| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Trigonocephaly 2 +5 more | GConflicting classifications of pathogenicity |
| | FREM1, LOC126860582 (P888L) | Single nucleotide variant (missense variant +1 more) | not specified | |
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