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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMP13
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MMP13
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MMP13
(F354L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(S295N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(D258fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MMP13
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MMP13
(W207G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MMP13
(V148E)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MMP13
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126861318, MMP13
(C96fs)
Deletion
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
LOC126861318, MMP13
(Q37R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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