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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTC
(K46R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
+2 more
GBenign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
+1 more
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Hyperammonemia
+4 more
GConflicting classifications of pathogenicity
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
+1 more
GBenign/Likely benign
OTC
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
OTC
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
OTC
(Q270R)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
+3 more
GBenign/Likely benign
OTC
(E273del)
Microsatellite
(inframe_deletion)
Ornithine carbamoyltransferase deficiency
GPathogenic/Likely pathogenic
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