U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMP2
(H113R +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis, nodulosis, and arthropathy
GUncertain significance
MMP2
(P373S +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis, nodulosis, and arthropathy
GUncertain significance
MMP2
(N354fs +2 more)
Deletion
(frameshift variant)
Multicentric osteolysis, nodulosis, and arthropathy
GPathogenic
MMP2
(D180V +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis, nodulosis, and arthropathy
GLikely benign
MMP2
(D382N +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+3 more
GUncertain significance
MMP2
(N380fs +2 more)
Deletion
(frameshift variant)
Multicentric osteolysis, nodulosis, and arthropathy
+2 more
GPathogenic
MMP2
(G454fs +2 more)
Deletion
(frameshift variant)
Multicentric osteolysis, nodulosis, and arthropathy
GPathogenic
MMP2
(V324del +2 more)
Deletion
(inframe_deletion)
Multicentric osteolysis, nodulosis, and arthropathy
GPathogenic
MMP2
(E404K +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis, nodulosis, and arthropathy
GLikely pathogenic
MMP2
(Y244* +2 more)
Single nucleotide variant
(nonsense)
Multicentric osteolysis nodulosis arthropathy spectrum
+2 more
GPathogenic
MMP2
(R101H +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis, nodulosis, and arthropathy
GPathogenic
Format
Items per page
Sort by
Choose Destination