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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129934069, SPR
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
LOC129934069, SPR
(G6R)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
+1 more
GUncertain significance