| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | LOC112543452, MAST1 (T765I) | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | MAST1, LOC112543452 (E785V) | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
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