"Pathology and Clinical Laboratory Medicine, King Fahad Medical City"[ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339500	NM_000487.6(ARSA):c.1276G>A (p.Glu426Lys)	ARSA (E340K +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 93115	NM_000487.6(ARSA):c.1108-2A>G	ARSA	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 3078	NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr)	ARSA (S297Y +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GPathogenic

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