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Items: 1 to 100 of 371

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ALDH9A1
+371 more
Copy number loss
See cases
GPathogenic
ADCY10, ALDH9A1
+406 more
Copy number loss
See cases
GPathogenic
LOC129931815, LOC129931816
+151 more
Copy number loss
See cases
GPathogenic
DDR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(5 prime UTR variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(intron variant)
not provided
GBenign
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
(M1R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DDR2
(V10M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDR2
(P27S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
Connective tissue disorder
+2 more
GBenign/Likely benign
DDR2
(I29V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DDR2
(I29L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
(R31C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
(L34M)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
(G35S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
(S37T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
(G38fs)
Deletion
(frameshift variant)
not provided
GPathogenic
DDR2
(Q40H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
not provided
GBenign
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
(L63V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDR2
(D64Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDR2
(D64E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDR2
(W72L)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+1 more
GConflicting classifications of pathogenicity
DDR2
(D81E)
Single nucleotide variant
(missense variant)
DDR2-related condition
+1 more
GConflicting classifications of pathogenicity
DDR2
(L83V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
(H92Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDR2
(V100L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDR2
(G104R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
(R105S)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDR2
(E113K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
DDR2
(M117fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
DDR2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DDR2
(T127I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
(R128H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDR2
(R133W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
(R133Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+3 more
GConflicting classifications of pathogenicity
DDR2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DDR2
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
DDR2
Microsatellite
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
(V140L)
Single nucleotide variant
(missense variant)
Connective tissue disorder
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
(G143E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
(N144S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDR2
(N146S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
(P147L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
DDR2-related condition
+1 more
GBenign/Likely benign
DDR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDR2
(K153N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
(P157L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDR2
(I159T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDR2
(R165Q)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDR2
(T170S)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+1 more
GConflicting classifications of pathogenicity
DDR2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DDR2
(D171G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
(S173C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
(M174V)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DDR2
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
DDR2
(S193Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
Single nucleotide variant
(intron variant)
not provided
GBenign
DDR2
Single nucleotide variant
(intron variant)
not provided
GBenign
DDR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDR2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+1 more
GConflicting classifications of pathogenicity
DDR2
(T226R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
Deletion
(frameshift variant)
not provided
GPathogenic
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