"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ARSA"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93120	NM_000487.6(ARSA):c.1493G>A (p.Arg498His)	ARSA (R498H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +2 more	GBenign/Likely benign
Select item 902514	NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser)	ARSA (G396S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GUncertain significance
Select item 198733	NM_000487.6(ARSA):c.1334G>T (p.Gly445Val)	ARSA (G445V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 93118	NM_000487.6(ARSA):c.1210+20C>G	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy +2 more	GBenign
Select item 1308665	NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly)	ARSA (T307G +1 more)	Indel (missense variant)	Metachromatic leukodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 21184	NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)	ARSA (T393S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +2 more	GBenign
Select item 93117	NM_000487.6(ARSA):c.1149C>T (p.Asp383=)	ARSA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 280986	NM_000487.6(ARSA):c.1002C>T (p.Ser334=)	ARSA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 68165	NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)	ARSA (R313Q +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1163694	NM_000487.6(ARSA):c.799A>G (p.Ile267Val)	ARSA (I181V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21187	NM_000487.6(ARSA):c.769G>C (p.Asp257His)	ARSA (D257H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1220285	NM_000487.6(ARSA):c.637G>A (p.Asp213Asn)	ARSA (D127N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 558942	NM_000487.6(ARSA):c.618C>T (p.Phe206=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GLikely benign
Select item 93125	NM_000487.6(ARSA):c.585G>T (p.Trp195Cys)	ARSA (W195C +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +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 3069	NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)	ARSA (D171N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 265461	NM_000487.6(ARSA):c.474C>A (p.Cys158Ter)	ARSA (C158* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 68137	NM_000487.6(ARSA):c.470C>T (p.Pro157Leu)	ARSA (P157L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 425284	NM_000487.6(ARSA):c.466-7G>C	ARSA	Single nucleotide variant (intron variant)	Metachromatic leukodystrophy +1 more	GConflicting classifications of pathogenicity
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 93123	NM_000487.6(ARSA):c.459C>T (p.His153=)	ARSA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1693781	NM_000487.6(ARSA):c.350G>A (p.Gly117Asp)	ARSA (G117D +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GUncertain significance
Select item 1686649	NM_000487.6(ARSA):c.248T>C (p.Leu83Pro)	ARSA (L83P)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 281161	NM_000487.6(ARSA):c.243C>T (p.Gly81=)	ARSA	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1404123	NM_000487.6(ARSA):c.131C>T (p.Pro44Leu)	ARSA (P44L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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Items: 26