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Links from MedGen

Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDR2
(I474T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
DDR2
(N721S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DDR2
(V775F)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GLikely pathogenic
DDR2
(W72L)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
(R105S)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
(R752H)
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
(I278N)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Copy number loss
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GPathogenic
DDR2
(R668H)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+1 more
GBenign/Likely benign
DDR2
Single nucleotide variant
(5 prime UTR variant)
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
(synonymous variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+1 more
GConflicting classifications of pathogenicity
DDR2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+1 more
GConflicting classifications of pathogenicity
DDR2
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+1 more
GConflicting classifications of pathogenicity
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
(R307C)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+1 more
GUncertain significance
DDR2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+1 more
GConflicting classifications of pathogenicity
DDR2
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+1 more
GConflicting classifications of pathogenicity
DDR2
(M174V)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(3 prime UTR variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(3 prime UTR variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(3 prime UTR variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
(D835G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
(L34M)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
(M441I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DDR2
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+1 more
GConflicting classifications of pathogenicity
DDR2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
DDR2
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+1 more
GConflicting classifications of pathogenicity
DDR2
(R611*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
DDR2
(Q231*)
Single nucleotide variant
(nonsense)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
(M1R)
Single nucleotide variant
(missense variant +1 more)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+1 more
GUncertain significance
DDR2
(T170S)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+1 more
GConflicting classifications of pathogenicity
DDR2
(Q796L)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
DDR2
Single nucleotide variant
(3 prime UTR variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
Single nucleotide variant
(3 prime UTR variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
(E799D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DDR2
(R746Q)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
(M690V)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+2 more
GConflicting classifications of pathogenicity
DDR2
(C503S)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
+1 more
GUncertain significance
DDR2
(P381R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDR2
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GUncertain significance
DDR2
(S311N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DDR2
(R260W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDR2
(L239P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDR2
(I159T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDR2
(R128H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDR2
Single nucleotide variant
(intron variant)
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
(intron variant)
Warburg-cinotti syndrome
+3 more
GBenign
DDR2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
DDR2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DDR2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DDR2
Single nucleotide variant
(intron variant)
Warburg-cinotti syndrome
+3 more
GBenign
DDR2
Single nucleotide variant
(intron variant)
Warburg-cinotti syndrome
+3 more
GBenign
DDR2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
DDR2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DDR2
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+3 more
GConflicting classifications of pathogenicity
DDR2
(E113K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
DDR2
Single nucleotide variant
(splice donor variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GPathogenic
DDR2
(T713I)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GPathogenic
DDR2
(I726R)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GPathogenic
DDR2
(R752C)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
GPathogenic
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