"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CTSD"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128872	NM_001909.5(CTSD):c.1215C>A (p.Gly405=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +4 more	GBenign
Select item 409623	NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr)	CTSD (R403T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 137044	NM_001909.5(CTSD):c.1077G>A (p.Ser359=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GBenign/Likely benign
Select item 128870	NM_001909.5(CTSD):c.1072-7G>A	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 10 +3 more	GBenign/Likely benign
Select item 258490	NM_001909.5(CTSD):c.828-17G>A	CTSD	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 137060	NM_001909.5(CTSD):c.639C>G (p.Pro213=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 10 +4 more	GConflicting classifications of pathogenicity
Select item 559016	NM_001909.5(CTSD):c.613C>T (p.Arg205Cys)	CTSD (R205C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 128876	NM_001909.5(CTSD):c.465T>C (p.Thr155=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +4 more	GBenign
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 137054	NM_001909.5(CTSD):c.353-17C>T	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +2 more	GBenign
Select item 205349	NM_001909.5(CTSD):c.241G>A (p.Gly81Arg)	CTSD (G81R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 128875	NM_001909.5(CTSD):c.231C>T (p.Ala77=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +4 more	GBenign
Select item 128873	NM_001909.5(CTSD):c.173C>T (p.Ala58Val)	CTSD, PRADX (A58V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 10 +4 more	GBenign/Likely benign