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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPS, ATF2
+150 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
PDE11A
Microsatellite
(inframe_insertion)
Pigmented nodular adrenocortical disease, primary, 2
+1 more
GBenign
PDE11A
(V441M +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE11A
(R423G +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PDE11A, PDE11A-AS1
(P465fs +3 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
PDE11A, PDE11A-AS1
(F344S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE11A, PDE11A-AS1
(D332E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE11A, PDE11A-AS1
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
PDE11A
(T202fs +3 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
PDE11A
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
PDE11A
(D251N +3 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PDE11A
(R152T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE11A
(A122P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
PDE11A
(M195fs +2 more)
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PDE11A
(R163W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE11A
(Q124* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PDE11A
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
PDE11A
(R79* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
PDE11A
(R307* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE11A
(D305V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE11A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
PDE11A
(R184Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
PDE11A
(P166L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PDE11A
(R154fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
PDE11A
(G77R)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
PDE11A
(T58fs)
Deletion
(frameshift variant +1 more)
Pigmented nodular adrenocortical disease, primary, 2
+3 more
GConflicting classifications of pathogenicity
PDE11A
(R52T)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
PDE11A
(Q46fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GUncertain significance
PDE11A
(R17fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
PDE11A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
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