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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ8
(S422L)
Single nucleotide variant
(missense variant)
KCNJ8-related condition
+4 more
GBenign/Likely benign
KCNJ8
(T128fs)
Insertion
(frameshift variant)
not provided
GUncertain significance
RECQL, RERG
+85 more
Copy number loss
not provided
GPathogenic
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