A: The variant NC_000020.11:g.25441709G>A in gene GINS1 is classified as 'Likely_pathogenic' for Combined_immunodeficiency_due_to_GINS1_deficiency. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0044725,MedGen:C5568132,OMIM:617827,Orphanet:505227. Review status: criteria provided, single submitter.