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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPF3
(P123A)
Single nucleotide variant
(5 prime UTR variant +2 more)
Retinal dystrophy
GUncertain significance
PRPF3
(L223F +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
PRPF3
(L235F +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
PRPF3
(I259V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PRPF3
Duplication
(splice acceptor variant)
not provided
GBenign
PRPF3
(P493S +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+1 more
GPathogenic
PRPF3
(T494M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
PRPF3
(I560M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PRPF3
(K662R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PRPF3
(A538V +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
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