| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | FILIP1, LOC101928540 (G25S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FILIP1, LOC101928540 (R57* +1 more) | Single nucleotide variant (nonsense) | Neuromuscular disorder, congenital, with dysmorphic facies | |
| | FILIP1, LOC101928540 (A11T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FILIP1, LOC101928540 (R47K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FILIP1, LOC126859714 (I142T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FILIP1, LOC126859714 (M103V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FILIP1, LOC101928540 (R57G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FILIP1, LOC101928540 (V55D +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FILIP1, LOC126859714 (P147L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FILIP1, LOC101928540 (G53R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FILIP1, LOC126859714 (R128W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
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