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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A3
(R521W)
Single nucleotide variant
(missense variant)
Parkinsonism-dystonia, infantile
+1 more
GConflicting classifications of pathogenicity
SLC6A3
(T144M)
Single nucleotide variant
(missense variant)
Parkinsonism-dystonia, infantile
+2 more
GUncertain significance
SLC6A3
(V73I)
Single nucleotide variant
(missense variant)
Classic dopamine transporter deficiency syndrome
GUncertain significance
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