| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Heyn-Sproul-Jackson syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Heyn-Sproul-Jackson syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Heyn-Sproul-Jackson syndrome | |
| | | Deletion (splice donor variant) | Heyn-Sproul-Jackson syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Heyn-Sproul-Jackson syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Acute myeloid leukemia +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Tatton-Brown-Rahman overgrowth syndrome +3 more | |
| | | Deletion (inframe_deletion +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Heyn-Sproul-Jackson syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Acute myeloid leukemia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
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