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Genes:
AARS2, ABHD16A, ABT1, ACAT2, ACOT13, ADGB, ADTRP, AGER, AIM1, AK9, AKAP12, AKAP7, AL078585.1, AL583828.1, AL645922.1, ALDH5A1, ANKRD6, ANKS1A, ARHGAP18, ASCC3, ATF6B, ATXN1, BACH2, BAG6, BAI3, BCLAF1, BEND3, BMP6, BRD2, BTN1A1, BYSL, C2, C4B, C6orf1, C6orf10, C6orf120, C6orf132, C6orf141, C6orf15, C6orf164, C6orf195, C6orf201, C6orf229, C6orf47, C6orf89, CAGE1, CAPN11, CCDC170, CCHCR1, CCR6, CD109, CD2AP, CD83, CDKAL1, CDKN1A, CDSN, CDYL, CENPW, CEP85L, CFB, CLDN20, CLPSL1, CNKSR3, COL10A1, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, CPNE5, CRIP3, CRISP2, CRISP3, CTGF, CUL7, CUL9, CYP21A2, CYP39A1, DAAM2, DACT2, DAXX, DCBLD1, DCDC2, DDAH2, DDO, DDR1, DDX39B, DDX43, DEF6, DEK, DNAH8, DPCR1, DSE, DSP, DST, DUSP22, ECI2, ECT2L, EDN1, EHMT2, ELOVL2, ELOVL4, ENPP1, ENPP3, ENPP4, ENPP5, EPHA7, ERMARD, ERVFRD-1, ESR1, EXOC2, EYA4, EYS, FAM120B, FAM217A, FAM26D, FAM26F, FAM65B, FAM83B, FAM8A1, FANCE, FARS2, FAXC, FBXL4, FBXO5, FGD2, FHL5, FIG4, FNDC1, FOXP4, FRK, FRMD1, FUCA2, FUT9, GABRR1, GABRR2, GCNT2, GFRAL, GINM1, GJE1, GLP1R, GLYATL3, GMPR, GNMT, GPLD1, GPR111, GPR115, GPR116, GPR126, GPRC6A, GRIK2, GRM1, GSTA2, GSTA5, GTF2H4, GUCA1B, HACE1, HBS1L, HCG27, HCRTR2, HECA, HIST1H1A, HIST1H1C, HIST1H1T, HIST1H2AA, HIST1H2AB, HIST1H2BE, HIST1H2BF, HIST1H2BK, HIST1H3C, HIST1H4C, HIST1H4H, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMB, HLA-DOA, HLA-DOB, 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, HMGN4, HS3ST5, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HTR1B, HUS1B, ICK, IER3, IFNGR1, IGF2R, IL20RA, IMPG1, IP6K3, IRAK1BP1, ITPR3, IYD, KATNA1, KCNK16, KCNK17, KCNK5, KDM1B, KHDC1L, KHDC3L, KHDRBS2, KIAA0319, KIAA0408, KIAA1919, KIF13A, KIF6, KLHL31, KPNA5, L3MBTL3, LAMA2, LAMA4, LATS1, LCA5, LEMD2, LIN28B, LPA, LRFN2, LRP11, LRRC16A, LTA, LTV1, LY6G5C, LY6G6E, LYRM2, MAN1A1, MAP3K4, MAP3K5, MAPK13, MB21D1, MCCD1, MCM3, MCM9, MDC1, MDGA1, MDN1, ME1, MICA, MICAL1, MICB, MLIP, MLLT4, MLN, MMS22L, MOG, MRPL14, MRPL18, MSH5, MTHFD1L, MTO1, MTRF1L, MUC21, MUC22, MUT, MYLIP, MYLK4, NCOA7, NCR2, NCR3, NDUFAF4, NEDD9, NEU1, NHSL1, NKAIN2, NKAPL, NOTCH4, NOX3, NQO2, NT5E, NUP153, NUP43, OOEP, OPRM1, OR10C1, OR12D1, OR12D2, OR12D3, OR14J1, OR2A4, OR2B6, OR2H1, OR2H2, OR2J1, OR2J2, OR2J3, OR5V1, PARK2, PCMT1, PEX6, PGBD1, PHF1, PHF10, PHIP, PI16, PKHD1, PLA2G7, PLAGL1, PLEKHG1, PLG, PNLDC1, PNPLA1, POM121L2, POU3F2, PPARD, PPP1R18, PPP1R3G, PPT2, PRDM1, PREP, PRICKLE4, PRIM2, PRPF4B, PRPH2, PRR18, PRR3, PRRC2A, PRSS35, PSMB1, PSMG4, PSORS1C2, PTPRK, PXDC1, PXT1, QRSL1, RAB44, RAET1E, RAET1L, RANBP9, RCAN2, REV3L, RFX6, RIMS1, RIPK1, RNASET2, RNF217, RNF8, ROS1, RP1-139D8.6, RPP21, RPS6KA2, RREB1, RRP36, RSPH3, RSPH4A, RSPH9, RSPO3, RTN4IP1, RXRB, SAMD5, SASH1, SCGN, SCML4, SDIM1, SEC63, SENP6, SERAC1, SERPINB6, SFT2D1, SFTA2, SGK1, SHPRH, SIRT5, SKIV2L, SLC17A4, SLC22A1, SLC22A23, SLC25A27, SLC26A8, SLC2A12, SLC35B2, SLC35B3, SLC44A4, SMAP1, SMIM13, SMLR1, SMPD2, SNAP91, SNRNP48, SNRPC, SOD2, SPATS1, SRPK1, SSR1, STX11, STXBP5, SUMO4, SYCP2L, SYNE1, SYNJ2, SYTL3, TAAR1, TAAR2, TAAR5, TAAR9, TAF8, TAPBP, TBC1D22B, TBC1D7, TBCC, TBP, TBX18, TCF19, TCP10, TCP10L2, TCP11, TCTE1, TDP2, TDRD6, TFEB, THBS2, THEMIS, TIAM2, TINAG, TJAP1, TMEM151B, TMEM170B, TMEM200A, TMEM244, TMEM63B, TNXB, TPBG, TPMT, TRDN, TREML4, TRERF1, TRIM10, TRIM15, TRIM31, TRIM39, TSPYL1, TSPYL4, TTK, TTLL2, TULP1, TULP4, TXLNB, UBD, UBE2J1, UBR2, UHRF1BP1, ULBP2, UNC93A, USP45, USP49, UTRN, VARS2, VNN1, VNN2, VNN3, VWA7, WDR46, WTAP, XPO5, ZBTB2, ZBTB22, ZBTB9, ZC3H12D, ZDHHC14, ZNF184, ZNF318, ZNF76,

+ Genes associated with diseases 108

Genes at Omim

AARS2, ACAT2, ALDH5A1, ATXN1, C2, C4B, CD2AP, CDSN, CFB, COL10A1, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DEK, DSE, DSP, DST, EDN1, ELOVL4, ENPP1, ERMARD, ESR1, EYA4, EYS, FANCE, FARS2, FBXL4, FIG4, GCNT2, GNMT, GRIK2, GRM1, GUCA1B, HACE1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-G, HMGA1, ICK, IFNGR1, IGF2R, IMPG1, ITPR3, IYD, KHDC3L, LAMA2, LAMA4, LCA5, LEMD2, LPA, LTA, MCM9, MOG, MSH5, MTO1, MUT, NCR3, NDUFAF4, NEU1, NQO2, NT5E, OR2J3, PEX6, PHIP, PLA2G7, PLG, PNPLA1, PRPH2, RFX6, RIMS1, RIPK1, RNASET2, RSPH3, RSPH4A, RSPH9, RTN4IP1, SASH1, SEC63, SERAC1, SERPINB6, SKIV2L, SLC26A8, SLC44A4, SOD2, STX11, SUMO4, SYNE1, TAPBP, TBC1D7, TBP, TBX18, TDP2, THBS2, TNXB, TPMT, TRDN, TSPYL1, TULP1, VARS2, VNN1,

AARS2	Combined oxidative phosphorylation deficiency 8, 614096 (3) Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ACAT2	?ACAT2 deficiency, 614055 (1)
ALDH5A1	Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
ATXN1	Spinocerebellar ataxia 1, 164400 (3)
C2	C2 deficiency, 217000 (3) {Macular degeneration, age-related, 14, reduced risk of}, 615489 (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)
COL10A1	Metaphyseal chondrodysplasia, Schmid type, 156500 (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)
EDN1	{High density lipoprotein cholesterol level QTL 7} (3) Auriculocondylar syndrome 3, 615706 (3) Question mark ears, isolated, 612798 (3)
ELOVL4	Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3) Spinocerebellar ataxia 34, 133190 (3) Stargardt disease 3, 600110 (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)
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)
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)
GCNT2	Adult i phenotype without cataract, 110800 (3) Cataract 13 with adult i phenotype, 116700 (3) [Blood group, Ii], 110800 (3)
GNMT	Glycine N-methyltransferase deficiency, 606664 (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)
HACE1	Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (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)
ICK	Endocrine-cerebroosteodysplasia, 612651 (3) {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (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)
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)
LEMD2	Cataract 46, juvenile-onset, 212500 (3)
LPA	[LPA deficiency, congenital] (3) {Coronary artery disease, susceptibility to} (1)
LTA	{Leprosy, susceptibility to, 4}, 610988 (3) {Myocardial infarction, susceptibility to}, 608446 (3) {Psoriatic arthritis, susceptibility to}, 607507 (3)
MCM9	Ovarian dysgenesis 4, 616185 (3)
MOG	?Narcolepsy 7, 614250 (3)
MSH5	?Premature ovarian failure 13, 617442 (3)
MTO1	Combined oxidative phosphorylation deficiency 10, 614702 (3)
MUT	Methylmalonic aciduria, mut(0) type, 251000 (3)
NCR3	{Malaria, mild, susceptibility to}, 609148 (3)
NDUFAF4	Mitochondrial complex I deficiency, nuclear type 15, 618237 (3)
NEU1	Sialidosis, type I, 256550 (3) Sialidosis, type II, 256550 (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)
RFX6	Mitchell-Riley syndrome, 615710 (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)
RSPH9	Ciliary dyskinesia, primary, 12, 612650 (3)
RTN4IP1	Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (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)
SLC26A8	Spermatogenic failure 3, 606766 (3)
SLC44A4	?Deafness, autosomal dominant 72, 617606 (3)
SOD2	{Microvascular complications of diabetes 6}, 612634 (3)
STX11	Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (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)
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)
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)
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)
TULP1	Leber congenital amaurosis 15, 613843 (3) Retinitis pigmentosa 14, 600132 (3)
VARS2	Combined oxidative phosphorylation deficiency 20, 615917 (3)
VNN1	[High density lipoprotein cholesterol level QTL 8] (3)

Genes at Clinical Genomics Database

AARS2, ALDH5A1, ATXN1, C2, C4B, CD2AP, CDSN, CFB, COL10A1, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DSE, DSP, DST, EDN1, ELOVL4, ENPP1, ERMARD, ESR1, EYA4, EYS, FAM65B, FANCE, FARS2, FBXL4, FIG4, GCNT2, GNMT, GRIK2, GRM1, GUCA1B, HACE1, HLA-A, HLA-B, HSPA1L, ICK, IFNGR1, IMPG1, IYD, KHDC3L, LAMA2, LAMA4, LCA5, LPA, MCM9, MOG, MTO1, MUT, NDUFAF4, NEU1, NT5E, PARK2, PEX6, PKHD1, PLA2G7, PLAGL1, PLG, PNPLA1, PRPH2, RFX6, RIMS1, RNASET2, RSPH3, RSPH4A, RSPH9, RTN4IP1, SEC63, SERAC1, SERPINB6, SKIV2L, SLC26A8, STX11, SYNE1, TAPBP, TBC1D7, TBP, TBX18, TDP2, TNXB, TPMT, TRDN, TSPYL1, TULP1, VARS2,

AARS2	Leukoencephalopathy, progressive, with ovarian failure
ALDH5A1	Succinic semialdehyde dehydrogenase deficiency
ATXN1	Spinocerebellar ataxia 1
C2	Complement component 2 deficiency
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
COL10A1	Metaphyseal chondrodysplasia, Schmid type
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
EDN1	Dominant Isolated Question-Mark Ears Auriculocondylar Syndrome 3
ELOVL4	Icthyosis, spastic quadriplegia, and mental retardation Spinocerebellar ataxia 34 Startgardt disease 3
ENPP1	Hypophosphatemic rickets, autosomal recessive 2 Arterial calcification, generalized, of infancy, 1
ERMARD	Periventricular nodular heterotopia 6
ESR1	Estrogen resistance
EYA4	Cardiomyopathy, dilated, 1J
EYS	Retitinis pigmentosa 25
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
GCNT2	Blood group, Ii Adult i phenotype without cataract Cataract 13 with adult i phenotype
GNMT	Glycine N-methyltransferase deficiency
GRIK2	Mental retardation, autosomal recessive 6
GRM1	Spinocerebellar ataxia, autosomal recessive 13
GUCA1B	Retinitis pigmentosa 48
HACE1	Spastic paraplegia and psychomotor retardation with or without seizures
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
HSPA1L	Abacavir, susceptibility to toxicity with
ICK	Endocrine-cerebroosteodysplasia
IFNGR1	Immunodeficiency 27B Immunodeficiency 27A
IMPG1	Macular dystrophy, vitelliform, 4
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
LPA	Lipoprotein A deficiency, congenital
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
NEU1	Sialidosis, type I Sialidosis, type II
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
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
RNASET2	Leukoencephalopathy, cystic, without megalencephaly
RSPH3	Ciliary dyskinesia, primary, 32
RSPH4A	Ciliary dyskinesia, primary, 11
RSPH9	Ciliary dyskinesia, primary, 12
RTN4IP1	Optic atrophy 10 with or without ataxia, mental retardation, and seizures
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
STX11	Hemophagocytic lymphohistiocytosis, familial, 4
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8
TAPBP	Bare lymphocyte syndrome, type I
TBC1D7	Macrocephaly/megalencephaly syndrome, autosomal recessive
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
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
TULP1	Leber congenital amaurosis 15 Retinitis pigmentosa 14
VARS2	Combined oxidative phosphorylation deficiency 20

Genes at HGMD

Summary

Number of Variants: 5325
Number of Genes: 478

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	75_filt_10x	6	rs498512 dbSNP Clinvar	44269193	432.77	C	T	PASS	1/1	18	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	75_filt_10x	6	rs325008 dbSNP Clinvar	44268371	696.77	T	C	PASS	1/1	29	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	75_filt_10x	6	rs324136 dbSNP Clinvar	44275011	504.77	T	C	PASS	1/1	19	NON_SYNONYMOUS_CODING	MODERATE	None	0.88898	0.88900	0.11341	0.96	0.00	-0.56	None None	None None None None	TMEM151B\|0.178433912\|39.22%,AARS2\|0.089485788\|53.33%
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	75_filt_10x	6	rs1475865 dbSNP Clinvar	31657413	573.77	T	C	PASS	1/1	25	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	75_filt_10x	6	rs3800303 dbSNP Clinvar	26598188	864.77	A	G	PASS	1/1	32	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	75_filt_10x	6	rs3464 dbSNP Clinvar	160198359	166.77	C	T	PASS	0/1	22	SYNONYMOUS_CODING	LOW	None	0.26118	0.26120	0.17992				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	75_filt_10x	6	rs7765904 dbSNP Clinvar	24698215	333.77	G	A	PASS	0/1	38	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	75_filt_10x	6	rs9497606 dbSNP Clinvar	146993445	227.77	T	C	PASS	0/1	20	NON_SYNONYMOUS_CODING	MODERATE	None	0.28415	0.28410	0.25975	0.36	0.04	-0.67	None None	None None None None	ADGB\|0.008962502\|81.7%
	View	75_filt_10x	6	rs9647637 dbSNP Clinvar	147067093	431.77	C	T	PASS	0/1	41	SYNONYMOUS_CODING	LOW	None	0.16054	0.16050	0.21485				None None	None None None None	ADGB\|0.008962502\|81.7%
	View	75_filt_10x	6	rs143904280 dbSNP Clinvar	147054330	173.77	A	C	PASS	0/1	31	SYNONYMOUS_CODING	LOW	None	0.00180	0.00180					None None	None None None None	ADGB\|0.008962502\|81.7%
	View	75_filt_10x	6	rs259391 dbSNP Clinvar	147106841	263.77	A	G	PASS	0/1	31	SYNONYMOUS_CODING	LOW	None	0.54752	0.54750	0.45749				None None	None None None None	ADGB\|0.008962502\|81.7%
	View	75_filt_10x	6	rs1052444 dbSNP Clinvar	147136212	111.77	A	T	PASS	0/1	16	NON_SYNONYMOUS_CODING	MODERATE	None	0.40435	0.40440	0.28922	0.05	0.99	2.24	None None	None None None None	ADGB\|0.008962502\|81.7%
	View	75_filt_10x	6	rs259370 dbSNP Clinvar	147136244	397.77	A	G	PASS	1/1	15	NON_SYNONYMOUS_CODING	MODERATE	None	0.73143	0.73140	0.34626	1.00	0.00	-1.40	None None	None None None None	ADGB\|0.008962502\|81.7%
ADTRP
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	75_filt_10x	6	rs2076185 dbSNP Clinvar	11723636	161.77	C	T	PASS	0/1	11	NON_SYNONYMOUS_CODING	MODERATE	None	0.15755	0.15750	0.04275	1.00	0.00	-1.35	None None	None None None None	ADTRP\|0.023894479\|72.25%
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	75_filt_10x	6	rs2070600 dbSNP Clinvar	32151443	169.77	C	T	PASS	0/1	21	NON_SYNONYMOUS_CODING	MODERATE	None	0.07248	0.07248	0.03488	0.22	1.00	5.09	None None	None None None None	RNF5\|0.294853718\|28.05%,AGER\|0.358118947\|23.58%
	View	75_filt_10x	6	rs1800684 dbSNP Clinvar	32151994	461.77	A	T	PASS	1/1	19	SYNONYMOUS_CODING	LOW	None	0.96426	0.96430	0.09633				None None	None None None None	AGER\|0.358118947\|23.58%