"Ambry Genetics"[submitter] AND "CTSA"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1399016	NM_000308.4(CTSA):c.-41C>T	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2489458	NM_000308.4(CTSA):c.-36G>A	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 624193	NM_000308.4(CTSA):c.-17G>A	CTSA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 3078741	NM_000308.4(CTSA):c.102G>C (p.Glu34Asp)	CTSA, LOC130065974 (E34D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265015	NM_000308.4(CTSA):c.137C>T (p.Ser46Phe)	CTSA (S46F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313036	NM_000308.4(CTSA):c.329T>G (p.Leu110Arg)	CTSA (L110R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 898717	NM_000308.4(CTSA):c.448G>A (p.Ala150Thr)	CTSA (A150T +1 more)	Single nucleotide variant (missense variant +1 more)	Combined deficiency of sialidase AND beta galactosidase +1 more	GUncertain significance
Select item 2548758	NM_000308.4(CTSA):c.463G>C (p.Glu155Gln)	CTSA (E138Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390746	NM_000308.4(CTSA):c.484C>G (p.Arg162Gly)	CTSA (R145G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335551	NM_000308.4(CTSA):c.496G>A (p.Glu166Lys)	CTSA (E149K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 338532	NM_000308.4(CTSA):c.769G>A (p.Val257Met)	CTSA (V257M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2517349	NM_000308.4(CTSA):c.794G>A (p.Arg265His)	CTSA (R265H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3078742	NM_000308.4(CTSA):c.854T>C (p.Val285Ala)	CTSA (V268A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512971	NM_000308.4(CTSA):c.910A>T (p.Ile304Phe)	CTSA (I287F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1405339	NM_000308.4(CTSA):c.920G>A (p.Arg307His)	CTSA (R307H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2600030	NM_000308.4(CTSA):c.941G>C (p.Trp314Ser)	CTSA (W314S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236616	NM_000308.4(CTSA):c.990del (p.Cys331fs)	CTSA (C314fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 529231	NM_000308.4(CTSA):c.1009G>C (p.Ala337Pro)	CTSA (A355P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2555241	NM_000308.4(CTSA):c.1044G>C (p.Lys348Asn)	CTSA (K331N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 999056	NM_000308.4(CTSA):c.1074A>T (p.Gln358His)	CTSA (Q358H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2281874	NM_000308.4(CTSA):c.1104A>C (p.Leu368Phe)	CTSA (L368F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281876	NM_000308.4(CTSA):c.1106A>C (p.Gln369Pro)	CTSA (Q369P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2139842	NM_000308.4(CTSA):c.1163A>G (p.Gln388Arg)	CTSA (Q371R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1961563	NM_000308.4(CTSA):c.1234G>A (p.Val412Met)	CTSA (V395M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1511079	NM_000308.4(CTSA):c.1270C>T (p.Arg424Trp)	CTSA (R424W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3078739	NM_000308.4(CTSA):c.1291G>A (p.Gly431Arg)	CTSA (G414R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3270203	NM_000308.4(CTSA):c.1297A>G (p.Ser433Gly)	CTSA (S416G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230138	NM_000308.4(CTSA):c.1299C>A (p.Ser433Arg)	CTSA (S433R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406959	NM_000308.4(CTSA):c.1300G>A (p.Gly434Arg)	CTSA (G434R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334485	NM_000308.4(CTSA):c.1358A>C (p.Lys453Thr)	CTSA (K436T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 937850	NM_000308.4(CTSA):c.1361G>T (p.Gly454Val)	CTSA (G454V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2382225	NM_000308.4(CTSA):c.1384G>A (p.Asp462Asn)	CTSA (D462N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 32