ClinVar Miner

List of variants reported as likely pathogenic for arthropathy

Included ClinVar conditions (19):

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
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
MHC class II deficiency; Rheumatoid arthritis
Osteoarthritis
Osteoarthritis, hip
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
Susceptibility to HIV infection; Rheumatoid arthritis; Graft-versus-host disease, susceptibility to
Synovial plica syndrome
Temporomandibular joint disorder

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

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000246.4(CIITA):c.170C>A (p.Ala57Asp)	rs1555500356	0.00001
NM_003177.7(SYK):c.1350G>A (p.Met450Ile)	rs1304839707	0.00001
NM_001290223.2(DOCK1):c.2012T>A (p.Phe671Tyr)	rs1466192762
NM_003177.7(SYK):c.1024C>A (p.Pro342Thr)	rs1827861920
NM_054027.6(ANKH):c.13C>T (p.Pro5Ser)	rs121908410
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter)	rs1803878901

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.