Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | Down syndrome | |
| | | Single nucleotide variant (intron variant) | Down syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia +5 more | |
| | | Microsatellite (frameshift variant) | Down syndrome +2 more | |
| | | Single nucleotide variant (non-coding transcript variant) | Down syndrome | |
| | | Single nucleotide variant (nonsense) | GATA1-related disorder +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia +5 more | |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +6 more | |
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