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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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-AS1, PDE6B
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
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