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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE6B
(C44W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PDE6B
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
PDE6B
(R100H)
Single nucleotide variant
(missense variant)
PDE6B-related condition
+3 more
GConflicting classifications of pathogenicity
PDE6B
(E105K)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GConflicting classifications of pathogenicity
PDE6B
(P125A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
PDE6B
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
PDE6B
(S162L)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GUncertain significance
PDE6B
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PDE6B
(Y219H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PDE6B
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PDE6B, PDE6B-AS1
(R265Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE6B, PDE6B-AS1
(E271K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PDE6B, PDE6B-AS1
(Q298* +1 more)
Single nucleotide variant
(nonsense +1 more)
Retinal dystrophy
+3 more
GPathogenic
PDE6B, PDE6B-AS1
(G302D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE6B, PDE6B-AS1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
PDE6B, PDE6B-AS1
Duplication
(splice acceptor variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE6B, PDE6B-AS1
(V41I)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign
PDE6B
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
PDE6B
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
PDE6B
Insertion
(intron variant)
Retinitis Pigmentosa, Recessive
+2 more
GBenign/Likely benign
PDE6B
(R472H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE6B
(L129fs +2 more)
Deletion
(frameshift variant)
PDE6B-related condition
+2 more
GPathogenic/Likely pathogenic
PDE6B
(G562D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDE6B
(G594V +2 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GUncertain significance
PDE6B
(H620fs +2 more)
Deletion
(frameshift variant)
Retinal dystrophy
+1 more
GPathogenic
PDE6B
(K687N +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDE6B
(D718N +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PDE6B
Single nucleotide variant
(splice donor variant)
PDE6B-related disorder
+6 more
GPathogenic
PDE6B
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
PDE6B
(V782M +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE6B
Single nucleotide variant
(splice acceptor variant +1 more)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
PDE6B
(T850A +4 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
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