"ASNS-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 728953	NM_001673.5(ASNS):c.1587G>A (p.Arg529=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	ASNS-related disorder +2 more	GBenign/Likely benign
Select item 729858	NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe)	ASNS, CZ1P-ASNS (S434F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3058644	NM_001673.5(ASNS):c.1030+6G>A	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	ASNS-related disorder	GLikely benign
Select item 2151632	NM_001673.5(ASNS):c.1021G>A (p.Ala341Thr)	ASNS, CZ1P-ASNS (A258T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ASNS-related disorder +1 more	GUncertain significance
Select item 707980	NM_001673.5(ASNS):c.591A>C (p.Ala197=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	ASNS-related disorder +1 more	GBenign/Likely benign
Select item 799073	NM_001673.5(ASNS):c.510C>T (p.Ser170=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1085112	NM_001673.5(ASNS):c.204G>A (p.Pro68=)	CZ1P-ASNS, ASNS	Single nucleotide variant (non-coding transcript variant +2 more)	ASNS-related disorder +1 more	GLikely benign
Select item 771726	NM_001673.5(ASNS):c.18G>A (p.Ala6=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +2 more)	ASNS-related disorder +1 more	GBenign