"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CTSC"[g - ClinVar - NCBI

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	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 +2 more	GLikely benign
Select item 2934001	NM_001814.6(CTSC):c.1377A>G (p.Pro459=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 198470	NM_001814.6(CTSC):c.1357A>G (p.Ile453Val)	CTSC (I453V)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome +4 more	GBenign/Likely benign
Select item 2936006	NM_001814.6(CTSC):c.1351G>C (p.Glu451Gln)	CTSC (E451Q)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +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)	Periodontitis, aggressive 1 +2 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)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 1520488	NM_001814.6(CTSC):c.1335TGA[1] (p.Asp446del)	CTSC (D446del)	Microsatellite (inframe_deletion)	Haim-Munk 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 647623	NM_001814.6(CTSC):c.1325G>A (p.Arg442His)	CTSC (R442H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 880809	NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys)	CTSC (R442C)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2944892	NM_001814.6(CTSC):c.1323C>T (p.Ile441=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +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)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 1051360	NM_001814.6(CTSC):c.1317C>G (p.Phe439Leu)	CTSC (F439L)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +3 more	GUncertain significance
Select item 306417	NM_001814.6(CTSC):c.1314C>T (p.Tyr438=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +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)	Periodontitis, aggressive 1 +2 more	GUncertain significance
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)	Periodontitis, aggressive 1 +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 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 2932175	NM_001814.6(CTSC):c.1272T>C (p.Ile424=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +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)	Papillon-Lefèvre 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 1122129	NM_001814.6(CTSC):c.1254T>A (p.Ser418=)	CTSC	Single nucleotide variant (synonymous variant)	Papillon-Lefèvre syndrome +2 more	GLikely benign
Select item 2953569	NM_001814.6(CTSC):c.1246_1247del (p.Ala417fs)	CTSC (A417fs)	Deletion (frameshift variant)	Periodontitis, aggressive 1 +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 2932905	NM_001814.6(CTSC):c.1227T>G (p.Leu409=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +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)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2945631	NM_001814.6(CTSC):c.1202_1214del (p.Glu401fs)	CTSC (E401fs)	Deletion (frameshift variant)	Periodontitis, aggressive 1 +2 more	GPathogenic
Select item 647363	NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys)	CTSC (E401K)	Single nucleotide variant (missense variant)	Papillon-Lefèvre 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)	Haim-Munk syndrome +2 more	GLikely benign
Select item 640536	NM_001814.6(CTSC):c.1194C>A (p.Asn398Lys)	CTSC (N398K)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +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)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 258189	NM_001814.6(CTSC):c.1173T>G (p.Thr391=)	CTSC	Single nucleotide variant (synonymous variant)	not specified +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)	Periodontitis, aggressive 1 +2 more	GUncertain significance
Select item 953826	NM_001814.6(CTSC):c.1159A>T (p.Ile387Phe)	CTSC (I387F)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome +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)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 306419	NM_001814.6(CTSC):c.1146C>T (p.His382=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +3 more	GBenign/Likely benign
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)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2930762	NM_001814.6(CTSC):c.1125A>G (p.Glu375=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2935808	NM_001814.6(CTSC):c.1122del (p.Phe374fs)	CTSC (F374fs)	Deletion (frameshift variant)	Periodontitis, aggressive 1 +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)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2952256	NM_001814.6(CTSC):c.1104G>T (p.Gly368=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 935708	NM_001814.6(CTSC):c.1096del (p.His366fs)	CTSC (H366fs)	Deletion (frameshift variant)	Haim-Munk syndrome +2 more	GPathogenic
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)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 1420729	NM_001814.6(CTSC):c.1055A>G (p.Tyr352Cys)	CTSC (Y352C)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 1923549	NM_001814.6(CTSC):c.1053C>T (p.Phe351=)	CTSC	Single nucleotide variant (synonymous variant)	Papillon-Lefèvre syndrome +2 more	GLikely benign
Select item 7293	NM_001814.6(CTSC):c.1047del (p.Gly350fs)	CTSC (G350fs)	Deletion (frameshift variant)	Haim-Munk syndrome +2 more	GPathogenic
Select item 7301	NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys)	CTSC (Y347C)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GPathogenic
Select item 882456	NM_001814.6(CTSC):c.1038C>T (p.His346=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2085948	NM_001814.6(CTSC):c.1033T>C (p.Tyr345His)	CTSC (Y345H)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2105562	NM_001814.6(CTSC):c.1024T>G (p.Ser342Ala)	CTSC (S342A)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome +2 more	GUncertain significance
Select item 2935264	NM_001814.6(CTSC):c.1020T>C (p.Tyr340=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2943767	NM_001814.6(CTSC):c.1017T>C (p.Arg339=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2137217	NM_001814.6(CTSC):c.1015C>T (p.Arg339Cys)	CTSC (R339C)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +3 more	GPathogenic/Likely pathogenic
Select item 2950406	NM_001814.6(CTSC):c.1011C>T (p.Cys337=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 1504553	NM_001814.6(CTSC):c.1010G>A (p.Cys337Tyr)	CTSC (C337Y)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome +2 more	GUncertain significance
Select item 2096213	NM_001814.6(CTSC):c.1007A>C (p.Asp336Ala)	CTSC (D336A)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome +2 more	GUncertain significance
Select item 1354154	NM_001814.6(CTSC):c.1006G>A (p.Asp336Asn)	CTSC (D336N)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2080131	NM_001814.6(CTSC):c.998T>C (p.Met333Thr)	CTSC (M333T)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +2 more	GUncertain significance
Select item 2936273	NM_001814.6(CTSC):c.996A>G (p.Lys332=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2933695	NM_001814.6(CTSC):c.981T>A (p.Thr327=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 1655335	NM_001814.6(CTSC):c.981T>G (p.Thr327=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GLikely benign
Select item 1716071	NM_001814.6(CTSC):c.979A>C (p.Thr327Pro)	CTSC (T327P)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +2 more	GUncertain significance
Select item 2938591	NM_001814.6(CTSC):c.978C>T (p.Gly326=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 1459249	NM_001814.6(CTSC):c.975A>G (p.Thr325=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2949623	NM_001814.6(CTSC):c.969C>G (p.Pro323=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 306421	NM_001814.6(CTSC):c.954A>G (p.Glu318=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GConflicting classifications of pathogenicity
Select item 652504	NM_001814.6(CTSC):c.953A>G (p.Glu318Gly)	CTSC (E318G)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2010369	NM_001814.6(CTSC):c.952G>A (p.Glu318Lys)	CTSC (E318K)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 1494465	NM_001814.6(CTSC):c.950T>G (p.Val317Gly)	CTSC (V317G)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 2935660	NM_001814.6(CTSC):c.948G>A (p.Leu316=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 306422	NM_001814.6(CTSC):c.948G>C (p.Leu316=)	CTSC	Single nucleotide variant (synonymous variant)	Haim-Munk syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1395626	NM_001814.6(CTSC):c.946C>G (p.Leu316Val)	CTSC (L316V)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +2 more	GUncertain significance
Select item 2942572	NM_001814.6(CTSC):c.942T>C (p.Phe314=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 2923362	NM_001814.6(CTSC):c.936A>G (p.Gln312=)	CTSC	Single nucleotide variant (synonymous variant)	Periodontitis, aggressive 1 +2 more	GLikely benign

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