"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ARSA"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 971321	NM_000487.6(ARSA):c.1522C>T (p.His508Tyr)	ARSA (H422Y +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 855587	NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)	ARSA (R412L +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 198734	NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)	ARSA (E483K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 189170	NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del)	ARSA	Deletion (inframe_deletion)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
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 556001	NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)	ARSA (E331K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 495883	NM_000487.6(ARSA):c.960G>A (p.Trp320Ter)	ARSA (W320* +1 more)	Single nucleotide variant (nonsense)	Metachromatic leukodystrophy	GPathogenic
Select item 568168	NM_000487.6(ARSA):c.902G>A (p.Arg301Gln)	ARSA (R301Q +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
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 3077	NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)	ARSA (R290C +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 3075	NM_000487.6(ARSA):c.827C>T (p.Thr276Met)	ARSA (T276M +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 903370	NM_000487.6(ARSA):c.728G>A (p.Arg243His)	ARSA (R243H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 870756	NM_000487.6(ARSA):c.684+1G>A	ARSA	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 996131	NM_000487.6(ARSA):c.607T>C (p.Tyr203His)	ARSA (Y117H +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 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 556103	NM_000487.6(ARSA):c.514G>A (p.Gly172Ser)	ARSA (G172S +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
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 3066	NM_000487.6(ARSA):c.467G>A (p.Gly156Asp)	ARSA (G156D +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
Select item 370305	NM_000487.6(ARSA):c.418dup (p.His140fs)	ARSA (H140fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 374717	NM_000487.6(ARSA):c.325G>A (p.Val109Met)	ARSA (V109M +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +2 more	GUncertain significance
Select item 965478	NM_000487.6(ARSA):c.296G>C (p.Arg99Pro)	ARSA (R99P +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
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)	Metachromatic leukodystrophy +1 more	GPathogenic
Select item 633043	NM_000487.6(ARSA):c.244del (p.Arg82fs)	ARSA (R82fs)	Deletion (frameshift variant +1 more)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 558028	NM_000487.6(ARSA):c.225-2A>G	ARSA	Single nucleotide variant (splice acceptor variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 555003	NM_000487.6(ARSA):c.109_116del (p.Asp37fs)	ARSA (D37fs)	Deletion (frameshift variant +1 more)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1128322	NM_000487.6(ARSA):c.12G>A (p.Gly4=)	ARSA	Single nucleotide variant (synonymous variant +1 more)	Metachromatic leukodystrophy	GLikely benign
Select item 342242	NM_000487.6(ARSA):c.-88G>A	ARSA	Single nucleotide variant (5 prime UTR variant +1 more)	Metachromatic leukodystrophy	GUncertain significance

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Items: 33