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Links from MedGen

Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMP9
(D131E)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
Gnot provided
MMP9
(Y277*)
Single nucleotide variant
(nonsense)
Metaphyseal anadysplasia 2
GUncertain significance
MMP9
(R51C)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
GLikely pathogenic
MMP9
(G310fs)
Deletion
(frameshift variant)
Metaphyseal anadysplasia 2
GLikely pathogenic
MMP9
(P153Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP9
(G408S)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
GUncertain significance
MMP9
(T27I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP9, SLC12A5-AS1
(V697M)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
+1 more
GUncertain significance
MMP9
(C329*)
Single nucleotide variant
(nonsense)
Metaphyseal anadysplasia 2
GPathogenic
LOC130065978, MMP9
+1 more
(V642A)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal anadysplasia 2
GUncertain significance
LOC130065978, MMP9
+1 more
(D636H)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal anadysplasia 2
GUncertain significance
MMP9
(D87N)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
GUncertain significance
MMP9
(P69L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP9
Single nucleotide variant
(intron variant)
Metaphyseal anadysplasia 2
+1 more
GConflicting classifications of pathogenicity
MMP9
(P511L)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
GUncertain significance
MMP9
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP9
(P465L)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
GUncertain significance
MMP9
(G327R)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
GUncertain significance
MMP9
(G306C)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
GUncertain significance
MMP9
(E274K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP9
(N261S)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
+1 more
GConflicting classifications of pathogenicity
LOC100128028, MMP9
+1 more
(V691M)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
GUncertain significance
MMP9
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP9
(V151M)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
GUncertain significance
MMP9
(K115R)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
+1 more
GUncertain significance
MMP9
Single nucleotide variant
(synonymous variant)
Metaphyseal anadysplasia 2
+2 more
GBenign
MMP9
(L187F)
Single nucleotide variant
(missense variant)
MMP9-related disorder
+2 more
GBenign/Likely benign
MMP9, SLC12A5-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MMP9
Single nucleotide variant
(synonymous variant)
Metaphyseal anadysplasia 2
+1 more
GConflicting classifications of pathogenicity
MMP9
(N38S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
MMP9
(R24C)
Single nucleotide variant
(missense variant)
MMP9-related disorder
+2 more
GBenign/Likely benign
MMP9
Deletion
(splice donor variant)
Metaphyseal anadysplasia 2
GUncertain significance
MMP9, SLC12A5-AS1
(W588*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
MMP9, SLC12A5-AS1
(W560*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
MMP9
(P429fs)
Duplication
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC100128028, MMP9
+1 more
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia 2
GUncertain significance
SLC12A5-AS1, MMP9
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SLC12A5-AS1, MMP9
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia 2
+1 more
GBenign
MMP9, SLC12A5-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LOC100128028, MMP9
+1 more
(R681H)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
GUncertain significance
MMP9, SLC12A5-AS1
(R668Q)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
MMP9, SLC12A5-AS1
+1 more
(R631S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Metaphyseal anadysplasia 2
+1 more
GConflicting classifications of pathogenicity
MMP9, SLC12A5-AS1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Metaphyseal anadysplasia 2
GUncertain significance
MMP9
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MMP9
Single nucleotide variant
(intron variant)
Metaphyseal anadysplasia 2
GUncertain significance
MMP9
Single nucleotide variant
(intron variant)
Metaphyseal anadysplasia 2
+1 more
GBenign
MMP9
Single nucleotide variant
(intron variant)
Metaphyseal anadysplasia 2
+1 more
GBenign
MMP9
(C302*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP9
(I293N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP9
(Q279R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
MMP9
(R239H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
MMP9
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
MMP9
(T155I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP9
(A20V)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
+1 more
GBenign/Likely benign
MMP9
(A20T)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
GUncertain significance
MMP9
Single nucleotide variant
(synonymous variant)
Metaphyseal anadysplasia 2
+1 more
GBenign/Likely benign
MMP9, SLC12A5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GBenign
MMP9
(T258I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP9
(P472S)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
+1 more
GUncertain significance
MMP9, SLC12A5-AS1
(R574P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GBenign
MMP9
(G296S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP9
(M1K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
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