Total 18 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	9 SubmittersRCV000440896 RCV000681608
NM_001739.2(CA5A):c.556C>T (p.Leu186Phe)	SNV Germline	Chr16:87901974	Conflicting classifications of pathogenicity	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency CA5A-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8223394	rs_375321548	5 SubmittersRCV000702520 RCV003907956 RCV004704190 RCV002536358
NM_001739.2(CA5A):c.94C>T (p.Arg32Ter)	SNV Germline	Chr16:87936357	Pathogenic	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Criteria Provided Multiple Submitters No Conflicts	CA8223640	rs_767402215	2 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	CA8223438	rs_534860826	2 SubmittersRCV002548405
NM_001739.2(CA5A):c.172G>A (p.Val58Met)	SNV Germline	Chr16:87926916	Conflicting classifications of pathogenicity	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency CA5A-related disorder	Criteria Provided Conflicting Classifications	CA8223599	rs_200539625	3 SubmittersRCV002550567 RCV003906110
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	CA397040921	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	CA8223446	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	CA8223254	rs_201195769	2 SubmittersRCV002158420
NM_001739.2(CA5A):c.283A>G (p.Ile95Val)	SNV Germline	Chr16:87926805	Conflicting classifications of pathogenicity	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8223561	rs_565675541	2 SubmittersRCV002629557 RCV005537542
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	CA397039920	rs_1391715924	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	CA8223452	rs_369629290	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	CA397040843	rs_1232431574	1 SubmittersRCV003230787
NM_001739.2(CA5A):c.459+1G>C	SNV Germline	Chr16:87904785	Likely pathogenic	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005150880