Total 31 pathogenic variants reported for Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_005807.6(PRG4):c.2215A>T (p.Lys739Ter) SNV
Germline		 Chr1:186307934 Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome No Assertion Criteria Provided
 rs_776645239

1 SubmittersRCV000845175
NM_005807.6(PRG4):c.4101C>G (p.Tyr1367Ter) SNV
Germline		 Chr1:186312878 Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome No Assertion Criteria Provided
 rs_1388040598

1 SubmittersRCV000845174
NM_005807.6(PRG4):c.3496C>T (p.Arg1166Ter) SNV
Germline		 Chr1:186309867 Pathogenic/Likely pathogenic Condition: not provided
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_773621375

2 SubmittersRCV001312113RCV002499597
NM_003292.3(TPR):c.*1130G>C SNV
Germline		 Chr1:186312841 Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Criteria Provided
Single Submitter
 rs_1657377652

1 SubmittersRCV001784877
NM_005807.6(PRG4):c.301G>T (p.Glu101Ter) SNV
Germline		 Chr1:186301693 Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Criteria Provided
Single Submitter
 rs_748999850

1 SubmittersRCV002052171
NM_005807.6(PRG4):c.962T>A (p.Leu321Ter) SNV
Germline		 Chr1:186306681 Likely pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Criteria Provided
Single Submitter
 rs_2102020754

1 SubmittersRCV002266118
NM_005807.6(PRG4):c.4029G>A (p.Trp1343Ter) SNV
Germline		 Chr1:186312806 Likely pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003388654