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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPF31
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31
(M59fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 11
GPathogenic
PRPF31
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 11
GUncertain significance
PRPF31
(T423M)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 11
+1 more
GUncertain significance
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