| | | Single nucleotide variant (missense variant) | Lissencephaly +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Lissencephaly | |
| | | Single nucleotide variant (missense variant) | Lissencephaly +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Complex cortical dysplasia with other brain malformations 7 | |
| | | Single nucleotide variant (missense variant) | Lissencephaly | |
| | | Single nucleotide variant (missense variant) | Lissencephaly | |
| | | Single nucleotide variant (missense variant) | Lissencephaly | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple benign circumferential skin creases on limbs 1 +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (splice donor variant) | not provided | |
| | | Deletion (frameshift variant) | Lissencephaly | |
| | | Single nucleotide variant (nonsense) | Lissencephaly | |
| | | Single nucleotide variant (missense variant) | Norman-Roberts syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Lissencephaly | |
| | | Single nucleotide variant (nonsense) | Lissencephaly | |
| | | Single nucleotide variant (missense variant) | Tubulinopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Tubulinopathy +3 more | |
| | | Single nucleotide variant (missense variant) | Tubulinopathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tubulinopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Tubulinopathy +3 more | |
| | | Single nucleotide variant (missense variant) | Lissencephaly | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Lissencephaly +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Lissencephaly | |
| | | Single nucleotide variant (missense variant) | Lissencephaly | |
| | | Single nucleotide variant (missense variant) | Lissencephaly | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 13 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Lissencephaly | |
| | | Single nucleotide variant (missense variant) | Lissencephaly | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy with lower extremity predominance +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 13 | |
| | | Single nucleotide variant (missense variant) | Lissencephaly | |
| | | Single nucleotide variant (splice donor variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Lissencephaly | |
| | | Single nucleotide variant (nonsense) | Lissencephaly | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Lissencephaly | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Lissencephaly | |
| | | Microsatellite (frameshift variant) | Lissencephaly | |
| | | Deletion (frameshift variant) | Lissencephaly | |
| | | Single nucleotide variant (missense variant) | Lissencephaly | |
| | | Duplication (frameshift variant) | Lissencephaly | |
| | | Single nucleotide variant (nonsense) | Lissencephaly due to LIS1 mutation +1 more | |
| | | Single nucleotide variant (missense variant) | Lissencephaly | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Baraitser-winter syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nonsyndromic hearing loss 20 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Lissencephaly | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Lissencephaly | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion | Lissencephaly | |
| | | Deletion | Lissencephaly | |
| | | Deletion | Lissencephaly | |