A: The variant NC_000020.11:g.51791103AG[2] in gene SALL4 is classified as 'Likely_pathogenic' for SALL4-related_disorder. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Microsatellite. Disease database links: .. Review status: criteria provided, single submitter.