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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CA5A
Deletion
(splice acceptor variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GPathogenic
CA5A
(E241K)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GPathogenic/Likely pathogenic
CA5A
(S233P)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GConflicting classifications of pathogenicity
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GConflicting classifications of pathogenicity
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