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Links from MedGen

Items: 1 to 100 of 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMP2
(E155* +2 more)
Single nucleotide variant
(nonsense)
Multicentric osteolysis nodulosis arthropathy spectrum
GPathogenic
MMP2
(I409F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP2
(R101C +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GPathogenic
MMP2
(Y187* +2 more)
Single nucleotide variant
(nonsense)
Multicentric osteolysis nodulosis arthropathy spectrum
GPathogenic
MMP2
(C102* +2 more)
Single nucleotide variant
(nonsense)
Multicentric osteolysis nodulosis arthropathy spectrum
GLikely pathogenic
MMP2
(G334V +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
(S228fs +2 more)
Deletion
(frameshift variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GPathogenic
MMP2
(S262F +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
(F412del +2 more)
Microsatellite
(inframe_deletion)
Multicentric osteolysis nodulosis arthropathy spectrum
GLikely pathogenic
MMP2
(E101K +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GLikely pathogenic
MMP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
MMP2
(D160Y +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
(R550* +2 more)
Single nucleotide variant
(nonsense)
Multicentric osteolysis nodulosis arthropathy spectrum
GPathogenic
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GBenign
MMP2
(T422M +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
(R445Q +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+1 more
GUncertain significance
MMP2
(T426P +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
(G39S)
Single nucleotide variant
(missense variant +1 more)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
(P13R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GBenign
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GBenign
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
(T307I +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
(F247Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP2
(R246H +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+2 more
GUncertain significance
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GLikely benign
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
(P562L +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+1 more
GUncertain significance
MMP2
(A495V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP2
(Y493H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP2
Single nucleotide variant
(synonymous variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP2
Single nucleotide variant
(synonymous variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
(R65L +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP2
Single nucleotide variant
(intron variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
(V571L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
MMP2
(R500H +2 more)
Single nucleotide variant
(missense variant)
MMP2-related disorder
+2 more
GBenign
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP2
Single nucleotide variant
(synonymous variant +1 more)
Multicentric osteolysis nodulosis arthropathy spectrum
+1 more
GConflicting classifications of pathogenicity
MMP2
(M359I +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+1 more
GBenign
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP2
(Y126C +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
LPCAT2
Single nucleotide variant
(intron variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GPathogenic
MMP2
(G601V +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GLikely benign
MMP2
(E166K +2 more)
Single nucleotide variant
(missense variant)
MMP2-related disorder
+3 more
GBenign/Likely benign
MMP2
(D180V +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GBenign
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GBenign
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GBenign
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GLikely benign
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GBenign
MMP2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GLikely benign
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GBenign
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GBenign
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(3 prime UTR variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MMP2
Single nucleotide variant
(synonymous variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+1 more
GBenign
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MMP2
Single nucleotide variant
(intron variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+1 more
GBenign/Likely benign
MMP2
(D586E +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+1 more
GUncertain significance
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP2
(V523L +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
MMP2
Single nucleotide variant
(synonymous variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+1 more
GBenign
MMP2
(A447V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
MMP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
MMP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP2
Single nucleotide variant
(synonymous variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+1 more
GBenign
MMP2
(D382N +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+2 more
GUncertain significance
MMP2
Single nucleotide variant
(synonymous variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+1 more
GBenign
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MMP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MMP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP2
Single nucleotide variant
(synonymous variant +1 more)
Multicentric osteolysis nodulosis arthropathy spectrum
+2 more
GBenign/Likely benign
MMP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Multicentric osteolysis nodulosis arthropathy spectrum
GUncertain significance
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