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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
+3 more
GBenign/Likely benign
ASS1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ASS1
(T119P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ASS1
Single nucleotide variant
(splice acceptor variant)
Citrullinemia
+2 more
GPathogenic
ASS1
(R157H)
Single nucleotide variant
(missense variant)
Citrullinemia
+2 more
GConflicting classifications of pathogenicity
ASS1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ASS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
+3 more
GBenign
ASS1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
ASS1
(A202E)
Single nucleotide variant
(missense variant)
Citrullinemia
+2 more
GConflicting classifications of pathogenicity
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
+2 more
GBenign
ASS1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ASS1
(V263M)
Single nucleotide variant
(missense variant)
Citrullinemia
+2 more
GPathogenic/Likely pathogenic
ASS1
(R265C)
Single nucleotide variant
(missense variant)
Citrullinemia
+2 more
GPathogenic/Likely pathogenic
ASS1
(R265H)
Single nucleotide variant
(missense variant)
Citrullinemia
+2 more
GPathogenic/Likely pathogenic
ASS1
(V269M)
Single nucleotide variant
(missense variant)
Citrullinemia
+2 more
GConflicting classifications of pathogenicity
ASS1
(R279Q)
Single nucleotide variant
(missense variant)
Citrullinemia
+2 more
GPathogenic/Likely pathogenic
ASS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ASS1
(E298G)
Single nucleotide variant
(missense variant)
Citrullinemia
+1 more
GUncertain significance
ASS1
(R304W)
Single nucleotide variant
(missense variant)
Citrullinemia
+2 more
GPathogenic
ASS1
(E305V)
Single nucleotide variant
(missense variant)
Citrullinemia
+1 more
GUncertain significance
ASS1
(R307H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
ASS1
(V321M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ASS1
(K355fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ASS1
(R363W)
Single nucleotide variant
(missense variant)
Citrullinemia
+2 more
GPathogenic/Likely pathogenic
ASS1
(R363Q)
Single nucleotide variant
(missense variant)
Citrullinemia
+2 more
GPathogenic/Likely pathogenic
ASS1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
+2 more
GConflicting classifications of pathogenicity
ASS1
(G390R)
Single nucleotide variant
(missense variant)
Citrullinemia
+3 more
GPathogenic/Likely pathogenic
ASS1
Single nucleotide variant
(splice acceptor variant)
Citrullinemia
+2 more
GPathogenic
ASS1
(L399R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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