"3billion"[submitter] AND "ARSA"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705732	NM_000487.6(ARSA):c.1282_1283dup (p.Leu429fs)	ARSA (L343fs +1 more)	Duplication (frameshift variant)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 1320076	NM_000487.6(ARSA):c.1238A>G (p.Asp413Gly)	ARSA (D327G +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 1705736	NM_000487.6(ARSA):c.1214C>T (p.Ser405Phe)	ARSA (S319F +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 2429111	NM_000487.6(ARSA):c.938G>T (p.Arg313Leu)	ARSA (R227L +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 68152	NM_000487.6(ARSA):c.851A>G (p.Asn284Ser)	ARSA (N284S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 1430325	NM_000487.6(ARSA):c.605G>A (p.Arg202His)	ARSA (R116H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 973783	NM_000487.6(ARSA):c.582dup (p.Trp195fs)	ARSA (W109fs +1 more)	Duplication (frameshift variant)	Metachromatic leukodystrophy	GPathogenic
Select item 1066073	NM_000487.6(ARSA):c.338T>C (p.Leu113Pro)	ARSA (L113P +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GLikely pathogenic
Select item 2444219	NM_000487.6(ARSA):c.107G>A (p.Gly36Glu)	ARSA (G36E)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	GUncertain significance