C0023522[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 880	NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)	ARSB (C405Y)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 885	NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)	ARSB (Y210C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +2 more	GPathogenic
Select item 300514	NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)	PSAP (T394M +2 more)	Single nucleotide variant (missense variant)	Krabbe disease due to saposin A deficiency +5 more	GConflicting classifications of pathogenicity
Select item 2439207	NM_000487.6(ARSA):c.1400A>C (p.Gln467Pro)	ARSA (Q381P +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GUncertain significance
Select item 68119	NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro)	ARSA (L430P +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GConflicting classifications of pathogenicity
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 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 424522	NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer)	ARSA	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3082	NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)	ARSA (R372Q +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 3081	NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)	ARSA (R372W +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2439208	NM_000487.6(ARSA):c.1059C>T (p.Val353=)	ARSA	Single nucleotide variant (synonymous variant)	Metachromatic leukodystrophy	GUncertain significance
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 372303	NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)	ARSA (G327S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 434394	NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)	ARSA (R313* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 1323931	NM_000487.6(ARSA):c.842C>T (p.Thr281Ile)	ARSA (T195I +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	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 68148	NM_000487.6(ARSA):c.737G>A (p.Arg246His)	ARSA (R246H +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 3073	NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)	ARSA (R246C +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 854531	NM_000487.6(ARSA):c.592G>A (p.Gly198Arg)	ARSA (G112R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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 3051	NM_000487.6(ARSA):c.465+1G>A	ARSA	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder +5 more	GPathogenic
Select item 68132	NM_000487.6(ARSA):c.418C>G (p.His140Asp)	ARSA (H140D +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GPathogenic/Likely pathogenic
Select item 280950	NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)	ARSA (R116* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 556430	NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)	ARSA (P84L)	Single nucleotide variant (missense variant +1 more)	Metachromatic leukodystrophy	GConflicting classifications of pathogenicity
Select item 1323930	NM_000487.6(ARSA):c.244C>T (p.Arg82Trp)	ARSA (R82W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1323434	NM_000487.6(ARSA):c.208_209del (p.Leu70fs)	ARSA (L70fs)	Microsatellite (frameshift variant +1 more)	Metachromatic leukodystrophy	GPathogenic

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Items: 27