Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Silver-Russell syndrome 1 | |
| | | Copy number gain | Silver-Russell syndrome 1 | |
| | | Deletion (intron variant) | Silver-Russell syndrome 1 | |
| | IGF2, INS-IGF2 (G34C +1 more) | Single nucleotide variant (missense variant +1 more) | Silver-Russell syndrome 3 +3 more | |
| | | Copy number gain | Silver-Russell syndrome 1 | |
| | | Insertion (splice donor variant) | Silver-Russell syndrome 1 | |
| | PLAG1, LOC126860395 (S147fs +1 more) | Deletion (frameshift variant) | Silver-russell syndrome 4 +1 more | |
| | IGF2, INS-IGF2 (Y26* +1 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Deletion (frameshift variant) | Silver-Russell syndrome 5 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | Silver-russell syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
Click to view in NCBI Gene