Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (splice acceptor variant) | Friedreich ataxia 1 | |
| | | Microsatellite (intron variant) | Friedreich ataxia 1 | |
| | | Single nucleotide variant (intron variant) | Friedreich ataxia 1 | |
| | | Single nucleotide variant (missense variant) | Friedreich ataxia 1 +1 more | |
| | | Indel | Friedreich ataxia 1 | |
| | | Single nucleotide variant (missense variant) | Friedreich ataxia 1 | |
| | | Microsatellite (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Indel (inframe_indel) | Friedreich ataxia 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Friedreich ataxia 1 | |
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