A: The variant NC_000022.11:g.17600079A>G in gene ATP6V1E1 is classified as 'Pathogenic' for Autosomal_recessive_cutis_laxa_type_2C. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0027462,MedGen:C4479387,OMIM:617402. Review status: no assertion criteria provided.