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Links from MedGen

Items: 1 to 100 of 1724

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPS1
(P1125L +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(W152S +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
Single nucleotide variant
(splice acceptor variant)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
(T6I +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Deletion
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
(Q329K +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital hyperammonemia, type I
GUncertain significance
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
(A918fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GPathogenic
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
(N970D +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
(I161V +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
(G443D +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital hyperammonemia, type I
GUncertain significance
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
(R1100H +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Duplication
(intron variant)
Congenital hyperammonemia, type I
GBenign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
(D1315fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GPathogenic
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(splice acceptor variant)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
(L1219M +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
(M254I +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital hyperammonemia, type I
GUncertain significance
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Deletion
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
+1 more
GLikely benign
CPS1
(M792T +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(synonymous variant +1 more)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
CPS1
Single nucleotide variant
(intron variant)
Congenital hyperammonemia, type I
GLikely benign
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