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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A8
(A403V +2 more)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+3 more
GLikely pathogenic
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GUncertain significance