CTSC[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 1049282	NC_000011.10:g.88291571AAAG[15]	CTSC	Microsatellite	not provided	GUncertain significance
Select item 1050659	NC_000011.10:g.88291571AAAG[8]	CTSC	Microsatellite	not provided	GUncertain significance
Select item 884105	NM_001814.6(CTSC):c.*414A>G	CTSC	Single nucleotide variant (3 prime UTR variant)	Haim-Munk syndrome +1 more	GUncertain significance
Select item 884106	NM_001814.6(CTSC):c.*381A>G	CTSC	Single nucleotide variant (3 prime UTR variant)	Haim-Munk syndrome +1 more	GUncertain significance
Select item 884107	NM_001814.6(CTSC):c.*350A>G	CTSC	Single nucleotide variant (3 prime UTR variant)	Haim-Munk syndrome +1 more	GUncertain significance
Select item 306415	NM_001814.6(CTSC):c.*279A>G	CTSC	Single nucleotide variant (3 prime UTR variant)	Haim-Munk syndrome +1 more	GBenign
Select item 306416	NM_001814.6(CTSC):c.*253T>C	CTSC	Single nucleotide variant (3 prime UTR variant)	Haim-Munk syndrome +1 more	GBenign
Select item 650803	NM_001814.6(CTSC):c.1392G>A (p.Ter464=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2934001	NM_001814.6(CTSC):c.1377A>G (p.Pro459=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 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 +4 more	GBenign/Likely benign
Select item 2936006	NM_001814.6(CTSC):c.1351G>C (p.Glu451Gln)	CTSC (E451Q)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 1486821	NM_001814.6(CTSC):c.1349T>C (p.Ile450Thr)	CTSC (I450T)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 851940	NM_001814.6(CTSC):c.1346C>T (p.Ala449Val)	CTSC (A449V)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 654717	NM_001814.6(CTSC):c.1345G>A (p.Ala449Thr)	CTSC (A449T)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 422938	NM_001814.6(CTSC):c.1344_1345del (p.Ala449fs)	CTSC (A449fs)	Microsatellite (frameshift variant)	Periodontitis, aggressive 1 +3 more	GUncertain significance
Select item 2192517	NM_001814.6(CTSC):c.1344T>C (p.Cys448=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2939922	NM_001814.6(CTSC):c.1341G>A (p.Glu447=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 1520488	NM_001814.6(CTSC):c.1335TGA[1] (p.Asp446del)	CTSC (D446del)	Microsatellite (inframe_deletion)	Papillon-Lefèvre syndrome +2 more	GUncertain significance
Select item 2074632	NM_001814.6(CTSC):c.1338T>C (p.Asp446=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 1311589	NM_001814.6(CTSC):c.1337A>C (p.Asp446Ala)	CTSC (D446A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2234458	NM_001814.6(CTSC):c.1325G>T (p.Arg442Leu)	CTSC (R442L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 647623	NM_001814.6(CTSC):c.1325G>A (p.Arg442His)	CTSC (R442H)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +3 more	GUncertain significance
Select item 880809	NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys)	CTSC (R442C)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +2 more	GUncertain significance
Select item 2944892	NM_001814.6(CTSC):c.1323C>T (p.Ile441=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2950245	NM_001814.6(CTSC):c.1320G>A (p.Arg440=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2169560	NM_001814.6(CTSC):c.1319G>A (p.Arg440Gln)	CTSC (R440Q)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 1446879	NM_001814.6(CTSC):c.1318C>T (p.Arg440Trp)	CTSC (R440W)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome +2 more	GUncertain significance
Select item 1051360	NM_001814.6(CTSC):c.1317C>G (p.Phe439Leu)	CTSC (F439L)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome +2 more	GUncertain significance
Select item 306417	NM_001814.6(CTSC):c.1314C>T (p.Tyr438=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GConflicting classifications of pathogenicity
Select item 643044	NM_001814.6(CTSC):c.1303G>A (p.Glu435Lys)	CTSC (E435K)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 432210	NM_001814.6(CTSC):c.1303G>T (p.Glu435Ter)	CTSC (E435*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 836452	NM_001814.6(CTSC):c.1294G>A (p.Gly432Ser)	CTSC (G432S)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome +2 more	GUncertain significance
Select item 757009	NM_001814.6(CTSC):c.1293C>T (p.Thr431=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +3 more	GBenign/Likely benign
Select item 2922217	NM_001814.6(CTSC):c.1276_1288A[5]CAGCTGGGCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAACCGCTGGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACAGCTGGG[1] (p.Trp429_Gly430insAlaAlaValArgProGlyArgGlnSerGluThrProSerGlnLysLysLysLysLysLysLysLysLysAsnArgTrpGlyXaaXaaXaaXaaLysLysLysLysLysLysLysAsnSerTrp)	CTSC	Insertion (inframe_insertion)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 534588	NM_001814.6(CTSC):c.1289G>A (p.Gly430Asp)	CTSC (G430D)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +2 more	GUncertain significance
Select item 7298	NM_001814.6(CTSC):c.1287G>C (p.Trp429Cys)	CTSC (W429C)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome	GPathogenic
Select item 2925487	NM_001814.6(CTSC):c.1286G>A (p.Trp429Ter)	CTSC (W429*)	Single nucleotide variant (nonsense)	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 2044690	NM_001814.6(CTSC):c.1284C>T (p.Ser428=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2577359	NM_001814.6(CTSC):c.1280A>C (p.Asn427Thr)	CTSC (N427T)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome	GLikely pathogenic
Select item 2932175	NM_001814.6(CTSC):c.1272T>C (p.Ile424=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2172910	NM_001814.6(CTSC):c.1272T>A (p.Ile424=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 1151858	NM_001814.6(CTSC):c.1257G>T (p.Gly419=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 1090805	NM_001814.6(CTSC):c.1257G>A (p.Gly419=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2268844	NM_001814.6(CTSC):c.1255G>A (p.Gly419Arg)	CTSC (G419R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1122129	NM_001814.6(CTSC):c.1254T>A (p.Ser418=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 3078751	NM_001814.6(CTSC):c.1249G>A (p.Ala417Thr)	CTSC (A417T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2953569	NM_001814.6(CTSC):c.1246_1247del (p.Ala417fs)	CTSC (A417fs)	Deletion (frameshift variant)	Haim-Munk syndrome +2 more	GPathogenic
Select item 1610116	NM_001814.6(CTSC):c.1242T>C (p.Thr414=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 1086018	NM_001814.6(CTSC):c.1239C>T (p.Gly413=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 7300	NM_001814.6(CTSC):c.1235A>G (p.Tyr412Cys)	CTSC (Y412C)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1	GPathogenic
Select item 2932905	NM_001814.6(CTSC):c.1227T>G (p.Leu409=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2004532	NM_001814.6(CTSC):c.1225C>G (p.Leu409Val)	CTSC (L409V)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +2 more	GUncertain significance
Select item 1962038	NM_001814.6(CTSC):c.1222C>A (p.Leu408Met)	CTSC (L408M)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +2 more	GUncertain significance
Select item 2945631	NM_001814.6(CTSC):c.1202_1214del (p.Glu401fs)	CTSC (E401fs)	Deletion (frameshift variant)	Haim-Munk syndrome +2 more	GPathogenic
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 634988	NM_001814.6(CTSC):c.[1211delA;190_191insA]	CTSC (N404fs +1 more)	Deletion (frameshift variant)	Papillon-Lefèvre syndrome	GPathogenic
Select item 647363	NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys)	CTSC (E401K)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +3 more	GUncertain significance
Select item 2052039	NM_001814.6(CTSC):c.1197C>T (p.Pro399=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2069332	NM_001814.6(CTSC):c.1194C>T (p.Asn398=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 640536	NM_001814.6(CTSC):c.1194C>A (p.Asn398Lys)	CTSC (N398K)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 306418	NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys)	CTSC (N398K)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 1488429	NM_001814.6(CTSC):c.1193A>G (p.Asn398Ser)	CTSC (N398S)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2039169	NM_001814.6(CTSC):c.1188T>G (p.Pro396=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 1652116	NM_001814.6(CTSC):c.1179A>G (p.Leu393=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 759813	NM_001814.6(CTSC):c.1176T>C (p.Gly392=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 258189	NM_001814.6(CTSC):c.1173T>G (p.Thr391=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +4 more	GBenign
Select item 834209	NM_001814.6(CTSC):c.1169A>G (p.His390Arg)	CTSC (H390R)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2111519	NM_001814.6(CTSC):c.1165C>T (p.His389Tyr)	CTSC (H389Y)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2923696	NM_001814.6(CTSC):c.1161C>T (p.Ile387=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 1363483	NM_001814.6(CTSC):c.1160T>C (p.Ile387Thr)	CTSC (I387T)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome +2 more	GUncertain significance
Select item 953826	NM_001814.6(CTSC):c.1159A>T (p.Ile387Phe)	CTSC (I387F)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +2 more	GUncertain significance
Select item 2941927	NM_001814.6(CTSC):c.1158G>T (p.Gly386=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2951009	NM_001814.6(CTSC):c.1149del (p.His382_Tyr383insTer)	CTSC	Deletion (nonsense)	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 1659780	NM_001814.6(CTSC):c.1149C>T (p.Tyr383=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 306419	NM_001814.6(CTSC):c.1146C>T (p.His382=)	CTSC	Single nucleotide variant (synonymous variant)	Papillon-Lefèvre syndrome +3 more	GBenign/Likely benign
Select item 623339	NM_001814.6(CTSC):c.1145A>G (p.His382Arg)	CTSC (H382R)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome	GUncertain significance
Select item 523939	NM_001814.6(CTSC):c.1141del (p.Leu381fs)	CTSC (L381fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 1635795	NM_001814.6(CTSC):c.1140C>T (p.Phe380=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2930762	NM_001814.6(CTSC):c.1125A>G (p.Glu375=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 306420	NM_001814.6(CTSC):c.1123G>A (p.Glu375Lys)	CTSC (E375K)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +1 more	GUncertain significance
Select item 2935808	NM_001814.6(CTSC):c.1122del (p.Phe374fs)	CTSC (F374fs)	Deletion (frameshift variant)	Haim-Munk syndrome +2 more	GPathogenic
Select item 1021975	NM_001814.6(CTSC):c.1121T>C (p.Phe374Ser)	CTSC (F374S)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2931179	NM_001814.6(CTSC):c.1119T>A (p.Ala373=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 2952256	NM_001814.6(CTSC):c.1104G>T (p.Gly368=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 989353	NM_001814.6(CTSC):c.1103G>A (p.Gly368Glu)	CTSC (G368E)	Single nucleotide variant (missense variant)	CTSC-related disorder	GUncertain significance
Select item 2289837	NM_001814.6(CTSC):c.1097A>G (p.His366Arg)	CTSC (H366R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 882454	NM_001814.6(CTSC):c.1097A>T (p.His366Leu)	CTSC (H366L)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +2 more	GUncertain significance
Select item 935708	NM_001814.6(CTSC):c.1096del (p.His366fs)	CTSC (H366fs)	Deletion (frameshift variant)	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 882455	NM_001814.6(CTSC):c.1094T>C (p.Val365Ala)	CTSC (V365A)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +1 more	GUncertain significance
Select item 1009025	NM_001814.6(CTSC):c.1084C>G (p.Leu362Val)	CTSC (L362V)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome +2 more	GUncertain significance
Select item 2127830	NM_001814.6(CTSC):c.1082A>C (p.Lys361Thr)	CTSC (K361T)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 1432372	NM_001814.6(CTSC):c.1067A>G (p.Asn356Ser)	CTSC (N356S)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2931749	NM_001814.6(CTSC):c.1062C>T (p.Gly354=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 139654	NM_001814.6(CTSC):c.1056del (p.Phe351_Tyr352insTer)	CTSC	Deletion (nonsense)	Papillon-Lefèvre syndrome	GPathogenic
Select item 1420729	NM_001814.6(CTSC):c.1055A>G (p.Tyr352Cys)	CTSC (Y352C)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome +2 more	GUncertain significance
Select item 1923549	NM_001814.6(CTSC):c.1053C>T (p.Phe351=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 7293	NM_001814.6(CTSC):c.1047del (p.Gly350fs)	CTSC (G350fs)	Deletion (frameshift variant)	Papillon-Lefèvre syndrome +2 more	GPathogenic

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