Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)	SNV Germline	Chr11:88309176	Pathogenic	Papillon-Lefèvre syndrome Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Single Submitter	CA118672	rs_104894206	2 SubmittersRCV000007712 RCV001040162
NM_001814.6(CTSC):c.755A>T (p.Gln252Leu)	SNV Germline	Chr11:88300532	Pathogenic/Likely pathogenic	Papillon-Lefèvre syndrome Condition: not provided Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Multiple Submitters No Conflicts	CA118676	rs_104894207	4 SubmittersRCV000007714 RCV000489891 RCV005222671
NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)	SNV Germline	Chr11:88296166	Pathogenic	Papillon-Lefèvre syndrome Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Single Submitter	CA118679	rs_104894209	2 SubmittersRCV000007715 RCV003764534
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg)	SNV Germline	Chr11:88296165	Conflicting classifications of pathogenicity	Haim-Munk syndrome Condition: not provided Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Conflicting Classifications	CA118683	rs_104894208	4 SubmittersRCV000007717 RCV000724159 RCV003764535
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)	SNV Germline	Chr11:88337557	Likely pathogenic	Papillon-Lefèvre syndrome CTSC-related disorder Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Single Submitter	CA118686	rs_104894210	3 SubmittersRCV000007719 RCV004758590 RCV003764536
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)	SNV Germline	Chr11:88294497	Pathogenic/Likely pathogenic	Papillon-Lefèvre syndrome Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Multiple Submitters No Conflicts	CA118689	rs_104894214	3 SubmittersRCV000007720 RCV001204386
NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys)	SNV Germline	Chr11:88294358	Pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Single Submitter	CA118701	rs_104894211	2 SubmittersRCV000007724 RCV000128617 RCV002512877
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)	SNV Germline	Chr11:88337577	Pathogenic	Papillon-Lefèvre syndrome Haim-Munk syndrome Papillon-Lefèvre syndrome Periodontitis, aggressive 1	Criteria Provided Multiple Submitters No Conflicts	CA163389	rs_587777533	3 SubmittersRCV000128619 RCV001043532
NM_001814.6(CTSC):c.815G>A (p.Arg272His)	SNV Germline	Chr11:88296207	Pathogenic/Likely pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome Papillon-Lefèvre syndrome Periodontitis, aggressive 1	Criteria Provided Multiple Submitters No Conflicts	CA163392	rs_587777534	3 SubmittersRCV000128620 RCV000779084 RCV002514705
NM_001814.6(CTSC):c.319-15C>T	SNV Germline	Chr11:88312569	Conflicting classifications of pathogenicity	not specified Haim-Munk syndrome Papillon-Lefèvre syndrome Haim-Munk syndrome Periodontitis, aggressive 1 Papillon-Lefèvre syndrome	Criteria Provided Conflicting Classifications	CA6219982	rs_45539936	3 SubmittersRCV000244540 RCV001112226 RCV001112225 RCV001523656
NM_001814.6(CTSC):c.954A>G (p.Glu318=)	SNV Germline	Chr11:88294444	Conflicting classifications of pathogenicity	Haim-Munk syndrome Papillon-Lefèvre syndrome Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Conflicting Classifications	CA10631712	rs_886048739	2 SubmittersRCV000286007 RCV000380593 RCV001466025
NM_001814.6(CTSC):c.948G>C (p.Leu316=)	SNV Germline	Chr11:88294450	Conflicting classifications of pathogenicity	Haim-Munk syndrome Papillon-Lefèvre syndrome Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome CTSC-related disorder	Criteria Provided Conflicting Classifications	CA6219798	rs_145373075	3 SubmittersRCV000317693 RCV000372393 RCV000901089 RCV004021524
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys)	SNV Germline	Chr11:88334992	Conflicting classifications of pathogenicity	Papillon-Lefèvre syndrome Haim-Munk syndrome Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Conflicting Classifications	CA6220085	rs_142378484	3 SubmittersRCV000324537 RCV000353587 RCV001454256
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=)	SNV Germline	Chr11:88294084	Conflicting classifications of pathogenicity	Haim-Munk syndrome Papillon-Lefèvre syndrome Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Conflicting Classifications	CA6219732	rs_143736590	2 SubmittersRCV000313037 RCV000367712 RCV000973899
NM_001814.6(CTSC):c.729C>T (p.Ile243=)	SNV Germline	Chr11:88300558	Conflicting classifications of pathogenicity	Haim-Munk syndrome Papillon-Lefèvre syndrome Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Conflicting Classifications	CA6219880	rs_766063253	2 SubmittersRCV000306379 RCV000365848 RCV002522215
NM_001814.6(CTSC):c.1A>G (p.Met1Val)	SNV Germline	Chr11:88337672	Conflicting classifications of pathogenicity	Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Conflicting Classifications	CA10639648	rs_886048742	2 SubmittersRCV002494957
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro)	SNV Germline	Chr11:88296207	Pathogenic/Likely pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Papillon-Lefèvre syndrome Haim-Munk syndrome Periodontitis, aggressive 1	Criteria Provided Multiple Submitters No Conflicts	CA6219835	rs_587777534	4 SubmittersRCV000661991 RCV001332042 RCV003767920
NM_001814.6(CTSC):c.910T>A (p.Tyr304Asn)	SNV Germline	Chr11:88294488	Likely pathogenic	Haim-Munk syndrome Periodontitis, aggressive 1 Papillon-Lefèvre syndrome	Criteria Provided Single Submitter	CA382022300	rs_201990020	1 SubmittersRCV000807445
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln)	SNV Germline	Chr11:88312478	Conflicting classifications of pathogenicity	Haim-Munk syndrome Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Conflicting Classifications	CA6219965	rs_575727793	2 SubmittersRCV000800343 RCV001112221 RCV001112222
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg)	SNV Germline	Chr11:88335052	Pathogenic/Likely pathogenic	Haim-Munk syndrome Periodontitis, aggressive 1 Papillon-Lefèvre syndrome CTSC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA225446938	rs_199474831	4 SubmittersRCV001041477 RCV004031252
NM_001814.6(CTSC):c.1038C>T (p.His346=)	SNV Germline	Chr11:88294360	Conflicting classifications of pathogenicity	Papillon-Lefèvre syndrome Haim-Munk syndrome Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome	Criteria Provided Conflicting Classifications	CA476145402	rs_1355697311	2 SubmittersRCV001112148 RCV001115099 RCV003769129
NM_001814.6(CTSC):c.81T>G (p.Pro27=)	SNV Germline	Chr11:88337592	Conflicting classifications of pathogenicity	Papillon-Lefèvre syndrome Haim-Munk syndrome Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome	Criteria Provided Conflicting Classifications	CA475931268	rs_1370319468	2 SubmittersRCV001113580 RCV001113581 RCV001456673
NM_001814.6(CTSC):c.12G>A (p.Gly4=)	SNV Germline	Chr11:88337661	Conflicting classifications of pathogenicity	Papillon-Lefèvre syndrome Haim-Munk syndrome Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome	Criteria Provided Conflicting Classifications	CA6220162	rs_755959403	2 SubmittersRCV001113582 RCV001113583 RCV001441438
NM_001814.6(CTSC):c.642-15A>G	SNV Germline	Chr11:88300660	Conflicting classifications of pathogenicity	Haim-Munk syndrome Papillon-Lefèvre syndrome Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Conflicting Classifications	CA6219896	rs_748280232	2 SubmittersRCV001109464 RCV001109465 RCV002069777
NM_001814.6(CTSC):c.629G>A (p.Arg210Gln)	SNV Germline	Chr11:88309175	Conflicting classifications of pathogenicity	Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6219912	rs_370862961	2 SubmittersRCV001370173 RCV004611794
NM_001814.6(CTSC):c.-55C>A	SNV Germline	Chr11:88337727	Pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Multiple Submitters No Conflicts	CA225449786	rs_766114323	2 SubmittersRCV001388606 RCV003323875
NM_001814.6(CTSC):c.268C>T (p.Gln90Ter)	SNV Germline	Chr11:88334987	Pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome	Criteria Provided Single Submitter	CA382029808	rs_1408095438	1 SubmittersRCV001921432
NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter)	SNV Germline	Chr11:88309234	Pathogenic	Haim-Munk syndrome Periodontitis, aggressive 1 Papillon-Lefèvre syndrome	Criteria Provided Single Submitter	CA382025173	rs_2496556090	1 SubmittersRCV001915195
NM_001814.6(CTSC):c.754C>T (p.Gln252Ter)	SNV Germline	Chr11:88300533	Pathogenic	Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Single Submitter	CA382023550	rs_2134770866	1 SubmittersRCV001970043
NM_001814.6(CTSC):c.1015C>T (p.Arg339Cys)	SNV Germline	Chr11:88294383	Pathogenic/Likely pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome See cases	Criteria Provided Multiple Submitters No Conflicts	CA225417328	rs_1044703733	2 SubmittersRCV003037422 RCV004798020
NM_001814.6(CTSC):c.587T>C (p.Leu196Pro)	SNV Germline	Chr11:88309217	Pathogenic/Likely pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6219916	rs_34876841	3 SubmittersRCV003058346 RCV005239615
NM_001814.6(CTSC):c.319-1G>A	SNV Germline	Chr11:88312555	Pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6219979	rs_754779432	2 SubmittersRCV003058347 RCV003238912
NM_001814.6(CTSC):c.401G>A (p.Trp134Ter)	SNV Germline	Chr11:88312472	Pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome	Criteria Provided Single Submitter	CA382026612	rs_1937786065	1 SubmittersRCV003079128
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)	SNV Germline	Chr11:88300539	Pathogenic/Likely pathogenic	Haim-Munk syndrome Papillon-Lefèvre syndrome Periodontitis, aggressive 1 Papillon-Lefèvre syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382023577	rs_1409888746	3 SubmittersRCV002643881 RCV003331441
NM_001814.6(CTSC):c.641+1G>A	SNV Germline	Chr11:88309162	Likely pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome	Criteria Provided Single Submitter	CA382024893	rs_1434894149	1 SubmittersRCV002780021
NM_001814.6(CTSC):c.917T>C (p.Ile306Thr)	SNV Germline	Chr11:88294481	Conflicting classifications of pathogenicity	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA382022285	rs_1386551513	2 SubmittersRCV002766798 RCV002795063
NM_001814.6(CTSC):c.889+1G>A	SNV Germline	Chr11:88296132	Pathogenic	Haim-Munk syndrome Periodontitis, aggressive 1 Papillon-Lefèvre syndrome	Criteria Provided Single Submitter	CA382022351	rs_2496532669	1 SubmittersRCV002814679
NM_001814.6(CTSC):c.1033T>C (p.Tyr345His)	SNV Germline	Chr11:88294365	Conflicting classifications of pathogenicity	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome See cases	Criteria Provided Conflicting Classifications	CA382022024	rs_1422115423	2 SubmittersRCV003005365 RCV004798016
NM_001814.6(CTSC):c.16T>G (p.Ser6Ala)	SNV Germline	Chr11:88337657	Conflicting classifications of pathogenicity	Inborn genetic diseases Haim-Munk syndrome Periodontitis, aggressive 1 Papillon-Lefèvre syndrome	Criteria Provided Conflicting Classifications	CA6220161	rs_750157767	2 SubmittersRCV002772894 RCV003777756
NM_001814.6(CTSC):c.1280A>C (p.Asn427Thr)	SNV Germline	Chr11:88294118	Likely pathogenic	Papillon-Lefèvre syndrome Haim-Munk syndrome Periodontitis, aggressive 1 Papillon-Lefèvre syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382021481	rs_1260896676	2 SubmittersRCV003324436 RCV005003055
NM_001814.6(CTSC):c.173-2A>C	SNV Germline	Chr11:88335084	Likely pathogenic	Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Single Submitter	CA382030119	rs_866021264	1 SubmittersRCV003797919
NM_001814.6(CTSC):c.201C>A (p.Tyr67Ter)	SNV Germline	Chr11:88335054	Pathogenic	Papillon-Lefèvre syndrome Haim-Munk syndrome Periodontitis, aggressive 1	Criteria Provided Single Submitter	CA382030054	rs_2496620499	1 SubmittersRCV003782822
NM_001814.6(CTSC):c.757+1G>T	SNV Germline	Chr11:88300529	Likely pathogenic	Papillon-Lefèvre syndrome Haim-Munk syndrome Periodontitis, aggressive 1	Criteria Provided Multiple Submitters No Conflicts	CA382023534	rs_767396820	2 SubmittersRCV003782911
NM_001814.6(CTSC):c.1286G>A (p.Trp429Ter)	SNV Germline	Chr11:88294112	Pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome	Criteria Provided Single Submitter	CA225416951	rs_887942959	1 SubmittersRCV003783581
NM_001814.6(CTSC):c.555G>A (p.Trp185Ter)	SNV Germline	Chr11:88309249	Pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome	Criteria Provided Single Submitter	CA382025223	rs_2496556141	1 SubmittersRCV003783584
NM_001814.6(CTSC):c.415G>A (p.Gly139Arg)	SNV Germline	Chr11:88312458	Pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6219961	rs_749103588	2 SubmittersRCV003783586
NM_001814.6(CTSC):c.90C>A (p.Cys30Ter)	SNV Germline	Chr11:88337583	Pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome	Criteria Provided Single Submitter	CA382030733	rs_202160994	1 SubmittersRCV003783587
NM_001814.6(CTSC):c.328G>T (p.Glu110Ter)	SNV Germline	Chr11:88312545	Pathogenic	Papillon-Lefèvre syndrome Haim-Munk syndrome Periodontitis, aggressive 1	Criteria Provided Single Submitter	CA382027009	rs_2496562331	1 SubmittersRCV003787847
NM_001814.6(CTSC):c.415G>T (p.Gly139Ter)	SNV Germline	Chr11:88312458	Pathogenic	Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Single Submitter	CA382026556	rs_749103588	1 SubmittersRCV003786609
NM_001814.6(CTSC):c.877C>T (p.Gln293Ter)	SNV Germline	Chr11:88296145	Pathogenic	Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Single Submitter	CA382022383	rs_2496532700	1 SubmittersRCV003806200
NM_001814.6(CTSC):c.642-2A>G	SNV Germline	Chr11:88300647	Likely pathogenic	Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Single Submitter	CA382024007	rs_2496540747	1 SubmittersRCV003805794
NM_001814.6(CTSC):c.485+1G>A	SNV Germline	Chr11:88312387	Likely pathogenic	Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Single Submitter	CA382026255	rs_2496561722	1 SubmittersRCV003802680
NM_001814.6(CTSC):c.478C>T (p.Gln160Ter)	SNV Germline	Chr11:88312395	Pathogenic	Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Single Submitter	CA382026290	rs_1171989505	1 SubmittersRCV003808538
NM_001814.6(CTSC):c.351C>G (p.Tyr117Ter)	SNV Germline	Chr11:88312522	Pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome	Criteria Provided Single Submitter	CA382026859	rs_1343944955	1 SubmittersRCV003802326
NM_001814.6(CTSC):c.415G>C (p.Gly139Arg)	SNV Germline	Chr11:88312458	Pathogenic	Haim-Munk syndrome Papillon-Lefèvre syndrome Periodontitis, aggressive 1	Criteria Provided Single Submitter	CA382026557	rs_749103588	1 SubmittersRCV003813426
NM_001814.6(CTSC):c.303G>A (p.Trp101Ter)	SNV Germline	Chr11:88334952	Pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome	Criteria Provided Single Submitter	CA382029645	rs_2496619764	1 SubmittersRCV003807446
NM_001814.6(CTSC):c.930C>G (p.Tyr310Ter)	SNV Germline	Chr11:88294468	Pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome	Criteria Provided Single Submitter	CA382022256	rs_148742372	1 SubmittersRCV003807597
NM_001814.6(CTSC):c.814C>A (p.Arg272Ser)	SNV Germline	Chr11:88296208	Conflicting classifications of pathogenicity	not specified Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome	Criteria Provided Conflicting Classifications		rs_751326698	2 SubmittersRCV004586172 RCV005006448
NM_001814.6(CTSC):c.745G>T (p.Val249Phe)	SNV Germline	Chr11:88300542	Likely pathogenic	Haim-Munk syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004790141
NM_001814.6(CTSC):c.1339G>T (p.Glu447Ter)	SNV Germline	Chr11:88294059	Likely pathogenic	Periodontitis, aggressive 1 Haim-Munk syndrome Papillon-Lefèvre syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005004735
NM_001814.6(CTSC):c.711G>A (p.Trp237Ter)	SNV Germline	Chr11:88300576	Pathogenic	Periodontitis, aggressive 1 Papillon-Lefèvre syndrome Haim-Munk syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005215583

NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)

SNV
Germline

Chr11:88309176

Pathogenic

Papillon-Lefèvre syndrome
Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Single Submitter

CA118672

rs_104894206

2 SubmittersRCV000007712 RCV001040162

NM_001814.6(CTSC):c.755A>T (p.Gln252Leu)

SNV
Germline

Chr11:88300532

Pathogenic/Likely pathogenic

Papillon-Lefèvre syndrome
Condition: not provided
Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA118676

rs_104894207

4 SubmittersRCV000007714 RCV000489891 RCV005222671

NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)

SNV
Germline

Chr11:88296166

Pathogenic

Papillon-Lefèvre syndrome
Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Single Submitter

CA118679

rs_104894209

2 SubmittersRCV000007715 RCV003764534

NM_001814.6(CTSC):c.857A>G (p.Gln286Arg)

SNV
Germline

Chr11:88296165

Conflicting classifications of pathogenicity

Haim-Munk syndrome
Condition: not provided
Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Conflicting Classifications

CA118683

rs_104894208

4 SubmittersRCV000007717 RCV000724159 RCV003764535

NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)

SNV
Germline

Chr11:88337557

Likely pathogenic

Papillon-Lefèvre syndrome
CTSC-related disorder
Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Single Submitter

CA118686

rs_104894210

3 SubmittersRCV000007719 RCV004758590 RCV003764536

NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)

SNV
Germline

Chr11:88294497

Pathogenic/Likely pathogenic

Papillon-Lefèvre syndrome
Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA118689

rs_104894214

3 SubmittersRCV000007720 RCV001204386

NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys)

SNV
Germline

Chr11:88294358

Pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Single Submitter

CA118701

rs_104894211

2 SubmittersRCV000007724 RCV000128617 RCV002512877

NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)

SNV
Germline

Chr11:88337577

Pathogenic

Papillon-Lefèvre syndrome
Haim-Munk syndrome
Papillon-Lefèvre syndrome
Periodontitis, aggressive 1

Criteria Provided
Multiple Submitters
No Conflicts

CA163389

rs_587777533

3 SubmittersRCV000128619 RCV001043532

NM_001814.6(CTSC):c.815G>A (p.Arg272His)

SNV
Germline

Chr11:88296207

Pathogenic/Likely pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Papillon-Lefèvre syndrome
Periodontitis, aggressive 1

Criteria Provided
Multiple Submitters
No Conflicts

CA163392

rs_587777534

3 SubmittersRCV000128620 RCV000779084 RCV002514705

NM_001814.6(CTSC):c.319-15C>T

SNV
Germline

Chr11:88312569

Conflicting classifications of pathogenicity

not specified
Haim-Munk syndrome
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome

Criteria Provided
Conflicting Classifications

CA6219982

rs_45539936

3 SubmittersRCV000244540 RCV001112226 RCV001112225 RCV001523656

NM_001814.6(CTSC):c.954A>G (p.Glu318=)

SNV
Germline

Chr11:88294444

Conflicting classifications of pathogenicity

Haim-Munk syndrome
Papillon-Lefèvre syndrome
Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Conflicting Classifications

CA10631712

rs_886048739

2 SubmittersRCV000286007 RCV000380593 RCV001466025

NM_001814.6(CTSC):c.948G>C (p.Leu316=)

SNV
Germline

Chr11:88294450

Conflicting classifications of pathogenicity

Haim-Munk syndrome
Papillon-Lefèvre syndrome
Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome
CTSC-related disorder

Criteria Provided
Conflicting Classifications

CA6219798

rs_145373075

3 SubmittersRCV000317693 RCV000372393 RCV000901089 RCV004021524

NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys)

SNV
Germline

Chr11:88334992

Conflicting classifications of pathogenicity

Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Conflicting Classifications

CA6220085

rs_142378484

3 SubmittersRCV000324537 RCV000353587 RCV001454256

NM_001814.6(CTSC):c.1314C>T (p.Tyr438=)

SNV
Germline

Chr11:88294084

Conflicting classifications of pathogenicity

Haim-Munk syndrome
Papillon-Lefèvre syndrome
Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Conflicting Classifications

CA6219732

rs_143736590

2 SubmittersRCV000313037 RCV000367712 RCV000973899

NM_001814.6(CTSC):c.729C>T (p.Ile243=)

SNV
Germline

Chr11:88300558

Conflicting classifications of pathogenicity

Haim-Munk syndrome
Papillon-Lefèvre syndrome
Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Conflicting Classifications

CA6219880

rs_766063253

2 SubmittersRCV000306379 RCV000365848 RCV002522215

NM_001814.6(CTSC):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:88337672

Conflicting classifications of pathogenicity

Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Conflicting Classifications

CA10639648

rs_886048742

2 SubmittersRCV002494957

NM_001814.6(CTSC):c.815G>C (p.Arg272Pro)

SNV
Germline

Chr11:88296207

Pathogenic/Likely pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6219835

rs_587777534

4 SubmittersRCV000661991 RCV001332042 RCV003767920

NM_001814.6(CTSC):c.910T>A (p.Tyr304Asn)

SNV
Germline

Chr11:88294488

Likely pathogenic

Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome

Criteria Provided
Single Submitter

CA382022300

rs_201990020

1 SubmittersRCV000807445

NM_001814.6(CTSC):c.395G>A (p.Arg132Gln)

SNV
Germline

Chr11:88312478

Conflicting classifications of pathogenicity

Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Conflicting Classifications

CA6219965

rs_575727793

2 SubmittersRCV000800343 RCV001112221 RCV001112222

NM_001814.6(CTSC):c.203T>G (p.Leu68Arg)

SNV
Germline

Chr11:88335052

Pathogenic/Likely pathogenic

Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
CTSC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA225446938

rs_199474831

4 SubmittersRCV001041477 RCV004031252

NM_001814.6(CTSC):c.1038C>T (p.His346=)

SNV
Germline

Chr11:88294360

Conflicting classifications of pathogenicity

Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome

Criteria Provided
Conflicting Classifications

CA476145402

rs_1355697311

2 SubmittersRCV001112148 RCV001115099 RCV003769129

NM_001814.6(CTSC):c.81T>G (p.Pro27=)

SNV
Germline

Chr11:88337592

Conflicting classifications of pathogenicity

Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome

Criteria Provided
Conflicting Classifications

CA475931268

rs_1370319468

2 SubmittersRCV001113580 RCV001113581 RCV001456673

NM_001814.6(CTSC):c.12G>A (p.Gly4=)

SNV
Germline

Chr11:88337661

Conflicting classifications of pathogenicity

Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome

Criteria Provided
Conflicting Classifications

CA6220162

rs_755959403

2 SubmittersRCV001113582 RCV001113583 RCV001441438

NM_001814.6(CTSC):c.642-15A>G

SNV
Germline

Chr11:88300660

Conflicting classifications of pathogenicity

Haim-Munk syndrome
Papillon-Lefèvre syndrome
Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Conflicting Classifications

CA6219896

rs_748280232

2 SubmittersRCV001109464 RCV001109465 RCV002069777

NM_001814.6(CTSC):c.629G>A (p.Arg210Gln)

SNV
Germline

Chr11:88309175

Conflicting classifications of pathogenicity

Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6219912

rs_370862961

2 SubmittersRCV001370173 RCV004611794

NM_001814.6(CTSC):c.-55C>A

SNV
Germline

Chr11:88337727

Pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA225449786

rs_766114323

2 SubmittersRCV001388606 RCV003323875

NM_001814.6(CTSC):c.268C>T (p.Gln90Ter)

SNV
Germline

Chr11:88334987

Pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome

Criteria Provided
Single Submitter

CA382029808

rs_1408095438

1 SubmittersRCV001921432

NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter)

SNV
Germline

Chr11:88309234

Pathogenic

Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome

Criteria Provided
Single Submitter

CA382025173

rs_2496556090

1 SubmittersRCV001915195

NM_001814.6(CTSC):c.754C>T (p.Gln252Ter)

SNV
Germline

Chr11:88300533

Pathogenic

Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Single Submitter

CA382023550

rs_2134770866

1 SubmittersRCV001970043

NM_001814.6(CTSC):c.1015C>T (p.Arg339Cys)

SNV
Germline

Chr11:88294383

Pathogenic/Likely pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA225417328

rs_1044703733

2 SubmittersRCV003037422 RCV004798020

NM_001814.6(CTSC):c.587T>C (p.Leu196Pro)

SNV
Germline

Chr11:88309217

Pathogenic/Likely pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6219916

rs_34876841

3 SubmittersRCV003058346 RCV005239615

NM_001814.6(CTSC):c.319-1G>A

SNV
Germline

Chr11:88312555

Pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6219979

rs_754779432

2 SubmittersRCV003058347 RCV003238912

NM_001814.6(CTSC):c.401G>A (p.Trp134Ter)

SNV
Germline

Chr11:88312472

Pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome

Criteria Provided
Single Submitter

CA382026612

rs_1937786065

1 SubmittersRCV003079128

NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)

SNV
Germline

Chr11:88300539

Pathogenic/Likely pathogenic

Haim-Munk syndrome
Papillon-Lefèvre syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382023577

rs_1409888746

3 SubmittersRCV002643881 RCV003331441

NM_001814.6(CTSC):c.641+1G>A

SNV
Germline

Chr11:88309162

Likely pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome

Criteria Provided
Single Submitter

CA382024893

rs_1434894149

1 SubmittersRCV002780021

NM_001814.6(CTSC):c.917T>C (p.Ile306Thr)

SNV
Germline

Chr11:88294481

Conflicting classifications of pathogenicity

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA382022285

rs_1386551513

2 SubmittersRCV002766798 RCV002795063

NM_001814.6(CTSC):c.889+1G>A

SNV
Germline

Chr11:88296132

Pathogenic

Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome

Criteria Provided
Single Submitter

CA382022351

rs_2496532669

1 SubmittersRCV002814679

NM_001814.6(CTSC):c.1033T>C (p.Tyr345His)

SNV
Germline

Chr11:88294365

Conflicting classifications of pathogenicity

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome
See cases

Criteria Provided
Conflicting Classifications

CA382022024

rs_1422115423

2 SubmittersRCV003005365 RCV004798016

NM_001814.6(CTSC):c.16T>G (p.Ser6Ala)

SNV
Germline

Chr11:88337657

Conflicting classifications of pathogenicity

Inborn genetic diseases
Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome

Criteria Provided
Conflicting Classifications

CA6220161

rs_750157767

2 SubmittersRCV002772894 RCV003777756

NM_001814.6(CTSC):c.1280A>C (p.Asn427Thr)

SNV
Germline

Chr11:88294118

Likely pathogenic

Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382021481

rs_1260896676

2 SubmittersRCV003324436 RCV005003055

NM_001814.6(CTSC):c.173-2A>C

SNV
Germline

Chr11:88335084

Likely pathogenic

Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Single Submitter

CA382030119

rs_866021264

1 SubmittersRCV003797919

NM_001814.6(CTSC):c.201C>A (p.Tyr67Ter)

SNV
Germline

Chr11:88335054

Pathogenic

Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1

Criteria Provided
Single Submitter

CA382030054

rs_2496620499

1 SubmittersRCV003782822

NM_001814.6(CTSC):c.757+1G>T

SNV
Germline

Chr11:88300529

Likely pathogenic

Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1

Criteria Provided
Multiple Submitters
No Conflicts

CA382023534

rs_767396820

2 SubmittersRCV003782911

NM_001814.6(CTSC):c.1286G>A (p.Trp429Ter)

SNV
Germline

Chr11:88294112

Pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome

Criteria Provided
Single Submitter

CA225416951

rs_887942959

1 SubmittersRCV003783581

NM_001814.6(CTSC):c.555G>A (p.Trp185Ter)

SNV
Germline

Chr11:88309249

Pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome

Criteria Provided
Single Submitter

CA382025223

rs_2496556141

1 SubmittersRCV003783584

NM_001814.6(CTSC):c.415G>A (p.Gly139Arg)

SNV
Germline

Chr11:88312458

Pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6219961

rs_749103588

2 SubmittersRCV003783586

NM_001814.6(CTSC):c.90C>A (p.Cys30Ter)

SNV
Germline

Chr11:88337583

Pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome

Criteria Provided
Single Submitter

CA382030733

rs_202160994

1 SubmittersRCV003783587

NM_001814.6(CTSC):c.328G>T (p.Glu110Ter)

SNV
Germline

Chr11:88312545

Pathogenic

Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1

Criteria Provided
Single Submitter

CA382027009

rs_2496562331

1 SubmittersRCV003787847

NM_001814.6(CTSC):c.415G>T (p.Gly139Ter)

SNV
Germline

Chr11:88312458

Pathogenic

Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Single Submitter

CA382026556

rs_749103588

1 SubmittersRCV003786609

NM_001814.6(CTSC):c.877C>T (p.Gln293Ter)

SNV
Germline

Chr11:88296145

Pathogenic

Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Single Submitter

CA382022383

rs_2496532700

1 SubmittersRCV003806200

NM_001814.6(CTSC):c.642-2A>G

SNV
Germline

Chr11:88300647

Likely pathogenic

Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Single Submitter

CA382024007

rs_2496540747

1 SubmittersRCV003805794

NM_001814.6(CTSC):c.485+1G>A

SNV
Germline

Chr11:88312387

Likely pathogenic

Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Single Submitter

CA382026255

rs_2496561722

1 SubmittersRCV003802680

NM_001814.6(CTSC):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr11:88312395

Pathogenic

Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Single Submitter

CA382026290

rs_1171989505

1 SubmittersRCV003808538

NM_001814.6(CTSC):c.351C>G (p.Tyr117Ter)

SNV
Germline

Chr11:88312522

Pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome

Criteria Provided
Single Submitter

CA382026859

rs_1343944955

1 SubmittersRCV003802326

NM_001814.6(CTSC):c.415G>C (p.Gly139Arg)

SNV
Germline

Chr11:88312458

Pathogenic

Haim-Munk syndrome
Papillon-Lefèvre syndrome
Periodontitis, aggressive 1

Criteria Provided
Single Submitter

CA382026557

rs_749103588

1 SubmittersRCV003813426

NM_001814.6(CTSC):c.303G>A (p.Trp101Ter)

SNV
Germline

Chr11:88334952

Pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome

Criteria Provided
Single Submitter

CA382029645

rs_2496619764

1 SubmittersRCV003807446

NM_001814.6(CTSC):c.930C>G (p.Tyr310Ter)

SNV
Germline

Chr11:88294468

Pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome

Criteria Provided
Single Submitter

CA382022256

rs_148742372

1 SubmittersRCV003807597

NM_001814.6(CTSC):c.814C>A (p.Arg272Ser)

SNV
Germline

Chr11:88296208

Conflicting classifications of pathogenicity

not specified
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome

Criteria Provided
Conflicting Classifications

rs_751326698

2 SubmittersRCV004586172 RCV005006448

NM_001814.6(CTSC):c.745G>T (p.Val249Phe)

SNV
Germline

Chr11:88300542

Likely pathogenic

Haim-Munk syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004790141

NM_001814.6(CTSC):c.1339G>T (p.Glu447Ter)

SNV
Germline

Chr11:88294059

Likely pathogenic

Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005004735

NM_001814.6(CTSC):c.711G>A (p.Trp237Ter)

SNV
Germline

Chr11:88300576

Pathogenic

Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005215583