Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr3:49168194
- GRCh38:
- Chr3:49130761
| LAMB2 | G339S | not provided, Diffuse mesangial sclerosis, Pierson syndrome,
LAMB2-related infantile-onset nephrotic syndrome | Uncertain significance
(May 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:227983422
- GRCh38:
- Chr2:227118706
| COL4A4 | G143V | Diffuse mesangial sclerosis, Autosomal recessive Alport syndrome | Conflicting interpretations of pathogenicity
(May 18, 2022) | criteria provided, conflicting interpretations |