A: The variant NC_000023.11:g.9739671_9739672dup in gene GPR143 is classified as 'Pathogenic' for Ocular_albinism,_type_I. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0021019,MedGen:C0342684,OMIM:300500,Orphanet:54. Review status: no assertion criteria provided.