Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Fanconi renotubular syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Fanconi renotubular syndrome 3 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Fanconi renotubular syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Fanconi renotubular syndrome 3 | |
| | | Duplication (frameshift variant) | Fanconi renotubular syndrome 3 | |
| | | Deletion (5 prime UTR variant +1 more) | Fanconi renotubular syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | EHHADH-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | EHHADH-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | EHHADH-related condition +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Fanconi renotubular syndrome 3 | |
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