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Genes:
AC008686.1, AC012123.1, AC074212.3, ADAD2, ADAMTS2, ADAMTS8, ADAMTSL1, ADRA2C, AIM2, AL645922.1, ALMS1, ANKS1A, ANLN, ANTXRL, APOB, ARID1B, ASB10, ASCC2, ASCL1, ASPN, ATP8B3, ATXN1, ATXN2, ATXN3, ATXN7, AXDND1, BAIAP2L2, BCL6B, BEND3, BHLHE22, BLM, BPTF, C11orf80, C22orf34, C2CD3, C5orf15, C6orf223, CABP1, CACNA1A, CASZ1, CBS, CBX4, CCBL1, CCDC129, CCDC40, CCNB2, CD163L1, CD34, CDCP2, CECR5, CHRNA3, CHST15, CHST5, CKAP4, CNDP1, CNOT1, COCH, COL18A1, COL2A1, CREB3, CTBS, CTSA, DACH1, DCAF8L2, DCP1B, DDHD2, DENND4B, DENND5B, DHX32, DIAPH1, DNAH1, DNHD1, DOCK7, DSPP, DUX4L4, ECHDC2, EIF2AK3, ELMOD3, ENAH, EP400, ERAP1, EXOC3L4, EXOG, FAM228A, FAM46A, FAM47A, FARP1, FBN2, FBXO2, FCRLB, FECH, FMN2, FMNL1, FNBP1L, FOXE1, FSTL4, GATA6, GDF1, GK5, GNB2L1, GP6, GRM7, GYS2, HCN2, HEXA, HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1, HLA-DRB5, HOMEZ, HOXD9, HPR, HRC, HRNR, HSPA9, HTR1F, HTT, ICA1, ICA1L, IGFN1, IGHJ6, IGHV3-33, IGSF3, IRF2BPL, ITGB1BP1, KATNAL2, KCNMA1, KDM6B, KIAA0430, KIAA1239, KIAA2018, KIF1A, KLB, KPNA7, KRI1, KRT1, KRT18, KRT76, KRTAP5-9, KRTAP9-1, L1TD1, LARS, LFNG, LGR6, LINC00955, LOR, LRP8, LTBP3, MAFA, MAGEC1, MAMDC4, MAML2, MAML3, MANEA, MAP3K1, MAP3K4, MCC, MDN1, MED15, MEGF8, MEGF9, MEOX2, MESP2, MIS18A, MNS1, MPRIP, MROH8, MUC4, MYF5, NADK, NAP1L2, NCL, NCOA3, NCOA4, NCOR2, NIPA1, NKX1-1, NME9, NOC2L, NOP9, NOS3, NOTCH4, NT5DC2, NUDT18, OGFR, OR2T2, OR2T35, OR2T4, OR6C65, OR6C76, OR7E24, ORAI1, OTUD7A, PABPC3, PAK1, PAPPA-AS1, PCDH12, PCDHB14, PCNT, PCSK5, PDE4DIP, PDHA1, PIM3, PITRM1, PLBD1, PLCZ1, PLEKHG5, PLIN4, PODXL, POU4F2, PPFIA3, PPM1E, PPP1R15A, PRDM13, PRKCSH, PRPF18, PSMG4, PSORS1C1, PTH2, PTPRS, RAD23B, RAI1, RBM12, RBM23, RBM5, RBM6, RBMX, RGS19, RNF212, ROM1, RP11-1407O15.2, RP11-181C3.1, RP1L1, RPL14, RPS3A, SALL1, SCN5A, SCUBE2, SDK2, SEPT12, SGK223, SHB, SHROOM4, SLC22A9, SLC7A14, SMPD1, SNAPC4, SNUPN, SPATA9, SRRD, SSC5D, SUCO, SUMF2, SYCP1, TATDN3, TCF7L1, TCOF1, TIMELESS, TIMM44, TMEM219, TMEM229A, TMEM245, TMEM61, TMIE, TMOD1, TNFAIP6, TNRC6B, TRAF2, TRAK1, TRDV2, TRIM5, TRIOBP, TRPM5, TTL, TULP1, UBE2E1, UBXN11, UGGT2, UNKL, UTY, VANGL1, VCX, VCX2, VCX3A, VCX3B, VEZF1, VKORC1L1, WDR76, ZCWPW2, ZDHHC1, ZFHX3, ZFHX4, ZIC5, ZNF141, ZNF337, ZNF384, ZNF598, ZNF66, ZNF69, ZNF787, ZSWIM6,

+ Genes associated with diseases 96

Genes at Omim

ADAMTS2, ADRA2C, ALMS1, ANLN, APOB, ARID1B, ASB10, ASCL1, ASPN, ATXN1, ATXN2, ATXN3, ATXN7, BPTF, C2CD3, CACNA1A, CBS, CCDC40, CHRNA3, COCH, COL18A1, COL2A1, CTSA, DDHD2, DIAPH1, DNAH1, DOCK7, DSPP, EIF2AK3, ELMOD3, FBN2, FECH, FMN2, FOXE1, GATA6, GDF1, GP6, GYS2, HEXA, HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1, HSPA9, HTT, IGSF3, IRF2BPL, KCNMA1, KIF1A, KRT1, KRT18, LARS, LFNG, LOR, LRP8, LTBP3, MAFA, MAML2, MAP3K1, MCC, MEGF8, MESP2, MYF5, NIPA1, NOS3, ORAI1, PAK1, PCDH12, PCNT, PDHA1, PLCZ1, PLEKHG5, PRKCSH, RAI1, RBM12, RBMX, RNF212, ROM1, RP1L1, SALL1, SCN5A, SEPT12, SHROOM4, SLC7A14, SMPD1, TCOF1, TMIE, TRAK1, TRIOBP, TULP1, VANGL1, ZFHX3, ZFHX4, ZNF141, ZSWIM6,

ADAMTS2	Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3)
ADRA2C	{Congestive heart failure and beta-blocker response, modifier of} (3)
ALMS1	Alstrom syndrome, 203800 (3)
ANLN	Focal segmental glomerulosclerosis 8, 616032 (3)
APOB	Hypercholesterolemia, due to ligand-defective apo B, 144010 (3) Hypobetalipoproteinemia, 615558 (3)
ARID1B	Coffin-Siris syndrome 1, 135900 (3)
ASB10	Glaucoma 1, open angle, F, 603383 (3)
ASCL1	Haddad syndrome, 209880 (3) Central hypoventilation syndrome, congenital, 209880 (3)
ASPN	{Lumbar disc degeneration}, 603932 (3) {Osteoarthritis susceptibility 3}, 607850 (3)
ATXN1	Spinocerebellar ataxia 1, 164400 (3)
ATXN2	{Parkinson disease, late-onset, susceptibility to}, 168600 (3) Spinocerebellar ataxia 2, 183090 (3) {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
ATXN3	Machado-Joseph disease, 109150 (3)
ATXN7	Spinocerebellar ataxia 7, 164500 (3)
BPTF	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3)
C2CD3	?Orofaciodigital syndrome XIV, 615948 (3)
CACNA1A	Epileptic encephalopathy, early infantile, 42, 617106 (3) Episodic ataxia, type 2, 108500 (3) Migraine, familial hemiplegic, 1, 141500 (3) Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) Spinocerebellar ataxia 6, 183086 (3)
CBS	Homocystinuria, B6-responsive and nonresponsive types, 236200 (3) Thrombosis, hyperhomocysteinemic, 236200 (3)
CCDC40	Ciliary dyskinesia, primary, 15, 613808 (3)
CHRNA3	{Lung cancer susceptibility 2}, 612052 (3)
COCH	Deafness, autosomal dominant 9, 601369 (3) ?Deafness, autosomal recessive 110, 618094 (3)
COL18A1	Knobloch syndrome, type 1, 267750 (3)
COL2A1	Avascular necrosis of the femoral head, 608805 (3) Achondrogenesis, type II or hypochondrogenesis, 200610 (3) Czech dysplasia, 609162 (3) Legg-Calve-Perthes disease, 150600 (3) Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) Kniest dysplasia, 156550 (3) Osteoarthritis with mild chondrodysplasia, 604864 (3) Platyspondylic skeletal dysplasia, Torrance type, 151210 (3) SED congenita, 183900 (3) SMED Strudwick type, 184250 (3) Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) Spondyloperipheral dysplasia, 271700 (3) Stickler sydrome, type I, nonsyndromic ocular, 609508 (3) Stickler syndrome, type I, 108300 (3) Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
CTSA	Galactosialidosis, 256540 (3)
DDHD2	Spastic paraplegia 54, autosomal recessive, 615033 (3)
DIAPH1	Deafness, autosomal dominant 1, 124900 (3) Seizures, cortical blindness, microcephaly syndrome, 616632 (3)
DNAH1	?Ciliary dyskinesia, primary, 37, 617577 (3) Spermatogenic failure 18, 617576 (3)
DOCK7	Epileptic encephalopathy, early infantile, 23, 615859 (3)
DSPP	Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3) Dentin dysplasia, type II, 125420 (3) Dentinogenesis imperfecta, Shields type II, 125490 (3) Dentinogenesis imperfecta, Shields type III, 125500 (3)
EIF2AK3	Wolcott-Rallison syndrome, 226980 (3)
ELMOD3	?Deafness, autosomal recessive 88, 615429 (3)
FBN2	Contractural arachnodactyly, congenital, 121050 (3) Macular degeneration, early-onset, 616118 (3)
FECH	Protoporphyria, erythropoietic, 1, 177000 (3)
FMN2	Mental retardation, autosomal recessive 47, 616193 (3)
FOXE1	Bamforth-Lazarus syndrome, 241850 (3) {Thyroid cancer, nonmedullary, 4}, 616534 (3)
GATA6	Atrial septal defect 9, 614475 (3) Atrioventricular septal defect 5, 614474 (3) Pancreatic agenesis and congenital heart defects, 600001 (3) Persistent truncus arteriosus, 217095 (3) Tetralogy of Fallot, 187500 (3)
GDF1	Congenital heart defects, multiple types, 6, 613854 (3) Right atrial isomerism (Ivemark), 208530 (3)
GP6	Bleeding disorder, platelet-type, 11, 614201 (3)
GYS2	Glycogen storage disease 0, liver, 240600 (3)
HEXA	GM2-gangliosidosis, several forms, 272800 (3) Tay-Sachs disease, 272800 (3) [Hex A pseudodeficiency], 272800 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3) {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) {Synovitis, chronic, susceptibility to} (3) {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) {Abacavir hypersensitivity, susceptibility to} (3) {Drug-induced liver injury due to flucloxacillin} (3)
HLA-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
HLA-DQB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Celiac disease, susceptibility to}, 212750 (3) {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HSPA9	Anemia, sideroblastic, 4, 182170 (3) Even-plus syndrome, 616854 (3)
HTT	Huntington disease, 143100 (3) Lopes-Maciel-Rodan syndrome, 617435 (3)
IGSF3	?Lacrimal duct defect, 149700 (3)
IRF2BPL	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
KCNMA1	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3) ?Cerebellar atrophy, developmental delay, and seizures, 617643 (3)
KIF1A	Mental retardation, autosomal dominant 9, 614255 (3) Neuropathy, hereditary sensory, type IIC, 614213 (3) Spastic paraplegia 30, autosomal recessive, 610357 (3)
KRT1	Ichthyosis histrix, Curth-Macklin type, 146590 (3) Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3) Epidermolytic hyperkeratosis, 113800 (3) Keratosis palmoplantaris striata III, 607654 (3) Palmoplantar keratoderma, epidermolytic, 144200 (3) Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
KRT18	Cirrhosis, cryptogenic, 215600 (3) {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
LARS	?Infantile liver failure syndrome 1, 615438 (3)
LFNG	Spondylocostal dysostosis 3, autosomal recessive, 609813 (3)
LOR	Vohwinkel syndrome with ichthyosis, 604117 (3)
LRP8	{Myocardial infarction, susceptibility to}, 608446 (3)
LTBP3	Geleophysic dysplasia 3, 617809 (3) Dental anomalies and short stature, 601216 (3)
MAFA	Insulinomatosis and diabetes mellitus, 147630 (3)
MAML2	Mucoepidermoid salivary gland carcinoma (3)
MAP3K1	46XY sex reversal 6, 613762 (3)
MCC	Colorectal cancer, somatic, 114500 (3)
MEGF8	Carpenter syndrome 2, 614976 (3)
MESP2	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MYF5	Ophthalmoplegia, external, with rib and vertebral anomalies, 618155 (3)
NIPA1	Spastic paraplegia 6, autosomal dominant, 600363 (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)
ORAI1	Immunodeficiency 9, 612782 (3) Myopathy, tubular aggregate, 2, 615883 (3)
PAK1	Intellectual developmental disorder with macrocephaly, seizures, and speech delay, 618158 (3)
PCDH12	Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)
PLCZ1	?Spermatogenic failure 17, 617214 (3)
PLEKHG5	Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3) Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)
PRKCSH	Polycystic liver disease 1, 174050 (3)
RAI1	Smith-Magenis syndrome, 182290 (3)
RBM12	{Schizophrenia 19, susceptibility to}, 617629 (3)
RBMX	?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RNF212	Recombination rate QTL 1, 612042 (3)
ROM1	Retinitis pigmentosa 7, digenic form, 608133 (3)
RP1L1	Occult macular dystrophy, 613587 (3)
SALL1	Townes-Brocks branchiootorenal-like syndrome, 107480 (3) Townes-Brocks syndrome 1, 107480 (3)
SCN5A	Atrial fibrillation, familial, 10, 614022 (3) Brugada syndrome 1, 601144 (3) Cardiomyopathy, dilated, 1E, 601154 (3) Heart block, nonprogressive, 113900 (3) Heart block, progressive, type IA, 113900 (3) Long QT syndrome-3, 603830 (3) {Sudden infant death syndrome, susceptibility to}, 272120 (3) Sick sinus syndrome 1, 608567 (3) Ventricular fibrillation, familial, 1, 603829 (3)
SEPT12	Spermatogenic failure 10, 614822 (3)
SHROOM4	Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SLC7A14	Retinitis pigmentosa 68, 615725 (3)
SMPD1	Niemann-Pick disease, type A, 257200 (3) Niemann-Pick disease, type B, 607616 (3)
TCOF1	Treacher Collins syndrome 1, 154500 (3)
TMIE	Deafness, autosomal recessive 6, 600971 (3)
TRAK1	Epileptic encephalopathy, early infantile, 68, 618201 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)
TULP1	Leber congenital amaurosis 15, 613843 (3) Retinitis pigmentosa 14, 600132 (3)
VANGL1	Caudal regression syndrome, 600145 (3) {Neural tube defects, susceptibility to}, 182940 (3)
ZFHX3	Prostate cancer, somatic, 176807 (3)
ZFHX4	?Ptosis, congenital, 178300 (2)
ZNF141	?Polydactyly, postaxial, type A6, 615226 (3)
ZSWIM6	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3) Acromelic frontonasal dysostosis, 603671 (3)

Genes at Clinical Genomics Database

ADAMTS2, ADRA2C, ALMS1, ANLN, APOB, ARID1B, ASCL1, ATXN1, ATXN2, ATXN3, ATXN7, BLM, C2CD3, CACNA1A, CBS, CCDC40, COCH, COL18A1, COL2A1, CTSA, DDHD2, DIAPH1, DNAH1, DOCK7, DSPP, EIF2AK3, ELMOD3, FBN2, FECH, FMN2, FOXE1, GATA6, GDF1, GP6, GYS2, HEXA, HLA-A, HLA-B, HSPA9, HTT, IGSF3, KCNMA1, KIF1A, KRT1, LARS, LFNG, LOR, LTBP3, MAP3K1, MEGF8, MESP2, NIPA1, ORAI1, PCNT, PDHA1, PLEKHG5, PRKCSH, RAI1, RBMX, ROM1, RP1L1, SALL1, SCN5A, SEPT12, SHROOM4, SLC7A14, SMPD1, TCOF1, TMIE, TRIOBP, TULP1, VANGL1, ZNF141, ZSWIM6,

ADAMTS2	Ehlers-Danlos syndrome, type VII
ADRA2C	Beta-blocker response, association with
ALMS1	Alstrom syndrome
ANLN	Focal segmental glomerulosclerosis 8
APOB	Hypobetalipoproteinemia, familial Hypercholesterolemia, familial
ARID1B	Mental retardation, autosomal dominant, 12 Coffin-Siris syndrome 1
ASCL1	Central hypoventilation syndrome, congenital (Haddad syndrome)
ATXN1	Spinocerebellar ataxia 1
ATXN2	Spinocerebellar ataxia 2
ATXN3	Spinocerebellar ataxia 3 (Machado-Joseph disease)
ATXN7	Spinocerebellar ataxia 7
BLM	Bloom syndrome
C2CD3	Orofaciodigital syndrome XIV
CACNA1A	Episodic ataxia, type 2 Migraine, familial hemiplegic 1
CBS	Homocystinuria due to cystathionine beta-synthase deficiency
CCDC40	Ciliary dyskinesia, primary, 15
COCH	Deafness, autosomal dominant 9
COL18A1	Knobloch syndrome 1
COL2A1	Stickler syndrome, type I Rhegmatogenous retinal detachment, autosomal dominant Czech dysplasia Otospondylomegaepiphyseal dysplasia Epiphyseal dysplasia, multiple, with myopia and deafness Avascular necrosis of femoral head, primary
CTSA	Galactosialidosis
DDHD2	Spastic paraplegia 54
DIAPH1	Deafness, autosomal dominant 1
DNAH1	Spermatogenic failure
DOCK7	Epilepitic encephalopathy, early infantile, 23
DSPP	Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 Dentinogenesis imperfecta, Shields type II Dentinogenesis imperfecta, Shields type III Dentin dysplasia, type II
EIF2AK3	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus Wolcott-Rallison syndrome
ELMOD3	Deafness, autosomal recessive 88
FBN2	Congenital contractural arachnodactyly (Beals syndrome)
FECH	Protoporphyria, erythropoietic
FMN2	Mental retardation, autosomal recessive, 47
FOXE1	Thyroid cancer, nonmedullary 4 Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome) Congenital hypothyroidism
GATA6	Heart defects, congenital, and other congenital anomalies
GDF1	Transposition of the great arteries, dextro-looped 3 Double-outlet right ventricle
GP6	Bleeding disorder, platelet-type, 11
GYS2	Glycogen storage disease, type 0, liver
HEXA	Tay-Sachs disease GM2-gangliosidosis Hexosaminidase A deficiency
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
HSPA9	Anemia, sideroblastic 4
HTT	Huntington disease
IGSF3	Lacrimal duct defect
KCNMA1	Generalized epilepsy and paroxysmal dyskinesia
KIF1A	Mental retardation, autosomal dominant 9 Neuropathy, hereditary sensory, type IIC Spastic paraplegia 30, autosomal recessive
KRT1	Keratosis palmoplantaris striata III Ichthyosis, cyclic, with epidermolytic hyperkeratosis Ichthyosis histrix, Curth-Macklin type Palmoplantar keratoderma, epidermolytic Palmoplantar keratoderma, nonepidermolytic Epidermolytic hyperkeratosis
LARS	Infantile liver failure syndrome 1
LFNG	Spondylocostal dysostosis, autosomal recessive 3
LOR	Vohwinkel syndrome, variant form
LTBP3	Dental anomalies and short stature
MAP3K1	46,XY sex reversal 6
MEGF8	Carpenter syndrome 2
MESP2	Spondylocostal dysostosis 2, autosomal recessive
NIPA1	Spastic paraplegia 6
ORAI1	Immunodeficiency 9
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency Leigh syndrome, X-linked
PLEKHG5	Charcot-Marie-Tooth disease C, recessive intermediate Spinal muscular atrophy, distal, autosomal recessive, 4
PRKCSH	Polycystic liver disease
RAI1	Smith-Magenis syndrome
RBMX	Mental retardation, X-linked, syndromic 11, Shashi type
ROM1	Retinitis pigmentosa 7, digenic
RP1L1	Occult macular dystrophy Retinitis pigmentosa, autosomal recessive
SALL1	Townes-Brocks syndrome
SCN5A	Atrial fibrillation, familial 10 Long QT syndrome 3 Idiopathic ventricular fibrillation Heart block, progressive, type IA Heart block, nonprogressive Sick sinus syndrome 1, autosomal recessive Cardiomyopathy, dilated, 1E Brugada syndrome 1 Ventricular fibrillation, familial 1
SEPT12	Spermatogenic failure 10
SHROOM4	Stocco dos Santos X-linked mental retardation syndrome
SLC7A14	Retinitis pigmentosa 68
SMPD1	Niemann-Pick disease, type A Niemann-Pick disease, type B
TCOF1	Treacher Collins syndrome 1
TMIE	Deafness, autosomal recessive 6
TRIOBP	Deafness, autosomal recessive 28
TULP1	Leber congenital amaurosis 15 Retinitis pigmentosa 14
VANGL1	Caudal regression syndrome Neural tube defects
ZNF141	Postaxial polydactyly type A, autosomal recessive
ZSWIM6	Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 10576
Number of Genes: 303

Export to: CSV

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AC008686.1
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	94533-0209701724_ms_onbait	19	.	13899041	344291.48	CT...	CT...	PASS	1/2	10	FRAME_SHIFT	HIGH	None							None None	None None None None	None
AC012123.1
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	94533-0209701724_ms_onbait	18	.	30352057	2306856.91	GC...	GC...	PASS	1/1	29	FRAME_SHIFT	HIGH	None							None None	None None None None	KLHL14\|0.473561671\|17.04%
AC074212.3
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	94533-0209701724_ms_onbait	19	.	46265047	824127.27	AT...	AT...	PASS	1/1	12	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	None
ADAD2
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	94533-0209701724_ms_onbait	16	.	84224967	974512.53	GG...	AG...	PASS	0/1	13	NON_SYNONYMOUS_CODING	MODERATE	None							None None	None None None None	ADAD2\|0.00601312\|84.58%
ADAMTS2
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	94533-0209701724_ms_onbait	5	.	178772259	69794.55	GG...	GGCA	PASS	0/1	4	CODON_DELETION	MODERATE	None							None None	None None None None	ADAMTS2\|0.325728261\|25.76%
ADAMTS8
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	94533-0209701724_ms_onbait	11	.	130298117	702213.81	GG...	GGCA	PASS	1/1	11	CODON_DELETION	MODERATE	None							None None	None None None None	ADAMTS8\|0.042125202\|65.07%
ADAMTSL1
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	94533-0209701724_ms_onbait	9	.	18826261	2391532.9	GTT	GT	PASS	1/1	66	None	None	None							None None	None None None None	ADAMTSL1\|0.674544897\|9.24%
ADRA2C
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	94533-0209701724_ms_onbait	4	.	3769295	117897.81	AG...	A	PASS	0/1	7	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.19968		0.28462				None None	None None None None	ADRA2C\|0.032603753\|68.35%
AIM2
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	94533-0209701724_ms_onbait	1	.	159035751	1787.51	A	C	PASS	0/1	128	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None							None None	None None None None	AIM2\|0.001128332\|94.79%
AL645922.1
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	94533-0209701724_ms_onbait	6	.	31974849	792033.74	CGAG	GGAG	PASS	0/1	126	SYNONYMOUS_CODING	LOW	None	0.00579						None None	None None None None	None