Links from MedGen
Items: 5
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:162336995
- GRCh38:
- Chr1:162367205
| NOS1AP | G125A, G415A, G420A | Nephrotic syndrome, type 22 | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:162335256
- GRCh38:
- Chr1:162365466
| NOS1AP | | Nephrotic syndrome, type 22, not provided | Benign
(Aug 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:162302804
- GRCh38:
- Chr1:162333014
| NOS1AP | | Nephrotic syndrome, type 22 | Pathogenic
(Apr 8, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr1:162302890
- GRCh38:
- Chr1:162333100
| NOS1AP | C143Y, C138Y | Nephrotic syndrome, type 22 | Pathogenic
(Apr 8, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr1:162326851
- GRCh38:
- Chr1:162357061
| NOS1AP | | Cardiac arrhythmia, Nephrotic syndrome, type 22, not provided
| Benign/Likely benign
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |