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Genes:
AARS2, ABCF1, ABHD16A, ABT1, ACAT2, ACOT13, AGER, AGPAT4, AIM1, AK9, AKAP12, ALDH5A1, ANKRD6, ANKS1A, ARHGAP18, ARID1B, ARMC12, ASCC3, ATXN1, B3GAT2, BACH2, BAI3, BCLAF1, BEND3, BMP5, BMP6, BRD2, BTN1A1, BTNL2, BYSL, C6ORF165, C6orf1, C6orf10, C6orf15, C6orf195, C6orf201, C6orf222, C6orf223, C6orf47, CAGE1, CAP2, CCDC170, CCDC28A, CCHCR1, CCND3, CCR6, CD109, CD2AP, CDSN, CDYL, CENPQ, CEP85L, CFB, CLPS, CLPSL1, CNKSR3, CNR1, COL10A1, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, CPNE5, CRIP3, CRISP3, CUL7, CUL9, CUTA, CYP39A1, DAAM2, DAXX, DCDC2, DDR1, DDX39B, DDX43, DEF6, DEFB114, DEK, DLK2, DNAH8, DPCR1, DSE, DSP, DST, DUSP22, EDN1, EGFL8, ENPP4, ENPP5, EPHA7, EPM2A, ERMARD, ESR1, EYA4, EYS, F13A1, FAM120B, FAM135A, FAM162B, FAM217A, FAM83B, FANCE, FBXO30, FBXO5, FHL5, FNDC1, FRK, FRMD1, FUCA2, FUT9, GABRR1, GABRR2, GCNT2, GFRAL, GJB7, GLO1, GLP1R, GMDS, GMPR, GNL1, GPANK1, GPLD1, GPR111, GPR115, GPR116, GPR126, GPR31, GPR63, GPRC6A, GPX5, GPX6, GRIK2, GRM1, GSTA1, GSTA4, GSTA5, GUCA1B, HACE1, HCRTR2, HECA, HIST1H1C, HIST1H1T, HIST1H2AA, HIST1H2AB, HIST1H2AC, HIST1H2BA, HIST1H2BE, HIST1H3C, HIST1H4B, HIST1H4C, HIST1H4H, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA2, HLA-DQB1, HLA-DRA, HLA-E, HLA-F, HLA-G, HMGCLL1, HMGN4, HS3ST5, HSPA1L, HTR1B, HUS1B, ICK, IER3, IFNGR1, IGF2R, IL20RA, IMPG1, IP6K3, ITPR3, JARID2, KCNQ5, KDM1B, KHDC3L, KHDRBS2, KIAA0319, KIAA0408, KIAA1009, KIAA1919, KIF13A, KLHL31, L3MBTL3, LAMA2, LAMA4, LCA5, LMBRD1, LPA, LRRC16A, LTA, LTV1, MAK, MAN1A1, MAP3K4, MAP3K5, MAP7, MAPK13, MB21D1, MCCD1, MCM3, MCM9, MDGA1, MDN1, ME1, MEP1A, MICAL1, MICB, MLIP, MLLT4, MLN, MMS22L, MOG, MPC1, MRPL14, MRPL18, MRS2, MSH5, MTHFD1L, MTRF1L, MUC21, MUT, MYCT1, MYLIP, MYLK4, MYO6, NCR2, NDUFAF4, NEDD9, NFKBIL1, NHLRC1, NKAPL, NOTCH4, NOX3, NQO2, NT5E, NUP153, OFCC1, OOEP, OPRM1, OR10C1, OR11A1, OR12D2, OR12D3, OR14J1, OR2H2, OR2J2, OR2J3, OR5V1, PARK2, PDE10A, PERP, PGBD1, PHF1, PHIP, PI16, PKHD1, PLA2G7, PLEKHG1, PLG, PNLDC1, PNPLA1, POU3F2, POU5F1, PPARD, PPP1R11, PPP1R18, PPT2, PREP, PRICKLE4, PRIM2, PRPH2, PRR18, PRR3, PRRC2A, PRSS35, PSMB1, PSMB8, PSMB9, PSORS1C2, PTCHD4, PTCRA, PTPRK, PXDC1, PXT1, QRSL1, RAET1E, RAET1L, RARS2, REV3L, RFPL4B, RFX6, RGS17, RIMS1, RIPK1, RNF39, RNF5, ROS1, RPP21, RPP40, RPS6KA2, RREB1, RSPH4A, RSPO3, RXRB, SASH1, SCAND3, SEC63, SENP6, SERAC1, SERINC1, SERPINB6, SFT2D1, SFTA2, SHPRH, SIRT5, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC22A1, SLC22A16, SLC22A2, SLC22A23, SLC22A3, SLC22A7, SLC25A27, SLC26A8, SLC29A1, SLC35B2, SMIM8, SMPDL3A, SNRPC, SNX9, SOD2, SPATS1, SRPK1, SSR1, STXBP5, SUMO4, SUPT3H, SYCP2L, SYNE1, SYNJ2, SYTL3, TAAR5, TAAR6, TAAR9, TAF8, TAP2, TAPBP, TBC1D22B, TBC1D32, TBCC, TBP, TCF19, TCTE1, TCTE3, TDP2, TDRD6, TFAP2D, TFB1M, TFEB, THBS2, THEMIS, TIAM2, TINAG, TMEM200A, TMEM242, TMEM244, TNXB, TPBG, TPMT, TRAF3IP2, TRDN, TREM1, TREML2, TREML4, TRERF1, TRIM10, TRIM26, TRIM27, TRIM31, TRIM38, TSPYL1, TSPYL4, TTBK1, TTK, TTLL2, TULP1, TULP4, UBD, UBR2, UFL1, UHRF1BP1, UNC5CL, USP45, USP49, UTRN, VARS, VARS2, VNN1, VNN2, VNN3, VPS52, VWA7, WDR46, XPO5, ZBTB2, ZBTB22, ZBTB9, ZFP57, ZKSCAN3, ZNF184, ZNF292, ZNF311, ZNF318, ZNF76, ZSCAN31, ZUFSP,

+ Genes associated with diseases 101

Genes at Omim

AARS2, ACAT2, ALDH5A1, ARID1B, ATXN1, BTNL2, CD2AP, CDSN, CFB, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, DCDC2, DEK, DSE, DSP, DST, EDN1, EPM2A, ERMARD, ESR1, EYA4, EYS, F13A1, FANCE, GCNT2, GRIK2, GRM1, GUCA1B, HACE1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DPB1, HLA-DQB1, HLA-G, ICK, IFNGR1, IGF2R, IMPG1, ITPR3, KCNQ5, KHDC3L, LAMA2, LAMA4, LCA5, LMBRD1, LPA, LTA, MAK, MCM9, MOG, MSH5, MUT, MYO6, NDUFAF4, NFKBIL1, NHLRC1, NQO2, NT5E, OR2J3, PDE10A, PHIP, PLA2G7, PLG, PNPLA1, PRPH2, PSMB8, PSMB9, RARS2, RFX6, RIMS1, RIPK1, RSPH4A, SASH1, SEC63, SERAC1, SERPINB6, SLC17A3, SLC26A8, SOD2, SUMO4, SYNE1, TAP2, TAPBP, TBP, TDP2, THBS2, TNXB, TPMT, TRAF3IP2, TRDN, TSPYL1, TULP1, VARS, VARS2, VNN1, ZFP57,

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)
ARID1B	Coffin-Siris syndrome 1, 135900 (3)
ATXN1	Spinocerebellar ataxia 1, 164400 (3)
BTNL2	{Sarcoidosis, susceptibility to, 2}, 612387 (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)
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)
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)
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)
GCNT2	Adult i phenotype without cataract, 110800 (3) Cataract 13 with adult i phenotype, 116700 (3) [Blood group, Ii], 110800 (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-DQB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Celiac disease, susceptibility to}, 212750 (3) {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
HLA-G	{Asthma, susceptibility to}, 600807 (2)
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)
KCNQ5	Mental retardation, autosomal dominant 46, 617601 (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)
LTA	{Leprosy, susceptibility to, 4}, 610988 (3) {Myocardial infarction, susceptibility to}, 608446 (3) {Psoriatic arthritis, susceptibility to}, 607507 (3)
MAK	Retinitis pigmentosa 62, 614181 (3)
MCM9	Ovarian dysgenesis 4, 616185 (3)
MOG	?Narcolepsy 7, 614250 (3)
MSH5	?Premature ovarian failure 13, 617442 (3)
MUT	Methylmalonic aciduria, mut(0) type, 251000 (3)
MYO6	Deafness, autosomal dominant 22, 606346 (3) Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3) Deafness, autosomal recessive 37, 607821 (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)
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)
PSMB8	Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 (3)
PSMB9	?Proteasome-associated autoinflammatory syndrome 3, digenic, 617591 (3)
RARS2	Pontocerebellar hypoplasia, type 6, 611523 (3)
RFX6	Mitchell-Riley syndrome, 615710 (3)
RIMS1	Cone-rod dystrophy 7, 603649 (3)
RIPK1	Immunodeficiency 57, 618108 (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)
SLC17A3	{Gout susceptibility 4}, 612671 (3) [Uric acid concentration, serum, QTL4], 612671 (3)
SLC26A8	Spermatogenic failure 3, 606766 (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)
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)
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)
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)
ZFP57	Diabetes mellitus, transient neonatal, 1, 601410 (3)

Genes at Clinical Genomics Database

AARS2, ALDH5A1, ARID1B, ATXN1, CD2AP, CDSN, CFB, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, DCDC2, DSE, DSP, DST, EDN1, EPM2A, ERMARD, ESR1, EYA4, EYS, F13A1, FANCE, GCNT2, GRIK2, GRM1, GUCA1B, HACE1, HLA-A, HLA-B, HSPA1L, ICK, IFNGR1, IMPG1, KHDC3L, LAMA2, LAMA4, LCA5, LMBRD1, LPA, MAK, MCM9, MOG, MPC1, MUT, MYO6, NDUFAF4, NHLRC1, NT5E, PARK2, PDE10A, PKHD1, PLA2G7, PLG, PNPLA1, PRPH2, PSMB8, RARS2, RFX6, RIMS1, RSPH4A, SEC63, SERAC1, SERPINB6, SLC26A8, SYNE1, TAP2, TAPBP, TBP, TDP2, TNXB, TPMT, TRAF3IP2, TRDN, TSPYL1, TULP1, VARS2, ZFP57,

AARS2	Leukoencephalopathy, progressive, with ovarian failure
ALDH5A1	Succinic semialdehyde dehydrogenase deficiency
ARID1B	Mental retardation, autosomal dominant, 12 Coffin-Siris syndrome 1
ATXN1	Spinocerebellar ataxia 1
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
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
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
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
FANCE	Fanconi anemia, complementation group E
GCNT2	Blood group, Ii Adult i phenotype without cataract Cataract 13 with adult i phenotype
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
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
MPC1	Mitochondrial pyruvate carrier deficiency
MUT	Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
MYO6	Deafness, autosomal recessive 37
NDUFAF4	Mitochondrial complex I deficiency
NHLRC1	Epilepsy, progressive myoclonic 2B (Lafora)
NT5E	Calcification of joints and arteries
PARK2	Parkinson disease 2, autosomal recessive juvenile
PDE10A	Striatal degeneration, autosomal dominant 2 Infantile-onset dyskinesia
PKHD1	Polycystic kidney disease, autosomal recessive
PLA2G7	Platelet-activating factor acetylhydrolase deficiency
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
PSMB8	Nakajo-Nishimura syndrome Autoinflammation, lipodystrophy, and dermatosis syndrome Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
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
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
SLC26A8	Spermatogenic failure 3
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8
TAP2	Bare lymphocyte syndrome, type I
TAPBP	Bare lymphocyte syndrome, type I
TBP	Spinocerebellar ataxia 17
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
TULP1	Leber congenital amaurosis 15 Retinitis pigmentosa 14
VARS2	Combined oxidative phosphorylation deficiency 20
ZFP57	Diabetes mellitus, transient neonatal, 1

Genes at HGMD

Summary

Number of Variants: 1655
Number of Genes: 431

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	anemia	6	rs325008 dbSNP Clinvar	44268371	3432.13	T	C	Mask	1/1	114	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	anemia	6	rs498512 dbSNP Clinvar	44269193	5885.33	C	T	Mask	1/1	191	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	anemia	6	rs324136 dbSNP Clinvar	44275011	1953.51	T	C	Mask	1/1	67	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%
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	anemia	6	rs72545970,rs4148252 dbSNP Clinvar	30558477	2639.34	G	GA	Mask	0/1	132	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	anemia	6	rs1475865 dbSNP Clinvar	31657413	1030.08	T	C	Mask	0/1	61	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	anemia	6	rs3800302 dbSNP Clinvar	26597333	1470.29	A	G	Mask	1/1	46	SYNONYMOUS_CODING	LOW	None	0.70867	0.70870	0.35268				None None	None None None None	ABT1\|0.032342215\|68.44%
	View	anemia	6	rs3800303 dbSNP Clinvar	26598188	2831.92	A	G	Mask	1/1	87	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	anemia	6	rs25683 dbSNP Clinvar	160196343	2567.01	A	G	Mask	1/1	85	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	anemia	6	rs3465 dbSNP Clinvar	160198395	1532.33	G	A	Mask	0/1	105	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	anemia	6	rs7765904 dbSNP Clinvar	24698215	1480.99	G	A	Mask	0/1	113	SYNONYMOUS_CODING	LOW	None	0.14736	0.14740	0.22290				None None	None None None None	ACOT13\|0.032154156\|68.53%
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	anemia	6	rs1800684 dbSNP Clinvar	32151994	772.87	A	T	Mask	1/1	24	SYNONYMOUS_CODING	LOW	None	0.96426	0.96430	0.09633				None None	None None None None	AGER\|0.358118947\|23.58%
AGPAT4
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	anemia	6	rs3734462 dbSNP Clinvar	161557662	1221.72	G	A	Mask	0/1	98	SYNONYMOUS_CODING	LOW	None	0.13718	0.13720	0.14186				None None	None None None None	AGPAT4\|0.05231474\|61.98%
AIM1
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	anemia	6	rs2297970 dbSNP Clinvar	106999822	4254.16	G	A	Mask	1/1	140	NON_SYNONYMOUS_CODING	MODERATE	None	0.19908	0.19910	0.25277	0.42	0.44		None None	None None None None	AIM1\|0.106090951\|49.97%