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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPF4
(V5I)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 70
GUncertain significance
PRPF4
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
PRPF4
(D260N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
PRPF4
Microsatellite
not provided
+1 more
GUncertain significance
PRPF4
(P315L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
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