| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | See cases | |
| | FANCA, LOC130059837 (S890fs) | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | FANCA, LOC130059837 (E886D) | Single nucleotide variant (missense variant) | FANCA-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
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