| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Duplication (nonsense) | Severe X-linked intellectual disability, Gustavson type | |
| | | Single nucleotide variant (missense variant +2 more) | Severe X-linked intellectual disability, Gustavson type | |
| | LOC126863330, RBMX (D312del) | Microsatellite (inframe deletion +2 more) | RBMX-related disorder | |
| | LOC126863330, RBMX (P351R) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Duplication (intron variant +1 more) | Syndromic X-linked intellectual disability Shashi type | |
| | LOC126863330, RBMX (R369C) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | LOC126863330, RBMX (D333Y) | Single nucleotide variant (missense variant +2 more) | Syndromic X-linked intellectual disability Shashi type | |
| | | Insertion (intron variant +1 more) | CIC-DUX Sarcoma | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified | |
| | LOC126863330, RBMX (E346fs) | Deletion (frameshift variant +2 more) | Syndromic X-linked intellectual disability Shashi type | |
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