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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NHP2, RMND5B
(H132Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
Dyskeratosis congenita, autosomal recessive 2
+1 more
GUncertain significance
ADAMTS2, ARL10
+90 more
Copy number gain
not provided
GPathogenic