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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPAS1
(M368I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
EPAS1
(E548*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance