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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTLL5
(R479*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
TTLL5
(R737*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
TTLL5
(S771*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
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