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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
H6PD
(Y316* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
H6PD
(A505G +1 more)
Single nucleotide variant
(missense variant)
Cortisone reductase deficiency 1
GUncertain significance