Total 36 pathogenic variants reported for Progressive Pseudorheumatoid Dysplasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_198239.2(CCN6):c.434G>A (p.Cys145Tyr) SNV
Germline		 Chr6:112064842 Pathogenic Progressive pseudorheumatoid dysplasia No Assertion Criteria Provided
 CA118176 rs_121908899

1 SubmittersRCV000006751
NM_198239.2(CCN6):c.993G>A (p.Trp331Ter) SNV
Germline		 Chr6:112069548 Pathogenic Progressive pseudorheumatoid dysplasia No Assertion Criteria Provided
 CA118178 rs_121908900

1 SubmittersRCV000006752
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) SNV
Germline		 Chr6:112061098 Pathogenic/Likely pathogenic Progressive pseudorheumatoid dysplasia
Condition: not provided
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118180 rs_121908901

12 SubmittersRCV000006753RCV001267919RCV001196832
NM_198239.2(CCN6):c.232T>C (p.Cys78Arg) SNV
Germline		 Chr6:112061174 Pathogenic Progressive pseudorheumatoid dysplasia No Assertion Criteria Provided
 CA118182 rs_121908902

1 SubmittersRCV000006754
NM_198239.2(CCN6):c.1000T>C (p.Ser334Pro) SNV
Germline		 Chr6:112069555 Pathogenic Progressive pseudorheumatoid dysplasia
Condition: not provided		 Criteria Provided
Single Submitter
 CA118183 rs_121908903

2 SubmittersRCV000006760RCV003555946
NM_198239.2(CCN6):c.589+1G>A SNV
Germline		 Chr6:112064998 Pathogenic Progressive pseudorheumatoid dysplasia Criteria Provided
Single Submitter
 CA10585946 rs_879255273

1 SubmittersRCV000239146
NM_198239.2(CCN6):c.91C>A (p.Pro31Thr) SNV
Germline		 Chr6:112061033 Conflicting classifications of pathogenicity Progressive pseudorheumatoid dysplasia
Condition: not provided
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3963911 rs_145590972

5 SubmittersRCV000261293RCV000954666RCV000728168RCV004022014
NM_198239.2(CCN6):c.77C>T (p.Pro26Leu) SNV
Germline		 Chr6:112061019 Conflicting classifications of pathogenicity Progressive pseudorheumatoid dysplasia
not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3963906 rs_149609367

5 SubmittersRCV000301408RCV000728169RCV000954665RCV004022013
NM_198239.2(CCN6):c.48+13C>T SNV
Germline		 Chr6:112054418 Conflicting classifications of pathogenicity Progressive pseudorheumatoid dysplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3963851 rs_375836805

2 SubmittersRCV000359781RCV003766042
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) SNV
Germline		 Chr6:112069565 Pathogenic/Likely pathogenic Inborn genetic diseases
Progressive pseudorheumatoid dysplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA365376780 rs_781986930

6 SubmittersRCV000624107RCV000790883RCV003558478
NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr) SNV
Germline		 Chr6:112061175 Conflicting classifications of pathogenicity Progressive pseudorheumatoid dysplasia Criteria Provided
Conflicting Classifications
 rs_1562595388

2 SubmittersRCV000778771
NM_198239.2(CCN6):c.589G>C (p.Ala197Pro) SNV
Germline		 Chr6:112064997 Pathogenic/Likely pathogenic Progressive pseudorheumatoid dysplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1554313639

3 SubmittersRCV000789044RCV003558597
NM_198239.2(CCN6):c.131G>A (p.Arg44His) SNV
Germline		 Chr6:112061073 Conflicting classifications of pathogenicity Condition: not provided
Progressive pseudorheumatoid dysplasia
CCN6-related disorder		 Criteria Provided
Conflicting Classifications
 rs_782703789

4 SubmittersRCV000883076RCV001156678RCV003920584
NM_198239.2(CCN6):c.783+14A>G SNV
Germline		 Chr6:112068412 Conflicting classifications of pathogenicity Progressive pseudorheumatoid dysplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_781966767

2 SubmittersRCV001151225RCV003769722
NM_198239.2(CCN6):c.149G>A (p.Trp50Ter) SNV
Germline		 Chr6:112061091 Pathogenic Progressive pseudorheumatoid dysplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_927750682

2 SubmittersRCV002249330RCV003774715
NM_198239.2(CCN6):c.80T>A (p.Leu27Ter) SNV
Germline		 Chr6:112061022 Pathogenic Progressive pseudorheumatoid dysplasia Criteria Provided
Single Submitter
 rs_2114444927

1 SubmittersRCV002251201
NM_198239.2(CCN6):c.667T>G (p.Cys223Gly) SNV
Germline		 Chr6:112068282 Pathogenic Progressive pseudorheumatoid dysplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002470048RCV003561055
NM_198239.2(CCN6):c.897C>A (p.Cys299Ter) SNV
Germline		 Chr6:112069452 Likely pathogenic Progressive pseudorheumatoid dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV003230994
NM_198239.2(CCN6):c.737T>C (p.Leu246Pro) SNV
Germline		 Chr6:112068352 Likely pathogenic Metaphyseal chondrodysplasia, Schmid type
Leigh syndrome
Progressive pseudorheumatoid dysplasia		 Criteria Provided
Single Submitter

1 SubmittersRCV004527115RCV004544219RCV004579634
NM_198239.2(CCN6):c.348C>A (p.Tyr116Ter) SNV
Germline		 Chr6:112064756 Likely pathogenic Progressive pseudorheumatoid dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV004577145