| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Nephrotic Syndrome (NPHS2) | proteinuria,hypoalbuminemia,hyperlipidemia etc | Autosomal Recessive | 1q25.2 | Deletion | NPHS2 | 704del9 | Leu236Lysfs*3 | Frame shift mutation & PTC | Hameed et al., 2015/2015 |
| Nephrotic Syndrome Type 2 | proteinuria,hypoalbuminemia,etc | Autosomal Recessive | 1q25.2 | Deletion | NPHS2 | 704del9 | Leu236Lysfs*3 | Frame shift mutation & PTC | Hameed et al., 2015/2015 |
| Nephrotic Syndrome Type 2 | proteinuria,hypoalbuminemia,etc | Autosomal Recessive | 1q25.2 | Missense | NPHS2 | 755G>A | Arg229Gln | Amino Acid Substitution | Abid et al., 2012/2012 |
| Nephrotic Syndrome Type 2 | proteinuria,hypoalbuminemia,etc | Autosomal Recessive | 1q25.2 | Missense | NPHS2 | 1090C>T | Peo341Ser | Amino Acid Substitution | Abid et al., 2012/2012 |
| Nephrotic Syndrome Type 2 | proteinuria,hypoalbuminemia,etc | Autosomal Recessive | 1q25.2 | Missense | NPHS2 | 378G>C | Lys126Asn | Amino Acid Substitution | Abid et al., 2012/2012 |
| Nephrotic Syndrome Type 2 | proteinuria,hypoalbuminemia,etc | Autosomal Recessive | 1q25.2 | Missense | NPHS2 | 779T>A | Val260Glu | Amino Acid Substitution | Abid et al., 2012/2012 |
