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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYB5R3
(K234N +2 more)
Single nucleotide variant
(missense variant)
Deficiency of cytochrome-b5 reductase
GUncertain significance
CYB5R3
(R169C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity