Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Meckel syndrome 13 +1 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome 16 +2 more | |
| | LOC105371520, TMEM107 (L121fs +4 more) | Deletion (frameshift variant +1 more) | Meckel syndrome 13 | |
| | | Single nucleotide variant (intron variant +1 more) | Meckel syndrome 13 | |
Click to view in NCBI Gene