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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMP2
(R101H +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis, nodulosis, and arthropathy
GPathogenic
MMP2
(Y244* +2 more)
Single nucleotide variant
(nonsense)
Multicentric osteolysis nodulosis arthropathy spectrum
+2 more
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
GPathogenic
MMP2
(G454fs +2 more)
Deletion
(frameshift variant)
Multicentric osteolysis, nodulosis, and arthropathy
GPathogenic
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