A: The variant NC_000022.11:g.40354266C>T in gene ADSL is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Severe_global_developmental_delay|Generalized_myoclonic_seizure|Progressive_neurologic_deterioration|Inability_to_walk|Difficulty_standing|Adenylosuccinate_lyase_deficiency. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397|Human_Phenotype_Ontology:HP:0002123,Human_Phenotype_Ontology:HP:0006869,Human_Phenotype_Ontology:HP:0006902,Human_Phenotype_Ontology:HP:0007075,Human_Phenotype_Ontology:HP:0007202,Human_Phenotype_Ontology:HP:0007284,Human_Phenotype_Ontology:HP:0007294,MedGen:C4021759|Human_Phenotype_Ontology:HP:0002344,MedGen:C1854838|Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046|Human_Phenotype_Ontology:HP:0003698,MedGen:C0241237|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050,Orphanet:46. Review status: criteria provided, multiple submitters, no conflicts.