Total 22 pathogenic variants reported for Apparent mineralocorticoid excess

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys)	SNV Germline	Chr16:67436100	Pathogenic	Apparent mineralocorticoid excess	Criteria Provided Single Submitter	CA121879	rs_121917780	4 SubmittersRCV000012874
NM_000196.4(HSD11B2):c.637C>T (p.Arg213Cys)	SNV Germline	Chr16:67436115	Pathogenic	Apparent mineralocorticoid excess Condition: not provided	Criteria Provided Single Submitter	CA121880	rs_28934591	2 SubmittersRCV000012875 RCV006270337
NM_000196.4(HSD11B2):c.1009C>T (p.Arg337Cys)	SNV Germline	Chr16:67436794	Pathogenic	Apparent mineralocorticoid excess	No Assertion Criteria Provided	CA121881	rs_121917781	1 SubmittersRCV000012876
NM_000196.4(HSD11B2):c.623G>A (p.Arg208His)	SNV Germline	Chr16:67436101	Pathogenic/Likely pathogenic	Apparent mineralocorticoid excess Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA121882	rs_28934592	4 SubmittersRCV000012877 RCV005089239
NM_000196.4(HSD11B2):c.835C>T (p.Arg279Cys)	SNV Germline	Chr16:67436620	Pathogenic	Apparent mineralocorticoid excess	No Assertion Criteria Provided	CA121885	rs_28934594	1 SubmittersRCV000012879
NM_000196.4(HSD11B2):c.680C>T (p.Pro227Leu)	SNV Germline	Chr16:67436264	Pathogenic	Apparent mineralocorticoid excess, mild	No Assertion Criteria Provided	CA121886	rs_121917782	1 SubmittersRCV000012881
NM_000196.4(HSD11B2):c.667G>A (p.Asp223Asn)	SNV Germline	Chr16:67436251	Conflicting classifications of pathogenicity	Apparent mineralocorticoid excess Condition: not provided	Criteria Provided Conflicting Classifications	CA121888	rs_121917833	3 SubmittersRCV000012883 RCV002512996
NM_000196.4(HSD11B2):c.1012T>C (p.Tyr338His)	SNV Germline	Chr16:67436797	Pathogenic	Apparent mineralocorticoid excess	No Assertion Criteria Provided	CA129702	rs_387907117	1 SubmittersRCV000024127
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp)	SNV Germline	Chr16:67435628	Conflicting classifications of pathogenicity	not specified Apparent mineralocorticoid excess Condition: not provided HSD11B2-related disorder	Criteria Provided Conflicting Classifications	CA396277387	rs_1555518481	5 SubmittersRCV000517382 RCV000995564 RCV001570971 RCV004758032
NM_000196.4(HSD11B2):c.983C>T (p.Ala328Val)	SNV Germline	Chr16:67436768	Likely pathogenic	Apparent mineralocorticoid excess	Criteria Provided Multiple Submitters No Conflicts	CA396282760	rs_1453036708	2 SubmittersRCV001281140
NM_000196.4(HSD11B2):c.1184T>C (p.Leu395Pro)	SNV Germline	Chr16:67436969	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases not specified Apparent mineralocorticoid excess	Criteria Provided Conflicting Classifications	CA8110828	rs_45619232	4 SubmittersRCV002894563 RCV003167859 RCV004587382 RCV005019420
NM_000196.4(HSD11B2):c.501C>T (p.Asn167=)	SNV Germline	Chr16:67435979	Conflicting classifications of pathogenicity	Apparent mineralocorticoid excess not specified Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV005009989 RCV006269984 RCV006489117
NM_000196.4(HSD11B2):c.662C>T (p.Ala221Val)	SNV Germline	Chr16:67436140	Likely pathogenic	Apparent mineralocorticoid excess	Criteria Provided Single Submitter			1 SubmittersRCV005009993
NM_000196.4(HSD11B2):c.665-1G>A	SNV Germline	Chr16:67436248	Likely pathogenic	Apparent mineralocorticoid excess	Criteria Provided Single Submitter			1 SubmittersRCV005009994
NM_000196.4(HSD11B2):c.665-1G>C	SNV Germline	Chr16:67436248	Likely pathogenic	Apparent mineralocorticoid excess	Criteria Provided Single Submitter			1 SubmittersRCV005009996