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Items: 1 to 100 of 319

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KBTBD3, KDM4D
+528 more
Copy number loss
See cases
GPathogenic
LOC130006596, LOC130006597
+387 more
Copy number loss
See cases
GPathogenic
LOC132089949, LOC132089950
+149 more
Copy number loss
See cases
GPathogenic
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
ANGPTL5, BIRC2
+73 more
Copy number gain
See cases
GPathogenic
MMP13
Single nucleotide variant
not provided
GBenign
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GConflicting classifications of pathogenicity
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
Duplication
(3 prime UTR variant)
Spondyloepimetaphyseal dysplasia
+2 more
GBenign
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+2 more
GBenign
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
Duplication
(3 prime UTR variant)
Spondyloepimetaphyseal dysplasia
+1 more
GUncertain significance
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GBenign/Likely benign
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GBenign/Likely benign
MMP13
Duplication
(3 prime UTR variant)
Spondyloepimetaphyseal dysplasia
+1 more
GUncertain significance
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+2 more
GBenign/Likely benign
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GConflicting classifications of pathogenicity
MMP13
Single nucleotide variant
(3 prime UTR variant)
Spondyloepimetaphyseal dysplasia, Missouri type
+1 more
GConflicting classifications of pathogenicity
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
Single nucleotide variant
(3 prime UTR variant)
Metaphyseal anadysplasia
+1 more
GConflicting classifications of pathogenicity
MMP13
Deletion
(frameshift variant +1 more)
Metaphyseal chondrodysplasia, Spahr type
GUncertain significance
MMP13
(M463T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(V462I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP13
(R461H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(R461G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(R458H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MMP13
(R458S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MMP13
(R458fs)
Deletion
(frameshift variant)
MMP13-related disorder
GUncertain significance
MMP13
(R458C)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia
+3 more
GConflicting classifications of pathogenicity
MMP13
(S456N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(G446R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
MMP13
(Y442C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
Duplication
(intron variant)
not provided
GBenign
MMP13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP13
Single nucleotide variant
(intron variant)
not provided
GBenign
MMP13
Single nucleotide variant
(intron variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP13
Single nucleotide variant
(intron variant)
not provided
GBenign
MMP13
Single nucleotide variant
(intron variant)
not provided
GBenign
MMP13
Single nucleotide variant
(intron variant)
Metaphyseal anadysplasia
+2 more
GConflicting classifications of pathogenicity
MMP13
Single nucleotide variant
(intron variant)
Metaphyseal anadysplasia
+1 more
GConflicting classifications of pathogenicity
MMP13
(V434A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(V431A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(P425A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP13
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MMP13
(P417L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(P417S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP13
(D413Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(D407V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(D406E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(Y405C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
MMP13
Deletion
(intron variant)
not provided
GBenign
MMP13
Single nucleotide variant
(intron variant)
not provided
GBenign
MMP13
Single nucleotide variant
(intron variant)
not provided
GBenign
MMP13
Single nucleotide variant
(intron variant)
not provided
GBenign
MMP13
Insertion
(intron variant)
not provided
GLikely benign
MMP13
Microsatellite
(intron variant)
not provided
GBenign
MMP13
Microsatellite
(intron variant)
not provided
GBenign
MMP13
Microsatellite
(intron variant)
not provided
GBenign
MMP13
Microsatellite
(intron variant)
not provided
GBenign
MMP13
Microsatellite
(intron variant)
not provided
GBenign
MMP13
Microsatellite
(intron variant)
not provided
GLikely benign
MMP13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MMP13
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MMP13
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP13
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP13
(L396P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(K393fs)
Duplication
(frameshift variant)
not provided
GPathogenic
MMP13
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MMP13
(D390G)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia
+2 more
GBenign/Likely benign
MMP13
(F388S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(V379L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(L375F)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
(G374D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(G374V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(L373M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MMP13
Single nucleotide variant
(synonymous variant)
Metaphyseal anadysplasia
+2 more
GConflicting classifications of pathogenicity
MMP13
(D361G)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia
+1 more
GUncertain significance
MMP13
(Y360*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MMP13
Single nucleotide variant
(synonymous variant)
Metaphyseal anadysplasia
+3 more
GBenign/Likely benign
MMP13
(L357V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(A356V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMP13
(W355*)
Single nucleotide variant
(nonsense)
MMP13-related disorder
GUncertain significance
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