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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASL
(R12Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
+1 more
GUncertain significance
ASL
(R94C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ASL
(R111Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ASL
Single nucleotide variant
(splice donor variant)
Argininosuccinate lyase deficiency
+1 more
GPathogenic
ASL
(P156L)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
+1 more
GConflicting classifications of pathogenicity
ASL
(R168C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ASL
(R168H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ASL
(V178M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
ASL
(R182*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
ASL
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
ASL
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
ASL
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ASL
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ASL
(R213* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ASL
(E214Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
+1 more
GConflicting classifications of pathogenicity
ASL
(S282R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASL
(Q286R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ASL
(Q326K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ASL
(Q326H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ASL
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ASL
(Q354* +2 more)
Single nucleotide variant
ASL-related condition
+2 more
GPathogenic
ASL
(R379C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ASL
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ASL
(G402W +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
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