A: The variant NC_000019.10:g.48552325T>A in gene SULT2B1 is classified as 'Pathogenic' for Ichthyosis,_congenital,_autosomal_recessive_14|Autosomal_recessive_congenital_ichthyosis_2. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0033091,MedGen:C4539754,OMIM:617571|MONDO:MONDO:0009439,MedGen:C3888093,OMIM:242100,Orphanet:281122,Orphanet:79394. Review status: criteria provided, single submitter.