Links from MedGen
Items: 18
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Vitelliform macular dystrophy 2 +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Vitelliform macular dystrophy 2 +4 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +9 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Retinal dystrophy +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Retinal dystrophy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +6 more | |
| | FTH1, BEST1 (A195V +2 more) | Single nucleotide variant (missense variant +2 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +7 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +4 more | |
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