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Links from MedGen

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCN6
Single nucleotide variant
(intron variant)
Progressive pseudorheumatoid dysplasia
GUncertain significance
CCN6
Indel
(non-coding transcript variant +1 more)
Progressive pseudorheumatoid dysplasia
GPathogenic
CCN6
(C299*)
Single nucleotide variant
(nonsense +1 more)
Progressive pseudorheumatoid dysplasia
GLikely pathogenic
CCN6
(L14fs)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CCN6
(L246fs)
Deletion
(frameshift variant +1 more)
Progressive pseudorheumatoid dysplasia
GPathogenic
CCN6
(C223G)
Single nucleotide variant
(missense variant +1 more)
Progressive pseudorheumatoid dysplasia
+1 more
GPathogenic
CCN6
(L27*)
Single nucleotide variant
(nonsense +1 more)
Progressive pseudorheumatoid dysplasia
GPathogenic
CCN6
(W50*)
Single nucleotide variant
(nonsense +1 more)
Progressive pseudorheumatoid dysplasia
+1 more
GPathogenic
CCN6
Indel
(nonsense +1 more)
Progressive pseudorheumatoid dysplasia
GPathogenic
CCN6
(C209fs)
Deletion
(frameshift variant +1 more)
Progressive pseudorheumatoid dysplasia
GPathogenic
CCN6
(C209fs)
Duplication
(frameshift variant +1 more)
Progressive pseudorheumatoid dysplasia
+1 more
GPathogenic
CCN6
(L10P)
Single nucleotide variant
(missense variant +1 more)
Progressive pseudorheumatoid dysplasia
GUncertain significance
CCN6
Single nucleotide variant
(intron variant)
Progressive pseudorheumatoid dysplasia
+1 more
GConflicting classifications of pathogenicity
CCN6
(D253N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
CCN6
(C179G)
Single nucleotide variant
(missense variant +1 more)
Progressive pseudorheumatoid dysplasia
+1 more
GUncertain significance
CCN6
(T267fs)
Duplication
(frameshift variant +1 more)
Progressive pseudorheumatoid dysplasia
GPathogenic
CCN6
(W216C)
Single nucleotide variant
(missense variant +1 more)
Progressive pseudorheumatoid dysplasia
GUncertain significance
CCN6
(S236fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
CCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
CCN6
(R44H)
Single nucleotide variant
(missense variant +1 more)
Progressive pseudorheumatoid dysplasia
+2 more
GConflicting classifications of pathogenicity
CCN6
(G83E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
CCN6
(A197P +1 more)
Single nucleotide variant
(missense variant +1 more)
Progressive pseudorheumatoid dysplasia
+1 more
GPathogenic/Likely pathogenic
CCN6
(C78Y)
Single nucleotide variant
(missense variant +1 more)
Progressive pseudorheumatoid dysplasia
GConflicting classifications of pathogenicity
CCN6
(V231fs)
Deletion
(frameshift variant +1 more)
Progressive pseudorheumatoid dysplasia
GPathogenic
CCN6
(C337Y)
Single nucleotide variant
(missense variant +1 more)
Progressive pseudorheumatoid dysplasia
+2 more
GPathogenic/Likely pathogenic
CCN6
(N178I)
Single nucleotide variant
(missense variant +1 more)
Progressive pseudorheumatoid dysplasia
+3 more
GBenign/Likely benign
CCN6
(S290fs)
Microsatellite
(frameshift variant +1 more)
Progressive pseudorheumatoid dysplasia
+1 more
GPathogenic
CCN6
(I298L)
Single nucleotide variant
(missense variant +1 more)
Progressive pseudorheumatoid dysplasia
+2 more
GBenign
CCN6
Single nucleotide variant
(synonymous variant +1 more)
Progressive pseudorheumatoid dysplasia
+1 more
GBenign
CCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
CCN6
Single nucleotide variant
(synonymous variant +1 more)
Progressive pseudorheumatoid dysplasia
+2 more
GBenign
CCN6
Single nucleotide variant
(synonymous variant +1 more)
Progressive pseudorheumatoid dysplasia
GUncertain significance
CCN6
(R60C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign
CCN6
(Q56H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
CCN6
(P31T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CCN6
Single nucleotide variant
(synonymous variant +1 more)
Progressive pseudorheumatoid dysplasia
+1 more
GBenign
CCN6
(P26L)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
CCN6
Single nucleotide variant
(synonymous variant +1 more)
Progressive pseudorheumatoid dysplasia
+1 more
GBenign
CCN6
Single nucleotide variant
(intron variant)
Progressive pseudorheumatoid dysplasia
+1 more
GConflicting classifications of pathogenicity
CCN6
Single nucleotide variant
(5 prime UTR variant +1 more)
Progressive pseudorheumatoid dysplasia
+1 more
GBenign
CCN6
Single nucleotide variant
(splice donor variant)
Progressive pseudorheumatoid dysplasia
GPathogenic
CCN6
(C247fs)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CCN6
(F280fs)
Deletion
(frameshift variant +1 more)
Progressive pseudorheumatoid dysplasia
GPathogenic
CCN6
(S334P)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
CCN6
(A15fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
CCN6
(Q289fs)
Duplication
(frameshift variant +1 more)
CCN6-related condition
+1 more
GPathogenic
CCN6
Duplication
(splice donor variant)
Progressive pseudorheumatoid dysplasia
GPathogenic
CCN6
(E102fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
CCN6
(C78R)
Single nucleotide variant
(missense variant +1 more)
Progressive pseudorheumatoid dysplasia
GPathogenic
CCN6
(C52* +1 more)
Single nucleotide variant
(nonsense +1 more)
Progressive pseudorheumatoid dysplasia
+2 more
GPathogenic/Likely pathogenic
CCN6
(W331*)
Single nucleotide variant
(nonsense +1 more)
Progressive pseudorheumatoid dysplasia
GPathogenic
CCN6
(C145Y)
Single nucleotide variant
(missense variant +1 more)
Progressive pseudorheumatoid dysplasia
GPathogenic
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