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+ Genes 205

Genes:
ABCA10, ABCA5, ABCC3, AC087645.1, ACACA, ACE, ACLY, ACOX1, ACTG1, AIPL1, AKAP1, AKAP10, ALOX12, ALOX15, ALOXE3, ASPSCR1, AURKB, AXIN2, B4GALNT2, B9D1, BIRC5, BLMH, BRCA1, BRIP1, C17orf70, CACNA1G, CACNG4, CAMKK1, CAMTA2, CARD14, CBX2, CCDC40, CCL11, CCL2, CD79B, CDK5RAP3, CHD3, CHRNB1, CLEC10A, COG1, COL1A1, COX10, CRHR1, CRK, CRYBA1, CSH1, CTC1, CTNS, CXCL16, DCXR, DGKE, DNAH9, DNAI2, DPH1, DVL2, EFCAB5, ELAC2, EME1, ENDOV, ENO3, ERBB2, FAM20A, FASN, FN3K, FSCN2, GAA, GAS2L2, GEMIN4, GIT1, GP1BA, GPATCH8, GPR179, GSDMA, GSDMB, GUCY2D, HAP1, HES7, HID1, HOXB1, HOXB13, HOXB6, IKZF3, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KANSL1, KAT2A, KCNJ12, KDM6B, KIAA0100, KIF1C, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT17, KRT31, KRT37, KRT38, KRT9, KRTAP1-1, KRTAP9-3, LLGL1, MAP2K3, MAPT, MED13, MGAT5B, MPP3, MRPL12, MYBBP1A, MYH13, MYH2, MYH3, MYH4, MYH8, MYO15A, MYO1C, MYOCD, NAGLU, NF1, NLGN2, NLRP1, NOS2, P2RX5, PCGF2, PEMT, PER1, PGAP3, PIK3R5, PITPNM3, PLD2, PLEKHM1, PMP22, PNPO, POLR2A, PRKAR1A, PRKCA, PYCR1, PYY, RAD51D, RAI1, RECQL5, RHBDF2, RNF213, RPA1, RPH3AL, RPTOR, RTN4RL1, SCN4A, SEPT9, SERPINF1, SERPINF2, SEZ6, SGCA, SHMT1, SLC16A3, SLC25A19, SLC25A39, SLC2A4, SLC46A1, SLC4A1, SLC52A1, SLFN5, SOCS3, SOST, SOX9, SPATA32, SRSF2, ST6GALNAC2, STH, TADA2A, TANC2, TBX2, TBX21, TCAP, TEX14, TMC6, TMC8, TMEM256-PLSCR3, TMEM92, TMEM99, TNFRSF13B, TNFSF12, TOP3A, TP53, TRPV1, TRPV3, TSEN54, ULK2, UNC13D, UNC45B, UTP6, VPS53, VTN, WDR81, WNT9B, WRAP53, XYLT2, YBX2, ZNF750, ZPBP2,

+ Genes associated with diseases 110

Genes at Omim

ABCA5, ACACA, ACE, ACOX1, ACTG1, AIPL1, AKAP10, ALOXE3, ASPSCR1, AXIN2, B9D1, BRCA1, BRIP1, CACNA1G, CARD14, CBX2, CCDC40, CCL11, CCL2, CD79B, CHD3, CHRNB1, COG1, COL1A1, COX10, CRYBA1, CSH1, CTC1, CTNS, DCXR, DGKE, DNAH9, DNAI2, DPH1, ELAC2, ENO3, ERBB2, FAM20A, FSCN2, GAA, GEMIN4, GP1BA, GPR179, GUCY2D, HES7, HOXB1, HOXB13, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KIF1C, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT17, KRT9, MAPT, MYH2, MYH3, MYH8, MYO15A, NAGLU, NF1, NLRP1, PGAP3, PIK3R5, PITPNM3, PLEKHM1, PMP22, PNPO, PRKAR1A, PRKCA, PYCR1, RAD51D, RAI1, RHBDF2, RNF213, SCN4A, SEPT9, SERPINF1, SGCA, SLC25A19, SLC46A1, SLC4A1, SLC52A1, SOST, SOX9, TBX2, TBX21, TCAP, TEX14, TMC6, TMC8, TNFRSF13B, TOP3A, TP53, TRPV3, TSEN54, UNC13D, UNC45B, VPS53, WDR81, WRAP53, XYLT2, 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)
AKAP10 {Cardiac conduction defect, susceptibility to}, 115080 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (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)
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)
CARD14 Pityriasis rubra pilaris, 173200 (3)
Psoriasis 2, 602723 (3)
CBX2 ?46XY sex reversal 5, 613080 (3)
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
CCL11 {HIV1, resistance to}, 609423 (3)
{Asthma, susceptibility to}, 600807 (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)
CHD3 Snijders Blok-Campeau syndrome, 618205 (3)
CHRNB1 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3)
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (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)
CRYBA1 Cataract 10, multiple types, 600881 (3)
CSH1 [Placental lactogen deficiency] (1)
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)
DCXR [Pentosuria], 260800 (3)
DGKE {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)
Nephrotic syndrome, type 7, 615008 (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)
ELAC2 Combined oxidative phosphorylation deficiency 17, 615440 (3)
{Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3)
ENO3 ?Glycogen storage disease XIII, 612932 (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)
FSCN2 Retinitis pigmentosa 30, 607921 (3)
GAA Glycogen storage disease II, 232300 (3)
GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
GP1BA Bernard-Soulier syndrome, type A1 (recessive), 231200 (3)
Bernard-Soulier syndrome, type A2 (dominant), 153670 (3)
{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3)
von Willebrand disease, platelet-type, 177820 (3)
GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
GUCY2D Cone-rod dystrophy 6, 601777 (3)
Leber congenital amaurosis 1, 204000 (3)
?Choroidal dystrophy, central areolar 1, 215500 (3)
HES7 Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
HOXB13 {Prostate cancer, hereditary, 9}, 610997 (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)
KIF1C Spastic ataxia 2, autosomal recessive, 611302 (3)
KLHL10 Spermatogenic failure 11, 615081 (3)
KRT10 Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
KRT12 Meesmann corneal dystrophy, 122100 (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)
KRT17 Pachyonychia congenita 2, 167210 (3)
Steatocystoma multiplex, 184500 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (3)
MAPT Dementia, frontotemporal, with or without parkinsonism, 600274 (3)
{Parkinson disease, susceptibility to}, 168600 (3)
Pick disease, 172700 (3)
Supranuclear palsy, progressive atypical, 260540 (3)
Supranuclear palsy, progressive, 601104 (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)
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)
PGAP3 Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
PIK3R5 Ataxia-oculomotor apraxia 3, 615217 (3)
PITPNM3 Cone-rod dystrophy 5, 600977 (3)
PLEKHM1 Osteopetrosis, autosomal dominant 3, 618107 (3)
?Osteopetrosis, autosomal recessive 6, 611497 (3)
PMP22 Charcot-Marie-Tooth disease, type 1A, 118220 (3)
Charcot-Marie-Tooth disease, type 1E, 118300 (3)
Dejerine-Sottas disease, 145900 (3)
Neuropathy, recurrent, with pressure palsies, 162500 (3)
?Neuropathy, inflammatory demyelinating, 139393 (3)
Roussy-Levy syndrome, 180800 (3)
PNPO Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
PRKAR1A Adrenocortical tumor, somatic, (3)
Carney complex, type 1, 160980 (3)
Acrodysostosis 1, with or without hormone resistance, 101800 (3)
Myxoma, intracardiac, 255960 (3)
Pigmented nodular adrenocortical disease, primary, 1, 610489 (3)
PRKCA Pituitary tumor, invasive (3)
PYCR1 Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
RAD51D {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3)
RAI1 Smith-Magenis syndrome, 182290 (3)
RHBDF2 Tylosis with esophageal cancer, 148500 (3)
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (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)
SEPT9 Amyotrophy, hereditary neuralgic, 162100 (3)
Leukemia, acute myeloid, therapy-related (1)
Ovarian carcinoma (1)
SERPINF1 Osteogenesis imperfecta, type VI, 613982 (3)
SGCA Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 (3)
SLC25A19 Microcephaly, Amish type, 607196 (3)
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SLC4A1 Cryohydrocytosis, 185020 (3)
Ovalocytosis, SA type, 166900 (3)
Renal tubular acidosis, distal, AD, 179800 (3)
Renal tubular acidosis, distal, AR, 611590 (3)
Spherocytosis, type 4, 612653 (3)
[Blood group, Diego], 110500 (3)
[Blood group, Froese], 601551 (3)
[Blood group, Swann], 601550 (3)
[Blood group, Waldner], 112010 (3)
[Blood group, Wright], 112050 (3)
[Malaria, resistance to], 611162 (3)
SLC52A1 Riboflavin deficiency, 615026 (3)
SOST Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3)
Sclerosteosis 1, 269500 (3)
Van Buchem disease, 239100 (3)
SOX9 Campomelic dysplasia with autosomal sex reversal, 114290 (3)
Campomelic dysplasia, 114290 (3)
Acampomelic campomelic dysplasia, 114290 (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)
TMC6 Epidermodysplasia verruciformis, 226400 (3)
TMC8 Epidermodysplasia verruciformis 2, 618231 (3)
TNFRSF13B Immunodeficiency, common variable, 2, 240500 (3)
Immunoglobulin A deficiency 2, 609529 (3)
TOP3A Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3)
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3)
TP53 {Glioma susceptibility 1}, 137800 (3)
Bone marrow failure syndrome 5, 618165 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
{Osteosarcoma}, 259500 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Pancreatic cancer, somatic 260350 (3)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Choroid plexus papilloma}, 260500 (3)
{Colorectal cancer}, 114500 (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)
UNC13D Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
UNC45B ?Cataract 43, 616279 (3)
VPS53 Pontocerebellar hypoplasia, type 2E, 615851 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)
WRAP53 Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
XYLT2 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
Spondyloocular syndrome, 605822 (3)
ZNF750 Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)

Genes at Clinical Genomics Database

ABCA5, ACE, ACOX1, ACTG1, AIPL1, ALOXE3, AXIN2, B9D1, BRCA1, BRIP1, CACNA1G, CARD14, CBX2, CCDC40, CD79B, CHRNB1, COG1, COL1A1, COX10, CRYBA1, CTC1, CTNS, DCXR, DGKE, DNAI2, DPH1, ELAC2, ENO3, FAM20A, FSCN2, GAA, GP1BA, GPR179, GUCY2D, HES7, HOXB1, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KIF1C, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT17, KRT9, MAPT, MYH2, MYH3, MYH8, MYO15A, NAGLU, NF1, NLRP1, PGAP3, PIK3R5, PITPNM3, PLEKHM1, PMP22, PNPO, PRKAR1A, PYCR1, RAD51D, RAI1, RHBDF2, RNF213, SCN4A, SEPT9, SERPINF1, SERPINF2, SGCA, SLC25A19, SLC46A1, SLC4A1, SLC52A1, SOST, SOX9, TCAP, TMC6, TMC8, TNFRSF13B, TP53, TRPV3, TSEN54, UNC13D, UNC45B, VPS53, WDR81, WRAP53, 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
AXIN2 Oligodontia-colorectal cancer syndrome
B9D1 Meckel syndrome 9
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
CARD14 Psoriasis 2
CBX2 46,XY sex reversal 5
CCDC40 Ciliary dyskinesia, primary, 15
CD79B Agammaglobulinemia 6
CHRNB1 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, slow-channel congenital, 2A
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
CRYBA1 Cataract 10, multiple types
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
CTNS Cystinosis
DCXR Pentosuria
DGKE Nephrotic syndrome, type 7
DNAI2 Ciliary dyskinesia, primary, 9
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair
ELAC2 Combined oxidative phosphorylation deficiency 17
ENO3 Glycogen storage disease XIII
FAM20A Amelogenesis imperfecta, type IG (Enamel-renal syndrome)
FSCN2 Retinitis pigmentosa 30
GAA Glycogen storage disease II
GP1BA Bernard-Soulier syndrome, type A2
Bernard-Soulier syndrome, type A1
Pseudo-von Willebrand disease
GPR179 Night blindness, congenital stationary, type 1E
GUCY2D Cone-rod dystrophy 6
Leber congenital amaurosis, type 1
Cone-Rod dystrophy, autosomal recessive
HES7 Spondylocostal dysostosis 4, autosomal recessive
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
KIF1C Spastic ataxia 2, autosomal recessive
KLHL10 Spermatogenic failure 11
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
KRT12 Meesmann corneal dystrophy
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
KRT17 Steatocystoma multiplex
Pachyonychia congenita 2
KRT9 Palmoplantar keratoderma, epidermolytic
Knuckle pads
MAPT Supranuclear palsy, progressive
Frontotemporal dementia
Parkinson-dementia sydnrome
Pick disease
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)
NF1 Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
PGAP3 Hyperphosphatasia with mental retardation syndrome 4
PIK3R5 Ataxia-oculomotor apraxia 3
PITPNM3 Cone-rod dystrophy 5
PLEKHM1 Osteopetrosis, autosomal recessive 6
PMP22 Roussy-Levy syndrome
Charcot-Marie-Tooth syndrome, type 1A
Charcot-Marie-Tooth syndrome with deafness (type 1E)
Neuropathy, hereditary, with liability to pressurve palsies
Dejerine-Sottas disease
Neuropathy, inflammatory demyelinating
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
PRKAR1A Pigmented nodular adrenocortical disease, primary, 1
Carney complex, type 1
Myxoma, intracardiac
Acrodysostosis 1, with or without hormone resistance
PYCR1 Cutis laxa, autosomal recessive, type IIB
Cutis laxa, autosomal recessive type IIIB
RAD51D Ovarian cancer, familial, susceptibility to
RAI1 Smith-Magenis syndrome
RHBDF2 Tylosis with esophageal cancer
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
SEPT9 Amyotrophy, hereditary neuralgic
SERPINF1 Osteogenesis imperfecta, type VI
SERPINF2 Alpha-2-plasmin inhibitor deficiency
SGCA Muscular dystrophy, limb-girdle, type 2D
SLC25A19 Thiamine metabolism dysfunction syndrome 4
Microcephaly, Amish type
SLC46A1 Folate malabsorption, hereditary
SLC4A1 Spherocytosis, type 4
Ovalcytosis, Southeast Asian
Cryohydrocytosis
Renal tubular acidosis, distal, with hemolytic anemia
Renal tubular acidosis, distal, autosomal dominant
Renal tubular acidosis, distal, autosomal recessive
Blood group, Wright
Blood group, Waldner
Blood group, Diego
Blood group, Froese
Blood group, Swann
SLC52A1 Maternal riboflavin deficiency
SOST Craniodiaphyseal dysplasia, autosomal dominant
Sclerosteosis 1
van Buchem disease
SOX9 46, XY sex reversal 10
Campomelic dysplasia
TCAP Cardiomyopathy, dilated, 1N
Cardiomyopathy, familial hypertrophic 25
Muscular dystrophy, limb-girdle, type 2G
TMC6 Epidermodysplasia verruciformis
TMC8 Epidermodysplasia verruciformis
TNFRSF13B Immunoglobulin A deficiency 2
Common variable immunodeficiency 2
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer
TRPV3 Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2
TSEN54 Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
UNC13D Hemophagocytic lymphohistiocytosis, familial 3
UNC45B Cataract 43
VPS53 Pontocerebellar hypoplasia, type 2E
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WRAP53 Dyskeratosis congenita, autosomal recessive 3
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 2322
Number of Genes: 205

Export to: CSV

ABCA10
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 2020-005022-full_variant_table 17 rs11077414
dbSNP Clinvar 		67212031 10000.0 A G PASS 0/1 284 SYNONYMOUS_CODING LOW SILENT 0.06470 0.47140 0.42465 None None None None None None ABCA10|0.002179826|90.49%
View 2020-005022-full_variant_table 17 rs12941264
dbSNP Clinvar 		67215712 1627.0 C T PASS 0/1 183 SYNONYMOUS_CODING LOW SILENT 0.59844 0.59840 0.32759 None None None None None None ABCA10|0.002179826|90.49%
View 2020-005022-full_variant_table 17 rs4968849
dbSNP Clinvar 		67178316 2139.0 A G PASS 0/1 194 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71126 0.71130 0.24304 1.00 0.00 None None None None None None ABCA10|0.002179826|90.49%
View 2020-005022-full_variant_table 17 rs9909216
dbSNP Clinvar 		67212423 2068.0 G A PASS 0/1 196 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58067 0.58070 0.34515 0.03 0.00 None None None None None None ABCA10|0.002179826|90.49%
View 2020-005022-full_variant_table 17 rs11657804
dbSNP Clinvar 		67210992 439.0 T C PASS 0/1 111 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.26158 0.26160 0.29885 0.30 0.12 None None None None None None ABCA10|0.002179826|90.49%

ABCA5
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 2020-005022-full_variant_table 17 rs12449649
dbSNP Clinvar 		67260926 1849.0 A G PASS 0/1 231 SYNONYMOUS_CODING LOW SILENT 0.37939 0.37940 0.39114 None None None None None None ABCA5|0.269145961|29.93%
View 2020-005022-full_variant_table 17 rs557491
dbSNP Clinvar 		67267317 1834.0 T C PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49740 0.49740 0.45794 0.49 0.00 None None None None None None ABCA5|0.269145961|29.93%
View 2020-005022-full_variant_table 17 rs536009
dbSNP Clinvar 		67273882 10000.0 C A PASS 1/1 253 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80172 0.80170 0.22177 0.62 0.00 None None None None None None ABCA5|0.269145961|29.93%

ABCC3
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 2020-005022-full_variant_table 17 rs4148416
dbSNP Clinvar 		48753423 1865.0 C T PASS 0/1 204 SYNONYMOUS_CODING LOW SILENT 0.13698 0.13700 0.10095 None None None None None None ABCC3|0.044769991|64.26%
View 2020-005022-full_variant_table 17 rs967935
dbSNP Clinvar 		48755388 2045.0 C T off_target 0/1 174 None None None 0.12161 0.12160 0.09 None None None None None None ABCC3|0.044769991|64.26%
View 2020-005022-full_variant_table 17 rs11568591
dbSNP Clinvar 		48761053 2177.0 G A PASS 0/1 230 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01977 0.01977 0.04744 0.00 1.00 None None None None None None ABCC3|0.044769991|64.26%
View 2020-005022-full_variant_table 17 rs2277624
dbSNP Clinvar 		48761105 2553.0 C T PASS 0/1 226 SYNONYMOUS_CODING LOW SILENT 0.28694 0.28690 0.26465 None None None None None None ABCC3|0.044769991|64.26%
View 2020-005022-full_variant_table 17 rs35458882
dbSNP Clinvar 		48753019 1070.0 G T PASS 0/1 127 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 0.00046 None None None None None None ABCC3|0.044769991|64.26%

AC087645.1
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 2020-005022-full_variant_table 17 rs2239680
dbSNP Clinvar 		76219783 10000.0 T C off_target 1/1 220 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21765 0.21770 0.00 0.50 None None None None None None BIRC5|0.935922721|2.64%
View 2020-005022-full_variant_table 17 rs777250034
dbSNP Clinvar 		76219855 203.0 TTC T low_variant_fraction;off_target 0/1 224 FRAME_SHIFT HIGH None None None None None None BIRC5|0.935922721|2.64%

ACACA
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 2020-005022-full_variant_table 17 rs58654829
dbSNP Clinvar 		35696804 1310.0 G A PASS 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.58546 0.58550 0.34776 None None None None None None ACACA|0.94269074|2.39%
View 2020-005022-full_variant_table 17 rs1470452
dbSNP Clinvar 		35478362 10000.0 T C PASS 1/1 173 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 0.00108 None None None None None None ACACA|0.94269074|2.39%

ACE
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 2020-005022-full_variant_table 17 rs4362
dbSNP Clinvar 		61573761 10000.0 T C PASS 0/1 259 SYNONYMOUS_CODING LOW SILENT 0.58746 0.58750 0.49470 None None None None None None ACE|0.894558224|3.56%
View 2020-005022-full_variant_table 17 rs4316
dbSNP Clinvar 		61562309 10000.0 C T PASS 0/1 268 SYNONYMOUS_CODING LOW SILENT 0.51917 0.51920 0.42675 None None None None None None ACE|0.894558224|3.56%
View 2020-005022-full_variant_table 17 rs4309
dbSNP Clinvar 		61559923 2915.0 C T PASS 0/1 279 SYNONYMOUS_CODING LOW SILENT 0.42352 0.42350 0.33569 None None None None None None ACE|0.894558224|3.56%
View 2020-005022-full_variant_table 17 rs4331
dbSNP Clinvar 		61564052 2257.0 A G PASS 0/1 211 SYNONYMOUS_CODING LOW SILENT 0.52955 0.52960 0.44326 None None None None None None ACE|0.894558224|3.56%
View 2020-005022-full_variant_table 17 rs4343
dbSNP Clinvar 		61566031 959.0 G A PASS 0/1 111 SYNONYMOUS_CODING LOW SILENT 0.64317 0.64320 0.43987 None None None None None None ACE|0.894558224|3.56%

ACLY
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 2020-005022-full_variant_table 17 rs8065502
dbSNP Clinvar 		40048613 10000.0 A G PASS 1/1 226 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

ACOX1
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 2020-005022-full_variant_table 17 rs1135640
dbSNP Clinvar 		73949540 10000.0 G C PASS 1/1 202 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.55072 0.55070 0.49131 0.17 0.01 None None None None None None ACOX1|0.181440529|38.86%

ACTG1
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 2020-005022-full_variant_table 17 rs1139405
dbSNP Clinvar 		79478019 10000.0 G A PASS 1/1 173 SYNONYMOUS_CODING LOW SILENT 0.75619 0.75620 0.24543 None None None None None None ACTG1|0.983116739|1.38%

AIPL1
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 2020-005022-full_variant_table 17 rs8075035
dbSNP Clinvar 		6331803 1629.0 T C PASS 0/1 228 SYNONYMOUS_CODING LOW SILENT 0.57588 0.57590 0.39474 None None None None None None AIPL1|0.064852727|58.69%
View 2020-005022-full_variant_table 17 rs2292546
dbSNP Clinvar 		6330068 10000.0 T C PASS 1/1 183 SYNONYMOUS_CODING LOW SILENT 0.71366 0.71370 0.26134 None None None None None None AIPL1|0.064852727|58.69%

AKAP1
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 2020-005022-full_variant_table 17 rs2230772
dbSNP Clinvar 		55183203 10000.0 T C PASS 1/1 345 SYNONYMOUS_CODING LOW SILENT 0.47824 0.47820 0.39136 None None None None None None AKAP1|0.039700237|65.85%
View 2020-005022-full_variant_table 17 rs1050515
dbSNP Clinvar 		55183716 10000.0 T C PASS 1/1 226 SYNONYMOUS_CODING LOW SILENT 0.59066 0.59070 0.45917 None None None None None None AKAP1|0.039700237|65.85%

AKAP10
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 2020-005022-full_variant_table 17 rs2108978
dbSNP Clinvar 		19861458 10000.0 C T PASS 1/1 208 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38958 0.38960 0.44495 0.74 0.00 None None None None None None AKAP10|0.479048269|16.82%
View 2020-005022-full_variant_table 17 rs203462
dbSNP Clinvar 		19812541 10000.0 T C PASS 1/1 122 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39397 0.39400 0.45041 1.00 0.00 None None None None None None AKAP10|0.479048269|16.82%

ALOX12
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 2020-005022-full_variant_table 17 rs1042356
dbSNP Clinvar 		6902743 2481.0 G A PASS 0/1 259 SYNONYMOUS_CODING LOW SILENT 0.60184 0.60180 0.39466 None None None None None None ALOX12|0.072773622|56.83%
View 2020-005022-full_variant_table 17 rs312462
dbSNP Clinvar 		6913652 1137.0 G A PASS 0/1 114 SYNONYMOUS_CODING LOW SILENT 0.11921 0.11920 0.08873 None None None None None None ALOX12|0.072773622|56.83%
View 2020-005022-full_variant_table 17 rs1042357
dbSNP Clinvar 		6905061 2786.0 T G PASS 0/1 293 SYNONYMOUS_CODING LOW SILENT 0.57228 0.57230 0.42734 None None None None None None ALOX12|0.072773622|56.83%
View 2020-005022-full_variant_table 17 rs434473
dbSNP Clinvar 		6904934 1008.0 A G PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.34125 0.34130 0.34507 0.81 0.00 None None None None None None ALOX12|0.072773622|56.83%
View 2020-005022-full_variant_table 17 rs1126667
dbSNP Clinvar 		6902760 2149.0 A G PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60403 0.60400 0.39190 0.40 0.01 None None None None None None ALOX12|0.072773622|56.83%
View 2020-005022-full_variant_table 17 rs312467
dbSNP Clinvar 		6899559 2639.0 C G PASS 1/1 92 SYNONYMOUS_CODING LOW SILENT 0.00140 0.94930 None None None None None None ALOX12|0.072773622|56.83%

ALOX15
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 2020-005022-full_variant_table 17 rs3892408
dbSNP Clinvar 		4541604 1373.0 C T PASS 0/1 266 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None ALOX15|0.017879585|75.36%

ALOXE3
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 2020-005022-full_variant_table 17 rs3809881
dbSNP Clinvar 		7999957 1351.0 G A PASS 0/1 139 SYNONYMOUS_CODING LOW SILENT 0.42472 0.42470 0.36845 None None None None None None ALOXE3|0.073088496|56.77%
View 2020-005022-full_variant_table 17 rs3027229
dbSNP Clinvar 		8021608 1264.0 G C PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14357 0.14360 0.02 0.02 None None None None None None ALOXE3|0.073088496|56.77%

ASPSCR1
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 2020-005022-full_variant_table 17 rs13087
dbSNP Clinvar 		79974731 2565.0 T C PASS 0/1 259 SYNONYMOUS_CODING LOW SILENT 0.58027 0.58030 0.35362 None None None None None None ASPSCR1|0.049924579|62.68%

AURKB
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 2020-005022-full_variant_table 17 rs2241909
dbSNP Clinvar 		8108339 10000.0 G A PASS 1/1 167 SYNONYMOUS_CODING LOW SILENT 0.62081 0.62080 0.38167 None None None None None None AURKB|0.524730103|14.76%
View 2020-005022-full_variant_table 17 rs1059476
dbSNP Clinvar 		8108331 10000.0 A G PASS 1/1 173 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73602 0.73600 0.17815 0.44 0.00 None None None None None None AURKB|0.524730103|14.76%

AXIN2
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 2020-005022-full_variant_table 17 rs1133683
dbSNP Clinvar 		63533768 1740.0 G A PASS 0/1 158 SYNONYMOUS_CODING LOW SILENT 0.44609 0.44610 0.45993 None None None None None None AXIN2|0.837375797|4.92%
View 2020-005022-full_variant_table 17 rs9915936
dbSNP Clinvar 		63533789 10000.0 T C PASS 1/1 190 SYNONYMOUS_CODING LOW SILENT 0.90974 0.90970 0.08912 None None None None None None AXIN2|0.837375797|4.92%

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 2020-005022-full_variant_table 17 rs7207403
dbSNP Clinvar 		47210506 3069.0 C A PASS 0/1 265 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43111 0.43110 0.44411 0.93 0.00 None None None None None None B4GALNT2|0.038585126|66.26%
View 2020-005022-full_variant_table 17 rs7207842
dbSNP Clinvar 		47210429 10000.0 A G PASS 1/1 261 SYNONYMOUS_CODING LOW SILENT 0.74221 0.74220 0.19479 None None None None None None B4GALNT2|0.038585126|66.26%
View 2020-005022-full_variant_table 17 rs117575112
dbSNP Clinvar 		47210469 2951.0 G A PASS 0/1 276 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05591 0.05591 0.04676 0.02 0.09 None None None None None None B4GALNT2|0.038585126|66.26%
View 2020-005022-full_variant_table 17 rs8074457
dbSNP Clinvar 		47241604 10000.0 T C PASS 1/1 230 SYNONYMOUS_CODING LOW SILENT 0.99621 0.99620 0.00554 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 2020-005022-full_variant_table 17 rs868006869
dbSNP Clinvar 		19261215 1976.0 C T PASS 0/1 220 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45 0.04 None None None None None None B9D1|0.081015319|54.99%

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 2020-005022-full_variant_table 17 rs2071214
dbSNP Clinvar 		76219591 10000.0 G A PASS 1/1 230 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92911 0.92910 0.03414 1.00 0.00 None None None None None None BIRC5|0.935922721|2.64%

BLMH
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 2020-005022-full_variant_table 17 rs7342921
dbSNP Clinvar 		28612448 1790.0 G C PASS 0/1 202 SYNONYMOUS_CODING LOW SILENT 0.26877 0.26880 0.30055 None None None None None None BLMH|0.775117615|6.44%
View 2020-005022-full_variant_table 17 rs1050565
dbSNP Clinvar 		28576076 3201.0 T C PASS 0/1 330 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25379 0.25380 0.28541 1.00 0.00 None None None None None None BLMH|0.775117615|6.44%

BRCA1
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 2020-005022-full_variant_table 17 rs16942
dbSNP Clinvar 		41244000 10000.0 T C PASS 0/1 359 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35264 0.35260 0.29525 1.00 0.00 None None None None None None BRCA1|0.986984945|1.2%
View 2020-005022-full_variant_table 17 rs1060915
dbSNP Clinvar 		41234470 10000.0 A G PASS 0/1 285 SYNONYMOUS_CODING LOW SILENT 0.33626 0.33630 0.27956 None None None None None None BRCA1|0.986984945|1.2%
View 2020-005022-full_variant_table 17 rs1799966
dbSNP Clinvar 		41223094 10000.0 T C PASS 0/1 314 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35583 0.35580 0.29817 0.12 0.07 None None None None None None BRCA1|0.986984945|1.2%
View 2020-005022-full_variant_table 17 rs799917
dbSNP Clinvar 		41244936 2463.0 G A PASS 0/1 238 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54393 0.54390 0.49316 1.00 0.00 None None None None None None BRCA1|0.986984945|1.2%
View 2020-005022-full_variant_table 17 rs16940
dbSNP Clinvar 		41245237 2721.0 A G PASS 0/1 225 SYNONYMOUS_CODING LOW SILENT 0.33526 0.33530 0.27764 None None None None None None BRCA1|0.986984945|1.2%
View 2020-005022-full_variant_table 17 rs4986850
dbSNP Clinvar 		41245471 2088.0 C T PASS 0/1 221 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03355 0.03355 0.05429 0.01 0.03 None None None None None None BRCA1|0.986984945|1.2%
View 2020-005022-full_variant_table 17 rs16941
dbSNP Clinvar 		41244435 3175.0 T C PASS 0/1 297 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33566 0.33570 0.27903 0.17 0.00 None None None None None None BRCA1|0.986984945|1.2%
View 2020-005022-full_variant_table 17 rs1799949
dbSNP Clinvar 		41245466 2009.0 G A PASS 0/1 208 SYNONYMOUS_CODING LOW SILENT 0.33646 0.33650 0.29568 None None None None None None BRCA1|0.986984945|1.2%

BRIP1
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 2020-005022-full_variant_table 17 rs4986765
dbSNP Clinvar 		59763465 10000.0 T C PASS 1/1 194 SYNONYMOUS_CODING LOW SILENT 0.81510 0.81510 0.26572 None None None None None None BRIP1|0.463785702|17.47%
View 2020-005022-full_variant_table 17 rs4986764
dbSNP Clinvar 		59763347 10000.0 A G PASS 1/1 186 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62780 0.62780 0.38659 0.94 0.00 None None None None None None BRIP1|0.463785702|17.47%
View 2020-005022-full_variant_table 17 rs4986763
dbSNP Clinvar 		59760996 10000.0 A G PASS 1/1 245 SYNONYMOUS_CODING LOW SILENT 0.62081 0.62080 0.39396 None None None None None None BRIP1|0.463785702|17.47%

C17orf70
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 2020-005022-full_variant_table 17 rs11552304
dbSNP Clinvar 		79514129 1855.0 G A PASS 0/1 160 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.55631 0.55630 0.42195 0.08 0.04 None None None None None None C17orf70|0.008276506|82.38%
View 2020-005022-full_variant_table 17 rs14422
dbSNP Clinvar 		79508400 10000.0 T C PASS 1/1 228 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94649 0.94650 0.07611 1.00 0.00 None None None None None None C17orf70|0.008276506|82.38%
View 2020-005022-full_variant_table 17 rs8077430
dbSNP Clinvar 		79511135 2106.0 A G PASS 0/1 186 SYNONYMOUS_CODING LOW SILENT 0.70447 0.70450 0.30286 None None None None None None C17orf70|0.008276506|82.38%
View 2020-005022-full_variant_table 17 rs7224579
dbSNP Clinvar 		79514832 644.0 G A off_target 0/1 51 None None None 0.55631 0.55630 0.02 0.00 None None None None None None C17orf70|0.008276506|82.38%

CACNA1G
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 2020-005022-full_variant_table 17 rs12449998
dbSNP Clinvar 		48653354 815.0 C A PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.52396 0.52400 0.37423 None None None None None None CACNA1G|0.364374297|23.14%
View 2020-005022-full_variant_table 17 rs2301835
dbSNP Clinvar 		48701800 2169.0 C T PASS 0/1 163 SYNONYMOUS_CODING LOW SILENT 0.11582 0.11580 0.09805 None None None None None None CACNA1G|0.364374297|23.14%
View 2020-005022-full_variant_table 17 rs739925
dbSNP Clinvar 		48703752 1648.0 T C PASS 0/1 163 SYNONYMOUS_CODING LOW SILENT 0.36721 0.36720 0.45722 None None None None None None CACNA1G|0.364374297|23.14%

CACNG4
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 2020-005022-full_variant_table 17 rs11649752
dbSNP Clinvar 		65026886 2661.0 C T PASS 0/1 185 SYNONYMOUS_CODING LOW SILENT 0.05970 0.05970 0.07781 None None None None None None CACNG4|0.127367032|46.28%

CAMKK1
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 2020-005022-full_variant_table 17 rs7214723
dbSNP Clinvar 		3775848 2501.0 T C PASS 0/1 238 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.39537 0.39540 0.35307 0.05 0.01 None None None None None None CAMKK1|0.110934351|49.01%
View 2020-005022-full_variant_table 17 rs7214864
dbSNP Clinvar 		3775916 3103.0 T C PASS 0/1 232 SYNONYMOUS_CODING LOW SILENT 0.62919 0.62920 0.29386 None None None None None None CAMKK1|0.110934351|49.01%

CAMTA2
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 2020-005022-full_variant_table 17 rs238230
dbSNP Clinvar 		4875566 10000.0 T C PASS 1/1 230 SYNONYMOUS_CODING LOW SILENT 0.57688 0.57690 0.32631 None None None None None None CAMTA2|0.198423444|36.88%
View 2020-005022-full_variant_table 17 rs238234
dbSNP Clinvar 		4883818 2867.0 C G PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71865 0.71870 0.15050 1.00 0.00 None None None None None None CAMTA2|0.198423444|36.88%

CARD14
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 2020-005022-full_variant_table 17 rs62074378
dbSNP Clinvar 		78169004 2441.0 G A PASS 0/1 234 SYNONYMOUS_CODING LOW SILENT 0.01777 0.01777 0.03237 None None None None None None CARD14|0.016890899|75.93%
View 2020-005022-full_variant_table 17 rs74951924
dbSNP Clinvar 		78165202 10000.0 C T PASS 0/1 286 SYNONYMOUS_CODING LOW SILENT 0.02196 0.02196 0.03744 None None None None None None CARD14|0.016890899|75.93%
View 2020-005022-full_variant_table 17 rs4889990
dbSNP Clinvar 		78157995 10000.0 G A PASS 0/1 303 SYNONYMOUS_CODING LOW SILENT 0.34705 0.34700 0.38670 None None None None None None CARD14|0.016890899|75.93%
View 2020-005022-full_variant_table 17 rs61757652
dbSNP Clinvar 		78178916 2004.0 C T PASS 0/1 236 SYNONYMOUS_CODING LOW SILENT 0.10004 0.10000 0.06551 None None None None None None CARD14|0.016890899|75.93%

CBX2
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 2020-005022-full_variant_table 17 rs3751957
dbSNP Clinvar 		77758691 2683.0 G A PASS 0/1 228 SYNONYMOUS_CODING LOW SILENT 0.42312 0.42310 0.35868 None None None None None None CBX2|0.015272842|76.96%

CCDC40
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 2020-005022-full_variant_table 17 rs2304854
dbSNP Clinvar 		78073562 762.0 A G PASS 0/1 69 SYNONYMOUS_CODING LOW SILENT 0.50160 0.50160 0.49195 None None None None None None CCDC40|0.000987297|95.52%
View 2020-005022-full_variant_table 17 rs7210679
dbSNP Clinvar 		78063996 138.0 A G low_variant_fraction;off_target 0/1 87 None None None 0.19109 0.19110 0.18 0.00 None None None None None None CCDC40|0.000987297|95.52%
View 2020-005022-full_variant_table 17 rs4889953
dbSNP Clinvar 		78064015 1697.0 G C off_target 0/1 104 None None None 0.67252 0.67250 0.18 0.00 None None None None None None CCDC40|0.000987297|95.52%
View 2020-005022-full_variant_table 17 rs7207166
dbSNP Clinvar 		78064064 1491.0 G A off_target 0/1 101 None None None 0.75599 0.75600 0.06 0.98 None None None None None None CCDC40|0.000987297|95.52%
View 2020-005022-full_variant_table 17 rs10693712
dbSNP Clinvar 		78064145 826.0 A ACAC off_target 0/1 90 None None None 0.65475 0.65480 None None None None None None CCDC40|0.000987297|95.52%
View 2020-005022-full_variant_table 17 rs12952612
dbSNP Clinvar 		78071052 1875.0 T C PASS 0/1 143 SYNONYMOUS_CODING LOW SILENT 0.71426 0.71430 0.26281 None None None None None None CCDC40|0.000987297|95.52%
View 2020-005022-full_variant_table 17 rs2289527
dbSNP Clinvar 		78013724 10000.0 G C PASS 1/1 215 SYNONYMOUS_CODING LOW SILENT 0.95727 0.95730 0.00622 None None None None None None CCDC40|0.000987297|95.52%
View 2020-005022-full_variant_table 17 rs2289531
dbSNP Clinvar 		78023722 1511.0 C T PASS 0/1 174 SYNONYMOUS_CODING LOW SILENT 0.11222 0.11220 0.09718 None None None None None None CCDC40|0.000987297|95.52%
View 2020-005022-full_variant_table 17 rs35578653
dbSNP Clinvar 		78055758 2944.0 T G PASS 0/1 253 SYNONYMOUS_CODING LOW SILENT 0.46426 0.46430 0.47895 None None None None None None CCDC40|0.000987297|95.52%

CCL11
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 2020-005022-full_variant_table 17 rs1129844
dbSNP Clinvar 		32612894 1313.0 G A PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14437 0.14440 0.14970 0.07 0.11 None None None None None None CCL11|0.005969323|84.61%

CCL2
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 2020-005022-full_variant_table 17 rs4586
dbSNP Clinvar 		32583269 2590.0 T C PASS 0/1 243 SYNONYMOUS_CODING LOW SILENT 0.54233 0.54230 0.46402 None None None None None None CCL2|0.171355793|40.13%

CD79B
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 2020-005022-full_variant_table 17 rs2070776
dbSNP Clinvar 		62007498 10000.0 A G PASS 1/1 163 SYNONYMOUS_CODING LOW SILENT 0.56170 0.56170 0.34038 None None None None None None CD79B|0.010369539|80.59%

CDK5RAP3
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 2020-005022-full_variant_table 17 rs61741125
dbSNP Clinvar 		46052883 2475.0 G A PASS 0/1 204 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01757 0.01757 0.02867 0.80 0.03 None None None None None None CDK5RAP3|0.244591627|32.06%

CHD3
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 2020-005022-full_variant_table 17 rs781353736
dbSNP Clinvar 		7788145 147.0 CGAG C low_variant_fraction 0/1 54 CODON_DELETION MODERATE 0.04529 None None None None None None NAA38|0.548761637|13.79%,CHD3|0.476648127|16.92%

CHRNB1
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 2020-005022-full_variant_table 17 rs17856697
dbSNP Clinvar 		7348625 10000.0 A G PASS 1/1 255 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12061 0.12060 0.25585 0.05 0.24 None None None None None None CHRNB1|0.211772931|35.4%

CLEC10A
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 2020-005022-full_variant_table 17 rs732828
dbSNP Clinvar 		6981353 1278.0 G C PASS 0/1 149 SYNONYMOUS_CODING LOW SILENT 0.41234 0.41230 0.42573 None None None None None None CLEC10A|0.005280517|85.46%
View 2020-005022-full_variant_table 17 rs90951
dbSNP Clinvar 		6981397 1183.0 A G PASS 0/1 145 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51997 0.52000 0.48785 0.07 0.00 None None None None None None CLEC10A|0.005280517|85.46%

COG1
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 2020-005022-full_variant_table 17 rs1551036
dbSNP Clinvar 		71197439 1810.0 C T PASS 0/1 211 SYNONYMOUS_CODING LOW SILENT 0.13179 0.13180 0.14094 None None None None None None COG1|0.033535253|67.93%
View 2020-005022-full_variant_table 17 rs1037256
dbSNP Clinvar 		71197748 10000.0 G A PASS 1/1 215 SYNONYMOUS_CODING LOW SILENT 0.52536 0.52540 0.46494 None None None None None None COG1|0.033535253|67.93%