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Links from MedGen

Items: 1 to 100 of 612

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTC
(G39V)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
(K289fs)
Deletion
(frameshift variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(G283V)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(5 prime UTR variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(M206T)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(F324S)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(Q285H)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(M335T)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(V337I)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(Q348R)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(K153E)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(L95F)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(I194V)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(N258S)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(I159V)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(T230I)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(E252D)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(N121S)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(G119C)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(A135V)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(S267N)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(L166S)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(P319S)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(D344H)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(stop lost)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(H168Y)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(T343A)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GConflicting classifications of pathogenicity
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(L124F)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(L31P)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(M268I)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
Deletion
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GBenign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Duplication
(intron variant)
Ornithine carbamoyltransferase deficiency
GBenign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(S123R)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GBenign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GBenign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(P108R)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(I160M)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
Deletion
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(V315I)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
Deletion
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(H214R)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(R40L)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
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