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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP152
(W176*)
Single nucleotide variant
(nonsense)
Seckel syndrome 5
GLikely pathogenic
CEP152
(R115*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic