"PreventionGenetics, part of Exact Sciences"[submitter] AND "CTSC"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 650803	NM_001814.6(CTSC):c.1392G>A (p.Ter464=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +3 more	GLikely benign
Select item 198470	NM_001814.6(CTSC):c.1357A>G (p.Ile453Val)	CTSC (I453V)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +3 more	GBenign/Likely benign
Select item 258189	NM_001814.6(CTSC):c.1173T>G (p.Thr391=)	CTSC	Single nucleotide variant (synonymous variant)	Papillon-Lefèvre syndrome +3 more	GBenign
Select item 306422	NM_001814.6(CTSC):c.948G>C (p.Leu316=)	CTSC	Single nucleotide variant (synonymous variant)	CTSC-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 258191	NM_001814.6(CTSC):c.757+37T>C	CTSC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 258190	NM_001814.6(CTSC):c.319-15C>T	CTSC	Single nucleotide variant (intron variant)	Papillon-Lefèvre syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3045523	NM_001814.6(CTSC):c.318+8563G>A	CTSC	Single nucleotide variant (3 prime UTR variant +1 more)	CTSC-related disorder	GBenign
Select item 3035650	NM_001814.6(CTSC):c.318+6733C>T	CTSC	Single nucleotide variant (intron variant)	CTSC-related disorder	GLikely benign
Select item 839668	NM_001814.6(CTSC):c.203T>G (p.Leu68Arg)	CTSC (L68R)	Single nucleotide variant (missense variant)	CTSC-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 2930306	NM_001814.6(CTSC):c.173-8_173-7del	CTSC	Deletion (intron variant)	Haim-Munk syndrome +3 more	GBenign/Likely benign
Select item 2922578	NM_001814.6(CTSC):c.21G>A (p.Leu7=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +3 more	GLikely benign
Select item 258188	NM_001814.6(CTSC):c.-18T>C	LOC130006572, CTSC	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign
Select item 306438	NM_001814.6(CTSC):c.-62C>T	CTSC	Single nucleotide variant (5 prime UTR variant)	CTSC-related disorder +2 more	GBenign/Likely benign
Select item 3049028	NM_001814.6(CTSC):c.-63C>A	CTSC	Single nucleotide variant (5 prime UTR variant)	CTSC-related disorder	GLikely benign