| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | RASopathy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CACTIN, CACTIN-AS1 (K722R) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CACTIN, CACTIN-AS1 (D579E) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CACTIN, CACTIN-AS1 (P503R) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | CACTIN, CACTIN-AS1 (E471Q) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | CACTIN, CACTIN-AS1 (E475G) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CACTIN, CACTIN-AS1 (K611R) | Single nucleotide variant (missense variant) | not specified | |
| | CACTIN, CACTIN-AS1 (H711Q) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | CACTIN, CACTIN-AS1 (Q488L) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CACTIN, CACTIN-AS1 (V517A) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CACTIN, CACTIN-AS1 (K611Q) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CACTIN, CACTIN-AS1 (R733C) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Internal malformations | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC121852974, LOC125371451 +193 more | Copy number loss | See cases | |
| | CACTIN, CACTIN-AS1 +79 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130063246, LOC130063247 +810 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116276498, LOC121627842 +687 more | Copy number gain | See cases | |