Total 55 pathogenic variants reported for Pseudohypoaldosteronism type 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter) SNV
Germline		 Chr4:148435252 Pathogenic Autosomal dominant pseudohypoaldosteronism type 1
Autism spectrum disorder		 Criteria Provided
Single Submitter
 CA119730 rs_121912562

2 SubmittersRCV000009086RCV000754683
NM_000901.5(NR3C2):c.2771T>C (p.Leu924Pro) SNV
Germline		 Chr4:148114132 Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA119734 rs_121912563

2 SubmittersRCV000009090RCV001804719
NM_000901.5(NR3C2):c.1935C>A (p.Cys645Ter) SNV
Germline		 Chr4:148194825 Pathogenic Autosomal dominant pseudohypoaldosteronism type 1 No Assertion Criteria Provided
 CA119736 rs_121912564

1 SubmittersRCV000009093
NM_000901.5(NR3C2):c.2327A>G (p.Gln776Arg) SNV
Germline		 Chr4:148154589 Pathogenic Autosomal dominant pseudohypoaldosteronism type 1 No Assertion Criteria Provided
 CA119738 rs_121912565

1 SubmittersRCV000009094
NM_000901.5(NR3C2):c.1897G>A (p.Gly633Arg) SNV
Germline		 Chr4:148259978 Pathogenic Autosomal dominant pseudohypoaldosteronism type 1 No Assertion Criteria Provided
 CA119740 rs_121912566

1 SubmittersRCV000009095
NM_000901.5(NR3C2):c.2936T>C (p.Leu979Pro) SNV
Germline		 Chr4:148081363 Pathogenic Autosomal dominant pseudohypoaldosteronism type 1 No Assertion Criteria Provided
 CA119742 rs_121912567

1 SubmittersRCV000009096
NM_000901.5(NR3C2):c.488C>G (p.Ser163Ter) SNV
Germline		 Chr4:148436373 Pathogenic Autosomal dominant pseudohypoaldosteronism type 1 No Assertion Criteria Provided
 CA119744 rs_121912568

1 SubmittersRCV000009097
NM_000901.5(NR3C2):c.2839C>T (p.Arg947Ter) SNV
Germline		 Chr4:148081460 Pathogenic Autosomal dominant pseudohypoaldosteronism type 1
Pseudohyperaldosteronism type 2
Autosomal dominant pseudohypoaldosteronism type 1		 Criteria Provided
Single Submitter
 CA119746 rs_121912569

2 SubmittersRCV000009098RCV002496310
NM_000901.5(NR3C2):c.1308T>A (p.Cys436Ter) SNV
Germline		 Chr4:148435553 Pathogenic Autosomal dominant pseudohypoaldosteronism type 1 No Assertion Criteria Provided
 CA119748 rs_121912570

1 SubmittersRCV000009099
NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter) SNV
Germline		 Chr4:148154899 Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1 Criteria Provided
Single Submitter
 CA119750 rs_121912571

2 SubmittersRCV000009100
NM_000901.5(NR3C2):c.2024C>G (p.Ser675Ter) SNV
Germline		 Chr4:148154892 Pathogenic Autosomal dominant pseudohypoaldosteronism type 1 No Assertion Criteria Provided
 CA119752 rs_121912572

1 SubmittersRCV000009101
NM_000901.5(NR3C2):c.2453C>T (p.Ser818Leu) SNV
Germline		 Chr4:148152526 Pathogenic Autosomal dominant pseudohypoaldosteronism type 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA119754 rs_121912573

2 SubmittersRCV000009102RCV003555981
NM_000901.5(NR3C2):c.2915A>G (p.Glu972Gly) SNV
Germline		 Chr4:148081384 Pathogenic Autosomal dominant pseudohypoaldosteronism type 1 No Assertion Criteria Provided
 CA119757 rs_121912574

1 SubmittersRCV000009103
NM_003590.5(CUL3):c.*2272T>C SNV
Germline		 Chr2:224471973 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10612582 rs_556914502

2 SubmittersRCV000380730RCV001141958RCV002274986
NM_003590.5(CUL3):c.*2130A>G SNV
Germline		 Chr2:224472115 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10612590 rs_555995940

2 SubmittersRCV000292532RCV001143759RCV002274987
NM_003590.5(CUL3):c.*3665T>A SNV
Germline		 Chr2:224470580 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E		 Criteria Provided
Conflicting Classifications
 CA10612909 rs_374191606

1 SubmittersRCV000371517RCV001143652
NM_003590.5(CUL3):c.*89A>T SNV
Germline		 Chr2:224474156 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E		 Criteria Provided
Conflicting Classifications
 CA10612934 rs_192166927

1 SubmittersRCV000393904RCV001140228
NM_003590.5(CUL3):c.*3753T>C SNV
Germline		 Chr2:224470492 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E		 Criteria Provided
Conflicting Classifications
 CA10614351 rs_558805673

1 SubmittersRCV000370481RCV001143650
NM_003590.5(CUL3):c.*294A>G SNV
Germline		 Chr2:224473951 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2E
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10614375 rs_532967850

2 SubmittersRCV000371433RCV001140225RCV003311765
NM_000901.5(NR3C2):c.739A>T (p.Arg247Trp) SNV
Germline		 Chr4:148436122 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3100414 rs_149902988

2 SubmittersRCV000395090RCV003736740
NM_017415.3(KLHL3):c.*2360G>A SNV
Germline		 Chr5:137619738 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D		 Criteria Provided
Conflicting Classifications
 CA10619065 rs_533076689

1 SubmittersRCV000356476RCV001153999
NM_017415.3(KLHL3):c.*1583C>T SNV
Germline		 Chr5:137620515 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D		 Criteria Provided
Conflicting Classifications
 CA10619068 rs_554048189

1 SubmittersRCV000350076RCV001154858
NM_017415.3(KLHL3):c.*299G>A SNV
Germline		 Chr5:137621799 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D		 Criteria Provided
Conflicting Classifications
 CA10619084 rs_539132895

1 SubmittersRCV000293639RCV001154113
NM_017415.3(KLHL3):c.1021+5G>A SNV
Germline		 Chr5:137639855 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3422320 rs_183499982

2 SubmittersRCV000366474RCV001156624RCV003718222
NM_000901.5(NR3C2):c.2087C>T (p.Pro696Leu) SNV
Germline		 Chr4:148154829 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3100176 rs_368322580

2 SubmittersRCV000262756RCV004021941
NM_017415.3(KLHL3):c.*4066C>T SNV
Germline		 Chr5:137618032 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D		 Criteria Provided
Conflicting Classifications
 CA10620201 rs_544519958

1 SubmittersRCV000391622RCV001153902
NM_017415.3(KLHL3):c.*790G>A SNV
Germline		 Chr5:137621308 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D		 Criteria Provided
Conflicting Classifications
 CA10620231 rs_572765305

1 SubmittersRCV000303268RCV001152838
NM_017415.3(KLHL3):c.*224G>T SNV
Germline		 Chr5:137621874 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D		 Criteria Provided
Conflicting Classifications
 CA10620234 rs_536807069

1 SubmittersRCV000350908RCV001154114
NM_017415.3(KLHL3):c.*141C>T SNV
Germline		 Chr5:137621957 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D		 Criteria Provided
Conflicting Classifications
 CA10622704 rs_189064290

1 SubmittersRCV000279955RCV001154117
NM_017415.3(KLHL3):c.756G>A (p.Thr252=) SNV
Germline		 Chr5:137658278 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D		 Criteria Provided
Conflicting Classifications
 CA3422390 rs_143617205

1 SubmittersRCV000278015RCV001151153
NM_017415.3(KLHL3):c.-303G>C SNV
Germline		 Chr5:137735949 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D		 Criteria Provided
Conflicting Classifications
 CA10622737 rs_567542768

1 SubmittersRCV000367355RCV001156727
NM_017415.3(KLHL3):c.*1651C>T SNV
Germline		 Chr5:137620447 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D		 Criteria Provided
Conflicting Classifications
 CA10622780 rs_577834025

1 SubmittersRCV000292776RCV001154857
NM_017415.3(KLHL3):c.*39G>A SNV
Germline		 Chr5:137622059 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D		 Criteria Provided
Conflicting Classifications
 CA3422096 rs_762735618

1 SubmittersRCV000399262RCV001154119
NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter) SNV
Germline		 Chr4:148194809 Pathogenic Condition: not provided
Autosomal dominant pseudohypoaldosteronism type 1
Pseudohyperaldosteronism type 2
Autosomal dominant pseudohypoaldosteronism type 1
NR3C2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA358428661 rs_1131691921

4 SubmittersRCV000493937RCV001332610RCV001535946RCV004535554
NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys) SNV
Germline		 Chr2:224557750 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant pseudohypoaldosteronism type 1
NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553535841

4 SubmittersRCV000677281RCV000987041RCV001352922
NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter) SNV
Germline		 Chr4:148114148 Pathogenic/Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1
NR3C2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553986377

2 SubmittersRCV000761320RCV004702396
NM_000901.5(NR3C2):c.2657T>G (p.Leu886Arg) SNV
Germline		 Chr4:148114246 Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1 Criteria Provided
Single Submitter
 rs_1560928649

1 SubmittersRCV000761556
NM_000901.5(NR3C2):c.1380T>A (p.Phe460Leu) SNV
Germline		 Chr4:148435481 Conflicting classifications of pathogenicity Inborn genetic diseases
Autosomal dominant pseudohypoaldosteronism type 1		 Criteria Provided
Conflicting Classifications
 rs_149589666

2 SubmittersRCV002557248RCV001150586
NM_000901.5(NR3C2):c.1272A>G (p.Ser424=) SNV
Germline		 Chr4:148435589 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Condition: not provided
NR3C2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_368453653

3 SubmittersRCV001150588RCV002559452RCV004538376
NM_000901.5(NR3C2):c.1757+6T>C SNV
Germline		 Chr4:148435098 Conflicting classifications of pathogenicity not specified
Autosomal dominant pseudohypoaldosteronism type 1		 Criteria Provided
Conflicting Classifications
 rs_184268528

2 SubmittersRCV004587051RCV001149082
NM_000901.5(NR3C2):c.2767C>T (p.Gln923Ter) SNV
Germline		 Chr4:148114136 Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1 Criteria Provided
Single Submitter
 rs_1553986374

1 SubmittersRCV001375996
NM_000901.5(NR3C2):c.1799C>A (p.Ser600Ter) SNV
Germline		 Chr4:148260076 Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1 Criteria Provided
Single Submitter
 rs_2149871784

1 SubmittersRCV001823793
NM_000901.5(NR3C2):c.2657T>A (p.Leu886His) SNV
Germline		 Chr4:148114246 Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1 Criteria Provided
Single Submitter

1 SubmittersRCV002288415
NM_000901.5(NR3C2):c.2194C>T (p.Arg732Ter) SNV
Germline		 Chr4:148154722 Pathogenic Condition: not provided
Autosomal dominant pseudohypoaldosteronism type 1		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002505932RCV003320392