Total 47 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
Autosomal dominant pseudohypoaldosteronism type 1
Pseudohyperaldosteronism type 2		 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_000901.5(NR3C2):c.739A>T (p.Arg247Trp) SNV
Germline		 Chr4:148436122 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3100414 rs_149902988

3 SubmittersRCV000395090RCV003736740RCV005682275
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
Pseudohyperaldosteronism type 2
Autosomal dominant pseudohypoaldosteronism type 1		 Criteria Provided
Conflicting Classifications
 CA3100176 rs_368322580

3 SubmittersRCV000262756RCV004021941RCV005398475
NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter) SNV
Germline		 Chr4:148194809 Pathogenic Condition: not provided
Autosomal dominant pseudohypoaldosteronism type 1
Autosomal dominant pseudohypoaldosteronism type 1
Pseudohyperaldosteronism type 2
NR3C2-related disorder
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA358428661 rs_1131691921

6 SubmittersRCV000493937RCV001332610RCV001535946RCV004535554RCV005682293
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
 CA351130799 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
 CA358427396 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
 CA358427630 rs_1560928649

1 SubmittersRCV000761556
NM_000901.5(NR3C2):c.90C>T (p.Ser30=) SNV
Germline		 Chr4:148436771 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant pseudohypoaldosteronism type 1
Pseudohyperaldosteronism type 2		 Criteria Provided
Conflicting Classifications
 CA3100517 rs_757033341

2 SubmittersRCV000910038RCV005036251
NM_000901.5(NR3C2):c.1380T>A (p.Phe460Leu) SNV
Germline		 Chr4:148435481 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3100318 rs_149589666

3 SubmittersRCV001150586RCV002557248RCV006612634
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
 CA3100331 rs_368453653

3 SubmittersRCV001150588RCV002559452RCV004538376
NM_000901.5(NR3C2):c.405G>C (p.Gln135His) SNV
Germline		 Chr4:148436456 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Autosomal dominant pseudohypoaldosteronism type 1
Pseudohyperaldosteronism type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3100470 rs_138893620

3 SubmittersRCV001146303RCV002491433RCV006612628
NM_000901.5(NR3C2):c.1757+6T>C SNV
Germline		 Chr4:148435098 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
not specified
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA3100247 rs_184268528

4 SubmittersRCV001149082RCV004587051RCV005093643RCV005913901
NM_000901.5(NR3C2):c.2767C>T (p.Gln923Ter) SNV
Germline		 Chr4:148114136 Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1 Criteria Provided
Single Submitter
 CA358427366 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
 CA358243244 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
 CA358427632 rs_1560928649

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
 CA358426556 rs_1553990750

3 SubmittersRCV002505932RCV003320392
NM_000901.5(NR3C2):c.2151C>T (p.Pro717=) SNV
Germline		 Chr4:148154765 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant pseudohypoaldosteronism type 1
Pseudohyperaldosteronism type 2		 Criteria Provided
Conflicting Classifications
 CA442002318 rs_1378121578

2 SubmittersRCV003825838RCV005030289
NM_000901.5(NR3C2):c.2799+1G>A SNV
Germline		 Chr4:148114103 Pathogenic/Likely pathogenic NR3C2-related disorder
Cervical cancer
Condition: not provided
Inborn genetic diseases
Autosomal dominant pseudohypoaldosteronism type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA358427293 rs_2530538343

6 SubmittersRCV004532127RCV005939006RCV006251386RCV004369801RCV005863894
NM_000901.5(NR3C2):c.1954C>T (p.Arg652Ter) SNV
Germline		 Chr4:148194806 Pathogenic Pseudohyperaldosteronism type 2
Autosomal dominant pseudohypoaldosteronism type 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005037462
NM_000901.5(NR3C2):c.1701G>T (p.Ser567=) SNV
Germline		 Chr4:148435160 Conflicting classifications of pathogenicity not specified
Pseudohyperaldosteronism type 2
Autosomal dominant pseudohypoaldosteronism type 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV006454582RCV005027171
NM_000901.5(NR3C2):c.1051G>A (p.Gly351Arg) SNV
Germline		 Chr4:148435810 Conflicting classifications of pathogenicity Pseudohyperaldosteronism type 2
Autosomal dominant pseudohypoaldosteronism type 1
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005027187RCV005241073
NM_000901.5(NR3C2):c.53G>A (p.Arg18Gln) SNV
Germline		 Chr4:148436808 Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1
Pseudohyperaldosteronism type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005027199RCV006489233
NM_000901.5(NR3C2):c.2453C>G (p.Ser818Trp) SNV
Germline		 Chr4:148152526 Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005230890