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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A8
(P31L)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
(V332fs +2 more)
Microsatellite
(frameshift variant)
Creatine transporter deficiency
GPathogenic