ClinVar Miner

List of variants in gene CIITA reported as uncertain significance for bone inflammation disease

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000246.4(CIITA):c.413T>C (p.Val138Ala)	rs142469968	0.00072
NM_000246.4(CIITA):c.*125C>T	rs548867769	0.00054
NM_000246.4(CIITA):c.*465G>A	rs190253856	0.00052
NM_000246.4(CIITA):c.931A>G (p.Met311Val)	rs140139362	0.00050
NM_000246.4(CIITA):c.286G>A (p.Ala96Thr)	rs149253747	0.00049
NM_000246.4(CIITA):c.2651G>A (p.Arg884His)	rs374443915	0.00048
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn)	rs138790505	0.00029
NM_000246.4(CIITA):c.307C>A (p.Gln103Lys)	rs371519540	0.00007
NM_000246.4(CIITA):c.1556C>T (p.Pro519Leu)	rs141006925	0.00006
NM_000246.4(CIITA):c.3197G>A (p.Arg1066His)	rs142072017	0.00006
NM_000246.4(CIITA):c.2096C>T (p.Pro699Leu)	rs369787912	0.00003
NM_000246.4(CIITA):c.3217T>A (p.Ser1073Thr)	rs761139192	0.00003
NM_000246.4(CIITA):c.2817-8C>G	rs775728920	0.00002
NM_000246.4(CIITA):c.1939C>T (p.Arg647Cys)	rs372705496	0.00001
NM_000246.4(CIITA):c.2375A>T (p.Tyr792Phe)	rs1234424650	0.00001
NM_000246.4(CIITA):c.2564C>T (p.Ala855Val)	rs760864976	0.00001
NM_000246.4(CIITA):c.2831C>T (p.Ser944Leu)	rs750740701	0.00001
NM_000246.4(CIITA):c.631C>T (p.Pro211Ser)	rs201764329	0.00001
NM_000246.4(CIITA):c.174A>T (p.Gly58=)	rs759412177
NM_000246.4(CIITA):c.2113G>A (p.Glu705Lys)	rs143304499
NM_000246.4(CIITA):c.2113G>C (p.Glu705Gln)	rs143304499
NM_000246.4(CIITA):c.2515C>G (p.Arg839Gly)	rs1175375174
NM_000246.4(CIITA):c.673G>A (p.Gly225Arg)
NM_000246.4(CIITA):c.929A>T (p.Asn310Ile)	rs1567409783
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu)	rs74806537

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