Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC105371520, TMEM107 (T60I +1 more) | Single nucleotide variant (missense variant +1 more) | Orofaciodigital syndrome 16 | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome 13 +2 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome 16 +2 more | |
| | LOC105371520, TMEM107 (E45G) | Single nucleotide variant (missense variant) | not provided | |
| | LOC105371520, TMEM107 (F106del +1 more) | Microsatellite (inframe_deletion +1 more) | Orofaciodigital syndrome | |
Click to view in NCBI Gene