Gene COL3A1, LOC126806446 (collagen type III alpha 1 chain| P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT