ARSD[gene] and "single gene"[properties] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2549566	NM_001669.4(ARSD):c.1735C>T (p.His579Tyr)	ARSD (H579Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787151	NM_001669.4(ARSD):c.1731C>T (p.Cys577=)	ARSD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2458188	NM_001669.4(ARSD):c.1616C>A (p.Ala539Asp)	ARSD (A539D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2458187	NM_001669.4(ARSD):c.1615G>A (p.Ala539Thr)	ARSD (A539T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2605118	NM_001669.4(ARSD):c.1598C>G (p.Ser533Cys)	ARSD (S533C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545249	NM_001669.4(ARSD):c.1582C>T (p.Pro528Ser)	ARSD (P528S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129882	NM_001669.4(ARSD):c.1513G>A (p.Gly505Arg)	ARSD (G505R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787152	NM_001669.4(ARSD):c.1498G>A (p.Val500Ile)	ARSD (V500I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2222274	NM_001669.4(ARSD):c.1468G>A (p.Glu490Lys)	ARSD (E490K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516746	NM_001669.4(ARSD):c.1429G>A (p.Val477Ile)	ARSD (V477I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129881	NM_001669.4(ARSD):c.1417G>C (p.Asp473His)	ARSD (D473H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129880	NM_001669.4(ARSD):c.1396G>A (p.Ala466Thr)	ARSD (A466T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787153	NM_001669.4(ARSD):c.1226G>A (p.Gly409Glu)	ARSD (G409E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3129879	NM_001669.4(ARSD):c.1180G>A (p.Gly394Arg)	ARSD (G394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060895	NM_001669.4(ARSD):c.1000+929T>C	ARSD	Single nucleotide variant (stop lost +1 more)	ARSD-related disorder	GLikely benign
Select item 3059864	NM_001669.4(ARSD):c.1000+901A>G	ARSD	Single nucleotide variant (synonymous variant +1 more)	ARSD-related disorder	GLikely benign
Select item 3059497	NM_001669.4(ARSD):c.1000+882A>G	ARSD (K367R)	Single nucleotide variant (missense variant +1 more)	ARSD-related disorder	GLikely benign
Select item 3059915	NM_001669.4(ARSD):c.1000+810T>C	ARSD (V343A)	Single nucleotide variant (missense variant +1 more)	ARSD-related disorder	GLikely benign
Select item 3060832	NM_001669.4(ARSD):c.992G>A (p.Trp331Ter)	ARSD (W331*)	Single nucleotide variant (nonsense)	ARSD-related disorder	GLikely benign
Select item 2543383	NM_001669.4(ARSD):c.991T>G (p.Trp331Gly)	ARSD (W331G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769484	NM_001669.4(ARSD):c.969T>G (p.Gly323=)	ARSD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769485	NM_001669.4(ARSD):c.966T>C (p.Tyr322=)	ARSD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3060487	NM_001669.4(ARSD):c.959G>A (p.Gly320Asp)	ARSD (G320D)	Single nucleotide variant (missense variant)	ARSD-related disorder	GLikely benign
Select item 3059011	NM_001669.4(ARSD):c.954G>T (p.Gln318His)	ARSD (Q318H)	Single nucleotide variant (missense variant)	ARSD-related disorder	GLikely benign
Select item 2463858	NM_001669.4(ARSD):c.935C>T (p.Ala312Val)	ARSD (A312V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283809	NM_001669.4(ARSD):c.914T>C (p.Ile305Thr)	ARSD (I305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320157	NM_001669.4(ARSD):c.892C>G (p.Leu298Val)	ARSD (L298V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361029	NM_001669.4(ARSD):c.877C>T (p.Pro293Ser)	ARSD (P293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060761	NM_001669.4(ARSD):c.845C>A (p.Ala282Asp)	ARSD (A282D)	Single nucleotide variant (missense variant)	ARSD-related disorder	GLikely benign
Select item 3129886	NM_001669.4(ARSD):c.773T>C (p.Leu258Pro)	ARSD (L258P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059264	NM_001669.4(ARSD):c.719T>G (p.Phe240Cys)	ARSD (F240C)	Single nucleotide variant (missense variant)	ARSD-related disorder	GLikely benign
Select item 3059681	NM_001669.4(ARSD):c.713G>T (p.Cys238Phe)	ARSD (C238F)	Single nucleotide variant (missense variant)	ARSD-related disorder	GLikely benign
Select item 3058914	NM_001669.4(ARSD):c.701_709del (p.Ala234_Val236del)	ARSD	Deletion (inframe deletion)	ARSD-related disorder	GLikely benign
Select item 1269324	NM_001669.4(ARSD):c.671C>G (p.Ser224Cys)	ARSD (S224C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3059571	NM_001669.4(ARSD):c.667T>A (p.Phe223Ile)	ARSD (F223I)	Single nucleotide variant (missense variant)	ARSD-related disorder	GLikely benign
Select item 3059319	NM_001669.4(ARSD):c.661G>A (p.Gly221Ser)	ARSD (G221S)	Single nucleotide variant (missense variant)	ARSD-related disorder	GLikely benign
Select item 2298169	NM_001669.4(ARSD):c.643G>C (p.Ala215Pro)	ARSD (A215P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338928	NM_001669.4(ARSD):c.615G>T (p.Gln205His)	ARSD (Q205H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521732	NM_001669.4(ARSD):c.611C>A (p.Thr204Asn)	ARSD (T204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623515	NM_001669.4(ARSD):c.593C>T (p.Ala198Val)	ARSD (A198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293420	NM_001669.4(ARSD):c.544A>C (p.Asn182His)	ARSD (N182H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059922	NM_001669.4(ARSD):c.527T>A (p.Met176Lys)	ARSD (M176K)	Single nucleotide variant (missense variant)	ARSD-related disorder	GLikely benign
Select item 3059035	NM_001669.4(ARSD):c.524G>A (p.Gly175Asp)	ARSD (G175D)	Single nucleotide variant (missense variant)	ARSD-related disorder	GLikely benign
Select item 3059005	NM_001669.4(ARSD):c.497T>A (p.Leu166Gln)	ARSD (L166Q)	Single nucleotide variant (missense variant)	ARSD-related disorder	GLikely benign
Select item 3059698	NM_001669.4(ARSD):c.470C>T (p.Ser157Phe)	ARSD (S157F)	Single nucleotide variant (missense variant)	ARSD-related disorder	GLikely benign
Select item 2317525	NM_001669.4(ARSD):c.442A>C (p.Lys148Gln)	ARSD (K148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320740	NM_001669.4(ARSD):c.325G>A (p.Ala109Thr)	ARSD (A109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361994	NM_001669.4(ARSD):c.251C>T (p.Ala84Val)	ARSD (A84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129883	NM_001669.4(ARSD):c.208G>A (p.Asp70Asn)	ARSD (D70N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602725	NM_001669.4(ARSD):c.200C>T (p.Pro67Leu)	ARSD (P67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269448	NM_001669.4(ARSD):c.178G>A (p.Gly60Arg)	ARSD (G60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620838	NM_001669.4(ARSD):c.142G>A (p.Ala48Thr)	ARSD (A48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232441	NM_001669.4(ARSD):c.89C>T (p.Thr30Met)	ARSD (T30M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347154	NM_001669.4(ARSD):c.62T>C (p.Leu21Pro)	ARSD (L21P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity

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Items: 54