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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASS1
(R86H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ASS1
Single nucleotide variant
(splice acceptor variant)
Citrullinemia
+2 more
GPathogenic
ASS1
(W179R)
Single nucleotide variant
(missense variant)
ASS1-related condition
+3 more
GPathogenic
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia type I
+1 more
GPathogenic/Likely pathogenic
ASS1
(V263M)
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
(T284I)
Single nucleotide variant
(missense variant)
Citrullinemia type I
+1 more
GLikely pathogenic
ASS1
(R304W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia type I
+3 more
GPathogenic/Likely pathogenic
ASS1
(G362V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
ASS1
(G390R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
Citrullinemia type I
GPathogenic
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