Total 12 pathogenic variants reported for Multicentric osteolysis, nodulosis, and 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.302G>A (p.Arg101His)	SNV Germline	Chr16:55483057	Pathogenic	Multicentric osteolysis, nodulosis, and arthropathy	No Assertion Criteria Provided	CA127079	rs_121912953	1 SubmittersRCV004576903
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	4 SubmittersRCV000018644 RCV000726039 RCV003147301
NM_004530.6(MMP2):c.1210G>A (p.Glu404Lys)	SNV Germline	Chr16:55491830	Likely pathogenic	Multicentric osteolysis, nodulosis, and arthropathy	Criteria Provided Single Submitter	CA127082	rs_121912955	2 SubmittersRCV004576904
NM_004530.6(MMP2):c.301C>T (p.Arg101Cys)	SNV Germline	Chr16:55483056	Pathogenic	Multicentric osteolysis nodulosis arthropathy spectrum Multicentric osteolysis, nodulosis, and arthropathy	Criteria Provided Single Submitter	CA395931647	rs_1369454759	2 SubmittersRCV001837584 RCV005412282
NM_004530.6(MMP2):c.1585G>T (p.Glu529Ter)	SNV Germline	Chr16:55497038	Likely pathogenic	Multicentric osteolysis, nodulosis, and arthropathy	Criteria Provided Single Submitter			1 SubmittersRCV005362141
NM_004530.6(MMP2):c.1161G>A (p.Trp387Ter)	SNV Germline	Chr16:55489805	Pathogenic	Multicentric osteolysis, nodulosis, and arthropathy	Criteria Provided Single Submitter			1 SubmittersRCV005433102
NM_004530.6(MMP2):c.1610-1G>C	SNV Germline	Chr16:55498288	Likely pathogenic	Multicentric osteolysis, nodulosis, and arthropathy	Criteria Provided Single Submitter			1 SubmittersRCV006685699