Links from MedGen
Items: 16
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Cystic fibrosis +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Diaphyseal dysplasia +6 more | |
| | | Single nucleotide variant (missense variant) | Diaphyseal dysplasia | |
| | | Single nucleotide variant (missense variant) | Diaphyseal dysplasia | |
| | | Single nucleotide variant (missense variant) | Diaphyseal dysplasia | |
| | | Single nucleotide variant (intron variant) | Diaphyseal dysplasia +4 more | |
| | | Single nucleotide variant (missense variant) | Diaphyseal dysplasia | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Diaphyseal dysplasia | |
| | LOC130064510, TGFB1 (Y81H) | Single nucleotide variant (missense variant) | Diaphyseal dysplasia | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Diaphyseal dysplasia | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Diaphyseal dysplasia | |
Click to view in NCBI Gene