| | LOC116276498, LOC121627842 +687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130063246, LOC130063247 +810 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CACTIN, CACTIN-AS1 +79 more | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130063123, S1PR4 (A17V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063123, S1PR4 (G19S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063123, S1PR4 (R23Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063123, S1PR4 (Y29C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063123, S1PR4 (G37R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063123, S1PR4 (R50Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063123, S1PR4 (S53L) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (G155R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (G155A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (V162I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (G177R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (R203C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (R203H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (G214S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (V215I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (Q231P) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (R239H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (A241V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (R248H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (V275F) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (C324R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (G333V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (R340W) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063124, S1PR4 (D352N) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130063125, S1PR4 (R372Q) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion | RASopathy | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ABHD17A, ADAMTSL5 +64 more | Duplication | Neurodevelopmental disorder | |
| | | Deletion | Internal malformations | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |