"Revvity Omics, Revvity"[submitter] AND "CA5A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1652614	NM_001739.2(CA5A):c.788G>A (p.Arg263His)	CA5A (R263H)	Single nucleotide variant (missense variant +2 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GConflicting classifications of pathogenicity
Select item 388645	NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)	CA5A (E241K)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1494683	NM_001739.2(CA5A):c.544G>A (p.Val182Met)	CA5A (V182M)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 793186	NM_001739.2(CA5A):c.543C>T (p.Gly181=)	CA5A	Single nucleotide variant (synonymous variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GConflicting classifications of pathogenicity
Select item 798226	NM_001739.2(CA5A):c.172G>A (p.Val58Met)	CA5A (V58M)	Single nucleotide variant (missense variant +1 more)	CA5A-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2439622	NM_001739.2(CA5A):c.83T>A (p.Met28Lys)	CA5A (M28K)	Single nucleotide variant (missense variant +1 more)	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance

ClinVar