| | | Microsatellite (inframe_deletion) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | LOC112543452, MAST1 (E772D) | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | LOC112543452, MAST1 (P771T) | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +1 more | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | LOC117125587, MAST1 (C231R) | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +1 more | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | LOC112543452, MAST1 (W766R) | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | LOC112543452, MAST1 (E787D) | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +1 more | |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | 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 | |
| | | 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 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (inframe_deletion) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | | Microsatellite (inframe_deletion) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | |
| | MAST1, LOC117125587 (E195del) | Microsatellite (inframe_deletion) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +1 more | GConflicting classifications of pathogenicity |