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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTC
(R40H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
OTC
(D41V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTC
(K46R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign
OTC
(Q69*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
OTC
(L76F)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
OTC
(K80E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
OTC
Single nucleotide variant
(intron variant)
OTC-related condition
+3 more
GBenign/Likely benign
OTC
Deletion
(intron variant)
not specified
+1 more
GBenign
OTC
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
OTC
(A128P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTC
Duplication
(nonsense)
not provided
GPathogenic
OTC
(R141Q)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
+1 more
GPathogenic
OTC
(I157T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTC
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
OTC
(L191R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTC
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
OTC
(P225L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
OTC
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
OTC
(T242N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTC
(Q270E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OTC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
OTC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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