A: The variant NC_000020.11:g.25309577T>C in gene ABHD12 is classified as 'Likely_pathogenic' for PHARC_syndrome|Retinal_dystrophy. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012984,MedGen:C2675204,OMIM:612674,Orphanet:171848|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: no assertion criteria provided.