A variant was discovered in gene COL1A1, LOC126862586 (collagen type I alpha 1 chain| CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1