A: The variant NC_000020.11:g.6097034C>T in gene FERMT1 is classified as 'Likely_pathogenic' for Abnormality_of_the_skin. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159. Review status: criteria provided, single submitter.