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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A8
(L296S +2 more)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
(S302R +2 more)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance