A: The variant NC_000022.11:g.20859112T>C in gene SNAP29 is classified as 'Pathogenic/Likely_pathogenic' for CEDNIK_syndrome|Hypomyelinating_leukodystrophy_2|not_provided. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012290,MedGen:C1836033,OMIM:609528,Orphanet:66631|MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804,Orphanet:280270,Orphanet:280282|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.