| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Oculotrichoanal syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
| | | Duplication (frameshift variant +1 more) | Oculotrichoanal syndrome | |
| | FREM1, LOC126860582 (V908*) | Single nucleotide variant (missense variant +1 more) | BNAR syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculotrichoanal syndrome | |
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