| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | LOC126861887, SUPT16H (R1033H) | Single nucleotide variant (missense variant) | SUPT16H-related condition | |
| | LOC126861887, SUPT16H (E1011del) | Microsatellite (inframe deletion) | SUPT16H-related condition | |
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