A: The variant NC_000020.11:g.3918695G>A in gene PANK2 is classified as 'Pathogenic' for Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency|Pigmentary_pallidal_degeneration|Hypoprebetalipoproteinemia,_acanthocytosis,_retinitis_pigmentosa,_and_pallidal_degeneration|not_provided|Retinitis_pigmentosa|Inborn_genetic_diseases. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|MONDO:MONDO:0009319,MedGen:C0018523,OMIM:234200,Orphanet:157850|MONDO:MONDO:0011798,MedGen:C1846582|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.