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Genes:
ABCC2, ABLIM1, ACADSB, ACBD5, ADAM12, ADAM8, ADAMTS14, ADARB2, ADIRF, ADO, ADRB1, AFAP1L2, AGAP5, AGAP6, AGAP7, AGAP8, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1CL1, AL162407.1, AL359195.1, AL359878.1, AL450307.1, AL603965.1, ALDH18A1, ANK3, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANTXRL, ANXA11, ANXA8L2, APBB1IP, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARMC4, ARMS2, ASAH2C, ATE1, ATRNL1, AVPI1, BAG3, BEND7, BICC1, BMS1, BTBD16, BTRC, C10ORF68, C10orf107, C10orf12, C10orf120, C10orf128, C10orf129, C10orf35, C10orf53, C10orf54, C10orf67, C10orf71, C10orf90, CALHM1, CALHM3, CALML3, CAMK1D, CASP7, CC2D2B, CCAR1, CCDC3, CCDC6, CCDC7, CCNY, CCSER2, CDH23, CDHR1, CELF2, CEP55, CH25H, CHAT, CHST3, CNNM1, CNNM2, COL13A1, COL17A1, COX15, CPEB3, CPXM2, CRTAC1, CTBP2, CTNNA3, CUBN, CUL2, CYP17A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2E1, DCLRE1A, DCLRE1C, DDX50, DHTKD1, DHX32, DIP2C, DKK1, DLG5, DMBT1, DNMBP, DNTT, DOCK1, DPYSL4, DUPD1, DUSP13, DUSP5, EBLN1, ECHDC3, ECHS1, EDRF1, EGR2, EIF3A, EIF4EBP2, ELOVL3, ENO4, ENTPD7, EPC1, ERCC6, ERCC6-PGBD3, EXOC6, FAM13C, FAM160B1, FAM170B, FAM175B, FAM178A, FAM196A, FAM208B, FAM21A, FAM21B, FAM25A, FAM35A, FAM45A, FANK1, FAS, FFAR4, FGFBP3, FGFR2, FRA10AC1, FRG2B, FRMD4A, FRMPD2, FZD8, GBF1, GFRA1, GLRX3, GPAM, GPR123, GPR158, GPR26, GPRIN2, GRK5, GSTO1, GTPBP4, HABP2, HECTD2, HELLS, HIF1AN, HK1, HKDC1, HOGA1, HPS1, HPSE2, HSPA12A, HTRA1, IDI2, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IL15RA, INPP5A, ITGA8, ITGB1, ITIH2, ITIH5, JAKMIP3, JMJD1C, KAT6B, KAZALD1, KCNK18, KIAA1217, KIAA1462, KIF20B, KNDC1, LGI1, LHPP, LIPA, LIPJ, LIPM, LIPN, LOXL4, LRIT1, LRIT2, LRRC27, LYZL1, LYZL2, MALRD1, MAP3K8, MARCH8, MARVELD1, MASTL, MBL2, MEIG1, MGMT, MKI67, MKX, MMP21, MMRN2, MMS19, MPP7, MRC1L1, MSRB2, MTG1, MTPAP, MXI1, MYO3A, MYOF, MYPN, NAMPTL, NCOA4, NDUFB8, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NKX6-2, NOC3L, NODAL, NPFFR1, NPY4R, NRAP, NRG3, NRP1, NT5C2, NUDT5, NUTM2A, NUTM2D, OBFC1, OGDHL, OLAH, OPN4, OPTN, PALD1, PANK1, PAOX, PAPSS2, PARD3, PBLD, PCDH15, PCGF6, PDCD11, PDCD4, PDZD8, PFKFB3, PFKP, PHYH, PHYHIPL, PIK3AP1, PIP4K2A, PITRM1, PKD2L1, PLCE1, PLEKHA1, PLEKHS1, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, PPAPDC1A, PPIF, PPP2R2D, PPP3CB, PRAP1, PRDX3, PRF1, PRKCQ, PRLHR, PROSER2, PRPF18, PRR26, PSAP, PSTK, PTCHD3, PTER, PTF1A, PTPLA, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RASSF4, RBM20, RET, RNLS, RP11-248J23.6, RP11-451M19.3, RPP38, RRP12, RSU1, RTKN2, RUFY2, SEC23IP, SEC31B, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFTPA1, SFTPA2, SFTPD, SFXN4, SGPL1, SH2D4B, SH3PXD2A, SLC16A9, SLC18A3, SLC29A3, SLC39A12, SLIT1, SLK, SMC3, SORBS1, SORCS1, SORCS3, SPOCK2, SPRN, SRGN, ST8SIA6, STK32C, STOX1, SUPV3L1, SVIL, SYCE1, SYT15, TACC2, TACR2, TAF5, TBATA, TBC1D12, TCERG1L, TCF7L2, TET1, TEX36, THNSL1, TIMM23, TMEM180, TMEM254, TMEM72, TTC40, TUBAL3, TUBB8, TUBGCP2, TYSND1, UBE2D1, UCMA, UNC5B, USP6NL, UTF1, VENTX, VSTM4, WAPAL, WBP1L, WDFY4, WDR11, WDR37, WNT8B, ZFAND4, ZFYVE27, ZMYND11, ZNF239, ZNF33B, ZNF365, ZNF37A, ZNF487, ZNF488, ZRANB1, ZWINT,

+ Genes associated with diseases 88

Genes at Omim

ABCC2, ACADSB, ADRB1, AKR1C2, AKR1C4, ALDH18A1, ANK3, ANKRD26, ANXA11, ARL3, ARMC4, BAG3, BICC1, BMS1, CDH23, CDHR1, CEP55, CHAT, CHST3, CNNM2, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP17A1, CYP26C1, CYP2C8, DCLRE1C, DHTKD1, ECHS1, EGR2, ERCC6, FAS, FFAR4, FGFR2, FRMD4A, HABP2, HELLS, HK1, HOGA1, HPS1, HPSE2, HTRA1, ITGA8, KAT6B, KCNK18, LGI1, LIPA, LIPN, MAP3K8, MBL2, MMP21, MTPAP, MXI1, MYO3A, MYPN, NDUFB8, NEUROG3, NFKB2, NKX6-2, NODAL, NT5C2, OPTN, PAPSS2, PCDH15, PHYH, PLCE1, PNLIP, PRF1, PSAP, PTF1A, RBM20, RET, SFTPA2, SFXN4, SGPL1, SLC18A3, SLC29A3, SMC3, STOX1, SYCE1, TCF7L2, TUBB8, WDR11, ZFYVE27, ZMYND11, ZNF365,

ABCC2	Dubin-Johnson syndrome, 237500 (3)
ACADSB	2-methylbutyrylglycinuria, 610006 (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)
ANK3	?Mental retardation, autosomal recessive, 37, 615493 (3)
ANKRD26	Thrombocytopenia 2, 188000 (3)
ANXA11	Amytrophic lateral sclerosis 23, 617839 (3)
ARL3	Joubert syndrome 35, 618161 (3) ?Retinitis pigmentosa 83, 618173 (3)
ARMC4	Ciliary dyskinesia, primary, 23, 615451 (3)
BAG3	Cardiomyopathy, dilated, 1HH, 613881 (3) Myopathy, myofibrillar, 6, 612954 (3)
BICC1	{Renal dysplasia, cystic, susceptibility to}, 601331 (3)
BMS1	?Aplasia cutis congenita, nonsyndromic, 107600 (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)
CHST3	Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (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)
CTNNA3	Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)
CUBN	Megaloblastic anemia-1, Finnish type, 261100 (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)
DCLRE1C	Omenn syndrome, 603554 (3) Severe combined immunodeficiency, Athabascan type, 602450 (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)
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)
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)
HABP2	{Venous thromboembolism, susceptibility to}, 188050 (3) {?Thyroid cancer, nonmedullary, 5}, 616535 (3)
HELLS	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3)
HK1	Hemolytic anemia due to hexokinase deficiency, 235700 (3) Neuropathy, hereditary motor and sensory, Russe type, 605285 (3) Retinitis pigmentosa 79, 617460 (3)
HOGA1	Hyperoxaluria, primary, type III, 613616 (3)
HPS1	Hermansky-Pudlak syndrome 1, 203300 (3)
HPSE2	Urofacial syndrome 1, 236730 (3)
HTRA1	CARASIL syndrome, 600142 (3) Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3) {Macular degeneration, age-related, 7}, 610149 (3) {Macular degeneration, age-related, neovascular type}, 610149 (3)
ITGA8	Renal hypodysplasia/aplasia 1, 191830 (3)
KAT6B	Genitopatellar syndrome, 606170 (3) SBBYSS syndrome, 603736 (3)
KCNK18	{Migraine, with or without aura, susceptibility to, 13}, 613656 (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)
MTPAP	?Spastic ataxia 4, autosomal recessive, 613672 (3)
MXI1	Neurofibrosarcoma, somatic (3) Prostate cancer, somatic, 176807 (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)
NDUFB8	Mitochondrial complex I deficiency, nuclear type 32, 618252 (3)
NEUROG3	Diarrhea 4, malabsorptive, congenital, 610370 (3)
NFKB2	Immunodeficiency, common variable, 10, 615577 (3)
NKX6-2	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
NODAL	Heterotaxy, visceral, 5, 270100 (3)
NT5C2	Spastic paraplegia 45, autosomal recessive, 613162 (3)
OPTN	{Glaucoma, normal tension, susceptibility to}, 606657 (3) Amyotrophic lateral sclerosis 12, 613435 (3) Glaucoma 1, open angle, E, 137760 (3)
PAPSS2	Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)
PCDH15	Deafness, autosomal recessive 23, 609533 (3) Usher syndrome, type 1D/F digenic, 601067 (3) Usher syndrome, type 1F, 602083 (3)
PHYH	Refsum disease, 266500 (3)
PLCE1	Nephrotic syndrome, type 3, 610725 (3)
PNLIP	?Pancreatic lipase deficiency, 614338 (3)
PRF1	Aplastic anemia, 609135 (3) Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) Lymphoma, non-Hodgkin, 605027 (3)
PSAP	Gaucher disease, atypical, 610539 (3) Combined SAP deficiency, 611721 (3) Krabbe disease, atypical, 611722 (3) Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (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)
SFTPA2	Pulmonary fibrosis, idiopathic, 178500 (3)
SFXN4	Combined oxidative phosphorylation deficiency 18, 615578 (3)
SGPL1	Nephrotic syndrome, type 14, 617575 (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)
SYCE1	?Premature ovarian failure 12, 616947 (3) ?Spermatogenic failure 15, 616950 (3)
TCF7L2	{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
TUBB8	Oocyte maturation defect 2, 616780 (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, ACADSB, ADRB1, AKR1C2, ALDH18A1, ANKRD26, ARMC4, BAG3, BICC1, BMS1, CDH23, CDHR1, CHAT, CHST3, CNNM2, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP17A1, CYP26C1, CYP2C19, CYP2C8, DCLRE1C, DHTKD1, ECHS1, EGR2, ERCC6, FAS, FGFR2, FRMD4A, HABP2, HELLS, HK1, HOGA1, HPS1, HPSE2, HTRA1, ITGA8, KAT6B, KCNK18, LGI1, LIPA, LIPN, MASTL, MBL2, MMP21, MTPAP, MYO3A, MYPN, NEUROG3, NFKB2, NODAL, NT5C2, OPTN, PAPSS2, PCDH15, PHYH, PLCE1, PRF1, PSAP, PTF1A, RBM20, RET, SFTPA2, SFXN4, SLC29A3, SMC3, SYCE1, TUBB8, WDR11, ZFYVE27, ZMYND11,

ABCC2	Dubin-Johnson syndrome
ACADSB	2-methylbutyryl-CoA dehydrogenase deficiency
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
ANKRD26	Thrombocytopenia 2
ARMC4	Ciliary dyskinesia, primary, 23
BAG3	Cardiomyopathy, dilated, 1HH Myopathy, myofibrillar 6
BICC1	Renal dysplasia, cystic, susceptibility to
BMS1	Aplasia cutis congenita, nonsyndromic
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
CHST3	Spondyloepiphyseal dysplasia with congenital joint dislocations
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
CTNNA3	Arrhythmogenic right ventricular dysplasia, familial, 13
CUBN	Megaloblastic anemia-1, Finnish type
CYP17A1	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
CYP26C1	Focal facial dermal dysplasia 4
CYP2C19	Drug metabolism, CYP2C19-related
CYP2C8	Rhabdomyolysis, cerivastatin-induced
DCLRE1C	Omenn syndrome Severe combined immunodeficiency with sensitivity to ionizing radiation
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
ERCC6	Xeroderma Pigmentosum-Cockayne Syndrome De Sanctis-Cacchione syndrome Premature ovarian failure 11 (AD)
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
HELLS	Immunodeficiency-centromeric instability-facial anomalies syndrome 4
HK1	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HOGA1	Hyperoxaluria, primary, type III
HPS1	Hermansky-Pudlak syndrome 1
HPSE2	Ochoa syndrome Urofacial syndrome 1
HTRA1	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 (CADASIL2) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
ITGA8	Renal agenesis, bilateral
KAT6B	Ohdo syndrome, SBBYS variant Genitopatellar syndrome
KCNK18	Migraine, with or without aura, susceptibility to, 13
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
MTPAP	Spastic ataxia 4, autosomal recessive
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
NODAL	Heterotaxy, visceral, 5
NT5C2	Spastic paraplegia 45
OPTN	Glaucoma, normal tension, susceptibility to Glaucoma 1, open angle, E
PAPSS2	Brachyolmia 4 with mild epiphyseal and metaphyseal changes
PCDH15	Deafness, autosomal recessive 23 Usher syndrome, type 1F Usher syndrome, type 1D/F, digenic
PHYH	Refsum disease
PLCE1	Nephrotic syndrome, type 3
PRF1	Hemophagocytic lymphohistiocytosis, familial, 2 Lymphoma, non-Hodgkin Aplastic anemia, adult-onset
PSAP	Krabbe disease, atypical Combined saposin deficiency Gaucher disease, atypical, due to saposin C deficiency Metachromatic leukodystrophy due to saposin-b deficiency
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
SFTPA2	Pulmonary fibrosis, idiopathic
SFXN4	Combined oxidative phosphorylation deficiency 18
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome
SMC3	Cornelia de Lange syndrome 3
SYCE1	Premature ovarian failure 12
TUBB8	Oocyte maturation defect 2
WDR11	Hypogonadotropic hypogonadism Kallmann syndrome
ZFYVE27	Spastic paraplegia 33, autosomal dominant
ZMYND11	Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 3498
Number of Genes: 395

Export to: CSV

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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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	4877814	1456.73	TT...	TT...	PASS	1/1	34	None	None	None							None None	None None None None	AKR1E2\|0.003819928\|87.28%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	122648750	465.73	TT...	TT...	PASS	0/1	21	None	None	None							None None	None None None None	WDR11\|0.176317325\|39.5%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	11356093	810.73	TTTT	TT...	PASS	1/1	17	None	None	None							None None	None None None None	CELF2\|0.969616641\|1.73%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	124189010	124.73	TT...	TT...	PASS	0/1	14	None	None	None							None None	None None None None	PLEKHA1\|0.447001935\|18.3%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	127529756	296.73	TT...	TT...	PASS	0/1	23	None	None	None							None None	None None None None	BCCIP\|0.046273094\|63.82%,DHX32\|0.022278937\|73.05%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	88458996	195.73	TT...	TT...	PASS	0/1	10	None	None	None							None None	None None None None	LDB3\|0.330839914\|25.44%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	104230930	2663.73	TT...	TTC	PASS	1/1	49	None	None	None							None None	None None None None	TMEM180\|0.184381022\|38.41%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	61122268	2527.73	TG	TTAG	PASS	1/1	52	None	None	None							None None	None None None None	FAM13C\|0.181731447\|38.82%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	99219404	1708.73	TGT	TT	PASS	0/1	81	None	None	None							None None	None None None None	MMS19\|0.323394066\|25.93%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	43280055	30.47	TTCT	TT	PASS	0/1	23	None	None	None							None None	None None None None	BMS1\|0.150591768\|42.91%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	98901438	680.73	TG...	TG...	PASS	1/1	9	None	None	None							None None	None None None None	SLIT1\|0.322819079\|25.97%,ARHGAP19-SLIT1\|0.508518585\|15.45%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	71868601	559.73	TGT	TGGT	PASS	1/1	15	None	None	None							None None	None None None None	H2AFY2\|0.622928652\|11.03%,AIFM2\|0.142363482\|44.1%
PLXDC2
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	20105996	1258.73	TG...	TG...	PASS	0/1	52	None	None	None							None None	None None None None	PLXDC2\|0.401730057\|20.65%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	102770293	2070.73	TG...	TG...	PASS	0/1	91	None	None	None							None None	None None None None	PDZD7\|0.166478765\|40.77%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	118466659	290.73	TG...	TG...	PASS	1/1	11	None	None	None							None None	None None None None	HSPA12A\|0.32170374\|26.03%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	100991971	48.58	TA...	TG...	PASS	2/2	3	None	None	None							None None	None None None None	HPSE2\|0.895466364\|3.52%
RBM20
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	112404334	371.73	TG...	TG...	PASS	0/1	25	None	None	None							None None	None None None None	RBM20\|0.153666147\|42.46%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	13489148	55.73	TG...	TG...	PASS	0/1	13	None	None	None							None None	None None None None	BEND7\|0.19658774\|37.1%
PITRM1
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	3208567	300.31	TG...	TG...	PASS	1/1	14	None	None	None							None None	None None None None	PITRM1\|0.017462354\|75.61%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	117856379	391.74	TG...	TG...	PASS	1/1	9	None	None	None							None None	None None None None	GFRA1\|0.934619361\|2.66%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	51051526	883.73	TG...	TGAG	PASS	0/1	30	None	None	None							None None	None None None None	PARG\|0.261507783\|30.62%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	3193557	1000.73	TA...	TG	PASS	0/1	50	None	None	None							None None	None None None None	PITRM1\|0.017462354\|75.61%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	134997524	2944.73	TC	TC...	PASS	1/1	64	None	None	None							None None	None None None None	KNDC1\|0.003991691\|87.04%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	105815202	212.27	TC...	TC...	PASS	0/2	12	None	None	None							None None	None None None None	COL17A1\|0.220252717\|34.39%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	121596290	33.47	TT...	TC,T	PASS	0/1	5	None	None	None							None None	None None None None	MCMBP\|0.269919221\|29.89%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	94826081	1512.73	TC...	TC...	PASS	1/1	31	None	None	None							None None	None None None None	CYP26C1\|0.180777393\|38.94%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	97920099	1083.73	TCT	TCCT	PASS	1/1	23	None	None	None							None None	None None None None	None
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	135105955	575.9	TC...	TC...	PASS	3/3	7	None	None	None							None None	None None None None	TUBGCP2\|0.131452902\|45.7%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	103904763	2148.73	TC...	TC...	PASS	1/1	58	None	None	None							None None	None None None None	PPRC1\|0.142943486\|44%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	116075271	2075.73	TCCCC	TC...	PASS	1/1	39	None	None	None							None None	None None None None	AFAP1L2\|0.092781823\|52.66%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	135105979	903.79	TCCCC	TC...	PASS	0/1	17	None	None	None							None None	None None None None	TUBGCP2\|0.131452902\|45.7%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	135105961	28.53	TCCCC	TC...	PASS	1/1	7	None	None	None							None None	None None None None	TUBGCP2\|0.131452902\|45.7%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	61802577	246.75	TCC	TCCC	PASS	1/1	8	None	None	None							None None	None None None None	ANK3\|0.919303788\|3%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	135270837	429.73	TCCCC	TCCC	PASS	0/1	38	None	None	None							None None	None None None None	SPRN\|0.004340936\|86.55%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	129046174	396.73	TCCC	TCC	PASS	0/1	19	None	None	None							None None	None None None None	DOCK1\|0.111166012\|48.98%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	51623956	324.45	TCAG	TC...	PASS	1/1	98	None	None	None							None None	None None None None	None
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	104459079	986.73	TAAC	TC	PASS	1/1	18	None	None	None							None None	None None None None	ARL3\|0.573752246\|12.86%
ITIH5
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	7605077	3670.73	TCC	TC	PASS	1/1	72	None	None	None							None None	None None None None	ITIH5\|0.026992759\|70.89%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	28142294	22.5	TA...	TA...	PASS	1/1	1	None	None	None							None None	None None None None	ARMC4\|0.02617115\|71.23%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	461647	694.73	TA...	TAT	PASS	0/1	20	None	None	None							None None	None None None None	DIP2C\|0.162764549\|41.18%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	5200739	592.73	TAG	TA...	PASS	1/1	13	None	None	None							None None	None None None None	None
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	55590942	714.73	TA...	TA...	PASS	1/1	17	None	None	None							None None	None None None None	PCDH15\|0.362630211\|23.23%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	15650401	176.8	TA...	TA...	PASS	1/1	6	None	None	None							None None	None None None None	ITGA8\|0.264027504\|30.37%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	33093858	530.73	TA...	TA...	PASS	0/1	31	None	None	None							None None	None None None None	None
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	105797989	730.73	TA...	TA...	PASS	1/1	19	None	None	None							None None	None None None None	COL17A1\|0.220252717\|34.39%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	50856772	514.73	TA...	TA...	PASS	1/1	17	None	None	None							None None	None None None None	CHAT\|0.652613184\|10%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	55892600	190.73	TA...	TA...	PASS	0/1	15	None	None	None							None None	None None None None	PCDH15\|0.362630211\|23.23%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	27702042	268.73	TC	TAC	PASS	0/1	15	None	None	None							None None	None None None None	PTCHD3\|0.001856639\|91.39%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	32307534	349.74	TAT	TA...	PASS	1/1	7	None	None	None							None None	None None None None	KIF5B\|0.527503346\|14.67%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	64914016	129.73	TAC	TAAC	PASS	0/1	13	None	None	None							None None	None None None None	NRBF2\|0.163128222\|41.12%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	28259936	10.84	TA...	TA...	PASS	0/1	4	None	None	None							None None	None None None None	ARMC4\|0.02617115\|71.23%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	13541724	2400.73	TA	TA...	PASS	0/1	86	None	None	None							None None	None None None None	BEND7\|0.19658774\|37.1%
CYP2C8
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	96827119	1927.73	TA...	TA...	PASS	1/1	56	None	None	None							None None	None None None None	CYP2C8\|0.004045398\|86.94%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	18834797	65.0	TA...	TA...	PASS	2/2	6	None	None	None							None None	None None None None	NSUN6\|0.06690049\|58.17%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	84586960	23.02	TA...	TA...	PASS	1/1	5	None	None	None							None None	None None None None	NRG3\|0.639477829\|10.48%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	26359200	175.73	TAA	TAAA	PASS	0/1	19	None	None	None							None None	None None None None	MYO3A\|0.317182273\|26.3%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	32307536	134.53	TA	TAA	PASS	1/1	7	None	None	None							None None	None None None None	KIF5B\|0.527503346\|14.67%
RTKN2
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	.	63976912	143.0	TA...	TA	PASS	0/1	4	None	None	None							None None	None None None None	RTKN2\|0.169836183\|40.34%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs4750175 dbSNP Clinvar	12200125	327.77	C	T	PASS	0/1	27	None	None	None	0.42272	0.42270	0.39577				None None	None None None None	SEC61A2\|0.374473339\|22.44%
DUSP13
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs3088142 dbSNP Clinvar	76854564	2237.77	C	T	PASS	0/1	157	None	None	None	0.64177	0.64180	0.49516	1.00	0.00	0.10	None None	None None None None	DUSP13\|0.067435688\|58.05%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs1367290 dbSNP Clinvar	77312184	19.36	C	T	PASS	0/1	7	None	None	None	0.47504	0.47500					None None	None None None None	None
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs11196939 dbSNP Clinvar	116593175	417.77	C	T	PASS	0/1	38	None	None	None	0.34944	0.34940	0.42404				None None	None None None None	FAM160B1\|0.218983196\|34.48%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs805699 dbSNP Clinvar	105817043	1241.77	C	T	PASS	1/1	30	None	None	None	0.88718	0.88720					None None	None None None None	COL17A1\|0.220252717\|34.39%
MALRD1
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs10827499 dbSNP Clinvar	19780543	3171.77	C	T	PASS	1/1	76	None	None	None	0.25499	0.25500					None None	None None None None	MALRD1\|0.023114919\|72.62%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs2497668 dbSNP Clinvar	116373275	192.77	C	T	PASS	0/1	18	None	None	None	0.19269	0.19270					None None	None None None None	ABLIM1\|0.44358146\|18.51%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs2804535 dbSNP Clinvar	76971844	1394.77	C	T	PASS	1/1	37	None	None	None	0.67332	0.67330					None None	None None None None	VDAC2\|0.777373337\|6.38%
AFAP1L2
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs3813722 dbSNP Clinvar	116073696	1162.77	C	T	PASS	0/1	70	None	None	None	0.58486	0.58490	0.42019				None None	None None None None	AFAP1L2\|0.092781823\|52.66%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs869574 dbSNP Clinvar	72293850	611.77	C	T	PASS	0/1	46	None	None	None	0.20467	0.20470	0.07689				None None	None None None None	PALD1\|0.038632473\|66.24%
AKR1C3
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs4881396 dbSNP Clinvar	5120157	174.84	G	T	PASS	1/1	5	None	None	None	0.87201	0.87200		0.71	0.04	-0.35	None None	None None None None	AKR1C3\|0.002438134\|89.81%
CDH23
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs2166631 dbSNP Clinvar	73472882	1276.77	C	T	PASS	0/1	106	None	None	None	0.44129	0.44130	0.34550	0.95	0.00		None None	None None None None	CDH23\|0.499757104\|15.83%,C10orf105\|0.03223183\|68.5%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs548778596 dbSNP Clinvar	116057187	1068.77	A	T	PASS	0/1	78	None	None	None	0.00020	0.00020					None None	None None None None	AFAP1L2\|0.092781823\|52.66%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs3802713 dbSNP Clinvar	73483645	856.77	C	T	PASS	0/1	46	None	None	None	0.18870	0.18870					None None	None None None None	CDH23\|0.499757104\|15.83%,C10orf105\|0.03223183\|68.5%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs676302 dbSNP Clinvar	13167860	322.77	G	T	PASS	0/1	17	None	None	None	0.80771	0.80770					None None	None None None None	OPTN\|0.403602924\|20.54%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs7090944 dbSNP Clinvar	13206233	368.77	A	T	PASS	0/1	19	None	None	None	0.79693	0.79690	0.25173				None None	None None None None	MCM10\|0.033062019\|68.13%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs2496601 dbSNP Clinvar	20841150	804.77	C	T	PASS	1/1	22	None	None	None	0.51198	0.51200					None None	None None None None	None
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs10787521 dbSNP Clinvar	116044587	707.77	C	T	PASS	0/1	45	None	None	None	0.41653	0.41650	0.34354				None None	None None None None	VWA2\|0.096363159\|51.86%
NEBL
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs1006363 dbSNP Clinvar	21108377	372.77	C	T	PASS	0/1	28	None	None	None	0.18371	0.18370	0.22105				None None	None None None None	NEBL\|0.384110937\|21.79%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs2147279 dbSNP Clinvar	13212884	776.77	C	T	PASS	0/1	47	None	None	None	0.70188	0.70190	0.19546				None None	None None None None	MCM10\|0.033062019\|68.13%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs3765520 dbSNP Clinvar	13224886	142.77	G	T	PASS	0/1	14	None	None	None	0.28934	0.28930	0.28879				None None	None None None None	MCM10\|0.033062019\|68.13%
CELF2
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs2277212 dbSNP Clinvar	11299735	1979.77	A	T	PASS	1/1	49	None	None	None	0.78115	0.78120	0.25839				None None	None None None None	CELF2\|0.969616641\|1.73%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs376850020 dbSNP Clinvar	116227970	335.77	C	T	PASS	0/1	17	None	None	None	0.00399	0.00399	0.00008				None None	None None None None	ABLIM1\|0.44358146\|18.51%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs10886798 dbSNP Clinvar	122664388	430.77	C	T	PASS	0/1	26	None	None	None	0.39277	0.39280					None None	None None None None	WDR11\|0.176317325\|39.5%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs2928118 dbSNP Clinvar	119793629	822.77	C	T	PASS	1/1	20	None	None	None	0.97324	0.97320					None None	None None None None	RAB11FIP2\|0.486085442\|16.5%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs41277378 dbSNP Clinvar	21806858	256.77	C	T	PASS	0/1	15	None	None	None	0.00220	0.00220					None None	None None None None	SKIDA1\|0.439515262\|18.69%
RAB11FIP2
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs7923321 dbSNP Clinvar	119768551	1093.77	C	T	PASS	1/1	25	None	None	None	0.78754	0.78750	0.11487				None None	None None None None	RAB11FIP2\|0.486085442\|16.5%
EBLN1
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs838759 dbSNP Clinvar	22498468	717.77	C	T	PASS	0/1	39	None	None	None	0.22624	0.22620		0.08	0.01	0.92	None None	None None None None	EBLN1\|0.002252414\|90.27%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs61874342 dbSNP Clinvar	120907203	925.77	C	T	PASS	1/1	23	None	None	None	0.14756	0.14760					None None	None None None None	SFXN4\|0.002170967\|90.51%
PDZD8
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs363294 dbSNP Clinvar	119043554	318.77	C	T	PASS	0/1	29	None	None	None	0.03255	0.03255	0.04106	0.03	0.01	2.17	None None	None None None None	PDZD8\|0.139957953\|44.4%
EIF4EBP2
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs1043098 dbSNP Clinvar	72179746	514.77	C	T	PASS	0/1	42	None	None	None	0.51278	0.51280	0.46679				None None	None None None None	EIF4EBP2\|0.323339396\|25.93%
BAG3
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs3858340 dbSNP Clinvar	121436286	1208.77	C	T	PASS	0/1	57	None	None	None	0.15555	0.15560	0.11572	0.06	0.10	3.24	None None	None None None None	BAG3\|0.07885075\|55.47%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs12763538 dbSNP Clinvar	105800321	163.77	C	T	PASS	0/1	13	None	None	None	0.69289	0.69290					None None	None None None None	COL17A1\|0.220252717\|34.39%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs6585524 dbSNP Clinvar	120818609	852.77	C	T	PASS	1/1	23	None	None	None	0.97804	0.97800					None None	None None None None	EIF3A\|0.508816546\|15.43%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs2765997 dbSNP Clinvar	22896779	24.78	C	T	PASS	0/1	6	None	None	None	0.76937	0.76940					None None	None None None None	PIP4K2A\|0.404416464\|20.5%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs363293 dbSNP Clinvar	119042761	1708.77	C	T	PASS	1/1	42	None	None	None	0.94689	0.94690	0.05351				None None	None None None None	PDZD8\|0.139957953\|44.4%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs75487802 dbSNP Clinvar	7798033	103.77	A	T	PASS	0/1	11	None	None	None	0.07029	0.07029	0.01186				None None	None None None None	KIN\|0.532131906\|14.5%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs10796042 dbSNP Clinvar	13275691	988.77	G	T	PASS	0/1	70	None	None	None	0.28734	0.28730	0.40343				None None	None None None None	UCMA\|0.036646074\|66.92%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs2900990 dbSNP Clinvar	115537960	826.77	C	T	PASS	1/1	20	None	None	None	0.32149	0.32150					None None	None None None None	PLEKHS1\|0.008800242\|81.86%
MXI1
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs61745504 dbSNP Clinvar	111987960	793.77	C	T	PASS	0/1	54	None	None	None	0.05012	0.05012	0.05205				None None	None None None None	MXI1\|0.818546253\|5.35%
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	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs11133 dbSNP Clinvar	13320236	330.77	C	T	PASS	0/1	18	None	None	None	0.23642	0.23640	0.28625				None None	None None None None	PHYH\|0.021009347\|73.67%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	10	rs825625 dbSNP Clinvar	13320411	472.77	A	T	PASS	1/1	13	None	None	None	0.95188	0.95190	0.04490				None None	None None None None	PHYH\|0.021009347\|73.67%

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+ Genes 395

+ Genes associated with diseases 88

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

PLXDC2

RBM20

PITRM1

ITIH5

CYP2C8

RTKN2

DUSP13

MALRD1

AFAP1L2

AKR1C3

CDH23

NEBL

CELF2

ABLIM1

RAB11FIP2

EBLN1

PDZD8

EIF4EBP2

BAG3

MXI1

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