A: The variant NC_000022.11:g.17592721G>A in gene ATP6V1E1 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Cutis_laxa|Autosomal_recessive_cutis_laxa_type_2C|RASopathy. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|Human_Phenotype_Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495,Orphanet:209|MONDO:MONDO:0027462,MedGen:C4479387,OMIM:617402|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391. Review status: criteria provided, multiple submitters, no conflicts.