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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMP2
(G8D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MMP2
(A42S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MMP2
(E13G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MMP2
(K25M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MMP2
(Q85L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(T93A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(E19K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(R48Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(K45E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MMP2
(A143S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(D153N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(R99L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(G200S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(G202R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(G166E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(T200N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(R202H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(Y187S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(D192N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(K194N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(G196S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(R246H +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+2 more
GUncertain significance
MMP2
(T311M +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+2 more
GConflicting classifications of pathogenicity
MMP2
(T243N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(K252T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(C287G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(G295R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MMP2
(D382N +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+3 more
GUncertain significance
MMP2
(D308E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(R385C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(I348V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(R356P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(A397S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(R482C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MMP2
(R491W +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MMP2
(L432P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(P464L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(L440F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(N538S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP2
(Y467C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MMP2
(R500Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(D586E +2 more)
Single nucleotide variant
(missense variant)
Multicentric osteolysis nodulosis arthropathy spectrum
+1 more
GUncertain significance
MMP2
(G576S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MMP2
(G576D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MMP2
(E641Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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