Links from MedGen
Items: 17
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Stickler syndrome | |
| | | Single nucleotide variant (nonsense) | Stickler syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Stickler syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stickler syndrome +1 more | |
| | | Deletion (splice acceptor variant) | Stickler syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome +2 more | |
| | | Deletion (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Alstrom syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | not provided +2 more | |
| | | Duplication (inframe_insertion) | Stickler syndrome | |
| | | Insertion (frameshift variant) | Stickler syndrome | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Wagner syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Stickler syndrome, type I, nonsyndromic ocular +15 more | |
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