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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287566	NM_001909.5(CTSD):c.1162G>A (p.Val388Ile)	CTSD (V388I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 128877	NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)	CTSD (G282R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 more	GBenign/Likely benign
Select item 137038	NM_001909.5(CTSD):c.828-19A>C	CTSD	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1582729	NM_001909.5(CTSD):c.717G>A (p.Ala239=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 846960	NM_001909.5(CTSD):c.716C>T (p.Ala239Val)	CTSD (A239V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 205339	NM_001909.5(CTSD):c.630C>T (p.Asn210=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 10 +3 more	GBenign/Likely benign
Select item 457963	NM_001909.5(CTSD):c.566C>T (p.Thr189Ile)	CTSD (T189I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 137055	NM_001909.5(CTSD):c.353-12C>T	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +4 more	GBenign/Likely benign
Select item 128874	NM_001909.5(CTSD):c.189C>T (p.Thr63=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +4 more	GBenign/Likely benign
Select item 137047	NM_001909.5(CTSD):c.153C>T (p.Pro51=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +3 more	GBenign/Likely benign
Select item 205353	NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)	CTSD, LOC130005119 (P3L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance