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Details of Gene

Item Details
Gene/Locus name

COL1A2 (also called )

Long Name

collagen type I alpha 2 chain (OMIM 120160)

Associated Disorders

OMIM 166210 : Osteogenesis imperfecta, type II
OMIM 259420 : Osteogenesis imperfecta, type III
OMIM 166220 : Osteogenesis imperfecta, type IV
OMIM 617821 : Ehlers-Danlos syndrome, arthrochalasia type, 2
OMIM 225320 : Ehlers-Danlos syndrome, cardiac valvular type
OMIM 166710 : Osteoporosis, postmenopausal

Interpretation / Comment

Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.

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