"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049	NM_000487.6(ARSA):c.*96A>G	ARSA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign; other
Select item 93120	NM_000487.6(ARSA):c.1493G>A (p.Arg498His)	ARSA (R498H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 3052	NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)	ARSA (P428L +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic
Select item 93118	NM_000487.6(ARSA):c.1210+20C>G	ARSA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 21184	NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)	ARSA (T393S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3050	NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)	ARSA (N352S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign; other
Select item 3070	NM_000487.6(ARSA):c.641C>T (p.Ala214Val)	ARSA (A214V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 93125	NM_000487.6(ARSA):c.585G>T (p.Trp195Cys)	ARSA (W195C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3057	NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)	ARSA (I181S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3051	NM_000487.6(ARSA):c.465+1G>A	ARSA	Single nucleotide variant (splice donor variant)	Metachromatic leukodystrophy +5 more	GPathogenic
Select item 3054	NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)	ARSA (S98F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 21186	NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)	ARSA (R86Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic