLRC1, NT5E, PDE10A, PEX6, PKHD1, PLA2G7, PLG, PNPLA1, POLH, POLR1C, PRPH2, RIMS1, RNASET2, RSPH3, RSPH4A, SEC63, SERAC1, SERPINB6, SKIV2L, SLC17A5, SLC26A8, SOBP, SYNE1, SYNGAP1, T, TAB2, TAP2, TAPBP, TBP, TBX18, TDP2, TNXB, TPMT, TRAF3IP2, TRDN, TSPYL1, TUBB2A, TULP1, VARS2, WISP3,

AARS2	Leukoencephalopathy, progressive, with ovarian failure
ARID1B	Mental retardation, autosomal dominant, 12 Coffin-Siris syndrome 1
ATXN1	Spinocerebellar ataxia 1
C2	Complement component 2 deficiency
C4A	Blood group, Chido/Rodgers system
C4B	Complement component 4B deficiency
CD2AP	Focal segmental glomerulosclerosis 3
CDSN	Hypotrichosis 2 Peeling skin syndrome 1
CFB	Hemolytic uremic syndrome, atypical Complement factor B deficiency
CLIC5	Deafness, autosomal recessive 103
COL11A2	Deafness, autosomal dominant 13 Deafness, autosomal recessive 53 Fibrochondrogenesis 2 Weissenbacher-Zweymuller syndrome Otospondylomegaepiphyseal dysplasia Stickler syndrome, type III
COL12A1	Bethlem myopathy 2 Ullrich congenital muscular dystrophy 2
COL9A1	Stickler syndrome, type IV
CUL7	Three M syndrome 1 Yakut short stature syndrome
CYP21A2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
DCDC2	Deafness, autosomal recessive 66
DSE	Ehlers-Danlos syndrome, musculocontractural type 2
DSP	Arrhythmogenic right ventricular dysplasia, familial 8 Cardiomyopathy, dilated, with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DST	Neuropathy, hereditary sensory and autonomic, type VI
DTNBP1	Hermansky-Pudlak syndrome 7
EDN1	Dominant Isolated Question-Mark Ears Auriculocondylar Syndrome 3
EFHC1	Epilepsy, myoclonic juvenile Epilepsy, juvenile absence, susceptibility to, 1 Epilepsy, severe intractable
EPM2A	Epilepsy, progressive myoclonic 2A (Lafora)
ESR1	Estrogen resistance
EYS	Retitinis pigmentosa 25
F13A1	Factor XIIIA deficiency
FAM65B	Deafness, autosomal recessive 104
FARS2	Combined oxidative phosphorylation deficiency 14
FIG4	Amyotrophic lateral sclerosis 11 Charcot-Marie Tooth disease, autosomal recessive, type 4J Polymicrogyria, bilateral occipital Yunis-Varon syndrome
FOXC1	Peters anomaly Axenfeld-Rieger syndrome, type 3 Iridogoiodysgenesis, type 1
GCLC	Gamma-glutamylcysteine synthetase deficiency
GCNT2	Blood group, Ii Adult i phenotype without cataract Cataract 13 with adult i phenotype
GUCA1B	Retinitis pigmentosa 48
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
HSPA1L	Abacavir, susceptibility to toxicity with
IFNGR1	Immunodeficiency 27B Immunodeficiency 27A
IMPG1	Macular dystrophy, vitelliform, 4
IYD	Thyroid dyshormonogenesis 4
LAMA2	Muscular dystrophy, congenital merosin-deficient, 1A Schizophrenia
LAMA4	Cardiomyopathy, dilated, 1JJ
LCA5	Leber congenital amaurosis 5
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type
LPA	Lipoprotein A deficiency, congenital
LYRM4	Combined oxidative phosphorylation deficiency 19
MAK	Retinitis pigmentosa 62
MCM9	Ovarian dysgenesis 4
MOG	Narcolepsy 7
MTO1	Combined oxidative phosphorylation deficiency 10
NDUFAF4	Mitochondrial complex I deficiency
NHLRC1	Epilepsy, progressive myoclonic 2B (Lafora)
NT5E	Calcification of joints and arteries
PDE10A	Striatal degeneration, autosomal dominant 2 Infantile-onset dyskinesia
PEX6	Heimler syndrome 2
PKHD1	Polycystic kidney disease, autosomal recessive
PLA2G7	Platelet-activating factor acetylhydrolase deficiency
PLG	Plasminogen deficiency, type I
PNPLA1	Ichthyosis, congenital, autosomal recessive 10
POLH	Xeroderma pigmentosum, variant type
POLR1C	Treacher Collins syndrome 3
PRPH2	Choriodal dystrophy, central areolar 2 Retinitis punctata albescens Macular dystrophy, vitelliform 3 Macula dystrophy, patterned 1 Retinitis pigmentosa 7
RIMS1	Cone-rod dystrophy 7
RNASET2	Leukoencephalopathy, cystic, without megalencephaly
RSPH3	Ciliary dyskinesia, primary, 32
RSPH4A	Ciliary dyskinesia, primary, 11
SEC63	Polycystic liver disease
SERAC1	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SERPINB6	Deafness, autosomal recessive 91
SKIV2L	Trichohepatoenteric syndrome 2
SLC17A5	Infantile sialic acid storage disorder Sialuria, Finnish type (Salla disease)
SLC26A8	Spermatogenic failure 3
SOBP	Mental retardation, anterior maxillary protrusion, and strabismus
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8
SYNGAP1	Mental retardation, autosomal dominant 5
T	Chordoma
TAB2	Congenital heart defects, multiple types, 2
TAP2	Bare lymphocyte syndrome, type I
TAPBP	Bare lymphocyte syndrome, type I
TBP	Spinocerebellar ataxia 17
TBX18	Congenital anomalies of the kidney and urinary tract 2
TDP2	Spinocerebellar ataxia, autosomal recessive 23
TNXB	Vesicoureteral reflux 8 Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TPMT	Thiopurine S-methyltransferase deficiency
TRAF3IP2	Candidiasis, familial 8
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
TSPYL1	Sudden infant death with dysgenesis of the testes syndrome 46, XY disorder of sex development
TUBB2A	Cortical dysplasia, complex, with other brain malformations 5
TULP1	Leber congenital amaurosis 15 Retinitis pigmentosa 14
VARS2	Combined oxidative phosphorylation deficiency 20
WISP3	Spondyloepiphyseal dysplasia tarda with progressive arthropathy Arthropathy, progressive pseudorheumatoid, of childhood

Genes at HGMD

Summary

Number of Variants: 9426
Number of Genes: 539

Export to: CSV

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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	combined sample_67.variant28	6	rs498512 dbSNP Clinvar	44269193	2310.34	C	T	PASS	0/1	78	SYNONYMOUS_CODING	LOW	None	0.58267	0.58270	0.32101				None None	None None None None	TMEM151B\|0.178433912\|39.22%,AARS2\|0.089485788\|53.33%
	View	combined sample_67.variant28	6	rs325008 dbSNP Clinvar	44268371	3692.26	T	C	PASS	1/1	175	SYNONYMOUS_CODING	LOW	None	0.86941	0.86940	0.12886				None None	None None None None	TMEM151B\|0.178433912\|39.22%,AARS2\|0.089485788\|53.33%
	View	combined sample_67.variant28	6	rs324136 dbSNP Clinvar	44275011	6463.94	T	C	PASS	1/1	260	NON_SYNONYMOUS_CODING	MODERATE	None	0.88898	0.88900	0.11341	0.96	0.00		None None	None None None None	TMEM151B\|0.178433912\|39.22%,AARS2\|0.089485788\|53.33%
ABCC10
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_67.variant28	6	rs45535935 dbSNP Clinvar	43400342	3186.76	T	G	PASS	0/1	256	NON_SYNONYMOUS_CODING	MODERATE	None	0.01478	0.01478	0.02122	0.84	0.00		None None	None None None None	ABCC10\|0.125839341\|46.49%
ABCF1
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_67.variant28	6	rs72545970,rs4148252 dbSNP Clinvar	30558477	3251.03	G	GA	PASS	1/1	70	None	None	None	0.71406	0.71410	0.30404				None None	None None None None	ABCF1\|0.199313589\|36.78%
ABHD16A
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_67.variant28	6	rs1475865 dbSNP Clinvar	31657413	1626.12	T	C	PASS	1/1	75	SYNONYMOUS_CODING	LOW	None	0.81609	0.81610	0.27590				None None	None None None None	ABHD16A\|0.218787308\|34.5%
ABT1
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_67.variant28	6	rs3800304 dbSNP Clinvar	26598798	996.84	G	A	PASS	0/1	61	SYNONYMOUS_CODING	LOW	None	0.04892	0.04892	0.06642				None None	None None None None	ABT1\|0.032342215\|68.44%
ACAT2
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_67.variant28	6	rs25683 dbSNP Clinvar	160196343	742.44	A	G	PASS	1/1	60	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.36522	0.36520	0.45433	0.04	0.02		None None	None None None None	ACAT2\|0.090493467\|53.12%
	View	combined sample_67.variant28	6	rs3465 dbSNP Clinvar	160198395	856.52	G	A	PASS	0/1	96	SYNONYMOUS_CODING	LOW	None	0.23522	0.23520	0.31955				None None	None None None None	ACAT2\|0.090493467\|53.12%
ADGB
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_67.variant28	6	rs259370 dbSNP Clinvar	147136244	4973.06	A	G	PASS	0/1	159	NON_SYNONYMOUS_CODING	MODERATE	None	0.73143	0.73140	0.34626	1.00	0.00		None None	None None None None	ADGB\|0.008962502\|81.7%
	View	combined sample_67.variant28	6	rs1052444 dbSNP Clinvar	147136212	5764.83	A	T	PASS	0/1	170	NON_SYNONYMOUS_CODING	MODERATE	None	0.40435	0.40440	0.28922	0.05	0.18		None None	None None None None	ADGB\|0.008962502\|81.7%
	View	combined sample_67.variant28	6	rs259391 dbSNP Clinvar	147106841	1046.12	A	G	PASS	0/1	90	SYNONYMOUS_CODING	LOW	None	0.54752	0.54750	0.45749				None None	None None None None	ADGB\|0.008962502\|81.7%
	View	combined sample_67.variant28	6	rs9497606 dbSNP Clinvar	146993445	1776.63	T	C	PASS	0/1	75	NON_SYNONYMOUS_CODING	MODERATE	None	0.28415	0.28410	0.25975	0.36	0.02		None None	None None None None	ADGB\|0.008962502\|81.7%
	View	combined sample_67.variant28	6	rs9647637 dbSNP Clinvar	147067093	946.23	C	T	PASS	0/1	107	SYNONYMOUS_CODING	LOW	None	0.16054	0.16050	0.21485				None None	None None None None	ADGB\|0.008962502\|81.7%
AGER
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_67.variant28	6	rs1800684 dbSNP Clinvar	32151994	2832.48	A	T	PASS	1/1	94	SYNONYMOUS_CODING	LOW	None	0.96426	0.96430	0.09633				None None	None None None None	AGER\|0.358118947\|23.58%
AIG1