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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPF3
(R206Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
PRPF3
(I249T +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
PRPF3
(T300S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PRPF3
(R449G +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
PRPF3
(T494M +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
PRPF3
Indel
(splice donor variant)
Retinal dystrophy
GUncertain significance
PRPF3
(H376P +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GLikely pathogenic
PRPF3
(A387del +1 more)
Microsatellite
(inframe_deletion +1 more)
Retinal dystrophy
GUncertain significance
PRPF3
(N415S +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+1 more
GUncertain significance
PRPF3
(R641Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
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