CTSV[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2355452	NM_001333.4(CTSV):c.958A>G (p.Asn320Asp)	CTSV (N320D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2270648	NM_001333.4(CTSV):c.771C>G (p.Phe257Leu)	CTSV (F257L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078794	NM_001333.4(CTSV):c.721G>T (p.Ala241Ser)	CTSV (A241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459169	NM_001333.4(CTSV):c.721G>A (p.Ala241Thr)	CTSV (A241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540080	NM_001333.4(CTSV):c.719T>C (p.Val240Ala)	CTSV (V240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247441	NM_001333.4(CTSV):c.688C>A (p.Pro230Thr)	CTSV (P230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511655	NM_001333.4(CTSV):c.661A>G (p.Asn221Asp)	CTSV (N221D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274433	NM_001333.4(CTSV):c.601T>G (p.Ser201Ala)	CTSV (S201A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792131	NM_001333.4(CTSV):c.537T>C (p.Asn179=)	CTSV	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2332386	NM_001333.4(CTSV):c.527A>G (p.Gln176Arg)	CTSV (Q176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489788	NM_001333.4(CTSV):c.512G>A (p.Arg171His)	CTSV (R171H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614237	NM_001333.4(CTSV):c.491A>G (p.Gln164Arg)	CTSV (Q164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270238	NM_001333.4(CTSV):c.443A>C (p.Glu148Ala)	CTSV (E148A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270241	NM_001333.4(CTSV):c.326C>T (p.Pro109Leu)	CTSV (P109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270239	NM_001333.4(CTSV):c.319C>A (p.Arg107Ser)	CTSV (R107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234414	NM_001333.4(CTSV):c.308G>C (p.Gly103Ala)	CTSV (G103A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588305	NM_001333.4(CTSV):c.301A>G (p.Arg101Gly)	CTSV (R101G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270240	NM_001333.4(CTSV):c.128A>T (p.Asn43Ile)	CTSV (N43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance