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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A8
(S362fs +2 more)
Deletion
(frameshift variant)
Intellectual disability
GPathogenic
SLC6A8
(R514* +2 more)
Single nucleotide variant
(nonsense)
Creatine transporter deficiency
GPathogenic