| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | COL4A3, LOC129935730 (M1L) | Single nucleotide variant (missense variant +1 more) | Alport syndrome +2 more | GPathogenic/Likely pathogenic |
| | COL4A3, LOC129935730 (M1T) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive Alport syndrome | |
| | | Duplication (inframe_insertion) | Autosomal recessive Alport syndrome | |
Click to view in NCBI Gene