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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OAT
(I229T +3 more)
Single nucleotide variant
(missense variant)
Ornithine aminotransferase deficiency
+1 more
GUncertain significance
OAT
(R226Q +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
OAT
(V219L +3 more)
Single nucleotide variant
(missense variant)
Ornithine aminotransferase deficiency
+1 more
GUncertain significance
OAT
(L403P +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
OAT
(L89F +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC121815974, OAT
(R79C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
OAT
(V22M +1 more)
Single nucleotide variant
(missense variant +2 more)
Ornithine aminotransferase deficiency
+1 more
GConflicting classifications of pathogenicity
OAT
(W156R +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
OAT
(E122K)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
OAT
(V119I)
Single nucleotide variant
(missense variant +2 more)
Ornithine aminotransferase deficiency
+1 more
GUncertain significance
OAT
(N118D)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GLikely benign
OAT
(V105A)
Single nucleotide variant
(missense variant +2 more)
Ornithine aminotransferase deficiency
+1 more
GConflicting classifications of pathogenicity
OAT
(P95S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
OAT
(G36A)
Single nucleotide variant
(missense variant +1 more)
Ornithine aminotransferase deficiency
+2 more
GConflicting classifications of pathogenicity
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