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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTC
(L42H)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(S123N)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(L173V)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GPathogenic
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