| - GRCh37:
- Chr1:179526366
- GRCh38:
- Chr1:179557231
| NPHS2 | | Idiopathic nephrotic syndrome, Familial idiopathic steroid-resistant nephrotic syndrome, Nephrotic syndrome, type 2
| Pathogenic/Likely pathogenic
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:32414301
- GRCh38:
- Chr11:32392755
| WT1 | G205V, G422V, G405V, G188V, G26V, G364V, G420V, G400V, G168V, G381V | Familial idiopathic steroid-resistant nephrotic syndrome, not provided | Likely pathogenic
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:36333389
- GRCh38:
- Chr19:35842487
| NPHS1 | R800C | Finnish congenital nephrotic syndrome, Familial idiopathic steroid-resistant nephrotic syndrome, not provided
| Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:36322658
- GRCh38:
- Chr19:35831756
| NPHS1 | S1058L | not provided, Congenital nephrotic syndrome | Conflicting interpretations of pathogenicity
(Oct 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:32413514
- GRCh38:
- Chr11:32391968
| WT1 | | Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome,
Frasier syndrome, not provided, Nephrotic syndrome, type 4,
Frasier syndrome | Pathogenic/Likely pathogenic
(Dec 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:32413513
- GRCh38:
- Chr11:32391967
| WT1 | | Wilms tumor 1, 11p partial monosomy syndrome, Drash syndrome,
Frasier syndrome, Familial idiopathic steroid-resistant nephrotic syndrome, Wilms tumor 1,
11p partial monosomy syndrome, Mesothelioma, malignant, Drash syndrome,
Meacham syndrome, Frasier syndromeAniridia 1,
Nephrotic syndrome, type 4, not provided, Nephrotic syndrome, type 4,
Frasier syndrome, Drash syndrome, ...see more | Pathogenic
(May 2, 2023) | criteria provided, multiple submitters, no conflicts |