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Genes:
AARS2, ABCC10, ABCF1, ABHD16A, ABRACL, ABT1, ACAT2, ACOT13, ADGB, ADTRP, AGER, AGPAT4, AIM1, AK9, AKAP12, AKAP7, AL078585.1, AL583828.1, AL645922.1, ANKRD6, ANKS1A, ARHGAP18, ARID1B, ARMC12, ASCC3, ATAT1, ATF6B, ATXN1, B3GAT2, BAG6, BAI3, BCLAF1, BEND3, BRD2, BTN1A1, BTNL2, BYSL, C4B, C6orf10, C6orf100, C6orf118, C6orf132, C6orf141, C6orf15, C6orf164, C6orf195, C6orf211, C6orf223, C6orf25, C6orf47, C6orf58, C6orf89, CAGE1, CAP2, CCDC170, CCHCR1, CCNC, CCND3, CCR6, CD109, CD2AP, CDSN, CDYL, CENPQ, CEP85L, CFB, CLIC5, CLPSL1, CLPSL2, CNKSR3, CNPY3, COL10A1, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, CPNE5, CRIP3, CRISP3, CTAGE9, CTGF, CUL7, CUL9, CUTA, CYP21A2, CYP39A1, DAAM2, DACT2, DAXX, DCBLD1, DCDC2, DDR1, DDX39B, DDX43, DEF6, DLK2, DLL1, DNAH8, DPCR1, DPPA5, DSE, DSP, DST, DTNBP1, DUSP22, ECT2L, EDN1, EEF1E1, EFHC1, EGFL8, EHMT2, ELOVL2, ENPP1, ENPP3, ENPP5, EPHA7, EPM2A, ERMARD, ESR1, ETV7, EYA4, EYS, F13A1, FAM120B, FAM217A, FAM26D, FAM26F, FAM65B, FAM83B, FAM8A1, FANCE, FARS2, FAXC, FBXL4, FBXO5, FGD2, FHL5, FIG4, FKBP5, FKBPL, FLOT1, FNDC1, FOXC1, FOXF2, FOXO3, FOXQ1, FRMD1, FRS3, FUCA2, FUT9, GABBR1, GABRR1, GABRR2, GCM1, GCNT2, GFRAL, GJB7, GJE1, GLP1R, GLYATL3, GMDS, GMNN, GNL1, GPLD1, GPR110, GPR111, GPR115, GPR116, GPR126, GPR31, GPRC6A, GPX6, GRIK2, GRM1, GRM4, GSTA2, GSTA5, GTF3C6, GUCA1B, HBS1L, HCG27, HCRTR2, HECA, HINT3, HIST1H1A, HIST1H1C, HIST1H1E, HIST1H2AA, HIST1H2AB, HIST1H2BE, HIST1H2BF, HIST1H2BK, HIST1H3C, HIST1H4G, HIST1H4H, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HMGN4, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HUS1B, IBTK, ICK, IER3, IGF2R, IL17F, IL20RA, IMPG1, IP6K3, IPCEF1, IRAK1BP1, IRF4, ITPR3, IYD, JARID2, KCNK16, KCNK17, KCTD20, KDM1B, KHDC3L, KHDRBS2, KIAA0319, KIAA0408, KIAA1009, KIAA1244, KIAA1919, KIF13A, KIF6, KIFC1, KLHL31, KPNA5, L3MBTL3, LAMA2, LAMA4, LCA5, LMBRD1, LPA, LRFN2, LRP11, LRRC16A, LY6G5B, MAK, MAN1A1, MANEA, MAP3K4, MAP3K5, MAP7, MAPK13, MAS1, MAS1L, MB21D1, MCCD1, MCM9, MDC1, MDFI, MDGA1, MDN1, METTL24, MICA, MICAL1, MICB, MLIP, MLLT4, MLN, MMS22L, MOG, MRAP2, MRPL14, MRPL18, MRPS10, MRS2, MTCH1, MTHFD1L, MTO1, MTRF1L, MUC21, MUC22, MUT, MYB, MYLIP, MYLK4, NCOA7, NCR2, NDUFAF4, NEDD9, NFKBIL1, NHLRC1, NHSL1, NKAPL, NOTCH4, NOX3, NQO2, NT5DC1, NT5E, NUP153, OOEP, OPRM1, OR10C1, OR12D2, OR12D3, OR14J1, OR2A4, OR2B6, OR2H1, OR2H2, OR2J1, OR2J2, OR2J3, OR5V1, PAQR8, PARK2, PBX2, PEX6, PGBD1, PGC, PHACTR2, PHF1, PHF3, PHIP, PI16, PKHD1, PLA2G7, PLAGL1, PLG, PNLDC1, PNPLA1, POM121L2, POU3F2, POU5F1, PPARD, PPIL1, PPIL6, PPP1R11, PPP1R14C, PPP1R3G, PPT2, PRDM1, PRDM13, PREP, PRIM2, PRPF4B, PRPH2, PRR18, PRR3, PRRC2A, PRSS35, PSMB1, PSORS1C2, PTCHD4, PTCRA, PTK7, PTPRK, PXDC1, PXT1, QRSL1, RAET1E, RAET1L, RANBP9, RARS2, REPS1, REV3L, RFX6, RIMS1, RING1, RIOK1, RIPK1, RMND1, RNF182, RNF217, RNF39, RNF8, RNGTT, ROS1, RP1-139D8.6, RP11-257K9.8, RPP21, RPS6KA2, RREB1, RRP36, RSPH4A, RSPO3, RXRB, SAMD5, SASH1, SCAND3, SCML4, SDIM1, SEC63, SENP6, SERAC1, SERPINB6, SFT2D1, SFTA2, SHPRH, SKIV2L, SLC17A1, SLC17A3, SLC17A4, SLC22A1, SLC22A16, SLC22A2, SLC22A23, SLC22A3, SLC22A7, SLC25A27, SLC26A8, SLC35B2, SLC35B3, SLC39A7, SLC44A4, SMAP1, SMLR1, SMPD2, SNAP91, SNRNP48, SOBP, SOD2, SPATS1, SPDEF, STXBP5, SUPT3H, SYCP2L, SYNE1, SYNGAP1, SYNJ2, SYTL3, T, TAAR5, TAAR9, TAF8, TAP2, TAPBP, TBC1D22B, TBC1D32, TBC1D7, TBCC, TBP, TCF19, TCP10, TCP10L2, TCP11, TCTE1, TDP2, TDRD6, TFAP2A, TFEB, THBS2, THEMIS, TIAM2, TINAG, TJAP1, TMEM151B, TMEM181, TMEM200A, TMEM244, TNXB, TPBG, TPMT, TRAF3IP2, TRDN, TREML4, TRERF1, TRIM10, TRIM31, TRIM39, TSPYL1, TSPYL4, TTLL2, TUBB2A, TULP1, TULP4, TXLNB, UBD, UBE2J1, UBR2, UFL1, ULBP2, ULBP3, UNC5CL, UNC93A, USP45, USP49, UTRN, VARS, VARS2, VNN1, VNN2, VNN3, WDR27, WDR46, WISP3, WRNIP1, XPO5, ZBTB2, ZBTB22, ZBTB9, ZKSCAN3, ZNF184, ZNF292, ZNF311, ZNF318, ZNF322, ZNF451, ZNRD1, ZSCAN12, ZSCAN31, ZSCAN9, ZUFSP,

+ Genes associated with diseases 122

Genes at Omim

AARS2, ACAT2, ARID1B, ATXN1, BTNL2, C4B, CD2AP, CDSN, CFB, CLIC5, CNPY3, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DSE, DSP, DST, DTNBP1, EDN1, EFHC1, ENPP1, EPM2A, ERMARD, ESR1, EYA4, EYS, F13A1, FANCE, FARS2, FBXL4, FIG4, FKBP5, FOXC1, GCNT2, GMNN, GRIK2, GRM1, GUCA1B, HIST1H1E, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-G, HMGA1, ICK, IGF2R, IL17F, IMPG1, IRF4, ITPR3, IYD, KHDC3L, LAMA2, LAMA4, LCA5, LMBRD1, LPA, MAK, MCM9, MOG, MRAP2, MTO1, MUT, MYB, NDUFAF4, NFKBIL1, NHLRC1, NQO2, NT5E, OR2J3, PEX6, PHIP, PLA2G7, PLG, PNPLA1, PRPH2, RARS2, REPS1, RFX6, RIMS1, RIPK1, RMND1, RSPH4A, SASH1, SEC63, SERAC1, SERPINB6, SKIV2L, SLC17A3, SLC26A8, SLC44A4, SOBP, SOD2, SYNE1, SYNGAP1, T, TAP2, TAPBP, TBC1D7, TBP, TDP2, TFAP2A, 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)
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)
COL10A1	Metaphyseal chondrodysplasia, Schmid type, 156500 (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)
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)
ENPP1	Arterial calcification, generalized, of infancy, 1, 208000 (3) Cole disease, 615522 (3) Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) {Obesity, susceptibility to}, 601665 (3) {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3)
EPM2A	Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)
ERMARD	?Periventricular nodular heterotopia 6, 615544 (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)
EYA4	Deafness, autosomal dominant 10, 601316 (3) ?Cardiomyopathy, dilated, 1J, 605362 (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)
FANCE	Fanconi anemia, complementation group E, 600901 (3)
FARS2	Combined oxidative phosphorylation deficiency 14, 614946 (3) Spastic paraplegia 77, autosomal recessive, 617046 (3)
FBXL4	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (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)
FKBP5	{Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516 (3)
FOXC1	Anterior segment dysgenesis 3, multiple subtypes, 601631 (3) Axenfeld-Rieger syndrome, type 3, 602482 (3)
GCNT2	Adult i phenotype without cataract, 110800 (3) Cataract 13 with adult i phenotype, 116700 (3) [Blood group, Ii], 110800 (3)
GMNN	Meier-Gorlin syndrome 6, 616835 (3)
GRIK2	Mental retardation, autosomal recessive, 6, 611092 (3)
GRM1	Spinocerebellar ataxia 44, 617691 (3) Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)
GUCA1B	Retinitis pigmentosa 48, 613827 (3)
HIST1H1E	Rahman syndrome, 617537 (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-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)
ICK	Endocrine-cerebroosteodysplasia, 612651 (3) {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3)
IGF2R	Hepatocellular carcinoma, somatic, 114550 (3)
IL17F	?Candidiasis, familial, 6, autosomal dominant, 613956 (3)
IMPG1	Macular dystrophy, vitelliform, 4, 616151 (3)
IRF4	[Skin/hair/eye pigmentation, variation in, 8], 611724 (3)
ITPR3	{Diabetes, type 1, susceptibility to}, 222100 (2)
IYD	Thyroid dyshormonogenesis 4, 274800 (3)
KHDC3L	Hydatidiform mole, recurrent, 2, 614293 (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)
MAK	Retinitis pigmentosa 62, 614181 (3)
MCM9	Ovarian dysgenesis 4, 616185 (3)
MOG	?Narcolepsy 7, 614250 (3)
MRAP2	{?Obesity, susceptibility to, BMIQ18}, 615457 (3)
MTO1	Combined oxidative phosphorylation deficiency 10, 614702 (3)
MUT	Methylmalonic aciduria, mut(0) type, 251000 (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)
PEX6	Heimler syndrome 2, 616617 (3) Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3) Peroxisome biogenesis disorder 4B, 614863 (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)
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)
RARS2	Pontocerebellar hypoplasia, type 6, 611523 (3)
REPS1	?Neurodegeneration with brain iron accumulation 7, 617916 (3)
RFX6	Mitchell-Riley syndrome, 615710 (3)
RIMS1	Cone-rod dystrophy 7, 603649 (3)
RIPK1	Immunodeficiency 57, 618108 (3)
RMND1	Combined oxidative phosphorylation deficiency 11, 614922 (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)
SKIV2L	Trichohepatoenteric syndrome 2, 614602 (3)
SLC17A3	{Gout susceptibility 4}, 612671 (3) [Uric acid concentration, serum, QTL4], 612671 (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)
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)
TAP2	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)
TAPBP	Bare lymphocyte syndrome, type I, 604571 (3)
TBC1D7	Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3)
TBP	{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (3)
TDP2	Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
TFAP2A	Branchiooculofacial syndrome, 113620 (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, C4B, CD2AP, CDSN, CFB, CLIC5, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DLL1, DSE, DSP, DST, DTNBP1, EDN1, EFHC1, ENPP1, EPM2A, ERMARD, ESR1, EYA4, EYS, F13A1, FAM65B, FANCE, FARS2, FBXL4, FIG4, FOXC1, GCNT2, GMNN, GRIK2, GRM1, GUCA1B, HLA-A, HLA-B, HSPA1L, ICK, IL17F, IMPG1, IRF4, IYD, KHDC3L, LAMA2, LAMA4, LCA5, LMBRD1, LPA, MAK, MCM9, MOG, MTO1, MUT, NDUFAF4, NHLRC1, NT5E, PARK2, PEX6, PKHD1, PLA2G7, PLAGL1, PLG, PNPLA1, PRPH2, RARS2, RFX6, RIMS1, RMND1, RSPH4A, SEC63, SERAC1, SERPINB6, SKIV2L, SLC26A8, SOBP, SYNE1, SYNGAP1, T, TAP2, TAPBP, TBC1D7, TBP, TDP2, TFAP2A, 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
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
COL10A1	Metaphyseal chondrodysplasia, Schmid type
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
DLL1	Holoprosencephaly
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
ENPP1	Hypophosphatemic rickets, autosomal recessive 2 Arterial calcification, generalized, of infancy, 1
EPM2A	Epilepsy, progressive myoclonic 2A (Lafora)
ERMARD	Periventricular nodular heterotopia 6
ESR1	Estrogen resistance
EYA4	Cardiomyopathy, dilated, 1J
EYS	Retitinis pigmentosa 25
F13A1	Factor XIIIA deficiency
FAM65B	Deafness, autosomal recessive 104
FANCE	Fanconi anemia, complementation group E
FARS2	Combined oxidative phosphorylation deficiency 14
FBXL4	Mitochondrial DNA depletion syndrome 13
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
GCNT2	Blood group, Ii Adult i phenotype without cataract Cataract 13 with adult i phenotype
GMNN	Meier-Gorlin syndrome 6
GRIK2	Mental retardation, autosomal recessive 6
GRM1	Spinocerebellar ataxia, autosomal recessive 13
GUCA1B	Retinitis pigmentosa 48
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
HSPA1L	Abacavir, susceptibility to toxicity with
ICK	Endocrine-cerebroosteodysplasia
IL17F	Candidiasis, familial, 6
IMPG1	Macular dystrophy, vitelliform, 4
IRF4	Skin/hair/eye pigmentation, variation in, 8
IYD	Thyroid dyshormonogenesis 4
KHDC3L	Hydatidiform mole, recurrent, 2
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
MAK	Retinitis pigmentosa 62
MCM9	Ovarian dysgenesis 4
MOG	Narcolepsy 7
MTO1	Combined oxidative phosphorylation deficiency 10
MUT	Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
NDUFAF4	Mitochondrial complex I deficiency
NHLRC1	Epilepsy, progressive myoclonic 2B (Lafora)
NT5E	Calcification of joints and arteries
PARK2	Parkinson disease 2, autosomal recessive juvenile
PEX6	Heimler syndrome 2
PKHD1	Polycystic kidney disease, autosomal recessive
PLA2G7	Platelet-activating factor acetylhydrolase deficiency
PLAGL1	Diabetes mellitus, transient neonatal
PLG	Plasminogen deficiency, type I
PNPLA1	Ichthyosis, congenital, autosomal recessive 10
PRPH2	Choriodal dystrophy, central areolar 2 Retinitis punctata albescens Macular dystrophy, vitelliform 3 Macula dystrophy, patterned 1 Retinitis pigmentosa 7
RARS2	Pontocerebellar hypoplasia, type 6
RFX6	Pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula Martinez-Frias syndrome Mitchell-Riley syndrome
RIMS1	Cone-rod dystrophy 7
RMND1	Combined oxidative phosphorylation deficiency 11
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
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
TAP2	Bare lymphocyte syndrome, type I
TAPBP	Bare lymphocyte syndrome, type I
TBC1D7	Macrocephaly/megalencephaly syndrome, autosomal recessive
TBP	Spinocerebellar ataxia 17
TDP2	Spinocerebellar ataxia, autosomal recessive 23
TFAP2A	Branchiooculofacial sydrome
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: 2692
Number of Genes: 529

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	el-exome_s1	6	rs498512 dbSNP Clinvar	44269193	4410.57	C	T	PASS	1/1	177	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	el-exome_s1	6	rs325008 dbSNP Clinvar	44268371	2528.42	T	C	PASS	1/1	105	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	el-exome_s1	6	rs324136 dbSNP Clinvar	44275011	1360.51	T	C	PASS	1/1	59	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	el-exome_s1	6	rs2125739 dbSNP Clinvar	43412865	293.18	T	C	PASS	0/1	33	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.20008	0.20010	0.27603	0.52	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	el-exome_s1	6	rs72545970,rs4148252 dbSNP Clinvar	30558477	212.76	G	GA	LowGQ;LowGQX	1/1	6	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	el-exome_s1	6	rs1475865 dbSNP Clinvar	31657413	172.96	T	C	PASS	0/1	36	SYNONYMOUS_CODING	LOW	None	0.81609	0.81610	0.27590				None None	None None None None	ABHD16A\|0.218787308\|34.5%
ABRACL
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	el-exome_s1	6	rs200480448 dbSNP Clinvar	139355304	761.01	G	A	PASS	0/1	73	NON_SYNONYMOUS_CODING	MODERATE	None			0.00017	0.02	0.99		None None	None None None None	ABRACL\|0.031422661\|68.83%
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	el-exome_s1	6	rs3800302 dbSNP Clinvar	26597333	4014.25	A	G	PASS	1/1	167	SYNONYMOUS_CODING	LOW	None	0.70867	0.70870	0.35268				None None	None None None None	ABT1\|0.032342215\|68.44%
	View	el-exome_s1	6	rs3800303 dbSNP Clinvar	26598188	259.89	A	G	PASS	0/1	29	SYNONYMOUS_CODING	LOW	None	0.51617	0.51620	0.43918				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	el-exome_s1	6	rs25683 dbSNP Clinvar	160196343	473.77	A	G	PASS	1/1	19	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.36522	0.36520	0.45433	0.04	0.82		None None	None None None None	ACAT2\|0.090493467\|53.12%
	View	el-exome_s1	6	rs3465 dbSNP Clinvar	160198395	739.72	G	A	PASS	0/1	102	SYNONYMOUS_CODING	LOW	None	0.23522	0.23520	0.31955				None None	None None None None	ACAT2\|0.090493467\|53.12%
ACOT13
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	el-exome_s1	6	rs7765904 dbSNP Clinvar	24698215	215.29	G	A	PASS	0/1	33	SYNONYMOUS_CODING	LOW	None	0.14736	0.14740	0.22290				None None	None None None None	ACOT13\|0.032154156\|68.53%
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	el-exome_s1	6	rs9497606 dbSNP Clinvar	146993445	545.39	T	C	PASS	0/1	82	NON_SYNONYMOUS_CODING	MODERATE	None	0.28415	0.28410	0.25975	0.36	0.04		None None	None None None None	ADGB\|0.008962502\|81.7%