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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CERKL
(P261fs +2 more)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
CERKL
(R257* +2 more)
Single nucleotide variant
(nonsense +2 more)
Retinitis pigmentosa 26
+8 more
GPathogenic/Likely pathogenic
CERKL
(K200*)
Single nucleotide variant
(nonsense +2 more)
not provided
+2 more
GPathogenic
CERKL
(I141fs)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa
+1 more
GLikely pathogenic
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