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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARX
(L491fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 1
GPathogenic
ARX
(I477fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 1
GPathogenic
ARX
(M1L)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 1
GLikely pathogenic
BMX, CXorf38
+821 more
Copy number gain
Klinefelter syndrome
GPathogenic
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