| | | Copy number gain | See cases | |
| | LOC112935932, LOC112935963 +331 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129936094, LOC129936095 +647 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129936377, LOC129936378 +1111 more | Copy number gain | See cases | |
| | LOC110120630, LOC111429626 +608 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +307 more | Copy number gain | See cases | |
| | LOC129929025, LOC129929026 +190 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | LEOPARD syndrome 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | LEOPARD syndrome 2 +1 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | Noonan syndrome +1 more | |
| | | Microsatellite (3 prime UTR variant +1 more) | Noonan syndrome +1 more | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Noonan syndrome 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Noonan syndrome 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Dilated cardiomyopathy 1NN +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | LEOPARD syndrome 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | LEOPARD syndrome 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | LEOPARD syndrome 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | LEOPARD syndrome 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Noonan syndrome 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Noonan syndrome 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Noonan syndrome 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Noonan syndrome 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Noonan syndrome 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Noonan syndrome 5 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | LEOPARD syndrome 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Noonan syndrome 5 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | LEOPARD syndrome 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | LEOPARD syndrome 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Noonan syndrome 5 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | LEOPARD syndrome 2 +1 more | |
| | | Duplication | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (stop lost +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | RASopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy | |
| | | Single nucleotide variant (missense variant +1 more) | RASopathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Noonan syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1NN +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Deletion (inframe_indel +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Noonan syndrome 5 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy | |
| | | Single nucleotide variant (missense variant +1 more) | RASopathy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy | |
| | | Single nucleotide variant (missense variant +1 more) | RASopathy | |
| | | Single nucleotide variant (missense variant +1 more) | RASopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | RASopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1NN +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +3 more | |
| | | Insertion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | RASopathy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | RASopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | RASopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Noonan syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy | |