| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder, X-linked, syndromic, Pilorge type | |
| | FANCB, GLRA2 (R261C +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
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