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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGO2, LOC126860545
(R196*)
Single nucleotide variant
(nonsense)
Lessel-Kreienkamp syndrome
GUncertain significance
AGO2, LOC126860545
Single nucleotide variant
(missense variant)
Lessel-Kreienkamp syndrome
GPathogenic