| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Renal cell carcinoma, Xp11-associated | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | TFE3-Associated Neurodevelopmental disorder | |
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