Total 28 pathogenic variants reported for Multicentric osteolysis nodulosis arthropathy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004530.6(MMP2):c.732C>A (p.Tyr244Ter) SNV
Germline		 Chr16:55485677 Pathogenic Multicentric osteolysis nodulosis arthropathy spectrum
Condition: not provided
Multicentric osteolysis, nodulosis, and arthropathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127080 rs_121912954

3 SubmittersRCV000018644RCV000726039RCV003147301
NM_004530.6(MMP2):c.1858G>A (p.Val620Ile) SNV
Germline		 Chr16:55502867 Conflicting classifications of pathogenicity Condition: not provided
Multicentric osteolysis nodulosis arthropathy spectrum		 Criteria Provided
Conflicting Classifications
 CA239856 rs_41459945

3 SubmittersRCV000174335RCV000277336
NM_004530.6(MMP2):c.932C>T (p.Thr311Met) SNV
Germline		 Chr16:55488642 Conflicting classifications of pathogenicity Condition: not provided
Multicentric osteolysis nodulosis arthropathy spectrum
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA246687 rs_572726028

4 SubmittersRCV000179443RCV001119535RCV003258685
NM_004530.6(MMP2):c.759C>T (p.Ser253=) SNV
Germline		 Chr16:55485704 Conflicting classifications of pathogenicity Condition: not provided
Multicentric osteolysis nodulosis arthropathy spectrum		 Criteria Provided
Conflicting Classifications
 CA8060189 rs_148801200

4 SubmittersRCV000287208RCV001118003
NM_004530.6(MMP2):c.588C>T (p.Ala196=) SNV
Germline		 Chr16:55485357 Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10638008 rs_886052125

2 SubmittersRCV000269808RCV003660779
NM_004530.6(MMP2):c.658+10G>A SNV
Germline		 Chr16:55485437 Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8060144 rs_201653184

2 SubmittersRCV000327169RCV000892676
NM_004530.6(MMP2):c.1779G>A (p.Glu593=) SNV
Germline		 Chr16:55502788 Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8060582 rs_202060835

2 SubmittersRCV000273658RCV002521051
NM_004530.6(MMP2):c.658+13C>T SNV
Germline		 Chr16:55485440 Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8060147 rs_768031015

2 SubmittersRCV000365047RCV002521049
NM_004530.6(MMP2):c.1233G>A (p.Leu411=) SNV
Germline		 Chr16:55491853 Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8060359 rs_140172728

3 SubmittersRCV000336821RCV000594549
NM_004530.6(MMP2):c.1336+11G>A SNV
Germline		 Chr16:55491967 Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8060374 rs_17859933

2 SubmittersRCV000403271RCV002056500
NM_004530.6(MMP2):c.1572C>T (p.Tyr524=) SNV
Germline		 Chr16:55497025 Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8060497 rs_374801798

3 SubmittersRCV000362214RCV000897668
NM_017839.5(LPCAT2):c.172-6188G>A SNV
Germline		 Chr16:55519320 Pathogenic Multicentric osteolysis nodulosis arthropathy spectrum No Assertion Criteria Provided
 rs_1567390809

1 SubmittersRCV000767860
NM_004530.6(MMP2):c.1860C>T (p.Val620=) SNV
Germline		 Chr16:55502869 Conflicting classifications of pathogenicity Condition: not provided
Multicentric osteolysis nodulosis arthropathy spectrum		 Criteria Provided
Conflicting Classifications
 rs_139606653

2 SubmittersRCV000886262RCV001119639
NM_004530.6(MMP2):c.96G>T (p.Ser32=) SNV
Germline		 Chr16:55479575 Conflicting classifications of pathogenicity Condition: not provided
Multicentric osteolysis nodulosis arthropathy spectrum		 Criteria Provided
Conflicting Classifications
 rs_146220690

3 SubmittersRCV000904003RCV001121447
NM_004530.6(MMP2):c.1842C>T (p.Pro614=) SNV
Germline		 Chr16:55502851 Conflicting classifications of pathogenicity Condition: not provided
Multicentric osteolysis nodulosis arthropathy spectrum		 Criteria Provided
Conflicting Classifications
 rs_11541998

2 SubmittersRCV000907424RCV001118099
NM_004530.6(MMP2):c.306C>T (p.Cys102=) SNV
Germline		 Chr16:55483061 Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_201679510

2 SubmittersRCV001116555RCV002069878
NM_004530.6(MMP2):c.813C>T (p.Tyr271=) SNV
Germline		 Chr16:55485758 Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_182850530

2 SubmittersRCV001118004RCV001856551
NM_004530.6(MMP2):c.969C>T (p.Tyr323=) SNV
Germline		 Chr16:55488679 Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_561800947

2 SubmittersRCV001119536RCV002558183
NM_004530.6(MMP2):c.1551G>A (p.Pro517=) SNV
Germline		 Chr16:55497004 Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_150310143

2 SubmittersRCV001116654RCV002069883
NM_004530.6(MMP2):c.1648C>T (p.Arg550Ter) SNV
Unknown		 Chr16:55498327 Pathogenic Multicentric osteolysis nodulosis arthropathy spectrum Criteria Provided
Single Submitter
 rs_1962580119

1 SubmittersRCV001170049
NM_004530.6(MMP2):c.529G>A (p.Glu177Lys) SNV
Germline		 Chr16:55484164 Likely pathogenic Multicentric osteolysis nodulosis arthropathy spectrum Criteria Provided
Single Submitter
 rs_1962181218

1 SubmittersRCV001730022
NM_004530.6(MMP2):c.306C>A (p.Cys102Ter) SNV
Germline		 Chr16:55483061 Likely pathogenic Multicentric osteolysis nodulosis arthropathy spectrum Criteria Provided
Single Submitter
 rs_201679510

1 SubmittersRCV001806430
NM_004530.6(MMP2):c.789C>A (p.Tyr263Ter) SNV
Germline		 Chr16:55485734 Pathogenic Multicentric osteolysis nodulosis arthropathy spectrum Criteria Provided
Single Submitter
 rs_2142349089

1 SubmittersRCV001806439
NM_004530.6(MMP2):c.301C>T (p.Arg101Cys) SNV
Germline		 Chr16:55483056 Pathogenic Multicentric osteolysis nodulosis arthropathy spectrum No Assertion Criteria Provided
 rs_1369454759

1 SubmittersRCV001837584
NM_004530.6(MMP2):c.691G>T (p.Glu231Ter) SNV
Germline		 Chr16:55485636 Pathogenic Multicentric osteolysis nodulosis arthropathy spectrum Criteria Provided
Single Submitter
 rs_1168427805

1 SubmittersRCV002250117