| | | Copy number loss | See cases | |
| | LOC130060143, LOC130060144 +963 more | Copy number gain | See cases | |
| | MIR22HG, MIR3183 +464 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130059866, LOC130059867 +499 more | Copy number loss | See cases | |
| | LOC130060077, LOC130060078 +911 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | LOC130060025, LOC130060026 +458 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130059934, LOC130059935 +243 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | CLUH, LOC105371490 +38 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125177406, LOC129390821 +9 more | Copy number gain | See cases | |
| | CLUH, LOC105371490 +11 more | Copy number gain | See cases | |
| | LOC129390821, LOC130059960 +7 more | Copy number gain | See cases | |
| | LOC125177406, LOC129390821 +8 more | Copy number gain | See cases | |
| | LOC125177406, LOC129390821 +7 more | Copy number gain | Autism spectrum disorder | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC125177406, LOC130059964 +3 more | Copy number loss | See cases | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Duplication (5 prime UTR variant) | Lissencephaly/Subcortical Band Heterotopia | |
| | | Deletion (5 prime UTR variant) | Lissencephaly/Subcortical Band Heterotopia | |
| | | Microsatellite (5 prime UTR variant) | Lissencephaly/Subcortical Band Heterotopia | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | See cases | GConflicting classifications of pathogenicity |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Lissencephaly due to LIS1 mutation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (5 prime UTR variant) | Lissencephaly/Subcortical Band Heterotopia | |
| | | Deletion | Lissencephaly due to LIS1 mutation | |
| | | Single nucleotide variant (missense variant +1 more) | Lissencephaly due to LIS1 mutation | |
| | | Single nucleotide variant (nonsense) | Lissencephaly | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (splice donor variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | PAFAH1B1-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Indel (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Lissencephaly due to LIS1 mutation | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Lissencephaly due to LIS1 mutation | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Lissencephaly due to LIS1 mutation | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (frameshift variant) | Lissencephaly due to LIS1 mutation | |
| | | Single nucleotide variant (nonsense) | Lissencephaly due to LIS1 mutation | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Lissencephaly due to LIS1 mutation | |
| | | Single nucleotide variant (missense variant) | Lissencephaly due to LIS1 mutation | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (splice donor variant) | not provided | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Lissencephaly due to LIS1 mutation | |
| | | 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 | |
| | | Deletion (intron variant) | Lissencephaly due to LIS1 mutation | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Lissencephaly due to LIS1 mutation +1 more | |