Links from MedGen
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Complex lethal osteochondrodysplasia | |
| | | Single nucleotide variant (intron variant) | Complex lethal osteochondrodysplasia +1 more | |
| | | Single nucleotide variant (nonsense) | Complex lethal osteochondrodysplasia | |
| | LOC129992296, TAPT1 (L46R) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Complex lethal osteochondrodysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Complex lethal osteochondrodysplasia | |
| | | Single nucleotide variant (splice acceptor variant) | Complex lethal osteochondrodysplasia | |
Click to view in NCBI Gene