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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPF31
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PRPF31
(R304C)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
PRPF31
Deletion
(intron variant)
not provided
GLikely benign
PRPF31
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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