Search results for BFSP2

Gene symbol Genotype Mutation consequence Disease Panels Go to page
BFSP2 monoallelic_autosomal uncertain CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED DD
BFSP2 biallelic_autosomal altered gene product structure CATARACT 12, MULTIPLE TYPES (biallelic, all missense/in frame) Eye
BFSP2 monoallelic_autosomal uncertain CATARACT 12, MULTIPLE TYPES Eye