"Baylor Genetics"[submitter] AND "ARSA"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028784	NM_000487.6(ARSA):c.1523A>G (p.His508Arg)	ARSA (H422R +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 3052	NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)	ARSA (P428L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 68115	NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys)	ARSA (R386C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 3080	NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)	ARSA (D337V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1028785	NM_000487.6(ARSA):c.979+8C>T	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy	GConflicting classifications of pathogenicity
Select item 68166	NM_000487.6(ARSA):c.942G>T (p.Glu314Asp)	ARSA (E314D +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GConflicting classifications of pathogenicity
Select item 558645	NM_000487.6(ARSA):c.877C>T (p.Arg293Ter)	ARSA (R293* +1 more)	Single nucleotide variant (nonsense)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 68153	NM_000487.6(ARSA):c.869G>A (p.Arg290His)	ARSA (R290H +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)	Neurodevelopmental disorder +5 more	GPathogenic
Select item 21186	NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)	ARSA (R86Q)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy +1 more	GPathogenic
Select item 1031068	NM_000487.6(ARSA):c.-16C>G	ARSA	Single nucleotide variant (5 prime UTR variant +1 more)	Metachromatic leukodystrophy	GUncertain significance
Select item 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 625663	GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264)	ACR, ADM2 +34 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic