U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE6B
(R100H)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
PDE6B
(E129K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PDE6B, PDE6B-AS1
(F247I)
Single nucleotide variant
(missense variant +1 more)
Congenital stationary night blindness autosomal dominant 2
+3 more
GConflicting classifications of pathogenicity
PDE6B, PDE6B-AS1
(Q298* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
PDE6B
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 40
GUncertain significance
PDE6B
(L527P +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PDE6B
(Y196C +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 40
GUncertain significance
PDE6B
(N258fs +2 more)
Deletion
(frameshift variant)
Congenital stationary night blindness autosomal dominant 2
GPathogenic
PDE6B
(Q652* +2 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
PDE6B
(D718N +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 40
+3 more
GConflicting classifications of pathogenicity
PDE6B
Single nucleotide variant
(splice donor variant)
not provided
+5 more
GPathogenic
Format
Items per page
Sort by
Choose Destination