| | PARD6G, PARD6G-AS1 (G275V) | Single nucleotide variant (missense variant) | not specified | |
| | PARD6G, PARD6G-AS1 (A274T) | Single nucleotide variant (missense variant) | not specified | |
| | PARD6G, PARD6G-AS1 (A108S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | PARD6G, PARD6G-AS1 (H358D) | Single nucleotide variant (missense variant) | not specified | |
| | PARD6G, PARD6G-AS1 (G343R) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | PARD6G, PARD6G-AS1 (N327S) | Single nucleotide variant (missense variant) | not specified | |
| | PARD6G, PARD6G-AS1 (F288V) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Deletion of long arm of chromosome 18 | |
| | | Copy number loss | not provided | |
| | PARD6G, PARD6G-AS1 (V256L) | Single nucleotide variant (missense variant) | not specified | |
| | PARD6G, PARD6G-AS1 (I303V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130062804, PARD6G +1 more (V374F) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | Deletion of long arm of chromosome 18 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | PARD6G, PARD6G-AS1 (P309R) | Single nucleotide variant (missense variant) | not specified | |
| | PARD6G, PARD6G-AS1 (R337W) | Single nucleotide variant (missense variant) | not specified | |
| | PARD6G, PARD6G-AS1 (D271E) | Single nucleotide variant (missense variant) | not specified | |
| | PARD6G, PARD6G-AS1 (L360V) | Single nucleotide variant (missense variant) | not specified | |
| | PARD6G, PARD6G-AS1 (R181C) | Single nucleotide variant (missense variant) | not specified | |
| | PARD6G, PARD6G-AS1 (G125V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | PARD6G, PARD6G-AS1 (G272R) | Single nucleotide variant (missense variant) | not specified | |
| | PARD6G, PARD6G-AS1 (L121R) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Deletion of long arm of chromosome 18 | |
| | | Copy number gain | Trisomy 18 | |
| | LINC01544, LINC01879 +430 more | Deletion | Deletion of long arm of chromosome 18 | |
| | LINC01922, LINC01927 +279 more | Deletion | Nystagmus +10 more | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | LINC-ROR, LINC00683 +80 more | Copy number loss | not provided | |
| | LINC01415, LINC01879 +85 more | Copy number gain | Global developmental delay | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | FBXO15, LINC01879 +27 more | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Neurodevelopmental disorder | |
| | | Deletion | Deletion of long arm of chromosome 18 | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Intestinal malrotation | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |