| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC105371520, TMEM107 (L121fs +4 more) | Deletion (frameshift variant +1 more) | Meckel syndrome 13 | |
| | LOC105371520, TMEM107 (F106del +1 more) | Microsatellite (inframe_deletion +1 more) | Orofaciodigital syndrome | |
| | | Single nucleotide variant (intron variant +1 more) | Meckel syndrome 13 | |
| | LOC105371520, TMEM107 (E45G) | Single nucleotide variant (missense variant) | not provided | |
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