Mendel,MD | Dashboard

+ Filter Options

SELECT VARIANTS FROM		EXCLUDE VARIANTS FROM
INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
SELECT INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

OPEN RESULT IN A NEW WINDOW

RESET FILTER | Save Config | Save Analysis

Genes:
AATF, AATK, ABCA5, ABCA6, ABCA8, ABCA9, ABHD15, ABI3, ABR, ACACA, ACAP1, ACE, ACLY, ACOX1, ACSF2, ACTG1, ADAM11, ADPRM, AIPL1, AKAP1, ALDH3A1, ALOX12, ALOX15B, ALOXE3, AMZ2, ANKFN1, ANKFY1, AOC3, AP2B1, ARHGAP23, ARHGAP27, ARHGEF15, ARRB2, ARSG, ASB16, ASIC2, ASPA, ASPSCR1, ATAD5, ATP1B2, ATP2A3, AURKB, AXIN2, AZI1, B3GNTL1, B4GALNT2, B9D1, BAIAP2, BCAS3, BCL6B, BHLHA9, BIRC5, BRCA1, BRIP1, BZRAP1, C17orf102, C17orf47, C17orf49, C17orf53, C17orf58, C17orf59, C17orf70, C17orf72, C17orf74, C17orf77, C17orf78, C17orf80, C17orf82, C17orf96, C17orf97, C17orf99, C1QTNF1, CACNA1G, CALCOCO2, CAMKK1, CAMTA2, CANT1, CARD14, CASKIN2, CBX2, CCDC137, CCDC144A, CCDC144NL, CCDC40, CCDC57, CCL15, CCL2, CCL23, CCL8, CCR7, CCT6B, CD300E, CD300LB, CD300LD, CD300LF, CD300LG, CD79B, CDC6, CDR2L, CDRT1, CDRT15, CDRT4, CEP112, CHAD, CHRNB1, CLDN7, CLUH, CNP, CNTNAP1, CNTROB, COASY, COG1, COIL, COL1A1, COPRS, COX10, COX11, CSF3, CTB-96E2.2, CTC1, CTDNEP1, CTNS, CXCL16, CYB5D1, DCAF7, DCAKD, DDX52, DGKE, DHRS13, DHX33, DLX3, DNAH17, DNAH2, DNAH9, DNAI2, DOC2B, DPH1, DUS1L, DVL2, EFCAB13, EFCAB5, EFTUD2, EIF4A1, EIF5A, ELAC2, ELP5, EME1, ENDOV, ENGASE, ENO3, ENPP7, ENTHD2, EPN2, EPN3, EPX, ERBB2, ERN1, EVI2A, EVPL, EVPLL, EXOC7, FAM104A, FAM20A, FAM211A, FAM83G, FASN, FBF1, FBXO47, FBXW10, FDXR, FMNL1, FN3K, FN3KRP, FNDC8, FOXK2, FTSJ3, GAA, GALR2, GAS2L2, GAST, GFAP, GGA3, GGNBP2, GGT6, GIP, GIT1, GLP2R, GLTPD2, GOSR2, GPATCH8, GPR142, GPS2, GRB7, GRIN2C, GSDMA, HAP1, HDAC5, HELZ, HES7, HEXDC, HEXIM1, HID1, HIGD1B, HNF1B, HOXB1, HOXB13, HOXB5, HOXB7, HS3ST3B1, HSD17B1, HSF5, ICAM2, ICT1, IFI35, IGFBP4, INPP5K, INTS2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KANSL1, KAT7, KCNH6, KCNJ12, KDM6B, KIAA0100, KIAA0195, KIAA0753, KIF19, KIF2B, KLHL10, KLHL11, KPNA2, KRT10, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT20, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT32, KRT33A, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP3-1, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-8, KSR1, LASP1, LGALS3BP, LGALS9, LLGL1, LLGL2, LPO, LRRC37A, LRRC37A2, LRRC37B, LRRC48, LSMD1, MAP2K3, MAP2K6, MARCH10, MED13, MED24, MFSD6L, MGAT5B, MIEF2, MIF4GD, MINK1, MLLT6, MLX, MMP28, MNT, MPP2, MPP3, MPRIP, MRC2, MRPL38, MRPS23, MSI2, MTMR4, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYO15A, MYO18A, MYO19, MYO1C, NAGLU, NAGS, NAT9, NBR1, NEK8, NEURL4, NF1, NFE2L1, NLE1, NLGN2, NLRP1, NMT1, NOL11, NOS2, NPLOC4, NPTX1, NSRP1, NT5C, NT5C3B, NUP85, NUP88, ODF4, OGFOD3, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR3A2, OR3A3, OSBPL7, OTOP2, OTOP3, P4HB, PCGF2, PCTP, PDK2, PELP1, PEMT, PER1, PFAS, PGAP3, PGS1, PHF12, PIK3R5, PIK3R6, PIP4K2B, PITPNM3, PLCD3, PLD2, PLXDC1, PNPO, POLDIP2, POLG2, POLR2A, PPP1R9B, PRKCA, PSMB6, PSMC3IP, PSMC5, PSMD3, PTGES3L-AARSD1, PYCR1, PYY, QRICH2, RAB11FIP4, RABEP1, RAI1, RAP1GAP2, RARA, RECQL5, RHBDF2, RHOT1, RNF135, RNF157, RNF213, RNF222, RNF43, RNFT1, RP11-1055B8.7, RPA1, RPRML, RPTOR, RSAD1, RTN4RL1, RUNDC1, SARM1, SAT2, SCARF1, SCN4A, SCRN2, SDK2, SEC14L1, SECTM1, SENP3, SEPT4, SERPINF1, SERPINF2, SEZ6, SGSH, SGSM2, SHPK, SIRT7, SKAP1, SLC13A5, SLC16A13, SLC16A3, SLC16A5, SLC25A10, SLC25A19, SLC2A4, SLC35B1, SLC35G6, SLC38A10, SLC39A11, SLC43A2, SLC46A1, SLC47A2, SLC52A1, SLC5A10, SLC9A3R1, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SMCR8, SMG6, SMTNL2, SMYD4, SNF8, SOX9, SP2, SPATA20, SPATA22, SPATA32, SPECC1, SPHK1, SPNS2, SPNS3, SPOP, SPPL2C, SREBF1, SRP68, SRSF2, STARD3, STAT5A, STRADA, STX8, STXBP4, SUPT6H, SYNGR2, SYNRG, TADA2A, TANC2, TAOK1, TAX1BP3, TBC1D16, TBC1D26, TBC1D28, TBCD, TBX2, TBX21, TCAP, TEKT1, TEKT3, TEX14, TIMP2, TK1, TLCD1, TLCD2, TLK2, TM4SF5, TMC6, TMEM104, TMEM256-PLSCR3, TMEM92, TMEM99, TNFRSF13B, TNFSF12, TNFSF12-TNFSF13, TNK1, TNRC6C, TNS4, TOB1, TRIM16, TRIM25, TRIM37, TRIM47, TRIM65, TRPV1, TRPV2, TRPV3, TSEN54, TSPAN10, TSR1, TTC19, TTLL6, TUBD1, TUBG2, TUSC5, TVP23C, UBALD2, UBE2O, UBE2Z, UBTF, ULK2, UNC13D, UNC45B, UNK, USP22, USP36, USP43, USP6, UTP18, UTS2R, VAT1, VMO1, VTN, WDR16, WDR81, WFIKKN2, WNK4, WNT9B, WRAP53, WSB1, WSCD1, XAF1, XYLT2, ZACN, ZFP3, ZMYND15, ZNF286A, ZNF287, ZNF594, ZNF750, ZNF830, ZZEF1,

+ Genes associated with diseases 124

Genes at Omim

ABCA5, ACACA, ACE, ACOX1, ACTG1, AIPL1, ALOXE3, ARSG, ASPA, ASPSCR1, AXIN2, B9D1, BHLHA9, BRCA1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC40, CCL2, CD79B, CDC6, CHRNB1, CNTNAP1, COASY, COG1, COL1A1, COX10, CTC1, CTNS, DGKE, DLX3, DNAH9, DNAI2, DPH1, EFTUD2, ELAC2, ENO3, EPX, ERBB2, FAM20A, FDXR, GAA, GFAP, GOSR2, HES7, HNF1B, HOXB1, HOXB13, INPP5K, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KIAA0753, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT17, KRT25, KRT9, MYH2, MYH3, MYH8, MYO15A, NAGLU, NAGS, NEK8, NF1, NLRP1, NUP85, P4HB, PGAP3, PIK3R5, PITPNM3, PNPO, POLG2, PRKCA, PSMC3IP, PYCR1, QRICH2, RAI1, RARA, RHBDF2, RNF213, RNF43, SCN4A, SERPINF1, SGSH, SHPK, SLC13A5, SLC25A19, SLC46A1, SLC52A1, SLC9A3R1, SLFN14, SOX9, STRADA, TBCD, TBX2, TBX21, TCAP, TEX14, TLK2, TMC6, TNFRSF13B, TRIM37, TRPV3, TSEN54, TTC19, UBTF, UNC13D, UNC45B, WDR81, WNK4, WRAP53, XYLT2, ZMYND15, ZNF750,

ABCA5	?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400 (3)
ACACA	Acetyl-CoA carboxylase deficiency, 613933 (1)
ACE	{Microvascular complications of diabetes 3}, 612624 (3) {Myocardial infarction, susceptibility to} (3) {SARS, progression of} (3) {Stroke, hemorrhagic}, 614519 (3) Renal tubular dysgenesis, 267430 (3) [Angiotensin I-converting enzyme, benign serum increase] (3)
ACOX1	Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
ACTG1	Baraitser-Winter syndrome 2, 614583 (3) Deafness, autosomal dominant 20/26, 604717 (3)
AIPL1	Cone-rod dystrophy, 604393 (3) Leber congenital amaurosis 4, 604393 (3) Retinitis pigmentosa, juvenile, 604393 (3)
ALOXE3	Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ARSG	Usher syndrome, type IV, 618144 (3)
ASPA	Canavan disease, 271900 (3)
ASPSCR1	Alveolar soft-part sarcoma, 606243 (3)
AXIN2	Colorectal cancer, somatic, 114500 (3) Oligodontia-colorectal cancer syndrome, 608615 (3)
B9D1	Joubert syndrome 27, 617120 (3) ?Meckel syndrome 9, 614209 (3)
BHLHA9	?Camptosynpolydactyly, complex, 607539 (3) Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3)
BRCA1	Fanconi anemia, complementation group S, 617883 (3) {Pancreatic cancer, susceptibility to, 4}, 614320 (3) {Breast-ovarian cancer, familial, 1}, 604370 (3)
BRIP1	Fanconi anemia, complementation group J, 609054 (3) {Breast cancer, early-onset, susceptibility to}, 114480 (3)
CACNA1G	Spinocerebellar ataxia 42, 616795 (3) Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3)
CANT1	Desbuquois dysplasia 1, 251450 (3) Epiphyseal dysplasia, multiple, 7, 617719 (3)
CARD14	Pityriasis rubra pilaris, 173200 (3) Psoriasis 2, 602723 (3)
CBX2	?46XY sex reversal 5, 613080 (3)
CCDC40	Ciliary dyskinesia, primary, 15, 613808 (3)
CCL2	{HIV-1, resistance to}, 609423 (3) {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) {Spina bifida, susceptibility to}, 182940 (3) {Coronary artery disease, modifier of} (3)
CD79B	Agammaglobulinemia 6, 612692 (3)
CDC6	?Meier-Gorlin syndrome 5, 613805 (3)
CHRNB1	Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3) ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3)
CNTNAP1	Hypomyelinating neuropathy, congenital, 3, 618186 (3) Lethal congenital contracture syndrome 7, 616286 (3)
COASY	Neurodegeneration with brain iron accumulation 6, 615643 (3) Pontocerebellar hypoplasia, type 12, 618266 (3)
COG1	Congenital disorder of glycosylation, type IIg, 611209 (3)
COL1A1	Caffey disease, 114000 (3) Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3) Osteogenesis imperfecta, type I, 166200 (3) Osteogenesis imperfecta, type II, 166210 (3) Osteogenesis imperfecta, type III, 259420 (3) Osteogenesis imperfecta, type IV, 166220 (3) {Bone mineral density variation QTL, osteoporosis}, 166710 (3)
COX10	Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3) Mitochondrial complex IV deficiency, 220110 (3)
CTC1	Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
CTNS	Cystinosis, atypical nephropathic, 219800 (3) Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3) Cystinosis, nephropathic, 219800 (3) Cystinosis, ocular nonnephropathic, 219750 (3)
DGKE	{Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3) Nephrotic syndrome, type 7, 615008 (3)
DLX3	Amelogenesis imperfecta, type IV, 104510 (3) Trichodontoosseous syndrome, 190320 (3)
DNAH9	Ciliary dyskinesia, primary, 40, 618300 (3)
DNAI2	Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
DPH1	Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3)
EFTUD2	Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3)
ELAC2	Combined oxidative phosphorylation deficiency 17, 615440 (3) {Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3)
ENO3	?Glycogen storage disease XIII, 612932 (3)
EPX	[Eosinophil peroxidase deficiency], 261500 (3)
ERBB2	Adenocarcinoma of lung, somatic, 211980 (3) Gastric cancer, somatic, 613659 (3) Glioblastoma, somatic, 137800 (3) Ovarian cancer, somatic, (3)
FAM20A	Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3)
FDXR	Auditory neuropathy and optic atrophy, 617717 (3)
GAA	Glycogen storage disease II, 232300 (3)
GFAP	Alexander disease, 203450 (3)
GOSR2	Epilepsy, progressive myoclonic 6, 614018 (3)
HES7	Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
HNF1B	Diabetes mellitus, noninsulin-dependent, 125853 (3) {Renal cell carcinoma}, 144700 (3) Renal cysts and diabetes syndrome, 137920 (3)
HOXB1	Facial paresis, hereditary congenital, 3, 614744 (3)
HOXB13	{Prostate cancer, hereditary, 9}, 610997 (3)
INPP5K	Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3)
ITGA2B	Glanzmann thrombasthenia, 273800 (3) Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3) Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
ITGA3	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3)
ITGB3	Glanzmann thrombasthenia, 273800 (3) Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3) {Myocardial infarction, susceptibility to}, 608446 (3) Purpura, posttransfusion (3) Thrombocytopenia, neonatal alloimmune (3)
ITGB4	Epidermolysis bullosa of hands and feet, 131800 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
JUP	Arrhythmogenic right ventricular dysplasia 12, 611528 (3) Naxos disease, 601214 (3)
KANSL1	Koolen-De Vries syndrome, 610443 (3)
KIAA0753	?Orofaciodigital syndrome XV, 617127 (3)
KLHL10	Spermatogenic failure 11, 615081 (3)
KRT10	Ichthyosis with confetti, 609165 (3) Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3) Epidermolytic hyperkeratosis, 113800 (3)
KRT13	White sponge nevus 2, 615785 (3)
KRT14	Dermatopathia pigmentosa reticularis, 125595 (3) Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3) Epidermolysis bullosa simplex, Koebner type, 131900 (3) Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3) Epidermolysis bullosa simplex, recessive 1, 601001 (3) Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)
KRT16	Pachyonychia congenita 1, 167200 (3) Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT17	Pachyonychia congenita 2, 167210 (3) Steatocystoma multiplex, 184500 (3)
KRT25	Woolly hair, autosomal recessive 3, 616760 (3)
KRT9	Palmoplantar keratoderma, epidermolytic, 144200 (3)
MYH2	Proximal myopathy and ophthalmoplegia, 605637 (3)
MYH3	Arthrogryposis, distal, type 2A, 193700 (3) Arthrogryposis, distal, type 2B, 601680 (3) Arthrogryposis, distal, type 8, 178110 (3)
MYH8	Carney complex variant, 608837 (3) Trismus-pseudocamptodactyly syndrome, 158300 (3)
MYO15A	Deafness, autosomal recessive 3, 600316 (3)
NAGLU	Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3) ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3)
NAGS	N-acetylglutamate synthase deficiency, 237310 (3)
NEK8	Renal-hepatic-pancreatic dysplasia 2, 615415 (3) ?Nephronophthisis 9, 613824 (3)
NF1	Leukemia, juvenile myelomonocytic, 607785 (3) Neurofibromatosis, familial spinal, 162210 (3) Neurofibromatosis, type 1, 162200 (3) Neurofibromatosis-Noonan syndrome, 601321 (3) Watson syndrome, 193520 (3)
NLRP1	Autoinflammation with arthritis and dyskeratosis, 617388 (3) {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3) Palmoplantar carcinoma, multiple self-healing, 615225 (3)
NUP85	Nephrotic syndrome, type 17, 618176 (3)
P4HB	Cole-Carpenter syndrome 1, 112240 (3)
PGAP3	Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
PIK3R5	Ataxia-oculomotor apraxia 3, 615217 (3)
PITPNM3	Cone-rod dystrophy 5, 600977 (3)
PNPO	Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
POLG2	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)
PRKCA	Pituitary tumor, invasive (3)
PSMC3IP	Ovarian dysgenesis 3, 614324 (3)
PYCR1	Cutis laxa, autosomal recessive, type IIB, 612940 (3) Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
QRICH2	Spermatogenic failure 35, 618341 (3)
RAI1	Smith-Magenis syndrome, 182290 (3)
RARA	Leukemia, acute promyelocytic, 612376 (1)
RHBDF2	Tylosis with esophageal cancer, 148500 (3)
RNF213	{Moyamoya disease 2, susceptibility to}, 607151 (3)
RNF43	Sessile serrated polyposis cancer syndrome, 617108 (3)
SCN4A	Hyperkalemic periodic paralysis, type 2, 170500 (3) Hypokalemic periodic paralysis, type 2, 613345 (3) Myasthenic syndrome, congenital, 16, 614198 (3) Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3) Paramyotonia congenita, 168300 (3)
SERPINF1	Osteogenesis imperfecta, type VI, 613982 (3)
SGSH	Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3)
SHPK	[Sedoheptulokinase deficiency], 617213 (3)
SLC13A5	Epileptic encephalopathy, early infantile, 25, 615905 (3)
SLC25A19	Microcephaly, Amish type, 607196 (3) Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
SLC46A1	Folate malabsorption, hereditary, 229050 (3)
SLC52A1	Riboflavin deficiency, 615026 (3)
SLC9A3R1	Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3)
SLFN14	Bleeding disorder, platelet-type, 20, 616913 (3)
SOX9	Campomelic dysplasia with autosomal sex reversal, 114290 (3) Campomelic dysplasia, 114290 (3) Acampomelic campomelic dysplasia, 114290 (3)
STRADA	Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3)
TBCD	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3)
TBX2	Vertebral anomalies and variable endocrine and T-cell dysfunction, 618223 (3)
TBX21	Asthma and nasal polyps, 208550 (3) {Asthma, aspirin-induced, susceptibility to}, 208550 (3)
TCAP	Cardiomyopathy, hypertrophic, 25, 607487 (3) Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3)
TEX14	?Spermatogenic failure 23, 617707 (3)
TLK2	Mental retardation, autosomal dominant 57, 618050 (3)
TMC6	Epidermodysplasia verruciformis, 226400 (3)
TNFRSF13B	Immunodeficiency, common variable, 2, 240500 (3) Immunoglobulin A deficiency 2, 609529 (3)
TRIM37	Mulibrey nanism, 253250 (3)
TRPV3	Olmsted syndrome, 614594 (3) ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
TSEN54	Pontocerebellar hypoplasia type 2A, 277470 (3) Pontocerebellar hypoplasia type 4, 225753 (3) ?Pontocerebellar hypoplasia type 5, 610204 (3)
TTC19	Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
UBTF	Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3)
UNC13D	Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
UNC45B	?Cataract 43, 616279 (3)
WDR81	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)
WNK4	Pseudohypoaldosteronism, type IIB, 614491 (3)
WRAP53	Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
XYLT2	{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3) Spondyloocular syndrome, 605822 (3)
ZMYND15	?Spermatogenic failure 14, 615842 (3)
ZNF750	Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)

Genes at Clinical Genomics Database

ABCA5, ACE, ACOX1, ACTG1, AIPL1, ALOXE3, ASPA, AXIN2, B9D1, BHLHA9, BRCA1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC137, CCDC40, CD79B, CDC6, CHRNB1, CNTNAP1, COASY, COG1, COL1A1, COX10, CTC1, CTNS, DGKE, DLX3, DNAI2, DPH1, EFTUD2, ELAC2, ENO3, EPX, FAM20A, GAA, GFAP, GOSR2, HES7, HNF1B, HOXB1, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT17, KRT25, KRT9, MYH2, MYH3, MYH8, MYO15A, NAGLU, NAGS, NEK8, NF1, NLRP1, P4HB, PGAP3, PIK3R5, PITPNM3, PNPO, POLG2, PSMC3IP, PYCR1, RAI1, RHBDF2, RNF135, RNF213, SCN4A, SERPINF1, SERPINF2, SGSH, SLC13A5, SLC25A19, SLC46A1, SLC52A1, SLC9A3R1, SLFN14, SOX9, STRADA, TCAP, TMC6, TNFRSF13B, TRIM37, TRPV3, TSEN54, TTC19, UNC13D, UNC45B, WDR81, WNK4, WRAP53, ZMYND15, ZNF750,

ABCA5	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
ACE	Renal tubular dysgenesis ACE serum levels
ACOX1	Peroxisomal acyl-CoA oxidase deficiency
ACTG1	Deafness, autosomal dominant 20 Baraitser-Winter syndrome 2
AIPL1	Leber congenital amaurosis 4 Retinitis pigmentosa, juvenile, AIPL1-related Cone-rod dystrophy, AIPL1-related
ALOXE3	Ichthyosiform erythroderma, congenital, nonbullous, 1
ASPA	Aspartoacylase deficiency (Canavan disease)
AXIN2	Oligodontia-colorectal cancer syndrome
B9D1	Meckel syndrome 9
BHLHA9	Syndactyly, mesoaxial synostotic, with phalangeal reduction
BRCA1	Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4
BRIP1	Breast cancer Fanconi anemia, complementation group J
CACNA1G	Spinocerebellar ataxia 42
CANT1	Desbuquois dysplasia 1
CARD14	Psoriasis 2
CBX2	46,XY sex reversal 5
CCDC137	Schizophrenia
CCDC40	Ciliary dyskinesia, primary, 15
CD79B	Agammaglobulinemia 6
CDC6	Meier-Gorlin syndrome 5
CHRNB1	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Myasthenic syndrome, slow-channel congenital, 2A
CNTNAP1	Lethal congenital contracture syndrome 7
COASY	Neurodegeneration with brain iron accumulation 6
COG1	Congenital disorder of glycosylation, type IIg
COL1A1	Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type VII, autosomal dominant
COX10	Mitochondrial complex IV deficiency Leigh syndrome
CTC1	Cerebroretinal microangiopathy with calcifications and cysts
CTNS	Cystinosis
DGKE	Nephrotic syndrome, type 7
DLX3	Trichodontoosseous syndrome Amelogenesis imperfecta, type IV
DNAI2	Ciliary dyskinesia, primary, 9
DPH1	Developmental delay with short stature, dysmorphic features, and sparse hair
EFTUD2	Mandibulofacial dysostosis, Guion-Almeida type Esophageal atresia, syndromic
ELAC2	Combined oxidative phosphorylation deficiency 17
ENO3	Glycogen storage disease XIII
EPX	Eosinophil peroxidase deficiency
FAM20A	Amelogenesis imperfecta, type IG (Enamel-renal syndrome)
GAA	Glycogen storage disease II
GFAP	Alexander disease
GOSR2	Epilepsy, progessive myoclonic 6
HES7	Spondylocostal dysostosis 4, autosomal recessive
HNF1B	Renal cell carcinoma, nonpapillary chromophobe
HOXB1	Facial paresis, hereditary congenital, 3
ITGA2B	Glanzmann thrombasthenia
ITGA3	Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
ITGB3	Bleeding disorder, platelet-type, 16, autosomal dominant Glanzmann thrombasthenia Thrombocytopenia, neonatal alloimmune
ITGB4	Epidermolysis bullosa, junctional, with pyloric atresia Epidermolysis bullosa, junctional, non-Herlitz type Epidermolysis bullosa simplex, Weber-Cockayne type
JUP	Arrhythmogenic right ventricular dysplasia, familial, 12 Naxos disease
KANSL1	Koolen-de Vries syndrom
KLHL10	Spermatogenic failure 11
KRT10	Erythroderma, ichthyosiform, congenital reticular Aaru disease Ichthyosis, cyclic, with epidermolytic hyperkeratosis Epidermolytic hyperkeratosis Ichthyosis with confetti
KRT13	White sponge nevus 2
KRT14	Epidermolysis bullosa simplex, autosomal recessive Naegeli-Franceschetti-Jadassohn syndrome Dermatopathia pigmentosa reticularis Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolysis bullosa simplex, Dowling-Meara type
KRT16	Palmoplantar keratoderma, nonepidermolytic, focal Pachyonychia congenita 1
KRT17	Steatocystoma multiplex Pachyonychia congenita 2
KRT25	Woolly hair, autosomal recessive 3
KRT9	Palmoplantar keratoderma, epidermolytic Knuckle pads
MYH2	Inclusion body myopathy 3
MYH3	Arthrogryposis, distal, type 2A Arthyrgryposis, distal, type 2B Arthrogryposis, distal, type 8
MYH8	Carney complex variant Arthrogryposis, distal, type 7 Trismus-pseudocamptodactyly syndrome
MYO15A	Deafness, autosomal recessive 3
NAGLU	Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B)
NAGS	N-acetylglutamate synthase deficiency
NEK8	Nephronophthisis 9
NF1	Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome Watson syndrome
NLRP1	Corneal intraepithelial dyskeratosis and ectodermal dysplasia
P4HB	Cole Carpenter syndrome 1
PGAP3	Hyperphosphatasia with mental retardation syndrome 4
PIK3R5	Ataxia-oculomotor apraxia 3
PITPNM3	Cone-rod dystrophy 5
PNPO	Individuals may manifest with severe seizures starting in the immediate neonatal period (or even before birth), and medical treatment (with pyridoxine) can be effective as an antiepileptic agent
POLG2	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
PSMC3IP	Ovarian dysgenesis 3
PYCR1	Cutis laxa, autosomal recessive, type IIB Cutis laxa, autosomal recessive type IIIB
RAI1	Smith-Magenis syndrome
RHBDF2	Tylosis with esophageal cancer
RNF135	Macrocephaly, macrosomia, facial dysmorphism syndrome
RNF213	Moyamoya disease 2
SCN4A	Paramyotonia congenita Hyperkalemic periodic paralysis, type 2 Hypokalemic periodic paralysis, type 2 Normokalemic potassium-sensitive periodic paralysis Malignant hyperthermia, susceptibility to Myasthenic syndrome, congenital, 16 Myotonia, potassium-aggravated
SERPINF1	Osteogenesis imperfecta, type VI
SERPINF2	Alpha-2-plasmin inhibitor deficiency
SGSH	Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A)
SLC13A5	Epileptic encephalopathy, early infantile 25
SLC25A19	Thiamine metabolism dysfunction syndrome 4 Microcephaly, Amish type
SLC46A1	Folate malabsorption, hereditary
SLC52A1	Maternal riboflavin deficiency
SLC9A3R1	Nephrolithiasis/osteoporosis, hypophosphatemic, 2
SLFN14	Bleeding disorder, platelet-type, 20
SOX9	46, XY sex reversal 10 Campomelic dysplasia
STRADA	Polyhydramnios, megalencephaly, and symptomatic epilepsy
TCAP	Cardiomyopathy, dilated, 1N Cardiomyopathy, familial hypertrophic 25 Muscular dystrophy, limb-girdle, type 2G
TMC6	Epidermodysplasia verruciformis
TNFRSF13B	Immunoglobulin A deficiency 2 Common variable immunodeficiency 2
TRIM37	Mulibrey nanism
TRPV3	Olmsted syndrome Palmoplantar keratoderma, nonepidermolytic focal 2
TSEN54	Pontocerebellar hypoplasia, type 2A Pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 5
TTC19	Mitochondrial complex III deficiency, nuclear type 2
UNC13D	Hemophagocytic lymphohistiocytosis, familial 3
UNC45B	Cataract 43
WDR81	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WNK4	Pseudohypoaldosteronism, type IIB
WRAP53	Dyskeratosis congenita, autosomal recessive 3
ZMYND15	Spermatogenic failure 14
ZNF750	Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 2417
Number of Genes: 563

Export to: CSV

previous
Page 2 of 25
next

previous
Page 2 of 25
next

B3GNTL1
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	sp16_961	17	rs16940609 dbSNP Clinvar	80992932	123.361	A	C	PASS	0/1	70	SYNONYMOUS_CODING	LOW	None	0.17452	0.17450	0.21321				None None	None None None None	B3GNTL1\|0.011137192\|79.94%
B4GALNT2
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	sp16_961	17	rs139177834 dbSNP Clinvar	47241577	108.1	C	T	PASS	0/1	28	SYNONYMOUS_CODING	LOW	None	0.00220	0.00220	0.00069				None None	None None None None	B4GALNT2\|0.038585126\|66.26%
	View	sp16_961	17	rs7207403 dbSNP Clinvar	47210506	23.4254	C	A	PASS	0/1	29	NON_SYNONYMOUS_CODING	MODERATE	None	0.43111	0.43110	0.44411	0.93	0.00		None None	None None None None	B4GALNT2\|0.038585126\|66.26%
	View	sp16_961	17	rs7207842 dbSNP Clinvar	47210429	306.113	A	G	PASS	1/1	33	SYNONYMOUS_CODING	LOW	None	0.74221	0.74220	0.19479				None None	None None None None	B4GALNT2\|0.038585126\|66.26%
	View	sp16_961	17	rs7224888 dbSNP Clinvar	47246163	222.248	T	C	PASS	0/1	84	NON_SYNONYMOUS_CODING	MODERATE	None	0.13199	0.13200	0.13032	0.00	1.00		None None	None None None None	B4GALNT2\|0.038585126\|66.26%
	View	sp16_961	17	rs8074457 dbSNP Clinvar	47241604	254.962	T	C	PASS	1/1	27	SYNONYMOUS_CODING	LOW	None	0.99621	0.99620	0.00554				None None	None None None None	B4GALNT2\|0.038585126\|66.26%
	View	sp16_961	17	rs117575112 dbSNP Clinvar	47210469	132.331	G	A	PASS	0/1	31	NON_SYNONYMOUS_CODING	MODERATE	None	0.05591	0.05591	0.04676	0.02	0.31		None None	None None None None	B4GALNT2\|0.038585126\|66.26%
	View	sp16_961	17	rs16946912 dbSNP Clinvar	47246979	280.713	A	G	PASS	0/1	102	SYNONYMOUS_CODING	LOW	None	0.12201	0.12200	0.11541				None None	None None None None	B4GALNT2\|0.038585126\|66.26%
B9D1
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	sp16_961	17	.	19246736	142.057	AGAG	A	PASS	0/1	76	None	None	None							None None	None None None None	B9D1\|0.081015319\|54.99%
	View	sp16_961	17	rs4924987 dbSNP Clinvar	19247075	404.003	G	A	PASS	1/1	49	NON_SYNONYMOUS_CODING	MODERATE	None	0.31050	0.31050	0.40043	0.09	0.00		None None	None None None None	B9D1\|0.081015319\|54.99%
BAIAP2
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	sp16_961	17	rs4969391 dbSNP Clinvar	79089590	260.04	A	G	PASS	0/1	82	None	None	None	0.17232	0.17230	0.14193	0.68	0.22		None None	None None None None	BAIAP2\|0.184038679\|38.48%
BCAS3
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	sp16_961	17	rs2643103 dbSNP Clinvar	58786625	481.192	A	G	PASS	1/1	51	NON_SYNONYMOUS_CODING	MODERATE	None	0.74880	0.74880	0.19415	0.98	0.00		None None	None None None None	BCAS3\|0.982431939\|1.39%
	View	sp16_961	17	rs7501675 dbSNP Clinvar	58824567	1420.0	T	C	PASS	1/1	150	SYNONYMOUS_CODING	LOW	None	0.99341	0.99340	0.00581				None None	None None None None	BCAS3\|0.982431939\|1.39%
BCL6B
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	sp16_961	17	rs379478 dbSNP Clinvar	6929924	363.295	T	C	PASS	1/1	38	SYNONYMOUS_CODING	LOW	None	0.95986	0.95990	0.03753				None None	None None None None	BCL6B\|0.213572706\|35.16%
BHLHA9
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	sp16_961	17	rs3951819 dbSNP Clinvar	1174094	16.2594	A	G	PASS	0/1	14	SYNONYMOUS_CODING	LOW	None	0.37460	0.37460					None None	None None None None	BHLHA9\|0.016401539\|76.21%
BIRC5
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	sp16_961	17	rs2071214 dbSNP Clinvar	76219591	624.515	G	A	PASS	1/1	71	NON_SYNONYMOUS_CODING	MODERATE	None	0.92911	0.92910	0.03414	1.00	0.00		None None	None None None None	BIRC5\|0.935922721\|2.64%