Total 79 pathogenic variants reported for Haim-Munk syndrome 
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
Papillon-Lefèvre syndrome
Periodontitis, aggressive 1
Haim-Munk syndrome		 Criteria Provided
Single Submitter
 CA118672

2 SubmittersRCV000007712RCV001040162
NM_001814.6(CTSC):c.856C>T (p.Gln286Ter) SNV
Germline		 Chr11:88296166 Pathogenic Papillon-Lefèvre syndrome
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1		 Criteria Provided
Single Submitter
 CA118679

2 SubmittersRCV000007715RCV003764534
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg) SNV
Germline		 Chr11:88296165 Conflicting classifications of pathogenicity Haim-Munk syndrome
Condition: not provided
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1		 Criteria Provided
Conflicting Classifications
 CA118683 rs_104894208

4 SubmittersRCV000007717RCV000724159RCV003764535
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser) SNV
Germline		 Chr11:88337557 Likely pathogenic Papillon-Lefèvre syndrome
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1		 Criteria Provided
Single Submitter
 CA118686

2 SubmittersRCV000007719RCV003764536
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser) SNV
Germline		 Chr11:88294497 Pathogenic Papillon-Lefèvre syndrome
Papillon-Lefèvre syndrome
Periodontitis, aggressive 1
Haim-Munk syndrome		 Criteria Provided
Single Submitter
 CA118689

2 SubmittersRCV000007720RCV001204386
NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys) SNV
Germline		 Chr11:88294358 Pathogenic Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1		 Criteria Provided
Single Submitter
 CA118701 rs_104894211

2 SubmittersRCV000007724RCV000128617RCV002512877
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter) SNV
Germline		 Chr11:88337577 Pathogenic Papillon-Lefèvre syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome		 Criteria Provided
Single Submitter
 CA163389

2 SubmittersRCV000128619RCV001043532
NM_001814.6(CTSC):c.815G>A (p.Arg272His) SNV
Germline		 Chr11:88296207 Conflicting classifications of pathogenicity Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome		 Criteria Provided
Conflicting Classifications
 CA163392 rs_587777534

4 SubmittersRCV000128620RCV000779084RCV002514705
NM_001814.6(CTSC):c.319-15C>T SNV
Germline		 Chr11:88312569 Conflicting classifications of pathogenicity not specified
Haim-Munk syndrome
Papillon-Lefèvre syndrome
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1		 Criteria Provided
Conflicting Classifications
 CA6219982 rs_45539936

3 SubmittersRCV000244540RCV001112226RCV001112225RCV001523656
NM_001814.6(CTSC):c.954A>G (p.Glu318=) SNV
Germline		 Chr11:88294444 Conflicting classifications of pathogenicity Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Papillon-Lefèvre syndrome		 Criteria Provided
Conflicting Classifications
 CA10631712 rs_886048739

2 SubmittersRCV000286007RCV001466025RCV000380593
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
Papillon-Lefèvre syndrome
Haim-Munk syndrome
CTSC-related disorder		 Criteria Provided
Conflicting Classifications
 CA6219798 rs_145373075

3 SubmittersRCV000317693RCV000372393RCV000901089RCV004021524
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys) SNV
Germline		 Chr11:88334992 Conflicting classifications of pathogenicity Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Papillon-Lefèvre syndrome		 Criteria Provided
Conflicting Classifications
 CA6220085 rs_142378484

2 SubmittersRCV000353587RCV001454256RCV000324537
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
Papillon-Lefèvre syndrome
Haim-Munk syndrome		 Criteria Provided
Conflicting Classifications
 CA6219732 rs_143736590

2 SubmittersRCV000313037RCV000367712RCV000973899
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
Papillon-Lefèvre syndrome
Haim-Munk syndrome		 Criteria Provided
Conflicting Classifications
 CA6219880 rs_766063253

2 SubmittersRCV000306379RCV000365848RCV002522215
NM_001814.6(CTSC):c.1A>G (p.Met1Val) SNV
Germline		 Chr11:88337672 Conflicting classifications of pathogenicity Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome
CTSC-related disorder		 Criteria Provided
Conflicting Classifications
 CA10639648 rs_886048742

3 SubmittersRCV002494957RCV004021525
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) SNV
Germline		 Chr11:88296207 Pathogenic/Likely pathogenic Papillon-Lefèvre syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_587777534

4 SubmittersRCV001332042RCV000661991RCV003767920
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

1 SubmittersRCV000807445
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) SNV
Germline		 Chr11:88312478 Conflicting classifications of pathogenicity Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome		 Criteria Provided
Conflicting Classifications
 rs_575727793

2 SubmittersRCV000800343RCV001112221RCV001112222
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
 rs_199474831

4 SubmittersRCV001041477RCV004031252
NM_001814.6(CTSC):c.1038C>T (p.His346=) SNV
Germline		 Chr11:88294360 Conflicting classifications of pathogenicity Papillon-Lefèvre syndrome
Haim-Munk syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome		 Criteria Provided
Conflicting Classifications
 rs_1355697311

2 SubmittersRCV001112148RCV001115099RCV003769129
NM_001814.6(CTSC):c.81T>G (p.Pro27=) SNV
Germline		 Chr11:88337592 Conflicting classifications of pathogenicity Haim-Munk syndrome
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome		 Criteria Provided
Conflicting Classifications
 rs_1370319468

2 SubmittersRCV001113581RCV001113580RCV001456673
NM_001814.6(CTSC):c.12G>A (p.Gly4=) SNV
Germline		 Chr11:88337661 Conflicting classifications of pathogenicity Haim-Munk syndrome
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome		 Criteria Provided
Conflicting Classifications
 rs_755959403

2 SubmittersRCV001113583RCV001113582RCV001441438
NM_001814.6(CTSC):c.642-15A>G SNV
Germline		 Chr11:88300660 Conflicting classifications of pathogenicity Haim-Munk syndrome
Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome		 Criteria Provided
Conflicting Classifications
 rs_748280232

2 SubmittersRCV001109464RCV001109465RCV002069777
NM_001814.6(CTSC):c.-55C>A SNV
Germline		 Chr11:88337727 Pathogenic Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001388606RCV003323875
NM_001814.6(CTSC):c.268C>T (p.Gln90Ter) SNV
Germline		 Chr11:88334987 Pathogenic Papillon-Lefèvre syndrome
Haim-Munk syndrome
Periodontitis, aggressive 1		 Criteria Provided
Single Submitter

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

1 SubmittersRCV001915195
NM_001814.6(CTSC):c.754C>T (p.Gln252Ter) SNV
Germline		 Chr11:88300533 Pathogenic Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV001970043
NM_001814.6(CTSC):c.1015C>T (p.Arg339Cys) SNV
Germline		 Chr11:88294383 Pathogenic Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003037422
NM_001814.6(CTSC):c.587T>C (p.Leu196Pro) SNV
Germline		 Chr11:88309217 Pathogenic Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003058346
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

2 SubmittersRCV003058347RCV003238912
NM_001814.6(CTSC):c.401G>A (p.Trp134Ter) SNV
Germline		 Chr11:88312472 Pathogenic Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003079128
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter) SNV
Germline		 Chr11:88300539 Pathogenic Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Papillon-Lefèvre syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002643881RCV003331441
NM_001814.6(CTSC):c.641+1G>A SNV
Germline		 Chr11:88309162 Likely pathogenic Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV002780021
NM_001814.6(CTSC):c.917T>C (p.Ile306Thr) SNV
Germline		 Chr11:88294481 Conflicting classifications of pathogenicity Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002766798RCV002795063
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

1 SubmittersRCV002814679
NM_001814.6(CTSC):c.16T>G (p.Ser6Ala) SNV
Germline		 Chr11:88337657 Conflicting classifications of pathogenicity Inborn genetic diseases
Periodontitis, aggressive 1
Haim-Munk syndrome
Papillon-Lefèvre syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002772894RCV003777756
NM_001814.6(CTSC):c.173-2A>C SNV
Germline		 Chr11:88335084 Likely pathogenic Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003797919
NM_001814.6(CTSC):c.201C>A (p.Tyr67Ter) SNV
Germline		 Chr11:88335054 Pathogenic Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003782822
NM_001814.6(CTSC):c.757+1G>T SNV
Germline		 Chr11:88300529 Likely pathogenic Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome		 Criteria Provided
Single Submitter

1 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

1 SubmittersRCV003783581
NM_001814.6(CTSC):c.555G>A (p.Trp185Ter) SNV
Germline		 Chr11:88309249 Pathogenic Haim-Munk syndrome
Papillon-Lefèvre syndrome
Periodontitis, aggressive 1		 Criteria Provided
Single Submitter

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
Single Submitter

1 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

1 SubmittersRCV003783587
NM_001814.6(CTSC):c.328G>T (p.Glu110Ter) SNV
Germline		 Chr11:88312545 Pathogenic Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome		 Criteria Provided
Single Submitter

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

1 SubmittersRCV003786609
NM_001814.6(CTSC):c.877C>T (p.Gln293Ter) SNV
Germline		 Chr11:88296145 Pathogenic Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003806200
NM_001814.6(CTSC):c.642-2A>G SNV
Germline		 Chr11:88300647 Likely pathogenic Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003805794
NM_001814.6(CTSC):c.485+1G>A SNV
Germline		 Chr11:88312387 Likely pathogenic Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003802680
NM_001814.6(CTSC):c.478C>T (p.Gln160Ter) SNV
Germline		 Chr11:88312395 Pathogenic Periodontitis, aggressive 1
Papillon-Lefèvre syndrome
Haim-Munk syndrome		 Criteria Provided
Single Submitter

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

1 SubmittersRCV003802326
NM_001814.6(CTSC):c.415G>C (p.Gly139Arg) SNV
Germline		 Chr11:88312458 Pathogenic Haim-Munk syndrome
Periodontitis, aggressive 1
Papillon-Lefèvre syndrome		 Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003807597