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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTC1
(R987W)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita
+2 more
GPathogenic
CTC1
(R224*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic