"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68115	NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys)	ARSA (R386C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3064909	NM_000487.6(ARSA):c.641C>A (p.Ala214Asp)	ARSA (A128D +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 1430325	NM_000487.6(ARSA):c.605G>A (p.Arg202His)	ARSA (R116H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3064815	NM_000487.6(ARSA):c.418C>T (p.His140Tyr)	ARSA (H140Y +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 370472	NM_000487.6(ARSA):c.418del (p.His140fs)	ARSA (H140fs +1 more)	Deletion (frameshift variant)	Metachromatic leukodystrophy	GConflicting classifications of pathogenicity
Select item 3067910	NM_000487.6(ARSA):c.362G>A (p.Gly121Glu)	ARSA (G121E +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance

ClinVar