Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | SCOTT SYNDROME | |
| | | Single nucleotide variant (missense variant +1 more) | SCOTT SYNDROME | |
| | | Single nucleotide variant (nonsense) | SCOTT SYNDROME | |
| | | Duplication (frameshift variant) | SCOTT SYNDROME | |
| | | Single nucleotide variant (splice donor variant) | SCOTT SYNDROME | |
| | ANO6, LOC130007724 +1 more | Deletion | SCOTT SYNDROME | |
| | | Single nucleotide variant (nonsense) | SCOTT SYNDROME | |
| | | Microsatellite (frameshift variant) | SCOTT SYNDROME | |
| | | Single nucleotide variant (splice donor variant) | SCOTT SYNDROME | |
| | | Single nucleotide variant (splice donor variant) | ANO6-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | ANO6-related condition +2 more | |
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