| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Nephrotic Syndrome Type 1 | proteinuria,hypoalbuminemia,etc | Autosomal Recessive | 19q13.12 | Nonsense | NPHS1 | 3478C>T | Arg1160* | Premature Termination | Abid et al., 2012/2012 |
| Nephrotic Syndrome Type 1 | proteinuria,hypoalbuminemia,etc | Autosomal Recessive | 19q13.12 | Missense | NPHS1 | 3059G>T | Gly1020Val | Amino Acid Substitution | Abid et al., 2012/2012 |
| Nephrotic Syndrome Type 1 | proteinuria,hypoalbuminemia,etc | Autosomal Recessive | 19q13.12 | Missense | NPHS1 | 3426A>G | Thr1182Ala | Amino Acid Substitution | Abid et al., 2012/2012 |
| Nephrotic Syndrome Type 1 | proteinuria,hypoalbuminemia,etc | Autosomal Recessive | 19q13.12 | Missense | NPHS1 | 710T>C | Leu237Pro | Amino Acid Substitution | Abid et al., 2012/2012 |
| Nephrotic Syndrome Type 1 | proteinuria,hypoalbuminemia,etc | Autosomal Recessive | 19q13.12 | Missense | NPHS1 | 2734G>A | Ala912Thr | Amino Acid Substitution | Abid et al., 2012/2012 |
| Nephrotic Syndrome Type 1 | proteinuria,hypoalbuminemia,etc | Autosomal Recessive | 19q13.12 | Duplication | NPHS1 | 2673dupCA | Frame shift mutation | Abid et al., 2012/2012 | |
| Nephrotic Syndrome Type 1 | proteinuria,hypoalbuminemia,etc | Autosomal Recessive | 19q13.12 | Missense | NPHS1 | 2600G>A | Gly867Pro | Amino Acid Substitution | Abid et al., 2012/2012 |
