A: The variant NC_000021.9:g.45510091_45510092del in gene SLC19A1 is classified as 'Pathogenic' for Hereditary_glaucoma,_primary_closed-angle|Retinitis_pigmentosa|Knobloch_syndrome_1|Macular_dystrophy|Knobloch_syndrome|not_provided|Retinal_dystrophy. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0030038,MedGen:C5394374,OMIM:618880|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0800167,MedGen:C4551775,OMIM:267750|Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292|MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571|MedGen:C3661900|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, multiple submitters, no conflicts.