| | | Single nucleotide variant (missense variant) | Isolated focal cortical dysplasia type II | |
| | | Single nucleotide variant (missense variant) | Isolated focal cortical dysplasia type II | |
| | | Single nucleotide variant (missense variant) | Isolated focal cortical dysplasia type II | |
| | MTOR, MTOR-AS1 (M1119I +1 more) | Single nucleotide variant (missense variant) | MTOR-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | MTOR-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | MTOR, MTOR-AS1 (C1534Y +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | MTOR, MTOR-AS1 (A1577G +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome | |
| | | Single nucleotide variant (missense variant) | Isolated focal cortical dysplasia type II | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ANGPTL7, LOC129388452 +1 more (R289C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | |
| | | Single nucleotide variant (synonymous variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ANGPTL7, LOC129388452 +1 more (K290R) | Single nucleotide variant (intron variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MTOR, MTOR-AS1 (I1564V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MTOR, MTOR-AS1 (R1612* +1 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | MTOR, MTOR-AS1 (A1577V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MTOR, MTOR-AS1 (Q1617R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (frameshift variant) | Isolated focal cortical dysplasia type II +1 more | |
| | MTOR, MTOR-AS1 (E1182Q +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | MTOR-AS1, MTOR (T1160S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | MTOR, MTOR-AS1 (E1197Q +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | MTOR, MTOR-AS1 (R1122Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MTOR, MTOR-AS1 (H1553R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | MTOR, MTOR-AS1 (E1185A +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | MTOR, MTOR-AS1 (C1593S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | MTOR, MTOR-AS1 (R1196Q +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | MTOR-related condition +1 more | GConflicting classifications of pathogenicity |
| | MTOR, MTOR-AS1 (M1578V +1 more) | Indel (missense variant) | not provided | |
| | MTOR, MTOR-AS1 (M1529I +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | MTOR, MTOR-AS1 (G1127E +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (nonsense) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |