A: The variant NC_000019.10:g.49861508A>C in gene PNKP is classified as 'Uncertain_significance' for Microcephaly,_seizures,_and_developmental_delay|Ataxia_-_oculomotor_apraxia_type_4|Pyridoxine-dependent_epilepsy. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013254,MedGen:C3150667,OMIM:613402,Orphanet:1934|MONDO:MONDO:0014557,MedGen:C4225397,OMIM:616267,Orphanet:459033|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006. Review status: criteria provided, multiple submitters, no conflicts.