| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ATIC, FN1 (D2100N +16 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | FN1, LOC126806497 (P1290S +1 more) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
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