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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASL, LOC129998526
(E4fs)
Duplication
(frameshift variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
(R12Q)
Single nucleotide variant
(missense variant)
ASL-related disorder
+3 more
GPathogenic/Likely pathogenic
ASL
(R113Q)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GPathogenic/Likely pathogenic
ASL
(V178M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
ASL
(R191W)
Single nucleotide variant
(missense variant +1 more)
Argininosuccinate lyase deficiency
+1 more
GConflicting classifications of pathogenicity
ASL
(Q286R +1 more)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
+1 more
GPathogenic
ASL
(R379C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ASL
(T417fs +2 more)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 4C
GPathogenic
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