ClinVar for MedGen (Select 155529) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198735	NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs)	ARSA (A384fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 189073	NM_000487.6(ARSA):c.304del (p.Leu102fs)	ARSA (L16fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3093	NM_000487.6(ARSA):c.905G>T (p.Cys302Phe)	ARSA (C302F +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy, late infantile form	GPathogenic
Select item 3091	NM_000487.6(ARSA):c.763G>A (p.Glu255Lys)	ARSA (E255K +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 3060	NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)	ARSA (G311S +1 more)	Single nucleotide variant (missense variant)	Abnormality of the nervous system +2 more	GPathogenic/Likely pathogenic
Select item 3054	NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)	ARSA (S98F)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic

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