Total 14 pathogenic variants reported for Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro)	SNV Germline	Chr16:87891876	Conflicting classifications of pathogenicity	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA345528	rs_587777316	4 SubmittersRCV000114946 RCV003126499
NM_001739.2(CA5A):c.555G>A (p.Lys185=)	SNV Germline	Chr16:87902425	Conflicting classifications of pathogenicity	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA345529	rs_147623570	4 SubmittersRCV000114947 RCV000483966
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)	SNV Germline	Chr16:87891852	Pathogenic/Likely pathogenic	Condition: not provided Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Criteria Provided Multiple Submitters No Conflicts	CA8223304	rs_563971993	8 SubmittersRCV000440896 RCV000681608
NM_001739.2(CA5A):c.94C>T (p.Arg32Ter)	SNV Germline	Chr16:87936357	Pathogenic	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Criteria Provided Single Submitter		rs_767402215	1 SubmittersRCV000691071
NM_001739.2(CA5A):c.543C>T (p.Gly181=)	SNV Germline	Chr16:87902437	Conflicting classifications of pathogenicity	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Criteria Provided Conflicting Classifications		rs_534860826	2 SubmittersRCV002548405
NM_001739.2(CA5A):c.172G>A (p.Val58Met)	SNV Germline	Chr16:87926916	Conflicting classifications of pathogenicity	CA5A-related disorder Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Criteria Provided Conflicting Classifications		rs_200539625	3 SubmittersRCV003906110 RCV002550567
NM_001739.2(CA5A):c.580C>T (p.Gln194Ter)	SNV Germline	Chr16:87901950	Likely pathogenic	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Criteria Provided Single Submitter		rs_2055884613	1 SubmittersRCV001250192
NM_001739.2(CA5A):c.514G>T (p.Val172Leu)	SNV Germline	Chr16:87902466	Conflicting classifications of pathogenicity	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_142182110	2 SubmittersRCV001989697 RCV003170471
NM_001739.2(CA5A):c.788G>A (p.Arg263His)	SNV Germline	Chr16:87888259	Conflicting classifications of pathogenicity	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Criteria Provided Conflicting Classifications		rs_201195769	2 SubmittersRCV002158420
NM_001739.2(CA5A):c.683G>A (p.Trp228Ter)	SNV Germline	Chr16:87891890	Pathogenic	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002701032
NM_001739.2(CA5A):c.497A>G (p.Asn166Ser)	SNV Germline	Chr16:87902483	Conflicting classifications of pathogenicity	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002919158 RCV002922770
NM_001739.2(CA5A):c.618+1G>T	SNV Germline	Chr16:87901911	Likely pathogenic	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003230787