"ASL-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92360	NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	ASL (R12Q)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 721020	NM_000048.4(ASL):c.99C>G (p.His33Gln)	ASL (H33Q)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 3032644	NM_000048.4(ASL):c.407T>C (p.Leu136Pro)	ASL (L136P)	Single nucleotide variant (missense variant)	ASL-related disorder	GUncertain significance
Select item 203626	NM_000048.4(ASL):c.436C>T (p.Arg146Trp)	ASL (R146W)	Single nucleotide variant (missense variant)	ASL-related disorder +1 more	GPathogenic
Select item 1636594	NM_000048.4(ASL):c.603-5T>C	ASL	Single nucleotide variant (intron variant)	ASL-related disorder +1 more	GLikely benign
Select item 1094402	NM_000048.4(ASL):c.656-5C>T	ASL	Single nucleotide variant (intron variant)	ASL-related disorder +1 more	GLikely benign
Select item 388245	NM_000048.4(ASL):c.927G>T (p.Gly309=)	ASL	Single nucleotide variant (synonymous variant +1 more)	Argininosuccinate lyase deficiency +2 more	GBenign/Likely benign
Select item 21253	NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)	ASL (Q354* +2 more)	Single nucleotide variant	not provided +2 more	GPathogenic
Select item 660049	NM_000048.4(ASL):c.1366C>T (p.Arg456Trp)	ASL (R436W +2 more)	Single nucleotide variant (missense variant)	ASL-related disorder +1 more	GPathogenic