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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129934069, SPR
(M1L)
Single nucleotide variant
(missense variant +1 more)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GLikely pathogenic
LOC129934069, SPR
(V38I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity