A: The variant NC_000019.10:g.49861819_49861820insGTCGATGGCGACCCGTT in gene PNKP is classified as 'Likely_pathogenic' for Global_developmental_delay|Primary_microcephaly|Cerebellar_atrophy. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Insertion. Disease database links: Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0011451,MedGen:C2677180|Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279. Review status: no assertion criteria provided.