A: The variant NC_000020.11:g.58665430_58669796del in gene STX16 is classified as 'Pathogenic' for Pseudohypoparathyroidism_type_1B. Molecular consequence: SO:0001574: splice_acceptor_variant,SO:0001575: splice_donor_variant,SO:0001582: initiator_codon_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0011301,MedGen:C1864100,OMIM:603233,Orphanet:94089. Review status: no assertion criteria provided.