Links from MedGen
Items: 15
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +1 more) | Seckel syndrome 6 | |
| | | Single nucleotide variant (intron variant) | Seckel syndrome 6 | |
| | | Deletion (nonsense +2 more) | Seckel syndrome 6 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Seckel syndrome 6 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Seckel syndrome 6 | |
| | | Single nucleotide variant (nonsense +1 more) | Seckel syndrome 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Seckel syndrome 6 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Seckel syndrome 6 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Duplication (nonsense +2 more) | Seckel syndrome 6 | |
| | | Single nucleotide variant (splice acceptor variant) | Seckel syndrome 6 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Seckel syndrome 6 | |
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