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Links from MedGen

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE11A, PDE11A-AS1
Single nucleotide variant
(intron variant)
Pigmented nodular adrenocortical disease, primary, 2
GLikely benign
PDE11A
Single nucleotide variant
(intron variant)
Pigmented nodular adrenocortical disease, primary, 2
+1 more
GLikely benign
PDE11A, PDE11A-AS1
(M368I +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A, PDE11A-AS1
(R364* +3 more)
Single nucleotide variant
(nonsense)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A, PDE11A-AS1
(T238A +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A
(H42fs)
Microsatellite
(frameshift variant +1 more)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A
(Y133* +2 more)
Single nucleotide variant
(nonsense)
Pigmented nodular adrenocortical disease, primary, 2
GLikely pathogenic
PDE11A
(P449Q +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A, PDE11A-AS1
(L335P +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A, PDE11A-AS1
(L320F +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A
(Q194fs +3 more)
Indel
(frameshift variant)
Pigmented nodular adrenocortical disease, primary, 2
GLikely pathogenic
PDE11A
(V148I +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A
Single nucleotide variant
(intron variant)
Pigmented nodular adrenocortical disease, primary, 2
GBenign
PDE11A
Single nucleotide variant
(intron variant)
Pigmented nodular adrenocortical disease, primary, 2
GBenign
PDE11A
Single nucleotide variant
(synonymous variant)
Pigmented nodular adrenocortical disease, primary, 2
GBenign
PDE11A
Single nucleotide variant
(intron variant)
Pigmented nodular adrenocortical disease, primary, 2
GBenign
PDE11A, PDE11A-AS1
Single nucleotide variant
(intron variant)
Pigmented nodular adrenocortical disease, primary, 2
GBenign
PDE11A
Single nucleotide variant
(intron variant)
Pigmented nodular adrenocortical disease, primary, 2
GBenign
PDE11A
Single nucleotide variant
(intron variant)
Pigmented nodular adrenocortical disease, primary, 2
GBenign
PDE11A
(Q171* +3 more)
Single nucleotide variant
(nonsense)
Pigmented nodular adrenocortical disease, primary, 2
GLikely pathogenic
PDE11A
(S174fs +2 more)
Deletion
(frameshift variant)
Pigmented nodular adrenocortical disease, primary, 2
GLikely pathogenic
PDE11A
(R184Q)
Single nucleotide variant
(missense variant +1 more)
Pigmented nodular adrenocortical disease, primary, 2
+1 more
GBenign
PDE11A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
PDE11A
Microsatellite
(inframe_insertion)
Pigmented nodular adrenocortical disease, primary, 2
+1 more
GBenign
PDE11A
(P165T)
Single nucleotide variant
(missense variant +1 more)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A
(I515T +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A
(Y300C +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A
(I194T +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE11A
(C304fs +3 more)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDE11A
(A439T +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
DSC2
(R375*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE11A
Duplication
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A
(R79* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
PDE11A
(S160* +3 more)
Single nucleotide variant
(nonsense)
Pigmented nodular adrenocortical disease, primary, 2
GPathogenic/Likely pathogenic
PDE11A
(R7fs)
Deletion
(frameshift variant)
Pigmented nodular adrenocortical disease, primary, 2
+1 more
GConflicting classifications of pathogenicity
PDE11A, PDE11A-AS1
(S313fs +3 more)
Deletion
(frameshift variant)
Pigmented nodular adrenocortical disease, primary, 2
GPathogenic/Likely pathogenic
PDE11A
(T58fs)
Deletion
(frameshift variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
PDE11A
(R307* +1 more)
Single nucleotide variant
(nonsense)
Pigmented nodular adrenocortical disease, primary, 2
+2 more
GConflicting classifications of pathogenicity
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