C0023522[trait identifier] AND "Institute Of Human Genetics Munich, Kl - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1489713	NM_000487.6(ARSA):c.937C>G (p.Arg313Gly)	ARSA (R313G +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GConflicting classifications of pathogenicity
Select item 68164	NM_000487.6(ARSA):c.929G>T (p.Gly310Val)	ARSA (G310V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GPathogenic
Select item 68159	NM_000487.6(ARSA):c.917C>T (p.Thr306Met)	ARSA (T306M +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GConflicting classifications of pathogenicity
Select item 3074	NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)	ARSA (G247R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 807542	NM_000487.6(ARSA):c.677C>A (p.Ala226Asp)	ARSA (A140D +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 3051	NM_000487.6(ARSA):c.465+1G>A	ARSA	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder +5 more	GPathogenic

ClinVar