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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A8
(R77S)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GLikely pathogenic
SLC6A8
Deletion
(inframe_indel)
Creatine transporter deficiency
GLikely pathogenic
BMX, CXorf38
+821 more
Copy number gain
Klinefelter syndrome
GPathogenic
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