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Genes:
ABCC2, ABLIM1, ADAM12, ADAM8, ADAMTS14, ADARB2, ADIRF, ADRB1, AFAP1L2, AGAP4, AGAP6, AGAP7, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1CL1, AL162407.1, AL450307.1, AL603965.1, ALDH18A1, ALOX5, ANK3, ANKRD16, ANKRD2, ANKRD26, ANKRD30A, ANTXRL, ANXA11, ANXA8L2, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARMC3, ASAH2, ATE1, ATRNL1, AVPI1, BAG3, BEND7, BICC1, BLNK, BLOC1S2, BMPR1A, BMS1, BTBD16, C10ORF68, C10orf107, C10orf11, C10orf113, C10orf118, C10orf120, C10orf128, C10orf129, C10orf25, C10orf35, C10orf53, C10orf54, C10orf67, C10orf71, C10orf76, C10orf90, C10orf95, C1QL3, CACNB2, CALHM1, CALHM3, CAMK1D, CAMK2G, CC2D2B, CCAR1, CCDC3, CCDC6, CCDC7, CDH23, CDHR1, CDNF, CELF2, CEP55, CHAT, CHST15, CHUK, CNNM1, CNNM2, COL13A1, COL17A1, COX15, CPEB3, CPXM2, CRTAC1, CSGALNACT2, CTBP2, CUBN, CUL2, CWF19L1, CYP17A1, CYP26C1, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DDX50, DHTKD1, DHX32, DIP2C, DKK1, DLG5, DMBT1, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DUSP13, DUSP5, EBLN1, ECHDC3, ECHS1, EGR2, EIF3A, EMX2, ENO4, ENTPD7, ERCC6, ERCC6-PGBD3, ERLIN1, EXOC6, FAM160B1, FAM170B, FAM175B, FAM178A, FAM196A, FAM208B, FAM21A, FAM25A, FAM35A, FAM45A, FANK1, FAS, FFAR4, FGFBP3, FGFR2, FRA10AC1, FRAT2, FRG2B, FRMD4A, GBF1, GFRA1, GJD4, GLRX3, GOT1, GPAM, GPR123, GPR158, GPR26, GPRIN2, GRID1, GTPBP4, HABP2, HECTD2, HERC4, HIF1AN, HK1, HKDC1, HNRNPH3, HPSE2, HTR7, IDI2, IFIT1, IFIT2, IL15RA, INPP5A, ITGA8, ITGB1, ITIH2, ITIH5, ITPRIP, JAKMIP3, JMJD1C, KAZALD1, KIAA1462, KIF20B, KNDC1, LGI1, LHPP, LIPA, LIPF, LIPJ, LIPK, LIPN, LOXL4, LRIT1, LRIT2, LRRC18, LRRC27, LYZL1, LYZL2, MALRD1, MAP3K8, MARCH8, MARVELD1, MASTL, MBL2, MEIG1, MKI67, MKX, MMP21, MMRN2, MMS19, MPP7, MRC1L1, MTG1, MYO3A, MYOF, MYPN, NAMPTL, NCOA4, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX2-3, NKX6-2, NPY4R, NRAP, NRG3, NRP1, NT5C2, NUDT5, NUTM2A, NUTM2D, OAT, OBFC1, OGDHL, OLAH, OPN4, OPTN, OR13A1, PALD1, PANK1, PAOX, PARD3, PAX2, PBLD, PCDH15, PCGF6, PDCD11, PDCD4, PDLIM1, PDZD7, PDZD8, PFKP, PHYH, PHYHIPL, PIK3AP1, PITRM1, PKD2L1, PLAU, PLEKHA1, PLEKHS1, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PPAPDC1A, PPP2R2D, PRAP1, PRDX3, PRF1, PRKCQ, PRLHR, PROSER2, PRR26, PSD, PTCHD3, PTER, PTF1A, PTPLA, PTPRE, PWWP2B, R3HCC1L, RAB11FIP2, RASSF4, RBM20, RET, RGR, RGS10, RP11-108K14.8, RP11-248J23.6, RRP12, RTKN2, RUFY2, SCD, SEC23IP, SEC61A2, SEMA4G, SFMBT2, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN4, SGPL1, SH2D4B, SH3PXD2A, SIRT1, SLC16A9, SLC18A2, SLC18A3, SLC29A3, SLC39A12, SLIT1, SLK, SMC3, SORBS1, SPAG6, SPRN, SRGN, STK32C, STOX1, SUFU, SUPV3L1, SVIL, SYCE1, SYT15, TACC2, TACR2, TAF3, TBATA, TCERG1L, TCTN3, TECTB, TET1, TEX36, THNSL1, TIAL1, TIMM23, TM9SF3, TMEM180, TMEM254, TMEM26, TRDMT1, TRUB1, TTC40, TUBAL3, TUBB8, TUBGCP2, TYSND1, UCMA, UNC5B, UPF2, USP6NL, UTF1, VCL, VENTX, VSTM4, VWA2, WAPAL, WBP1L, WDFY4, WDR11, WDR37, ZFYVE27, ZMYND11, ZNF239, ZNF25, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF487, ZNF488, ZNF511, ZRANB1, ZSWIM8, ZWINT,

+ Genes associated with diseases 88

Genes at Omim

ABCC2, ADRB1, AKR1C2, AKR1C4, ALDH18A1, ALOX5, ANK3, ANKRD26, ANXA11, BAG3, BICC1, BLNK, BMPR1A, BMS1, CACNB2, CDH23, CDHR1, CEP55, CHAT, CHUK, CNNM2, COL13A1, COL17A1, COX15, CUBN, CWF19L1, CYP17A1, CYP26C1, CYP2C8, CYP2C9, DHTKD1, ECHS1, EGR2, EMX2, ERCC6, ERLIN1, FAS, FFAR4, FGFR2, FRMD4A, GOT1, HABP2, HK1, HPSE2, ITGA8, LGI1, LIPA, LIPN, MAP3K8, MBL2, MMP21, MYO3A, MYPN, NEUROG3, NFKB2, NHLRC2, NKX6-2, NT5C2, OAT, OPTN, PAX2, PCDH15, PDZD7, PHYH, PLAU, PNLIP, PRF1, PTF1A, RBM20, RET, RGR, SFTPA2, SFXN4, SGPL1, SLC18A2, SLC18A3, SLC29A3, SMC3, STOX1, SUFU, SYCE1, TCTN3, TUBB8, VCL, WDR11, ZFYVE27, ZMYND11, ZNF365,

ABCC2	Dubin-Johnson syndrome, 237500 (3)
ADRB1	[Resting heart rate], 607276 (3) {Congestive heart failure and beta-blocker response, modifier of} (3)
AKR1C2	46XY sex reversal 8, 614279 (3)
AKR1C4	{46XY sex reversal 8, modifier of}, 614279 (3)
ALDH18A1	Cutis laxa, autosomal dominant 3, 616603 (3) Cutis laxa, autosomal recessive, type IIIA, 219150 (3) Spastic paraplegia 9A, autosomal dominant, 601162 (3) Spastic paraplegia 9B, autosomal recessive, 616586 (3)
ALOX5	{Asthma, diminished response to antileukotriene treatment in}, 600807 (3) {Atherosclerosis, susceptibility to} (3)
ANK3	?Mental retardation, autosomal recessive, 37, 615493 (3)
ANKRD26	Thrombocytopenia 2, 188000 (3)
ANXA11	Amytrophic lateral sclerosis 23, 617839 (3)
BAG3	Cardiomyopathy, dilated, 1HH, 613881 (3) Myopathy, myofibrillar, 6, 612954 (3)
BICC1	{Renal dysplasia, cystic, susceptibility to}, 601331 (3)
BLNK	?Agammaglobulinemia 4, 613502 (3)
BMPR1A	Juvenile polyposis syndrome, infantile form, 174900 (3) Polyposis syndrome, hereditary mixed, 2, 610069 (3) Polyposis, juvenile intestinal, 174900 (3)
BMS1	?Aplasia cutis congenita, nonsyndromic, 107600 (3)
CACNB2	Brugada syndrome 4, 611876 (3)
CDH23	Deafness, autosomal recessive 12, 601386 (3) {Pituitary adenoma 5, multiple types}, 617540 (3) Usher syndrome, type 1D, 601067 (3) Usher syndrome, type 1D/F digenic, 601067 (3)
CDHR1	Cone-rod dystrophy 15, 613660 (3) Retinitis pigmentosa 65, 613660 (3)
CEP55	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3)
CHAT	Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CHUK	Cocoon syndrome, 613630 (3)
CNNM2	Hypomagnesemia 6, renal, 613882 (3) Hypomagnesemia, seizures, and mental retardation, 616418 (3)
COL13A1	Myasthenic syndrome, congenital, 19, 616720 (3)
COL17A1	Epidermolysis bullosa, junctional, localisata variant, 226650 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) Epithelial recurrent erosion dystrophy, 122400 (3)
COX15	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3) Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3)
CUBN	Megaloblastic anemia-1, Finnish type, 261100 (3)
CWF19L1	Spinocerebellar ataxia, autosomal recessive 17, 616127 (3)
CYP17A1	17,20-lyase deficiency, isolated, 202110 (3) 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
CYP26C1	Focal facial dermal dysplasia 4, 614974 (3)
CYP2C8	{Drug metabolism, altered, CYP2C8-related}, 618018 (3)
CYP2C9	Tolbutamide poor metabolizer (3) Warfarin sensitivity, 122700 (3)
DHTKD1	2-aminoadipic 2-oxoadipic aciduria, 204750 (3) ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
ECHS1	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
EGR2	Charcot-Marie-Tooth disease, type 1D, 607678 (3) Hypomyelinating neuropathy, congenital, 1, 605253 (3) Dejerine-Sottas disease, 145900 (3)
EMX2	Schizencephaly, 269160 (3)
ERCC6	Cerebrooculofacioskeletal syndrome 1, 214150 (3) {Lung cancer, susceptibility to}, 211980 (3) {Macular degeneration, age-related, susceptibility to, 5}, 613761 (3) Cockayne syndrome, type B, 133540 (3) De Sanctis-Cacchione syndrome, 278800 (3) Premature ovarian failure 11, 616946 (3) UV-sensitive syndrome 1, 600630 (3)
ERLIN1	Spastic paraplegia 62, 615681 (3)
FAS	Autoimmune lymphoproliferative syndrome, type IA, 601859 (3) Squamous cell carcinoma, burn scar-related, somatic (3) {Autoimmune lymphoproliferative syndrome}, 601859 (3)
FFAR4	{Obesity, susceptibility to}, 607514 (3)
FGFR2	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3) Apert syndrome, 101200 (3) Gastric cancer, somatic, 613659 (3) Beare-Stevenson cutis gyrata syndrome, 123790 (3) Bent bone dysplasia syndrome, 614592 (3) Craniofacial-skeletal-dermatologic dysplasia, 101600 (3) Craniosynostosis, nonspecific (3) Crouzon syndrome, 123500 (3) Jackson-Weiss syndrome, 123150 (3) LADD syndrome, 149730 (3) Pfeiffer syndrome, 101600 (3) Saethre-Chotzen syndrome, 101400 (3) Scaphocephaly and Axenfeld-Rieger anomaly (3) Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
FRMD4A	?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3)
GOT1	Aspartate aminotransferase, serum level of, QTL1, 614419 (3)
HABP2	{Venous thromboembolism, susceptibility to}, 188050 (3) {?Thyroid cancer, nonmedullary, 5}, 616535 (3)
HK1	Hemolytic anemia due to hexokinase deficiency, 235700 (3) Neuropathy, hereditary motor and sensory, Russe type, 605285 (3) Retinitis pigmentosa 79, 617460 (3)
HPSE2	Urofacial syndrome 1, 236730 (3)
ITGA8	Renal hypodysplasia/aplasia 1, 191830 (3)
LGI1	Epilepsy, familial temporal lobe, 1, 600512 (3)
LIPA	Cholesteryl ester storage disease, 278000 (3) Wolman disease, 278000 (3)
LIPN	Ichthyosis, congenital, autosomal recessive 8, 613943 (3)
MAP3K8	Lung cancer, somatic, 211980 (3)
MBL2	{Chronic infections, due to MBL deficiency}, 614372 (3)
MMP21	Heterotaxy, visceral, 7, autosomal, 616749 (3)
MYO3A	Deafness, autosomal recessive 30, 607101 (3)
MYPN	Cardiomyopathy, dilated, 1KK, 615248 (3) Cardiomyopathy, familial restrictive, 4, 615248 (3) Cardiomyopathy, hypertrophic, 22, 615248 (3) Nemaline myopathy 11, autosomal recessive, 617336 (3)
NEUROG3	Diarrhea 4, malabsorptive, congenital, 610370 (3)
NFKB2	Immunodeficiency, common variable, 10, 615577 (3)
NHLRC2	FINCA syndrome, 618278 (3)
NKX6-2	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
NT5C2	Spastic paraplegia 45, autosomal recessive, 613162 (3)
OAT	Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
OPTN	{Glaucoma, normal tension, susceptibility to}, 606657 (3) Amyotrophic lateral sclerosis 12, 613435 (3) Glaucoma 1, open angle, E, 137760 (3)
PAX2	Glomerulosclerosis, focal segmental, 7, 616002 (3) Papillorenal syndrome, 120330 (3)
PCDH15	Deafness, autosomal recessive 23, 609533 (3) Usher syndrome, type 1D/F digenic, 601067 (3) Usher syndrome, type 1F, 602083 (3)
PDZD7	Deafness, autosomal recessive 57, 618003 (3) {Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3) Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)
PHYH	Refsum disease, 266500 (3)
PLAU	Quebec platelet disorder, 601709 (3) {Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
PNLIP	?Pancreatic lipase deficiency, 614338 (3)
PRF1	Aplastic anemia, 609135 (3) Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) Lymphoma, non-Hodgkin, 605027 (3)
PTF1A	Pancreatic agenesis 2, 615935 (3) Pancreatic and cerebellar agenesis, 609069 (3)
RBM20	Cardiomyopathy, dilated, 1DD, 613172 (3)
RET	{Hirschsprung disease, protection against}, 142623 (3) {Hirschsprung disease, susceptibility to, 1}, 142623 (3) Central hypoventilation syndrome, congenital, 209880 (3) Medullary thyroid carcinoma, 155240 (3) Multiple endocrine neoplasia IIA, 171400 (3) Multiple endocrine neoplasia IIB, 162300 (3) Pheochromocytoma, 171300 (3)
RGR	Retinitis pigmentosa 44, 613769 (3)
SFTPA2	Pulmonary fibrosis, idiopathic, 178500 (3)
SFXN4	Combined oxidative phosphorylation deficiency 18, 615578 (3)
SGPL1	Nephrotic syndrome, type 14, 617575 (3)
SLC18A2	?Parkinsonism-dystonia, infantile, 2, 618049 (3)
SLC18A3	Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3)
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
SMC3	Cornelia de Lange syndrome 3, 610759 (3)
STOX1	Preeclampsia/eclampsia 4, 609404 (3)
SUFU	Basal cell nevus syndrome, 109400 (3) {Meningioma, familial, susceptibility to}, 607174 (3) Joubert syndrome 32, 617757 (3) Medulloblastoma, desmoplastic, 155255 (3)
SYCE1	?Premature ovarian failure 12, 616947 (3) ?Spermatogenic failure 15, 616950 (3)
TCTN3	Joubert syndrome 18, 614815 (3) Orofaciodigital syndrome IV, 258860 (3)
TUBB8	Oocyte maturation defect 2, 616780 (3)
VCL	Cardiomyopathy, dilated, 1W, 611407 (3) Cardiomyopathy, hypertrophic, 15, 613255 (3)
WDR11	Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
ZFYVE27	Spastic paraplegia 33, autosomal dominant, 610244 (3)
ZMYND11	Mental retardation, autosomal dominant 30, 616083 (3)
ZNF365	{Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)

Genes at Clinical Genomics Database

ABCC2, ADRB1, AKR1C2, ALDH18A1, ALOX5, ANKRD26, BAG3, BICC1, BLNK, BMPR1A, BMS1, CACNB2, CDH23, CDHR1, CHAT, CHUK, CNNM2, COL13A1, COL17A1, COX15, CUBN, CWF19L1, CYP17A1, CYP26C1, CYP2C8, CYP2C9, DHTKD1, ECHS1, EGR2, EMX2, ERCC6, ERLIN1, FAS, FGFR2, FRMD4A, HABP2, HK1, HPSE2, ITGA8, LGI1, LIPA, LIPN, MASTL, MBL2, MMP21, MYO3A, MYPN, NEUROG3, NFKB2, NT5C2, OAT, OPTN, PAX2, PCDH15, PDZD7, PHYH, PLAU, PRF1, PTF1A, RBM20, RET, RGR, SFTPA2, SFXN4, SLC29A3, SMC3, SUFU, SYCE1, TCTN3, TUBB8, VCL, WDR11, ZFYVE27, ZMYND11,

ABCC2	Dubin-Johnson syndrome
ADRB1	Beta-blocker response, association with
AKR1C2	46,XY sex reversal 8
ALDH18A1	Cutis laxa, autosomal dominant 3 Spastic paraplegia 9A, autosomal dominant Cutis laxa, autosomal recessive, type IIIA Spastic paraplegia 9B, autosomal recessive
ALOX5	Asthma, diminished response to antileukotriene treatment in
ANKRD26	Thrombocytopenia 2
BAG3	Cardiomyopathy, dilated, 1HH Myopathy, myofibrillar 6
BICC1	Renal dysplasia, cystic, susceptibility to
BLNK	Agammaglobulinemia 4
BMPR1A	Polyposis syndrome, hereditary mixed, 2 Polyposis, juvenile intestinal
BMS1	Aplasia cutis congenita, nonsyndromic
CACNB2	Brugada syndrome 4
CDH23	Deafness, autosomal recessive 12 Usher syndrome, type 1D Usher syndrome, type 1D /F digenic
CDHR1	Cone-rod dystrophy 15 Retinitis pigmentosa 65
CHAT	Myasthenic syndrome, congenital 6, presynaptic
CHUK	Cocoon syndrome
CNNM2	Hypomagnesemia 6 ,renal
COL13A1	Myasthenic syndrome, congenital, 19
COL17A1	Epithelial recurrent erosion dystrophy (ERED) Epidermolysis bullosa, junctional, non-Herlitz type
COX15	Leigh syndrome Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
CUBN	Megaloblastic anemia-1, Finnish type
CWF19L1	Spinocerebellar ataxia, autosomal recessive 17
CYP17A1	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
CYP26C1	Focal facial dermal dysplasia 4
CYP2C8	Rhabdomyolysis, cerivastatin-induced
CYP2C9	Drug metabolism, CYP2C9-related
DHTKD1	Charcot-Marie-Tooth disease, type 2Q 2-aminoadipic and 2-oxoadipic aciduria
ECHS1	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EGR2	Charcot-Marie-Tooth disease, demyelinating, type 1D Neuropathy, congenital hypomyelinating, 1 Dejerine-Sottas disease
EMX2	Schizencephaly
ERCC6	Xeroderma Pigmentosum-Cockayne Syndrome De Sanctis-Cacchione syndrome Premature ovarian failure 11 (AD)
ERLIN1	Spastic paraplegia 62, autosomal recessive
FAS	Autoimmune lymphoproliferative syndrome, type IA
FGFR2	Lacrimoauriculodentodigital syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Sraniofacial-skeletal-dermatological dysplasia Crouzon syndrome Jackson-Weiss syndrome Pfeiffer syndrome Apert syndrome Beare-Stevenson cutis gyrata syndrome
FRMD4A	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia (Fine-Flusser syndrome)
HABP2	Thyroid cancer, nonmedullary 5
HK1	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HPSE2	Ochoa syndrome Urofacial syndrome 1
ITGA8	Renal agenesis, bilateral
LGI1	Epilepsy, familial temporal lobe, 1
LIPA	Cholesterol ester storage disease Wolman disease
LIPN	Ichthyosis, congenital, autosomal recessive 8
MASTL	Thrombocytopenia 2
MBL2	Mannose-binding protein deficiency
MMP21	Heterotaxy, visceral, 7
MYO3A	Deafness, autosomal recessive 30
MYPN	Cardiomyopathy, dilated, 1KK Cardiomyopathy, familial hypertrophic, 22 Cardiomyopathy, familial restrictive, 4
NEUROG3	Diarrhea 4, malabsorptive, congenital
NFKB2	Immunodeficiency, common variable, 10
NT5C2	Spastic paraplegia 45
OAT	Gyrate atrophy of choroid and retina
OPTN	Glaucoma, normal tension, susceptibility to Glaucoma 1, open angle, E
PAX2	Isolated renal hypoplasia Papillorenal syndrome
PCDH15	Deafness, autosomal recessive 23 Usher syndrome, type 1F Usher syndrome, type 1D/F, digenic
PDZD7	Usher syndrome, type IIC
PHYH	Refsum disease
PLAU	Quebec platelet disorder
PRF1	Hemophagocytic lymphohistiocytosis, familial, 2 Lymphoma, non-Hodgkin Aplastic anemia, adult-onset
PTF1A	Pancreatic and cerebellar agenesis Pancreatic agenesis 2
RBM20	Cardiomyopathy, dilated, 1DD
RET	Central hypoventilation syndrome, congenital Multiple endocrine neoplasia, type IIA Multiple endocrine neoplasia IIB Medullary thyroid carcinoma, familial Pheochromocytoma Hirschsprung disease, susceptibility to 1
RGR	Retinitis pigmentosa 44
SFTPA2	Pulmonary fibrosis, idiopathic
SFXN4	Combined oxidative phosphorylation deficiency 18
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome
SMC3	Cornelia de Lange syndrome 3
SUFU	Medulloblastoma Basal cell nevus syndrome
SYCE1	Premature ovarian failure 12
TCTN3	Joubert syndrome 18 Orofaciodigital syndrome IV (Mohr-Majewski syndrome)
TUBB8	Oocyte maturation defect 2
VCL	Cardiomyopathy, familial hypertrophic 15 Cardiomyopathy, dilated, 1W
WDR11	Hypogonadotropic hypogonadism Kallmann syndrome
ZFYVE27	Spastic paraplegia 33, autosomal dominant
ZMYND11	Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 6867
Number of Genes: 383

Export to: CSV

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ABCC2
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	combined sample_53.variant16	10	rs927344 dbSNP Clinvar	101544447	5299.54	A	T	PASS	1/1	178	NON_SYNONYMOUS_CODING	MODERATE	None	0.99461	0.99460	0.00654	1.00	0.00		None None	None None None None	ABCC2\|0.186653982\|38.2%
	View	combined sample_53.variant16	10	rs3740066 dbSNP Clinvar	101604207	660.22	C	T	PASS	1/1	141	SYNONYMOUS_CODING	LOW	None	0.28814	0.28810	0.33354				None None	None None None None	ABCC2\|0.186653982\|38.2%
ABLIM1
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	combined sample_53.variant16	10	rs2247528 dbSNP Clinvar	116307504	2608.43	A	G	PASS	0/1	148	SYNONYMOUS_CODING	LOW	None	0.78315	0.78310	0.20821				None None	None None None None	ABLIM1\|0.44358146\|18.51%
ADAM12
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	combined sample_53.variant16	10	rs3740199 dbSNP Clinvar	128019025	2715.76	C	G	PASS	1/1	92	NON_SYNONYMOUS_CODING	MODERATE	None	0.00140	0.00140	0.42803	0.33	0.00		None None	None None None None	ADAM12\|0.075293986\|56.23%
	View	combined sample_53.variant16	10	rs1278279 dbSNP Clinvar	127753478	279.14	G	A	PASS	0/1	83	SYNONYMOUS_CODING	LOW	None	0.30272	0.30270	0.25427				None None	None None None None	ADAM12\|0.075293986\|56.23%
	View	combined sample_53.variant16	10	rs2292692 dbSNP Clinvar	127737930	1643.46	G	A	PASS	0/1	136	SYNONYMOUS_CODING	LOW	None	0.12340	0.12340	0.13248				None None	None None None None	ADAM12\|0.075293986\|56.23%
ADAM8
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	combined sample_53.variant16	10	rs2275720 dbSNP Clinvar	135082346	5133.77	A	G	PASS	0/1	244	NON_SYNONYMOUS_CODING	MODERATE	None	0.82428	0.82430	0.19900	0.68	0.01		None None	None None None None	ADAM8\|0.004556093\|86.35%
	View	combined sample_53.variant16	10	rs1131720 dbSNP Clinvar	135085321	3841.47	C	T	PASS	0/1	128	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.84665	0.84660	0.15147				None None	None None None None	ADAM8\|0.004556093\|86.35%
	View	combined sample_53.variant16	10	rs1131719 dbSNP Clinvar	135085426	4283.24	A	G	PASS	0/1	180	SYNONYMOUS_CODING	LOW	None	0.91893	0.91890	0.08042				None None	None None None None	ADAM8\|0.004556093\|86.35%
	View	combined sample_53.variant16	10	rs1131718 dbSNP Clinvar	135085754	3922.06	G	A	PASS	0/1	139	SYNONYMOUS_CODING	LOW	None	0.88359	0.88360	0.12098				None None	None None None None	ADAM8\|0.004556093\|86.35%
	View	combined sample_53.variant16	10	rs3008326 dbSNP Clinvar	135087521	4267.99	G	A	PASS	0/1	223	SYNONYMOUS_CODING	LOW	None	0.72424	0.72420	0.28998				None None	None None None None	ADAM8\|0.004556093\|86.35%
	View	combined sample_53.variant16	10	rs2275725 dbSNP Clinvar	135089035	4043.61	A	G	PASS	0/1	141	NON_SYNONYMOUS_CODING	MODERATE	None	0.90316	0.90320	0.09083	1.00	0.00		None None	None None None None	ADAM8\|0.004556093\|86.35%
ADAMTS14
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	combined sample_53.variant16	10	rs10823607 dbSNP Clinvar	72500763	1944.04	T	C	PASS	0/1	126	NON_SYNONYMOUS_CODING	MODERATE	None	0.79992	0.79990	0.19168	0.32	0.00		None None	None None None None	ADAMTS14\|0.04385867\|64.56%
	View	combined sample_53.variant16	10	rs10999500 dbSNP Clinvar	72500863	1406.14	C	G	PASS	0/1	87	SYNONYMOUS_CODING	LOW	None	0.66713	0.66710	0.38190				None None	None None None None	ADAMTS14\|0.04385867\|64.56%
	View	combined sample_53.variant16	10	rs10999502 dbSNP Clinvar	72503344	2551.79	G	A	PASS	0/1	228	SYNONYMOUS_CODING	LOW	None	0.31150	0.31150	0.19868				None None	None None None None	ADAMTS14\|0.04385867\|64.56%
	View	combined sample_53.variant16	10	rs12774070 dbSNP Clinvar	72513635	1394.35	C	A	PASS	0/1	180	NON_SYNONYMOUS_CODING	MODERATE	None	0.16014	0.16010	0.19512	0.01	0.93		None None	None None None None	ADAMTS14\|0.04385867\|64.56%
	View	combined sample_53.variant16	10	rs2587475 dbSNP Clinvar	72513682	3334.79	C	T	PASS	0/1	154	SYNONYMOUS_CODING	LOW	None	0.52516	0.52520	0.45384				None None	None None None None	ADAMTS14\|0.04385867\|64.56%
	View	combined sample_53.variant16	10	rs6480463 dbSNP Clinvar	72517837	3482.58	C	T	PASS	0/1	123	SYNONYMOUS_CODING	LOW	None	0.51697	0.51700	0.42903				None None	None None None None	ADAMTS14\|0.04385867\|64.56%
	View	combined sample_53.variant16	10	rs10823615 dbSNP Clinvar	72520330	2621.56	A	G	PASS	1/1	313	SYNONYMOUS_CODING	LOW	None	0.00140	0.38600	0.36422				None None	None None None None	ADAMTS14\|0.04385867\|64.56%
	View	combined sample_53.variant16	10	rs10823616 dbSNP Clinvar	72520567	2402.34	A	G	PASS	0/1	256	SYNONYMOUS_CODING	LOW	None	0.24301	0.24300	0.25365				None None	None None None None	ADAMTS14\|0.04385867\|64.56%
ADARB2
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	combined sample_53.variant16	10	rs2271275 dbSNP Clinvar	1230968	342.4	C	T	PASS	0/1	47	NON_SYNONYMOUS_CODING	MODERATE	None	0.54313	0.54310	0.43947	0.25	0.02		None None	None None None None	ADARB2\|0.14627916\|43.56%
	View	combined sample_53.variant16	10	rs78822513 dbSNP Clinvar	1246189	1392.47	C	T	PASS	0/1	142	None	None	None	0.01757	0.01757					None None	None None None None	ADARB2\|0.14627916\|43.56%