ClinVar Miner

List of variants reported as association for bone inflammation disease by HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas

Included ClinVar conditions (30):

Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Osteoarthritis; Spondyloepimetaphyseal dysplasia, Strudwick type
Arthritis, sacroiliac; Scoliosis; Arthritis; Inflammation of the large intestine; Kyphosis; Low back pain; Sacroiliac joint synovitis; Enthesitis; Synovitis
Chondrocalcinosis
Chondrocalcinosis 2
Chondrocalcinosis 2; Craniometaphyseal dysplasia, autosomal dominant
Chronic multifocal osteomyelitis
Colitis; Immunodeficiency; Skin rash; Arthritis
Colitis; Immunodeficiency; Skin rash; Arthritis; Decreased circulating antibody level
Imperforate anus; Atrial septal defect; Psoriasiform dermatitis; 2-3 toe syndactyly; Abnormal facial shape; Delayed speech and language development; Single umbilical artery; Arthritis; Intellectual disability, moderate; Delayed skeletal maturation; Vertebral fusion; Coronary artery atherosclerosis; Peripheral pulmonary artery stenosis; Absent/hypoplastic coccyx; Ventricular septal defect
Infantile cortical hyperostosis
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta type I
Infantile cortical hyperostosis; Osteogenesis imperfecta; Ehlers-danlos syndrome, arthrochalasia type, 2
MHC class II deficiency; Rheumatoid arthritis
Majeed syndrome
Microvascular complications of diabetes, susceptibility to, 4; Sterile multifocal osteomyelitis with periostitis and pustulosis; Gastric cancer
Osteoarthritis
Osteoarthritis, hip
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Osteogenesis imperfecta type I; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
Pancytopenia; Arthritis; Abnormal autonomic nervous system physiology; Gastrointestinal dysmotility; Polyarticular arthritis; Sinus tachycardia; Chronic pain; Inappropriate sinus tachycardia
Rheumatoid arthritis
Rheumatoid arthritis, progression of
Rheumatoid arthritis, systemic juvenile, susceptibility to
Rheumatoid arthritis; Abnormal pulmonary interstitial morphology
Sterile multifocal osteomyelitis with periostitis and pustulosis
Susceptibility to HIV infection; Rheumatoid arthritis; Graft-versus-host disease, susceptibility to

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_012387.3(PADI4):c.349T>C (p.Leu117=)	rs1748033	0.63756
NM_007365.3(PADI2):c.1159-39G>A	rs2057094	0.56206
NM_012387.3(PADI4):c.245T>C (p.Val82Ala)	rs11203367	0.55848
NM_012387.3(PADI4):c.163G>A (p.Gly55Ser)	rs11203366	0.55047
NM_007365.3(PADI2):c.92+1006C>A	rs1005753	0.54320
NM_007365.3(PADI2):c.729T>G (p.Gly243=)	rs2076615	0.26663
NM_007365.3(PADI2):c.*258A>T	rs2235926
NM_012387.3(PADI4):c.335G>C (p.Gly112Ala)	rs874881

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