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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCH1
(V204I)
Single nucleotide variant
(missense variant)
GTP cyclohydrolase I deficiency
+3 more
GConflicting classifications of pathogenicity
GCH1
(P95L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance