"Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1341994	NM_004530.6(MMP2):c.301C>T (p.Arg101Cys)	MMP2 (R101C +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GPathogenic
Select item 1332856	NM_004530.6(MMP2):c.306C>A (p.Cys102Ter)	MMP2 (C102* +2 more)	Single nucleotide variant (nonsense)	Multicentric osteolysis nodulosis arthropathy spectrum	GLikely pathogenic
Select item 1332865	NM_004530.6(MMP2):c.789C>A (p.Tyr263Ter)	MMP2 (Y187* +2 more)	Single nucleotide variant (nonsense)	Multicentric osteolysis nodulosis arthropathy spectrum	GPathogenic
Select item 1332689	NM_004530.6(MMP2):c.910_916del (p.Ser304fs)	MMP2 (S228fs +2 more)	Deletion (frameshift variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GPathogenic
Select item 1332696	NM_004530.6(MMP2):c.1229G>T (p.Gly410Val)	MMP2 (G334V +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis nodulosis arthropathy spectrum	GUncertain significance
Select item 198809	NM_004530.6(MMP2):c.1287del (p.Asn430fs)	MMP2 (N380fs +2 more)	Deletion (frameshift variant)	Multicentric osteolysis, nodulosis, and arthropathy +2 more	GPathogenic

ClinVar