"Genome-Nilou Lab"[submitter] AND "ASNS"[gene] - 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 1185215	NM_001673.5(ASNS):c.1238+142G>C	CZ1P-ASNS, ASNS	Single nucleotide variant (intron variant)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GBenign/Likely benign
Select item 1195918	NM_001673.5(ASNS):c.1058G>A (p.Arg353Gln)	ASNS, CZ1P-ASNS (R270Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
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 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

ClinVar