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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPF3
(E274del +1 more)
Microsatellite
(inframe_deletion +1 more)
Retinitis pigmentosa 18
GUncertain significance
PRPF3
(A367P +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 18
GLikely pathogenic
PRPF3
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRPF3
(T167I +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 18
GUncertain significance
PRPF3
(D294Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 18
GPathogenic
PRPF3
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 18
GUncertain significance
PRPF3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
PRPF3
(A489D +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 18
GPathogenic
PRPF3
(P493S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
PRPF3
(T494M +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
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