"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185214	NM_001673.5(ASNS):c.1477-32G>A	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1272936	NM_001673.5(ASNS):c.904-85A>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1165885	NM_001673.5(ASNS):c.776-13C>T	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +2 more	GBenign
Select item 680024	NM_001673.5(ASNS):c.775+13dup	ASNS, CZ1P-ASNS	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1185229	NM_001673.5(ASNS):c.674-83T>C	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +2 more	GBenign
Select item 667997	NM_001673.5(ASNS):c.629T>A (p.Val210Glu)	ASNS, CZ1P-ASNS (V127E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1185230	NM_001673.5(ASNS):c.488-23A>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1264153	NM_001673.5(ASNS):c.-23-44T>C	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not specified +1 more	GBenign

ClinVar