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Links from MedGen

Items: 1 to 100 of 327

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASS1
Deletion
(splice acceptor variant)
Citrullinemia type I
GLikely pathogenic
ASS1
Single nucleotide variant
(splice acceptor variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(Q138fs)
Deletion
(frameshift variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(Q40L)
Single nucleotide variant
(missense variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(S131fs)
Deletion
(frameshift variant)
Citrullinemia type I
GLikely pathogenic
ASS1
Single nucleotide variant
(splice donor variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(Q350fs)
Deletion
(frameshift variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(R100fs)
Deletion
(frameshift variant)
Citrullinemia type I
GPathogenic
ASS1
(P144R)
Single nucleotide variant
(missense variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(C331fs)
Indel
(frameshift variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(G90D)
Single nucleotide variant
(missense variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(R272L)
Single nucleotide variant
(missense variant)
Citrullinemia type I
GLikely pathogenic
ASS1
Deletion
(splice acceptor variant)
Citrullinemia type I
GLikely pathogenic
ASS1
Single nucleotide variant
(splice acceptor variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(E283fs)
Deletion
(frameshift variant)
Citrullinemia type I
GPathogenic
ASS1
(S134*)
Single nucleotide variant
(nonsense)
Citrullinemia type I
GLikely pathogenic
ASS1
(R95fs)
Deletion
(frameshift variant)
Citrullinemia type I
GLikely pathogenic
ASS1
Single nucleotide variant
(splice acceptor variant)
Citrullinemia type I
GPathogenic
ASS1
(W23*)
Single nucleotide variant
(nonsense)
Citrullinemia type I
GLikely pathogenic
ASS1
Single nucleotide variant
(splice donor variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(Y83fs)
Deletion
(frameshift variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(D303fs)
Deletion
(frameshift variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(E191Q)
Single nucleotide variant
(missense variant)
Citrullinemia type I
+1 more
GPathogenic/Likely pathogenic
ASS1
(Q311E)
Single nucleotide variant
(missense variant)
Citrullinemia type I
GUncertain significance
ASS1
(R272H)
Single nucleotide variant
(missense variant)
Citrullinemia type I
+1 more
GPathogenic
ASS1
(N197S)
Single nucleotide variant
(missense variant)
Citrullinemia type I
GUncertain significance
ASS1
(T91P)
Single nucleotide variant
(missense variant)
Citrullinemia type I
+1 more
GPathogenic
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia type I
+1 more
GPathogenic/Likely pathogenic
ASS1
(W23fs)
Deletion
(frameshift variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(F44fs)
Indel
(frameshift variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(K348*)
Single nucleotide variant
(nonsense)
Citrullinemia type I
GLikely pathogenic
ASS1
(Y207fs)
Indel
(frameshift variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(Y282fs)
Deletion
(frameshift variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(K165*)
Single nucleotide variant
(nonsense)
Citrullinemia type I
GLikely pathogenic
ASS1
(W145fs)
Deletion
(frameshift variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(Y207fs)
Indel
(frameshift variant)
Citrullinemia type I
GLikely pathogenic
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia type I
GUncertain significance
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia type I
+1 more
GUncertain significance
ASS1
Single nucleotide variant
(splice donor variant)
Citrullinemia type I
+1 more
GPathogenic
ASS1
(E298K)
Single nucleotide variant
(missense variant)
Citrullinemia
+1 more
GConflicting classifications of pathogenicity
ASS1
(A164T)
Single nucleotide variant
(missense variant)
Citrullinemia
+1 more
GUncertain significance
ASS1
Single nucleotide variant
(splice acceptor variant)
Citrullinemia, type II, adult-onset
+1 more
GPathogenic
ASS1
(V69A)
Single nucleotide variant
(missense variant)
Citrullinemia type I
+1 more
GConflicting classifications of pathogenicity
ASS1
(P96T)
Single nucleotide variant
(missense variant)
Citrullinemia type I
+1 more
GLikely pathogenic
ASS1
(M302V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ASS1
(E191*)
Single nucleotide variant
(nonsense)
Citrullinemia type I
GLikely pathogenic
ASS1
Single nucleotide variant
(intron variant)
not provided
GBenign
ASS1
Single nucleotide variant
(intron variant)
not provided
GBenign
ASS1
(K277fs)
Deletion
(frameshift variant)
Citrullinemia type I
GLikely pathogenic
ASS1
(K340*)
Single nucleotide variant
(nonsense)
Citrullinemia type I
GLikely pathogenic
ASS1
(M147L)
Single nucleotide variant
(missense variant)
Citrullinemia type I
GUncertain significance
ASS1
(L250F)
Single nucleotide variant
(missense variant)
Citrullinemia type I
GUncertain significance
ASS1
(G39R)
Single nucleotide variant
(missense variant)
Citrullinemia type I
+2 more
GUncertain significance
ASS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia type I
+1 more
GBenign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia type I
+1 more
GBenign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
(Q350*)
Single nucleotide variant
(nonsense)
Citrullinemia
+1 more
GPathogenic
ASS1
Single nucleotide variant
(splice acceptor variant)
Citrullinemia
GLikely pathogenic
ASS1
(A99T)
Single nucleotide variant
(missense variant)
Citrullinemia
GUncertain significance
ASS1
(A51T)
Single nucleotide variant
(missense variant)
Citrullinemia
GUncertain significance
ASS1
(N271fs)
Duplication
(frameshift variant)
Citrullinemia
+1 more
GPathogenic/Likely pathogenic
ASS1
(Y322C)
Single nucleotide variant
(missense variant)
Citrullinemia
GUncertain significance
ASS1
(P178L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GUncertain significance
ASS1
(Y83H)
Single nucleotide variant
(missense variant)
Citrullinemia
GUncertain significance
ASS1
Variation
(intron variant)
Citrullinemia type I
GBenign
ASS1
Variation
(intron variant)
Citrullinemia type I
GBenign
ASS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia type I
+1 more
GBenign/Likely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia type I
+1 more
GBenign/Likely benign
ASS1
(L160P)
Single nucleotide variant
(missense variant)
Citrullinemia
GLikely pathogenic
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia type I
GUncertain significance
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
(K277R)
Single nucleotide variant
(missense variant)
Citrullinemia type I
GPathogenic
ASS1
(R48G)
Single nucleotide variant
(missense variant)
Citrullinemia
GUncertain significance
ASS1
(R304Q)
Single nucleotide variant
(missense variant)
Citrullinemia
+1 more
GLikely pathogenic
ASS1
(A258T)
Single nucleotide variant
(missense variant)
Citrullinemia
GUncertain significance
ASS1
(M186V)
Single nucleotide variant
(missense variant)
Citrullinemia
GUncertain significance
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
(T208R)
Single nucleotide variant
(missense variant)
Citrullinemia
GUncertain significance
ASS1
Single nucleotide variant
(splice acceptor variant)
Citrullinemia
+1 more
GLikely pathogenic
ASS1
(V238I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ASS1
(T119I)
Single nucleotide variant
(missense variant)
Citrullinemia type I
+1 more
GPathogenic/Likely pathogenic
ASS1
(N237S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(splice donor variant)
Citrullinemia type I
GLikely pathogenic
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
+1 more
GConflicting classifications of pathogenicity
ASS1
Single nucleotide variant
Citrullinemia type I
GUncertain significance
ASS1
Single nucleotide variant
(3 prime UTR variant)
Citrullinemia type I
GUncertain significance
ASS1
Single nucleotide variant
(3 prime UTR variant)
Citrullinemia type I
GUncertain significance
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
+1 more
GConflicting classifications of pathogenicity
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
+1 more
GConflicting classifications of pathogenicity
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia type I
GUncertain significance
ASS1, LOC130002809
Single nucleotide variant
(5 prime UTR variant)
Citrullinemia type I
GLikely benign
ASS1, LOC130002809
Single nucleotide variant
(5 prime UTR variant)
Citrullinemia type I
GUncertain significance
ASS1
Single nucleotide variant
(5 prime UTR variant)
Citrullinemia type I
GUncertain significance
ASS1
(M276T)
Single nucleotide variant
(missense variant)
Citrullinemia
GUncertain significance
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia type I
+1 more
GPathogenic/Likely pathogenic
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