| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Microsatellite | AHNAK-related disorder | |
| | AHNAK, LOC126861227 (N40D) | Single nucleotide variant (missense variant) | not specified | |
| | AHNAK, LOC126861227 (G47R) | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Megacolon | |
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