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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121815974, OAT
(R250P +3 more)
Single nucleotide variant
(missense variant)
Ornithine aminotransferase deficiency
GPathogenic
LOC121815974, OAT
(Y245C +3 more)
Single nucleotide variant
(missense variant)
Ornithine aminotransferase deficiency
GPathogenic
LOC121815974, OAT
(P241L +3 more)
Single nucleotide variant
(missense variant)
Ornithine aminotransferase deficiency
+1 more
GPathogenic/Likely pathogenic
LOC121815974, OAT
(A226V +3 more)
Single nucleotide variant
(missense variant)
Ornithine aminotransferase deficiency
+1 more
GPathogenic
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