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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A8
(C401* +2 more)
Single nucleotide variant
(nonsense)
Creatine transporter deficiency
GLikely pathogenic
ABCB7, ABCD1
+510 more
Copy number gain
not provided
GPathogenic
ABCB7, ABCD1
+514 more
Copy number gain
See cases
GPathogenic
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