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Genes:
ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, ABHD11, AC004899.1, AC005008.2, AC005481.5, AC009403.2, AC011294.3, AC021218.2, AC073343.1, AC074389.6, AC091801.1, AC099552.4, AC110781.3, ACHE, ADAM22, ADAP1, ADCY1, AEBP1, AGBL3, AGR2, AHCYL2, AIMP2, AKAP9, AKR1B10, AMPH, AMZ1, ANKIB1, ANKMY2, ANKRD61, ANLN, AOAH, AOC1, AP4M1, AQP1, ARHGEF5, ARMC10, ASB10, ASB15, ASIC3, ASNS, ASZ1, ATG9B, ATP6V0A4, AVL9, AZGP1, BAIAP2L1, BBS9, BLACE, BLVRA, BMPER, BRAT1, C7orf13, C7orf25, C7orf31, C7orf34, C7orf50, C7orf57, C7orf63, C7orf65, C7orf71, C7orf72, CADPS2, CALCR, CALD1, CALU, CAMK2B, CARD11, CAV1, CCDC129, CCDC132, CCDC136, CCDC146, CCL24, CCM2, CCT6A, CCZ1, CCZ1B, CDCA7L, CDHR3, CFTR, CHN2, CHPF2, CLCN1, CLDN12, CLIP2, CNOT4, CNTNAP2, COBL, COG5, COL1A2, COL26A1, COL28A1, CPA1, CPA2, CPA4, CPA5, CPED1, CPSF4, CPVL, CRCP, CREB3L2, CRYGN, CUX1, CYP2W1, CYP3A43, CYP3A7, CYP51A1, CYTH3, DBNL, DDC, DDX56, DENND2A, DFNA5, DGKB, DMTF1, DNAH11, DNAJB9, DNAJC2, DNAJC30, DPP6, DTX2, DYNC1I1, EEPD1, EGFR, EIF2AK1, EIF3B, ELMO1, EN2, EPDR1, EPHA1, EPHB4, EPHB6, ERV3-1, ETV1, EXOC4, FAM115A, FAM115C, FAM131B, FAM185A, FAM188B, FAM20C, FAM71F1, FAM71F2, FBXL13, FBXL18, FGL2, FIGNL1, FKBP6, FKBP9, FLNC, FOXK1, FOXP2, GAL3ST4, GALNTL5, GARS, GATS, GET4, GIGYF1, GIMAP2, GIMAP4, GIMAP5, GIMAP7, GLCCI1, GLI3, GNA12, GPNMB, GPR37, GPR85, GRB10, GRID2IP, GRM8, GSAP, GTF2IRD2B, GTPBP10, GUSB, HBP1, HDAC9, HEATR2, HECW1, HERPUD2, HIBADH, HIPK2, HOXA1, HOXA4, HOXA7, HTR5A, HUS1, ICA1, IFRD1, IGFBP3, IKZF1, ING3, INMT, IQCE, IQUB, IRF5, ISPD, KBTBD2, KDELR2, KDM7A, KIAA0087, KIAA0895, KIAA1147, KIAA1549, KLF14, KLHL7, KLRG2, KMT2C, KMT2E, KPNA7, KRBA1, LAMB1, LAMB4, LAMTOR4, LANCL2, LFNG, LHFPL3, LMOD2, LMTK2, LRCH4, LRGUK, LRRC17, LRRC4, LRRC61, LRRD1, LRRN3, LRWD1, LSM5, MAD1L1, MAGI2, MCM7, MDFIC, MDH2, MEOX2, MET, METTL2B, MGAM, MICALL2, MIOS, MLXIPL, MMD2, MPP6, MRPL32, MTERF, MTURN, MUC12, MUC17, MUC3A, MYL7, MYO1G, NACAD, NAPEPLD, NAT16, NCF1, NFE2L3, NME8, NOBOX, NOM1, NOS3, NPSR1, NPVF, NPY, NRCAM, NSUN5, NT5C3A, NUB1, NUDT1, NUP205, OGDH, OR2A1, OR2A14, OR2A2, OR2A25, OR2A5, OR2AE1, OR2F1, OR2F2, OR6B1, OR6V1, OSBPL3, PAPOLB, PARP12, PAX4, PAXIP1, PCLO, PDE1C, PDIA4, PEX1, PHF14, PHKG1, PHTF2, PIK3CG, PILRA, PKD1L1, PLEKHA8, PLOD3, PLXNA4, PMPCB, PMS2, PODXL, POLM, POM121, POM121L12, POMZP3, PON1, PON3, POP7, POR, POT1, POU6F2, PP13004, PPP1R3A, PPP1R9A, PRKAR1B, PRKAR2B, PRKRIP1, PRPS1L1, PRR15, PRRT4, PRSS1, PRSS37, PRSS58, PSMC2, PSPH, PTPN12, PTPRN2, PTPRZ1, PURB, PUS7, PVRIG, RAB19, RADIL, RARRES2, RBAK, RBAK-RBAKDN, RBM33, RELN, REPIN1, RHBDD2, RINT1, RNF216, RNF32, RP11-1220K2.2, RSPH10B, SAMD9, SAMD9L, SCIN, SDK1, SEMA3A, SEMA3C, SEMA3E, SEPT14, SFRP4, SH2B2, SHH, SLC13A4, SLC25A13, SLC26A3, SLC35B4, SLC37A3, SLC4A2, SMO, SMURF1, SND1, SNX13, SNX8, SP8, SPAM1, SRRM3, ST7-OT4, STAG3, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STX1A, STYXL1, SUGCT, SUMF2, SUN1, SVOPL, TAS2R16, TAS2R3, TAS2R38, TAS2R4, TAS2R5, TAS2R60, TBX20, TBXAS1, TECPR1, TES, THSD7A, TMED4, TMEM106B, TMEM120A, TMEM130, TMEM140, TMEM176A, TMEM176B, TMEM178B, TMEM184A, TMEM213, TNPO3, TNRC18, TNS3, TRBC2, TRBV10-1, TRBV10-2, TRBV19, TRBV2, TRBV20-1, TRBV25-1, TRBV27, TRBV30, TRBV4-1, TRBV5-3, TRBV5-4, TRBV5-5, TRBV5-6, TRBV6-1, TRBV6-4, TRBV6-5, TRBV6-6, TRBV6-7, TRBV6-8, TRBV6-9, TRBV7-3, TRBV7-4, TRBV7-6, TRBV7-7, TRBV7-8, TRGC1, TRGC2, TRGJ1, TRGV2, TRGV3, TRGV4, TRGV9, TRIM4, TRIM50, TRIM56, TRPV5, TRPV6, TRRAP, TSC22D4, TSPAN12, TYW1B, UPK3B, URGCP, USP42, VIPR2, VOPP1, VPS41, VWDE, WASL, WBSCR16, WBSCR27, WBSCR28, WDR60, WDR86, WDR91, WIPI2, WNT16, YWHAG, ZAN, ZC3HAV1, ZC3HC1, ZMIZ2, ZNF107, ZNF117, ZNF138, ZNF273, ZNF277, ZNF398, ZNF425, ZNF479, ZNF679, ZNF680, ZNF713, ZNF716, ZNF727, ZNF746, ZNF775, ZNF777, ZNF804B, ZNF862, ZNF92, ZSCAN21,

+ Genes associated with diseases 100

Genes at Omim

ABCB1, ABCB4, ACHE, ADAM22, ADCY1, AEBP1, AIMP2, AKAP9, ANLN, AP4M1, AQP1, ASB10, ASNS, ATP6V0A4, BLVRA, BMPER, BRAT1, CALCR, CAMK2B, CARD11, CAV1, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, CUX1, DDC, DNAH11, DPP6, EGFR, EPHB4, FAM20C, FLNC, FOXP2, GARS, GLCCI1, GLI3, GPNMB, GUSB, HOXA1, IKZF1, IQCE, IRF5, ISPD, KLHL7, KMT2C, LAMB1, LFNG, MAD1L1, MAGI2, MDH2, MET, MMD2, NCF1, NME8, NOBOX, NOS3, NPSR1, NT5C3A, NUP205, OGDH, PAX4, PCLO, PDE1C, PEX1, PKD1L1, PLOD3, PMPCB, PMS2, PON1, POR, POT1, POU6F2, PPP1R3A, PRSS1, PSPH, PTPN12, PUS7, RELN, RNF216, SAMD9, SAMD9L, SEMA3A, SEMA3E, SFRP4, SHH, SLC25A13, SLC26A3, STAG3, TAS2R16, TAS2R38, TBX20, TBXAS1, TMEM106B, TNPO3, TRPV6, TSPAN12, WDR60, YWHAG,

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)
AIMP2	Leukodystrophy, hypomyelinating, 17, 618006 (3)
AKAP9	?Long QT syndrome-11, 611820 (3)
ANLN	Focal segmental glomerulosclerosis 8, 616032 (3)
AP4M1	Spastic paraplegia 50, autosomal recessive, 612936 (3)
AQP1	[Aquaporin-1 deficiency], 110450 (3) [Blood group, Colton], 110450 (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)
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)
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)
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)
FOXP2	Speech-language disorder-1, 602081 (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)
GLI3	{Hypothalamic hamartomas, somatic}, 241800 (3) Greig cephalopolysyndactyly syndrome, 175700 (3) Pallister-Hall syndrome, 146510 (3) Polydactyly, postaxial, types A1 and B, 174200 (3) Polydactyly, preaxial, type IV, 174700 (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)
IKZF1	Immunodeficiency, common variable, 13, 616873 (3)
IQCE	?Polydactyly, postaxial, type A7, 617642 (3)
IRF5	{Inflammatory bowel disease 14}, 612245 (3) {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
ISPD	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (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)
MDH2	Epileptic encephalopathy, early infantile, 51, 617339 (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)
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)
PMPCB	Multiple mitochondrial dysfunctions syndrome 6, 617954 (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)
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)
PRSS1	Pancreatitis, hereditary, 167800 (3) Trypsinogen deficiency, 614044 (1)
PSPH	Phosphoserine phosphatase deficiency, 614023 (3)
PTPN12	Colon cancer, somatic, 114500 (3)
PUS7	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 (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)
SAMD9L	Ataxia-pancytopenia syndrome, 159550 (3)
SEMA3A	{Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3)
SEMA3E	?CHARGE syndrome, 214800 (3)
SFRP4	Pyle disease, 265900 (3)
SHH	Holoprosencephaly 3, 142945 (3) Microphthalmia with coloboma 5, 611638 (3) Schizencephaly, 269160 (3) Single median maxillary central incisor, 147250 (3)
SLC25A13	Citrullinemia, adult-onset type II, 603471 (3) Citrullinemia, type II, neonatal-onset, 605814 (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)
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)
YWHAG	Epileptic encephalopathy, early infantile, 56, 617665 (3)

Genes at Clinical Genomics Database

ABCB1, ABCB4, ACHE, ADCY1, AKAP9, ANLN, AP4M1, AQP1, ASNS, ATP6V0A4, BBS9, BLVRA, BMPER, BRAT1, CARD11, CAV1, CCM2, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, DDC, DFNA5, DNAH11, DPP6, EGFR, FAM20C, FLNC, FOXP2, GARS, GLI3, GUSB, HOXA1, IKZF1, ISPD, KLHL7, LAMB1, LFNG, MET, NCF1, NME8, NOBOX, NT5C3A, NUP205, PAX4, PEX1, PLOD3, PMS2, PON1, POR, POT1, POU6F2, PPP1R3A, PRSS1, PSPH, RELN, RNF216, SAMD9, SEMA3A, SEMA3E, SHH, SLC25A13, SLC26A3, STAG3, SUGCT, TAS2R38, TBX20, TBXAS1, TNPO3, TRRAP, 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
AP4M1	Spastic paraplegia 50, autosomal recessive
AQP1	Blood group, Colton
ASNS	Asparagine synthetase deficiency
ATP6V0A4	Renal tubular acidosis, distal, autosomal recessive
BBS9	Bardet-Biedl syndrome 9
BLVRA	Hyperbiliverdinemia
BMPER	Diaphanospondylodysostosis
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
DPP6	Ventricular fibrillation, paroxysmal familial, 2
EGFR	Acute myeloid leukemia, familial Lung cancer, familial, susceptibilty to Inflammatory skin and bowel disease, neonatal, 2
FAM20C	Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FLNC	Myopathy, distal, 4 Myopathy, myofibrillar, 5
FOXP2	Speech-language disorder 1
GARS	Charcot-Marie-Tooth disease, type 2D Neuropathy, distal hereditary motor, type V
GLI3	Acrocallosal syndrome Pallister-Hall syndrome Grieg cephalopolysndactyly syndrome Postaxial polydactyly type A1 Polydactyly, preaxial, type IV Polydactyly, postaxial, types A1 and B
GUSB	Mucopolysaccharidosis type VII
HOXA1	Athabaskan brainstem dysgenesis syndrome Bosley-Salih-Alorainy syndrome
IKZF1	Immunodeficiency, common variable, 13
ISPD	Muscular dystrophy-dystroglycanopathy (congenital, with brain and eye anomalies), type A, 7 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
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
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
PRSS1	Pancreatitis, hereditary
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
SHH	Holoprosencephaly 3 Microphthalmia with coloboma 5
SLC25A13	Citrin deficiency
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
TNPO3	Muscular dystrophy, limb-girdle, type 1F
TRRAP	Schizophrenia
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: 4899
Number of Genes: 494

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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	pm-286 final	7	rs78334925 dbSNP Clinvar	48317708	197.77	A	C	PASS	0/1	13	NON_SYNONYMOUS_CODING	MODERATE	None	0.09724	0.09724	0.06900		0.09		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	pm-286 final	7	rs1880736 dbSNP Clinvar	48315796	847.77	C	A	PASS	1/1	24	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	pm-286 final	7	rs17712299 dbSNP Clinvar	48313881	205.77	T	C	PASS	0/1	18	NON_SYNONYMOUS_CODING	MODERATE	None	0.09645	0.09645	0.07398		0.99		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	pm-286 final	7	rs77190804 dbSNP Clinvar	48313757	237.77	G	A	PASS	0/1	26	SYNONYMOUS_CODING	LOW	None	0.09625	0.09625	0.07358				None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	pm-286 final	7	rs6583448 dbSNP Clinvar	48545976	2366.77	A	G	PASS	1/1	68	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000			0.00		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	pm-286 final	7	rs17548783 dbSNP Clinvar	48450157	4322.77	T	C	PASS	1/1	124	SYNONYMOUS_CODING	LOW	None	0.46266	0.46270	0.46629				None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	pm-286 final	7	rs17132289 dbSNP Clinvar	48428715	1507.77	A	T	PASS	0/1	89	NON_SYNONYMOUS_CODING	MODERATE	None	0.08566	0.08566	0.07975		0.58		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	pm-286 final	7	rs1880738 dbSNP Clinvar	48285485	497.77	C	T	PASS	0/1	45	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	pm-286 final	7	rs6583546 dbSNP Clinvar	48336844	2010.77	C	T	PASS	1/1	56	SYNONYMOUS_CODING	LOW	None	0.76897	0.76900	0.35105				None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	pm-286 final	7	rs1358066 dbSNP Clinvar	48312674	1670.77	G	A	PASS	1/1	53	SYNONYMOUS_CODING	LOW	None	0.57528	0.57530	0.49452				None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	pm-286 final	7	rs2222648 dbSNP Clinvar	48318811	1467.77	C	T	PASS	1/1	41	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	pm-286 final	7	rs186526946 dbSNP Clinvar	48318613	452.77	A	G	PASS	0/1	37	NON_SYNONYMOUS_CODING	MODERATE	None	0.00958	0.00959	0.00034		0.00		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	pm-286 final	7	rs1128503 dbSNP Clinvar	87179601	2102.77	A	G	PASS	1/1	58	SYNONYMOUS_CODING	LOW	None	0.58387	0.58390	0.35760				None None	None None None None	ABCB1\|0.831468236\|5.08%
	View	pm-286 final	7	rs2032582 dbSNP Clinvar	87160618	915.77	A	C	PASS	1/1	27	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	pm-286 final	7	rs1045642 dbSNP Clinvar	87138645	1141.77	A	G	PASS	1/1	34	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	pm-286 final	7	rs1202283 dbSNP Clinvar	87082292	2576.77	G	A	PASS	1/1	71	SYNONYMOUS_CODING	LOW	None	0.34784	0.34780	0.40412				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	pm-286 final	7	rs62453384 dbSNP Clinvar	20762646	464.77	G	T	PASS	0/1	38	NON_SYNONYMOUS_CODING	MODERATE	None	0.23223	0.23220	0.29909	0.00	0.57		None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	pm-286 final	7	rs6461515 dbSNP Clinvar	20778646	1431.77	G	A	PASS	1/1	43	NON_SYNONYMOUS_CODING	MODERATE	None	0.75679	0.75680	0.22620	0.13	0.81		None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	pm-286 final	7	rs2301641 dbSNP Clinvar	20698270	1216.77	A	G	PASS	0/1	102	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%
	View	pm-286 final	7	rs10254317 dbSNP Clinvar	20768013	3328.77	G	A	PASS	1/1	97	SYNONYMOUS_CODING	LOW	None	0.59605	0.59600	0.47801				None None	None None None None	ABCB5\|0.12579132\|46.5%
ABCB8
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	pm-286 final	7	rs78023969 dbSNP Clinvar	150734364	473.77	G	T	PASS	0/1	37	None	None	None	0.02696	0.02696					None None	None None None None	ABCB8\|0.062047001\|59.3%
	View	pm-286 final	7	rs17545756 dbSNP Clinvar	150732812	1853.77	C	T	PASS	0/1	100	NON_SYNONYMOUS_CODING	MODERATE	None	0.02716	0.02716	0.04483	0.00	0.98		None None	None None None None	ABCB8\|0.062047001\|59.3%
	View	pm-286 final	7	.	150725901	66.77	C	T	PASS	0/1	6	None	None	None							None None	None None None None	ABCB8\|0.062047001\|59.3%
	View	pm-286 final	7	rs59397762 dbSNP Clinvar	150742408	157.77	G	T	PASS	0/1	12	NON_SYNONYMOUS_CODING	MODERATE	None	0.02736	0.02736	0.04467	0.03	0.00		None None	None None None None	ABCB8\|0.062047001\|59.3%
ABCF2