Total 20 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 Likely 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 No Assertion Criteria Provided
CA121880 rs_28934591

1 SubmittersRCV000012875

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 SubmittersRCV000012877RCV005089239

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.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

4 SubmittersRCV000517382RCV000995564RCV001570971RCV004758032

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
Apparent mineralocorticoid excess
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA8110828 rs_45619232

4 SubmittersRCV002894563RCV005019420RCV003167859RCV004587382

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