A: The variant NC_000022.11:g.32859271A>G in gene TIMP3 is classified as 'Pathogenic' for Retinal_dystrophy. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862. Review status: criteria provided, single submitter.