| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935480, LOC129935481 +1299 more | Copy number gain | See cases | |
| | LOC129935841, LOC129935842 +1148 more | Copy number gain | See cases | |
| | LOC129935871, LOC129935872 +986 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Duplication (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Deletion (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Deletion (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Deletion (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Deletion (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Microsatellite (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 +1 more | |
| | | Deletion (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant pseudohypoaldosteronism type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Pseudohypoaldosteronism type 2E | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without autism or seizures | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without autism or seizures | |
| | | Deletion (frameshift variant) | not provided | |