| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC117125587, MAST1 (E195del) | Microsatellite (inframe_deletion) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +1 more | GConflicting classifications of pathogenicity |
| | LOC117125587, MAST1 (D237E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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