A: The variant NC_000022.11:g.20870453dup in gene SNAP29 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Inborn_genetic_diseases|CEDNIK_syndrome|Hypomyelinating_leukodystrophy_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012290,MedGen:C1836033,OMIM:609528,Orphanet:66631|MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804,Orphanet:280270,Orphanet:280282. Review status: criteria provided, multiple submitters, no conflicts.