Links from MedGen
Items: 19
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | 3-M syndrome | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | 3-M syndrome | |
| | | Deletion (inframe_deletion) | 3-M syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | 3M syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not provided +1 more | |
| | | Microsatellite (frameshift variant) | 3-M syndrome | |
| | | Single nucleotide variant (missense variant) | 3-M syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | 3-M syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Deletion (5 prime UTR variant) | 3-M syndrome | |
| | | Duplication (5 prime UTR variant) | 3-M syndrome | |
| | | Deletion (5 prime UTR variant) | 3-M syndrome | |
| | | Deletion (5 prime UTR variant) | 3-M syndrome | |
| | | Insertion (3 prime UTR variant) | 3-M syndrome | |
| | | Single nucleotide variant (nonsense) | 3-M syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | 3-M syndrome | |
Click to view in NCBI Gene