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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPG5
(W1149*)
Single nucleotide variant
(nonsense)
Syndromic retinitis pigmentosa
GPathogenic
EPG5
(S870C)
Single nucleotide variant
(missense variant)
Syndromic retinitis pigmentosa
GLikely pathogenic