"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CTSA"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 459631	NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del)	CTSA	Microsatellite (inframe_deletion +1 more)	Combined deficiency of sialidase AND beta galactosidase +1 more	GBenign/Likely benign
Select item 338524	NM_000308.4(CTSA):c.105C>T (p.Ile35=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 771936	NM_000308.4(CTSA):c.1287G>A (p.Lys429=)	CTSA	Single nucleotide variant (synonymous variant +1 more)	CTSA-related disorder +2 more	GBenign/Likely benign
Select item 896026	NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr)	CTSA (A448T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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