| | | Duplication | not provided | |
| | LINC02168, LINC02169 +675 more | Copy number gain | See cases | |
| | LOC130059466, LOC130059467 +1738 more | Copy number gain | See cases | |
| | | Deletion | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant +1 more) | Bilateral frontoparietal polymicrogyria | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bilateral frontoparietal polymicrogyria | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bilateral frontoparietal polymicrogyria | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Bilateral frontoparietal polymicrogyria | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR 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 (5 prime UTR variant +1 more) | Bilateral frontoparietal polymicrogyria | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bilateral frontoparietal polymicrogyria | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bilateral frontoparietal polymicrogyria | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | 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 (5 prime UTR variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Bilateral frontoparietal polymicrogyria | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Bilateral frontoparietal polymicrogyria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Bilateral frontoparietal polymicrogyria +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Bilateral frontoparietal polymicrogyria | |
| | | Single nucleotide variant (intron variant) | Bilateral frontoparietal polymicrogyria | |
| | | 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) | Bilateral frontoparietal polymicrogyria +1 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | ADGRG1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Bilateral frontoparietal polymicrogyria +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +4 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |