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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
MMP2
(D90fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
MMP2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MMP2
(E166K +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+2 more
GBenign/Likely benign
MMP2
(Y244* +2 more)
Single nucleotide variant
(nonsense)
Multicentric osteolysis nodulosis arthropathy spectrum
+2 more
GPathogenic
MMP2
Single nucleotide variant
(synonymous variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+1 more
GConflicting classifications of pathogenicity
MMP2
(T311M +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+2 more
GConflicting classifications of pathogenicity
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP2
(N380fs +2 more)
Deletion
(frameshift variant)
Multicentric osteolysis, nodulosis, and arthropathy
+2 more
GPathogenic
MMP2
(R482C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MMP2
(G601V +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+2 more
GLikely benign
MMP2
(V620I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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