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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TULP1
(R367C +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 15
GLikely pathogenic
TULP1
Single nucleotide variant
(splice donor variant)
Leber congenital amaurosis 15
GPathogenic
TULP1
(R289Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TULP1
(E47*)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis 15
GLikely pathogenic
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