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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA4
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
ABCA4
Single nucleotide variant
(intron variant)
Severe early-childhood-onset retinal dystrophy
+3 more
GPathogenic
KIAA1549
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
GLikely benign
RPGR
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
GPathogenic
CACNA1F
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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