| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +3 more) | Familial steroid-resistant nephrotic syndrome with sensorineural deafness | |
| | COQ6, ENTPD5 (R318* +8 more) | Single nucleotide variant (nonsense +2 more) | Familial steroid-resistant nephrotic syndrome with sensorineural deafness +1 more | GPathogenic/Likely pathogenic |
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