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Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPS1
(Q154* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(Y162* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(R233C +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital hyperammonemia, type I
GConflicting classifications of pathogenicity
CPS1
(E455* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(L485fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(K497* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(V518fs +1 more)
Indel
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(G524fs +1 more)
Microsatellite
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(S537* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(V584fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(Y590* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(G594fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(S597* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(L609fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(Q619* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(C644* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pulmonary hypertension, neonatal, susceptibility to
+1 more
GPathogenic/Likely pathogenic
CPS1
(S673fs +1 more)
Microsatellite
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(L691* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(E714* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GPathogenic/Likely pathogenic
CPS1
(V715fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(R718* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(L734* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(E807* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(T824fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(E845fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(Y852* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(K869fs +1 more)
Insertion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(Y872* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(K875* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(L878* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(E909* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(S913* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(K919* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(E925* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(Q927* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(Y951* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(Y959* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(F971fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(C981* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(C1006* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(V1013fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(Y1044* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(C1049* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(G1057* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(K1100* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(K1107* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(E1117* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(K1120* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(E1153* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GPathogenic/Likely pathogenic
CPS1
(V1170fs +1 more)
Indel
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(E1171fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(V1181fs +1 more)
Indel
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(G1182fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(G1204* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(Q1213* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
+1 more
GLikely pathogenic
CPS1
(E1221* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(C1256* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(G1272fs +1 more)
Insertion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(F1275fs +1 more)
Indel
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(M1312fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(W1315* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(R1326fs +1 more)
Microsatellite
(frameshift variant +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(K1356* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(Q1367* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
CPS1
(T1391M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CPS1
(K1425* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital hyperammonemia, type I
GLikely pathogenic
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