A: The variant NC_000021.9:g.45509554C>T in gene SLC19A1 is classified as 'Pathogenic' for Retinal_dystrophy|Cataract|Nystagmus|High_myopia|not_provided. Molecular consequence: SO:0001587: nonsense. 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|Human_Phenotype_Ontology:HP:0000518,MONDO:MONDO:0005129,MeSH:D002386,MedGen:C0086543,OMIM:PS116200|Human_Phenotype_Ontology:HP:0000639,MONDO:MONDO:0004843,MedGen:C0028738|Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183|MedGen:C3661900. Review status: criteria provided, single submitter.