"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137040	NM_001909.5(CTSD):c.912G>A (p.Pro304=)	CTSD	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 258490	NM_001909.5(CTSD):c.828-17G>A	CTSD	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 137060	NM_001909.5(CTSD):c.639C>G (p.Pro213=)	CTSD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 128876	NM_001909.5(CTSD):c.465T>C (p.Thr155=)	CTSD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign
Select item 1197562	NM_001909.5(CTSD):c.366G>A (p.Lys122=)	CTSD	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 128875	NM_001909.5(CTSD):c.231C>T (p.Ala77=)	CTSD	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 128874	NM_001909.5(CTSD):c.189C>T (p.Thr63=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 128873	NM_001909.5(CTSD):c.173C>T (p.Ala58Val)	CTSD, PRADX (A58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 205353	NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)	CTSD, LOC130005119 (P3L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity