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Genes:
ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, ABHD11, AC005008.2, AC008060.7, AC011294.3, AC073343.1, AC074389.6, AC091801.1, AC099552.4, AC110781.3, ACHE, ACTR3C, ADAM22, ADAP1, ADCK2, ADCY1, AEBP1, AGAP3, AGBL3, AGFG2, AGMO, AGR2, AHCYL2, AKAP9, AKR1B10, AKR1B15, ALKBH4, AMPH, AMZ1, ANKIB1, ANKMY2, ANKRD61, ANLN, AOAH, AOC1, AP5Z1, ARHGEF35, ARHGEF5, ASB10, ASB15, ASIC3, ASNS, ATG9B, ATP6V0A4, ATP6V0E2, AUTS2, AVL9, AZGP1, BAIAP2L1, BBS9, BLACE, BLVRA, BMPER, BRAF, BRAT1, C7orf13, C7orf25, C7orf26, C7orf31, C7orf33, C7orf34, C7orf57, C7orf62, C7orf63, C7orf69, C7orf71, C7orf72, CADPS2, CALCR, CALD1, CALU, CAMK2B, CARD11, CAV1, CCDC129, CCDC132, CCDC136, CCDC146, CCM2, CCT6A, CCZ1B, CDHR3, CFTR, CHN2, CHPF2, CLCN1, CLDN15, CLDN3, CLIP2, CNOT4, CNTNAP2, COBL, COG5, COL1A2, COL26A1, COL28A1, CPA1, CPA2, CPA4, CPA5, CPED1, CPVL, CREB3L2, CRYGN, CTAGE15, CTAGE4, CTAGE6, CTAGE8, CUX1, CYP2W1, CYP3A43, CYP3A7, CYP51A1, CYTH3, DAGLB, DDC, DDX56, DENND2A, DFNA5, DGKB, DLX6, DMTF1, DNAH11, DNAJB6, DNAJC30, DPP6, DPY19L1, DTX2, EEPD1, EGFR, EIF2AK1, ELFN1, ELMO1, ELN, EPDR1, EPHA1, EPHB4, EPHB6, ERV3-1, ERVW-1, ETV1, EXOC4, FAM131B, FAM185A, FAM188B, FAM20C, FAM220A, FAM71F1, FBXL13, FBXL18, FGL2, FKBP9, FLNC, FOXK1, GALNTL5, GARS, GATS, GBX1, GCC1, GET4, GIGYF1, GIMAP2, GIMAP6, GIMAP7, GIMAP8, GLCCI1, GNA12, GNAT3, GPC2, GPNMB, GPR37, GPR85, GRB10, GRID2IP, GSAP, GTF2I, GTF2IRD1, GTF2IRD2, GTF2IRD2B, GTPBP10, GUSB, HBP1, HDAC9, HEATR2, HERPUD2, HOXA1, HOXA4, HOXA7, HSPB1, HTR5A, HYAL4, ICA1, IGFBP1, IGFBP3, IKZF1, IMPDH1, ING3, INMT, INTS1, IQCE, ITGB8, KCNH2, KDELR2, KDM7A, KIAA0087, KIAA0895, KIAA1549, KLF14, KLHL7, KLRG2, KMT2C, KPNA7, KRBA1, LAMB1, LAMB4, LAMTOR4, LANCL2, LFNG, LHFPL3, LMOD2, LMTK2, LRCH4, LRGUK, LRRC17, LRRC4, LRRD1, LRRN3, LRWD1, LSM5, LUC7L2, MACC1, MAD1L1, MAGI2, MBLAC1, MCM7, MDFIC, MEOX2, MEPCE, MET, METTL2B, MGAM, MICALL2, MIOS, MKRN1, MLXIPL, MMD2, MRPL32, MTERF, MTURN, MUC12, MUC17, MUC3A, MYL7, MYO1G, NACAD, NAMPT, NAPEPLD, NCF1, NFE2L3, NME8, NOBOX, NOD1, NOM1, NOS3, NPC1L1, NPSR1, NPVF, NPY, NRCAM, NRF1, NSUN5, NT5C3A, NUB1, NUP205, NUPL2, NYAP1, OGDH, OR2A1, OR2A14, OR2A25, OR2A5, OR2F1, OR2F2, OR6B1, OR6V1, PAPOLB, PARP12, PAX4, PAXIP1, PCLO, PDE1C, PDIA4, PDK4, PEX1, PHF14, PHKG1, PHTF2, PIK3CG, PILRA, PILRB, PKD1L1, PLEKHA8, PLOD3, PLXNA4, PMS2, PODXL, POLR2J3, POM121, POM121C, POM121L12, POMZP3, PON1, PON2, PON3, POR, POT1, POU6F2, PPP1R17, PPP1R3A, PPP1R9A, PRKAG2, PRKAR1B, PRKAR2B, PRPS1L1, PRR15, PRRT4, PRSS58, PSMC2, PSPH, PTPN12, PTPRN2, PTPRZ1, PURB, PVRIG, RAB19, RADIL, RAMP3, RAPGEF5, RARRES2, RASA4, RASA4B, RBAK, RBAK-RBAKDN, RBM33, RELN, REPIN1, RHBDD2, RHEB, RNF216, RNF32, RP11-1220K2.2, RP11-514P8.7, RSBN1L, RSPH10B2, SAMD9, SCIN, SDK1, SEMA3A, SEMA3C, SEMA3E, SFRP4, SH2B2, SLC12A9, SLC13A4, SLC26A3, SLC29A4, SLC35B4, SLC37A3, SLC4A2, SMO, SND1, SNX13, SNX8, SP8, SPAM1, SPDYE3, SRCRB4D, SRRM3, SRRT, ST7-OT4, STAG3, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STRA8, STYXL1, SUGCT, SUMF2, SUN1, SVOPL, TAS2R16, TAS2R38, TAS2R41, TAS2R60, TAX1BP1, TBL2, TBX20, TBXAS1, TECPR1, TFR2, THSD7A, TMED4, TMEM106B, TMEM120A, TMEM130, TMEM140, TMEM176A, TMEM176B, TMEM184A, TMEM209, TMEM213, TMEM229A, TMEM60, TNPO3, TNRC18, TNS3, TRBC2, TRBV10-1, TRBV19, TRBV2, TRBV20-1, TRBV24-1, TRBV25-1, TRBV27, TRBV30, TRBV4-1, TRBV5-4, TRBV5-5, TRBV6-4, TRBV6-6, TRBV6-7, TRBV6-8, TRBV6-9, TRBV7-3, TRBV7-4, TRBV7-6, TRBV7-7, TRBV9, TRGC1, TRGC2, TRGJ1, TRGV2, TRGV3, TRGV4, TRGV5, TRGV8, TRIM50, TRIM56, TRIM73, TRIP6, TRPV5, TRPV6, TSC22D4, TSPAN12, TSPAN13, TSRM, TYW1, TYW1B, UBE3C, UFSP1, UPK3B, UPK3BL, USP42, VIPR2, VOPP1, VPS41, VWC2, VWDE, WASL, WBSCR16, WBSCR28, WDR60, WDR86, WDR91, WEE2, WIPF3, WIPI2, WNT16, YAE1D1, YWHAG, ZAN, ZC3HAV1, ZC3HAV1L, ZC3HC1, ZCWPW1, ZDHHC4, ZNF107, ZNF117, ZNF12, ZNF138, ZNF212, ZNF273, ZNF467, ZNF479, ZNF679, ZNF680, ZNF713, ZNF716, ZNF727, ZNF736, ZNF775, ZNF777, ZNF783, ZNF804B, ZNF853, ZNF862, ZNF92, ZP3, ZSCAN21,

+ Genes associated with diseases 99

Genes at Omim

ABCB1, ABCB4, ACHE, ADAM22, ADCY1, AEBP1, AKAP9, ANLN, AP5Z1, ASB10, ASNS, ATP6V0A4, BLVRA, BMPER, BRAF, BRAT1, CALCR, CAMK2B, CARD11, CAV1, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, CUX1, DDC, DNAH11, DNAJB6, DPP6, EGFR, ELN, EPHB4, FAM20C, FLNC, GARS, GLCCI1, GPNMB, GUSB, HOXA1, HSPB1, IKZF1, IMPDH1, IQCE, KCNH2, KLHL7, KMT2C, LAMB1, LFNG, MAD1L1, MAGI2, MET, MMD2, NCF1, NME8, NOBOX, NOS3, NPC1L1, NPSR1, NT5C3A, NUP205, OGDH, PAX4, PCLO, PDE1C, PEX1, PKD1L1, PLOD3, PMS2, PON1, PON2, POR, POT1, POU6F2, PPP1R3A, PRKAG2, PSPH, PTPN12, RELN, RNF216, SAMD9, SEMA3A, SEMA3E, SFRP4, SLC26A3, STAG3, TAS2R16, TAS2R38, TBX20, TBXAS1, TFR2, TMEM106B, TNPO3, TRPV6, TSPAN12, WDR60, WEE2, YWHAG, ZP3,

ABCB1	{Inflammatory bowel disease 13}, 612244 (3) {Colchicine resistance}, 120080 (3)
ABCB4	Gallbladder disease 1, 600803 (3) Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3) Cholestasis, progressive familial intrahepatic 3, 602347 (3)
ACHE	[Blood group, Yt system], 112100 (3)
ADAM22	?Epileptic encephalopathy, early infantile, 61, 617933 (3)
ADCY1	?Deafness, autosomal recessive 44, 610154 (3)
AEBP1	Ehlers-Danlos syndrome, classic-like, 2, 618000 (3)
AKAP9	?Long QT syndrome-11, 611820 (3)
ANLN	Focal segmental glomerulosclerosis 8, 616032 (3)
AP5Z1	Spastic paraplegia 48, autosomal recessive, 613647 (3)
ASB10	Glaucoma 1, open angle, F, 603383 (3)
ASNS	Asparagine synthetase deficiency, 615574 (3)
ATP6V0A4	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
BLVRA	Hyperbiliverdinemia, 614156 (3)
BMPER	Diaphanospondylodysostosis, 608022 (3)
BRAF	Adenocarcinoma of lung, somatic, 211980 (3) Cardiofaciocutaneous syndrome, 115150 (3) Colorectal cancer, somatic (3) LEOPARD syndrome 3, 613707 (3) Melanoma, malignant, somatic (3) Nonsmall cell lung cancer, somatic (3) Noonan syndrome 7, 613706 (3)
BRAT1	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3) Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
CALCR	{Osteoporosis, postmenopausal, susceptibility}, 166710 (3)
CAMK2B	Mental retardation, autosomal dominant 54, 617799 (3)
CARD11	B-cell expansion with NFKB and T-cell anergy, 616452 (3) Immunodeficiency 11A, 615206 (3) Immunodeficiency 11B with atopic dermatitis, 617638 (3)
CAV1	Lipodystrophy, familial partial, type 7, 606721 (3) ?Lipodystrophy, congenital generalized, type 3, 612526 (3) Pulmonary hypertension, primary, 3, 615343 (3)
CFTR	{Hypertrypsinemia, neonatal} (3) Congenital bilateral absence of vas deferens, 277180 (3) Cystic fibrosis, 219700 (3) {Pancreatitis, hereditary}, 167800 (3) Sweat chloride elevation without CF (3) {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CLCN1	Myotonia congenita, dominant, 160800 (3) Myotonia congenita, recessive, 255700 (3) Myotonia levior, recessive (3)
CNTNAP2	Cortical dysplasia-focal epilepsy syndrome, 610042 (3) Pitt-Hopkins like syndrome 1, 610042 (3) {Autism susceptibility 15}, 612100 (3)
COG5	Congenital disorder of glycosylation, type IIi, 613612 (3)
COL1A2	{Osteoporosis, postmenopausal}, 166710 (3) Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3) Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3) Osteogenesis imperfecta, type II, 166210 (3) Osteogenesis imperfecta, type III, 259420 (3) Osteogenesis imperfecta, type IV, 166220 (3)
CUX1	Global developmental delay with or without impaired intellectual development, 618330 (3)
DDC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAJB6	Muscular dystrophy, limb-girdle, autosomal dominant 1, 603511 (3)
DPP6	{Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3) Mental retardation, autosomal dominant 33, 616311 (3)
EGFR	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3) {Nonsmall cell lung cancer, susceptibility to}, 211980 (3) ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3) Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
ELN	Cutis laxa, autosomal dominant, 123700 (3) Supravalvar aortic stenosis, 185500 (3)
EPHB4	Capillary malformation-arteriovenous malformation 2, 618196 (3) Lymphatic malformation 7, 617300 (3)
FAM20C	Raine syndrome, 259775 (3)
FLNC	Cardiomyopathy, familial hypertrophic, 26 (3) Cardiomyopathy, familial restrictive 5, 617047 (3) Myopathy, distal, 4, 614065 (3) Myopathy, myofibrillar, 5, 609524 (3)
GARS	Charcot-Marie-Tooth disease, type 2D, 601472 (3) Neuropathy, distal hereditary motor, type VA, 600794 (3)
GLCCI1	{Glucocorticoid therapy, response to}, 614400 (3)
GPNMB	Amyloidosis, primary localized cutaneous, 3, 617920 (3)
GUSB	Mucopolysaccharidosis VII, 253220 (3)
HOXA1	Athabaskan brainstem dysgenesis syndrome, 601536 (3) Bosley-Salih-Alorainy syndrome, 601536 (3)
HSPB1	Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3) Neuropathy, distal hereditary motor, type IIB, 608634 (3)
IKZF1	Immunodeficiency, common variable, 13, 616873 (3)
IMPDH1	Leber congenital amaurosis 11, 613837 (3) Retinitis pigmentosa 10, 180105 (3)
IQCE	?Polydactyly, postaxial, type A7, 617642 (3)
KCNH2	{Long QT syndrome 2, acquired, susceptibility to}, 613688 (3) Long QT syndrome 2, 613688 (3) Short QT syndrome 1, 609620 (3)
KLHL7	Cold-induced sweating syndrome 3, 617055 (3) Retinitis pigmentosa 42, 612943 (3)
KMT2C	Kleefstra syndrome 2, 617768 (3)
LAMB1	Lissencephaly 5, 615191 (3)
LFNG	Spondylocostal dysostosis 3, autosomal recessive, 609813 (3)
MAD1L1	Lymphoma, somatic (3) Prostate cancer, somatic, 176807 (3)
MAGI2	Nephrotic syndrome, type 15, 617609 (3)
MET	Hepatocellular carcinoma, childhood type, somatic, 114550 (3) {Osteofibrous dysplasia, susceptibility to}, 607278 (3) ?Deafness, autosomal recessive 97, 616705 (3) Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
MMD2	Miyoshi muscular dystrophy 2 (2)
NCF1	Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
NME8	Ciliary dyskinesia, primary, 6, 610852 (3)
NOBOX	Premature ovarian failure 5, 611548 (3)
NOS3	{Hypertension, pregnancy-induced}, 189800 (3) {Hypertension, susceptibility to}, 145500 (3) {Ischemic stroke, susceptibility to}, 601367 (3) {Placental abruption} (3) {Alzheimer disease, late-onset, susceptibility to}, 104300 (3) {Coronary artery spasm 1, susceptibility to} (3)
NPC1L1	[Ezetimibe, nonresponse to], 617966 (3) [Low density lipoprotein cholesterol level QTL 7], 617966 (3)
NPSR1	{Asthma, susceptibility to, 2}, 608584 (3)
NT5C3A	Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)
NUP205	?Nephrotic syndrome, type 13, 616893 (3)
OGDH	Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1)
PAX4	Diabetes mellitus, type 2, 125853 (3) Maturity-onset diabetes of the young, type IX, 612225 (3) {Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3)
PCLO	?Pontocerebellar hypoplasia, type 3, 608027 (3)
PDE1C	?Deafness, autosomal dominant 74, 618140 (3)
PEX1	Heimler syndrome 1, 234580 (3) Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3) Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
PKD1L1	Heterotaxy, visceral, 8, autosomal, 617205 (3)
PLOD3	Lysyl hydroxylase 3 deficiency, 612394 (3)
PMS2	Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3) Mismatch repair cancer syndrome, 276300 (3)
PON1	{Microvascular complications of diabetes 5}, 612633 (3) {Organophosphate poisoning, sensitivity to} (3) {Coronary artery disease, susceptibility to} (3) {Coronary artery spasm 2, susceptibility to (3)
PON2	{Coronary artery disease, susceptibility to} (3)
POR	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)
POT1	{Glioma susceptibility 9}, 616568 (3) {Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3)
POU6F2	{Wilms tumor susceptibility-5}, 601583 (3)
PPP1R3A	Insulin resistance, severe, digenic, 125853 (3)
PRKAG2	Glycogen storage disease of heart, lethal congenital, 261740 (3) Cardiomyopathy, hypertrophic 6, 600858 (3) Wolff-Parkinson-White syndrome, 194200 (3)
PSPH	Phosphoserine phosphatase deficiency, 614023 (3)
PTPN12	Colon cancer, somatic, 114500 (3)
RELN	Lissencephaly 2 (Norman-Roberts type), 257320 (3) {Epilepsy, familial temporal lobe, 7}, 616436 (3)
RNF216	Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3)
SAMD9	MIRAGE syndrome, 617053 (3) Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
SEMA3A	{Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3)
SEMA3E	?CHARGE syndrome, 214800 (3)
SFRP4	Pyle disease, 265900 (3)
SLC26A3	Diarrhea 1, secretory chloride, congenital, 214700 (3)
STAG3	Premature ovarian failure 8, 615723 (3)
TAS2R16	[Beta-glycopyranoside tasting], 617956 (3) {Alcohol dependence, susceptibility to}, 103780 (3)
TAS2R38	[Phenylthiocarbamide tasting], 171200 (3)
TBX20	Atrial septal defect 4, 611363 (3)
TBXAS1	Ghosal hematodiaphyseal syndrome, 231095 (3) ?Thromboxane synthase deficiency, 614158 (1)
TFR2	Hemochromatosis, type 3, 604250 (3)
TMEM106B	Leukodystrophy, hypomyelinating, 16, 617964 (3)
TNPO3	Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 (3)
TRPV6	Hyperparathyroidism, transient neonatal, 618188 (3)
TSPAN12	Exudative vitreoretinopathy 5, 613310 (3)
WDR60	Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
WEE2	Oocyte maturation defect 5, 617996 (3)
YWHAG	Epileptic encephalopathy, early infantile, 56, 617665 (3)
ZP3	Oocyte maturation defect 3, 617712 (3)

Genes at Clinical Genomics Database

ABCB1, ABCB4, ACHE, ADCY1, AKAP9, ANLN, AP5Z1, ASNS, ATP6V0A4, AUTS2, BBS9, BLVRA, BMPER, BRAF, BRAT1, CARD11, CAV1, CCM2, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, DDC, DFNA5, DNAH11, DNAJB6, DPP6, EGFR, ELN, FAM20C, FLNC, GARS, GUSB, HOXA1, HSPB1, IKZF1, IMPDH1, KCNH2, KLHL7, LAMB1, LFNG, MET, NCF1, NME8, NOBOX, NPC1L1, NT5C3A, NUP205, PAX4, PEX1, PLOD3, PMS2, PON1, POR, POT1, POU6F2, PPP1R3A, PRKAG2, PSPH, RELN, RNF216, SAMD9, SEMA3A, SEMA3E, SLC26A3, STAG3, SUGCT, TAS2R38, TBX20, TBXAS1, TFR2, TNPO3, TSPAN12, WDR60,

ABCB1	Colchicine metabolism, association with
ABCB4	Cholestasis, progressive familial intrahepatic 3 Low phospholipid-associated cholelithiasis 1 Cholestasis, oral contraceptives induced Cholestasis, familial intrahepatic, of pregnancy Gallbladder disease 1
ACHE	Blood group, Yt system
ADCY1	Deafness, autosomal dominant 44
AKAP9	Long QT syndrome 11
ANLN	Focal segmental glomerulosclerosis 8
AP5Z1	Spastic paraplegia 48, autosomal recessive
ASNS	Asparagine synthetase deficiency
ATP6V0A4	Renal tubular acidosis, distal, autosomal recessive
AUTS2	Mental retardation, autosomal dominant 26
BBS9	Bardet-Biedl syndrome 9
BLVRA	Hyperbiliverdinemia
BMPER	Diaphanospondylodysostosis
BRAF	Noonan syndrome Cardiofaciocutaneous syndrome LEOPARD syndrome 3
BRAT1	Rigidity and multifocal seizure syndrome, lethal neonatal
CARD11	B-cell expansion with NFKB and T-cell anergy Immunodeficiency 11
CAV1	Lipodystrophy, congenital generalized, type 3 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
CCM2	Cerebral cavernous malformations 2
CFTR	Cystic fibrosis
CLCN1	Myotonia congenita, autosomal dominant Myotonia congenita, autosomal recessive, Myotonia levior
CNTNAP2	Cortical dysplasia-focal epilepsy syndrome Pitt-Hopkins like syndrome 1
COG5	Congenital disorder of glycosylation, type IIi
COL1A2	Ehlers-Danlos syndrome, cardiac valvular form
DDC	Aromatic l-amino acid decarboxylase deficiency
DFNA5	Deafness, autosomal dominant 5
DNAH11	Ciliary dyskinesia, primary, 7
DNAJB6	Muscular dystrophy, limb-girdle, type 1E
DPP6	Ventricular fibrillation, paroxysmal familial, 2
EGFR	Acute myeloid leukemia, familial Lung cancer, familial, susceptibilty to Inflammatory skin and bowel disease, neonatal, 2
ELN	Cutis laxa, autosomal dominant 1 Supravalvular aortic stenosis
FAM20C	Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FLNC	Myopathy, distal, 4 Myopathy, myofibrillar, 5
GARS	Charcot-Marie-Tooth disease, type 2D Neuropathy, distal hereditary motor, type V
GUSB	Mucopolysaccharidosis type VII
HOXA1	Athabaskan brainstem dysgenesis syndrome Bosley-Salih-Alorainy syndrome
HSPB1	Neuropathy, distal hereditary motor, type IIB Charcot-Marie-Tooth disease, axonal, type 2F
IKZF1	Immunodeficiency, common variable, 13
IMPDH1	Retinitis pigmentosa 10 Leber congenital amaurosis 11
KCNH2	Long QT syndrome 2 Short QT syndrome 1
KLHL7	Retinitis pigmentosa 42
LAMB1	Lissencephaly 5
LFNG	Spondylocostal dysostosis, autosomal recessive 3
MET	Renal cell carcinoma, papillary Deafness, autosomal recessive 97
NCF1	Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type I
NME8	Ciliary dyskinesia, primary, 6
NOBOX	Premature ovarian failure 5
NPC1L1	Ezetimibe, nonresponse to
NT5C3A	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NUP205	Nephrotic syndrome, type 13
PAX4	Diabetes mellitus
PEX1	Heimler syndrome 1
PLOD3	Bone fragility with contractures, arterial rupture, and deafness
PMS2	Colorectal cancer, hereditary nonpolyposis type 4 Mismatch repair cancer syndrome
PON1	Clopidogrel treatment, sensitivity to
POR	Antley-Bixler syndrome Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
POT1	Glioma susceptibility 9 Melanoma, cutaneous malignant, susceptibility to 10
POU6F2	Wilms tumor 5
PPP1R3A	Insulin resistance, severe, digenic
PRKAG2	Cardiomyopathy, familial hypertrophic 6 Wolff-Parkinson-White syndrome
PSPH	Phosphoserine phosphatase deficiency
RELN	Epilepsy, familial temporal lobe, 7 Lissencephaly 2
RNF216	Cerebellar ataxia and hypogonadotropic hypogonadism (Gordon Holmes syndrome)
SAMD9	Tumoral calcinosis, normophosphatemic
SEMA3A	Hypogonadotropic hypogonadism 16 with or without anosmia
SEMA3E	CHARGE syndrome
SLC26A3	Diarrhea 1, secretory chloride, congenital
STAG3	Premature ovarian failure 8
SUGCT	Glutaric aciduria III
TAS2R38	Thiourea tasting Phenylthiocarbamide tasting
TBX20	Atrial septal defect 4
TBXAS1	Ghosal hematodiaphyseal syndrome
TFR2	Hemochromatosis, type 3
TNPO3	Muscular dystrophy, limb-girdle, type 1F
TSPAN12	Exudative vitreoretinopathy 5 Retinal dysplasia and severe familial exudative vitreoretinopathy
WDR60	Short -rib thoracic dysplasia 8 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 2716
Number of Genes: 516

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ABCA13
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	oje115-001 vqsr all	7	rs4917153 dbSNP Clinvar	48506642	65676.55	A	G	PASS	1/1	220	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.23063	0.23060	0.17498		0.00		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	oje115-001 vqsr all	7	rs61705907 dbSNP Clinvar	48563913	17937.16	A	G	PASS	0/1	136	SYNONYMOUS_CODING	LOW	None	0.08526	0.08526	0.08651				None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	oje115-001 vqsr all	7	rs62447309 dbSNP Clinvar	48559666	453.77	G	A	PASS	0/1	31	SYNONYMOUS_CODING	LOW	None	0.08586	0.08586	0.07670				None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	oje115-001 vqsr all	7	rs17548783 dbSNP Clinvar	48450157	158365.02	T	C	PASS	0/1	236	SYNONYMOUS_CODING	LOW	None	0.46266	0.46270	0.46629				None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	oje115-001 vqsr all	7	rs6583448 dbSNP Clinvar	48545976	415604.73	A	G	PASS	1/1	43	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000			0.00		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	oje115-001 vqsr all	7	rs4917152 dbSNP Clinvar	48506566	36032.42	A	G	PASS	1/1	156	NON_SYNONYMOUS_CODING	MODERATE	None	0.23083	0.23080	0.17826		0.00		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	oje115-001 vqsr all	7	rs61378229 dbSNP Clinvar	48559696	877.77	T	C	PASS	0/1	68	SYNONYMOUS_CODING	LOW	None	0.08586	0.08586	0.07686				None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	oje115-001 vqsr all	7	rs183358970 dbSNP Clinvar	48378029	1465.77	T	A	PASS	0/1	117	NON_SYNONYMOUS_CODING	MODERATE	None	0.00140	0.00140	0.00158		1.00		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	oje115-001 vqsr all	7	rs6583546 dbSNP Clinvar	48336844	281651.39	C	T	PASS	1/1	127	SYNONYMOUS_CODING	LOW	None	0.76897	0.76900	0.35105				None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	oje115-001 vqsr all	7	rs2222648 dbSNP Clinvar	48318811	509664.6	C	T	PASS	1/1	265	NON_SYNONYMOUS_CODING	MODERATE	None	0.85224	0.85220	0.22580		0.00		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	oje115-001 vqsr all	7	.	48335355	1934.77	A	G	PASS	0/1	160	NON_SYNONYMOUS_CODING	MODERATE	None					0.09		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	oje115-001 vqsr all	7	rs1880738 dbSNP Clinvar	48285485	2127.77	C	T	PASS	1/1	51	NON_SYNONYMOUS_CODING	MODERATE	None	0.40655	0.40650	0.35164		0.00		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	oje115-001 vqsr all	7	rs1358066 dbSNP Clinvar	48312674	249245.72	G	A	PASS	1/1	319	SYNONYMOUS_CODING	LOW	None	0.57528	0.57530	0.49452				None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	oje115-001 vqsr all	7	rs1880736 dbSNP Clinvar	48315796	12322.7	C	A	PASS	1/1	90	NON_SYNONYMOUS_CODING	MODERATE	None	0.81290	0.81290	0.30295		0.00		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	oje115-001 vqsr all	7	rs17132289 dbSNP Clinvar	48428715	32631.53	A	T	PASS	0/1	113	NON_SYNONYMOUS_CODING	MODERATE	None	0.08566	0.08566	0.07975		0.69		None None	None None None None	ABCA13\|0.04721773\|63.52%
ABCB1
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	oje115-001 vqsr all	7	rs1128503 dbSNP Clinvar	87179601	385290.43	A	G	PASS	0/1	309	SYNONYMOUS_CODING	LOW	None	0.58387	0.58390	0.35760				None None	None None None None	ABCB1\|0.831468236\|5.08%
	View	oje115-001 vqsr all	7	rs36008564 dbSNP Clinvar	87190625	7341.75	T	C	PASS	0/1	205	NON_SYNONYMOUS_CODING	MODERATE	None	0.00619	0.00619	0.00623	0.12	0.06		None None	None None None None	ABCB1\|0.831468236\|5.08%
	View	oje115-001 vqsr all	7	rs2032582 dbSNP Clinvar	87160618	444069.38	A	C	PASS	1/1	215	NON_SYNONYMOUS_CODING	MODERATE	None	0.04872	0.61700	0.32193	1.00	0.00		None None	None None None None	ABCB1\|0.831468236\|5.08%
	View	oje115-001 vqsr all	7	rs1045642 dbSNP Clinvar	87138645	482395.96	A	G	PASS	1/1	291	SYNONYMOUS_CODING	LOW	None	0.60483	0.60480	0.42334				None None	None None None None	ABCB1\|0.831468236\|5.08%
ABCB4
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	oje115-001 vqsr all	7	rs2109505 dbSNP Clinvar	87079406	108496.74	T	A	PASS	0/1	275	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.26138	0.26140	0.22490				None None	None None None None	ABCB4\|0.238504845\|32.55%
	View	oje115-001 vqsr all	7	rs2230028 dbSNP Clinvar	87056176	65919.44	T	C	PASS	0/1	296	NON_SYNONYMOUS_CODING	MODERATE	None	0.17033	0.17030	0.16854	0.42	0.00		None None	None None None None	ABCB4\|0.238504845\|32.55%
	View	oje115-001 vqsr all	7	rs2302387 dbSNP Clinvar	87092185	42276.98	G	A	PASS	0/1	128	SYNONYMOUS_CODING	LOW	None	0.25240	0.25240	0.24204				None None	None None None None	ABCB4\|0.238504845\|32.55%
ABCB5
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	oje115-001 vqsr all	7	rs10254317 dbSNP Clinvar	20768013	152222.06	G	A	PASS	0/1	196	SYNONYMOUS_CODING	LOW	None	0.59605	0.59600	0.47801				None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	oje115-001 vqsr all	7	rs6461515 dbSNP Clinvar	20778646	925.77	G	A	PASS	0/1	61	NON_SYNONYMOUS_CODING	MODERATE	None	0.75679	0.75680	0.22620	0.13	0.34		None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	oje115-001 vqsr all	7	rs2893006 dbSNP Clinvar	20687181	8930.54	C	T	PASS	0/1	44	SYNONYMOUS_CODING	LOW	None	0.21945	0.21940	0.25908				None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	oje115-001 vqsr all	7	rs2301641 dbSNP Clinvar	20698270	1065.77	A	G	PASS	0/1	85	NON_SYNONYMOUS_CODING	MODERATE	None	0.36382	0.36380	0.39997	1.00	0.00		None None	None None None None	ABCB5\|0.12579132\|46.5%
ABCB8
Omim - GeneCards - NCBI