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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDHA1
(P250L +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely pathogenic
BMX, CXorf38
+821 more
Copy number gain
Klinefelter syndrome
GPathogenic