A: The variant NC_000020.11:g.36927253C>G in gene SAMHD1 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Aicardi-Goutieres_syndrome_5|Chilblain_lupus_2. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0013059,MedGen:C2749659,OMIM:612952,Orphanet:51|MONDO:MONDO:0013739,MedGen:C3280721,OMIM:614415. Review status: criteria provided, multiple submitters, no conflicts.