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Links from MedGen

Items: 1 to 100 of 553

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
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
(T49I)
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
(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
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(T49S)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(M205R)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(N258K)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(D344V)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(splice acceptor variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
Single nucleotide variant
(splice donor variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
(G188A)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
(I159M)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
(E239D)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
(H214Q)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
+1 more
GUncertain significance
OTC
(C303F)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(M206I)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
(S146*)
Single nucleotide variant
(nonsense)
Ornithine carbamoyltransferase deficiency
GPathogenic
OTC
(S203P)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
Single nucleotide variant
(splice acceptor variant)
Ornithine carbamoyltransferase deficiency
GPathogenic
OTC
(D175Y)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
(Q285*)
Single nucleotide variant
(nonsense)
Ornithine carbamoyltransferase deficiency
GPathogenic
OTC
Indel
(inframe_indel)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
OTC
(P347R)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(H18N)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(Q171R)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Deletion
Ornithine carbamoyltransferase deficiency
GPathogenic
CYBB, DYNLT3
+5 more
Duplication
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC, RPGR
Duplication
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Deletion
Ornithine carbamoyltransferase deficiency
GPathogenic
OTC, RPGR
Deletion
Primary ciliary dyskinesia
+1 more
GPathogenic
OTC
(L177F)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
(E234G)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GBenign
OTC
(M288V)
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
(N11S)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GUncertain significance
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(G222S)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
Single nucleotide variant
(intron variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
OTC
(P347S)
Single nucleotide variant
(missense variant)
Ornithine carbamoyltransferase deficiency
GPathogenic
OTC
Single nucleotide variant
(synonymous variant)
Ornithine carbamoyltransferase deficiency
GLikely benign
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