Related gene-specific medical variations for Gene (Select 1075) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364474	NM_001814.6(CTSC):c.64G>C (p.Val22Leu)	CTSC, LOC130006572 (V22L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339183	NM_001814.6(CTSC):c.117G>T (p.Trp39Cys)	CTSC, LOC130006572 (W39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270205	NM_001814.6(CTSC):c.64G>T (p.Val22Leu)	CTSC, LOC130006572 (V22L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244634	NC_000011.9:g.(?_88027619)_(88030969_?)del	CTSC	Deletion	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 3244633	NC_000011.9:g.(?_88027174)_(88033833_?)del	CTSC	Deletion	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 3244632	NC_000011.9:g.(?_88045536)_(88070840_?)del	CTSC	Deletion	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 3244631	NC_000011.9:g.(?_88033678)_(88033833_?)del	CTSC	Deletion	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 3244630	NC_000011.9:g.(?_88045536)_(88045742_?)del	CTSC	Deletion	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 3244628	NC_000011.9:g.(?_88027174)_(88070840_?)del	CTSC	Deletion	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 3064404	NM_001814.6(CTSC):c.899G>A (p.Gly300Asp)	CTSC (G300D)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome	GUncertain significance
Select item 2950091	NM_001814.6(CTSC):c.63C>G (p.Ala21=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2947095	NM_001814.6(CTSC):c.42G>C (p.Leu14=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2943366	NM_001814.6(CTSC):c.18C>T (p.Ser6=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2940108	NM_001814.6(CTSC):c.15C>T (p.Pro5=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2939908	NM_001814.6(CTSC):c.172+13C>T	CTSC, LOC130006572	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2939070	NM_001814.6(CTSC):c.111C>T (p.Gly37=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2938292	NM_001814.6(CTSC):c.51C>T (p.Ser17=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2936576	NM_001814.6(CTSC):c.165G>A (p.Ser55=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2932216	NM_001814.6(CTSC):c.172+15C>T	CTSC, LOC130006572	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2928721	NM_001814.6(CTSC):c.168T>G (p.Val56=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2928077	NM_001814.6(CTSC):c.172+19A>C	CTSC, LOC130006572	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2925494	NM_001814.6(CTSC):c.21del (p.Leu7fs)	CTSC, LOC130006572 (L7fs)	Deletion (frameshift variant)	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 2925493	NM_001814.6(CTSC):c.90C>A (p.Cys30Ter)	CTSC, LOC130006572 (C30*)	Single nucleotide variant (nonsense)	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 2923270	NM_001814.6(CTSC):c.84C>G (p.Ala28=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2922770	NM_001814.6(CTSC):c.134C>T (p.Ser45Phe)	CTSC, LOC130006572 (S45F)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2922578	NM_001814.6(CTSC):c.21G>A (p.Leu7=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Papillon-Lefèvre syndrome +2 more	GLikely benign
Select item 2610220	NM_001814.6(CTSC):c.166G>A (p.Val56Ile)	CTSC, LOC130006572 (V56I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485167	NM_001814.6(CTSC):c.164C>T (p.Ser55Leu)	CTSC, LOC130006572 (S55L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440610	NM_001814.6(CTSC):c.319-3C>T	CTSC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2258688	NM_001814.6(CTSC):c.16T>G (p.Ser6Ala)	CTSC, LOC130006572 (S6A)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +3 more	GConflicting classifications of pathogenicity
Select item 2181078	NM_001814.6(CTSC):c.95A>G (p.Tyr32Cys)	CTSC, LOC130006572 (Y32C)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2147658	NM_001814.6(CTSC):c.172+10C>T	CTSC, LOC130006572	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2135915	NM_001814.6(CTSC):c.138C>T (p.Ser46=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Papillon-Lefèvre syndrome +2 more	GLikely benign
Select item 2133604	NM_001814.6(CTSC):c.87C>T (p.Asn29=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Papillon-Lefèvre syndrome +2 more	GLikely benign
Select item 2112167	NM_001814.6(CTSC):c.21G>C (p.Leu7Phe)	CTSC, LOC130006572 (L7F)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2090461	NM_001814.6(CTSC):c.172+8G>T	CTSC, LOC130006572	Single nucleotide variant (intron variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2066681	NM_001814.6(CTSC):c.94T>C (p.Tyr32His)	CTSC, LOC130006572 (Y32H)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2031715	NM_001814.6(CTSC):c.162C>T (p.Cys54=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Papillon-Lefèvre syndrome +2 more	GLikely benign
Select item 1996577	NM_001814.6(CTSC):c.60C>T (p.Gly20=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 1994118	NM_001814.6(CTSC):c.127G>T (p.Val43Leu)	CTSC, LOC130006572 (V43L)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 1935599	NM_001814.6(CTSC):c.63C>T (p.Ala21=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 1929428	NM_001814.6(CTSC):c.124del (p.Gln42fs)	CTSC, LOC130006572 (Q42fs)	Deletion (frameshift variant)	Haim-Munk syndrome +2 more	GPathogenic
Select item 1929245	NM_001814.6(CTSC):c.48C>T (p.Leu16=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 1661064	NM_001814.6(CTSC):c.22C>T (p.Leu8=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 1654683	NM_001814.6(CTSC):c.27C>T (p.Leu9=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 1611877	NM_001814.6(CTSC):c.144C>G (p.Ser48=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 1588615	NM_001814.6(CTSC):c.147G>A (p.Gln49=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 1506896	NM_001814.6(CTSC):c.140G>T (p.Gly47Val)	CTSC, LOC130006572 (G47V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1500336	NM_001814.6(CTSC):c.4G>C (p.Gly2Arg)	CTSC, LOC130006572 (G2R)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 1400344	NM_001814.6(CTSC):c.21G>T (p.Leu7Phe)	CTSC, LOC130006572 (L7F)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome +2 more	GUncertain significance
Select item 1353074	NM_001814.6(CTSC):c.53G>A (p.Gly18Asp)	CTSC, LOC130006572 (G18D)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 1153399	NM_001814.6(CTSC):c.40C>T (p.Leu14=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 1075099	NM_001814.6(CTSC):c.-55C>A	CTSC, LOC130006572	Single nucleotide variant (5 prime UTR variant)	Papillon-Lefèvre syndrome +2 more	GPathogenic
Select item 1064211	NM_001814.6(CTSC):c.43C>T (p.Leu15Phe)	CTSC, LOC130006572 (L15F)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 883296	NM_001814.6(CTSC):c.12G>A (p.Gly4=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GConflicting classifications of pathogenicity
Select item 883295	NM_001814.6(CTSC):c.81T>G (p.Pro27=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GConflicting classifications of pathogenicity
Select item 882292	NM_001814.6(CTSC):c.-55C>T	CTSC, LOC130006572	Single nucleotide variant (5 prime UTR variant)	Papillon-Lefèvre syndrome	GUncertain significance
Select item 882291	NM_001814.6(CTSC):c.-49C>T	CTSC, LOC130006572	Single nucleotide variant (5 prime UTR variant)	Papillon-Lefèvre syndrome +1 more	GUncertain significance
Select item 737682	NM_001814.6(CTSC):c.90C>T (p.Cys30=)	CTSC, LOC130006572	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 687705	GRCh37/hg19 11q14.2(chr11:88023054-88100191)x1	CTSC	Copy number loss	not provided	GPathogenic
Select item 659313	NM_001814.6(CTSC):c.37C>A (p.Leu13Met)	CTSC, LOC130006572 (L13M)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome +2 more	GUncertain significance
Select item 635093	NM_001814.6(CTSC):c.757+1G>A	CTSC	Single nucleotide variant (splice donor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 635092	NM_001814.6(CTSC):c.190_191insA (p.Val64fs)	CTSC (V64fs)	Insertion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 635091	NM_001814.6(CTSC):c.716A>G (p.Asn239Ser)	CTSC (N239S)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 635090	NM_001814.6(CTSC):c.1211del (p.Asn404fs)	CTSC (N404fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 534587	NM_001814.6(CTSC):c.71G>A (p.Cys24Tyr)	CTSC, LOC130006572 (C24Y)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +2 more	GUncertain significance
Select item 306437	NM_001814.6(CTSC):c.-48G>A	CTSC, LOC130006572	Single nucleotide variant (5 prime UTR variant)	Haim-Munk syndrome +1 more	GUncertain significance
Select item 306436	NM_001814.6(CTSC):c.-45C>G	CTSC, LOC130006572	Single nucleotide variant (5 prime UTR variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 306435	NM_001814.6(CTSC):c.-23C>G	CTSC, LOC130006572	Single nucleotide variant (5 prime UTR variant)	Haim-Munk syndrome +1 more	GUncertain significance
Select item 306434	NM_001814.6(CTSC):c.-7C>A	CTSC, LOC130006572	Single nucleotide variant (5 prime UTR variant)	Haim-Munk syndrome +1 more	GUncertain significance
Select item 306433	NM_001814.6(CTSC):c.1A>G (p.Met1Val)	CTSC, LOC130006572 (M1V)	Single nucleotide variant (missense variant +1 more)	CTSC-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 306432	NM_001814.6(CTSC):c.29C>T (p.Ala10Val)	CTSC, LOC130006572 (A10V)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 258188	NM_001814.6(CTSC):c.-18T>C	CTSC, LOC130006572	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign
Select item 139655	NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)	CTSC, LOC130006572 (Y32*)	Single nucleotide variant (nonsense)	Papillon-Lefèvre syndrome +2 more	GPathogenic
Select item 7296	NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)	CTSC, LOC130006572 (W39S)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome +2 more	GLikely pathogenic

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Items: 75