| | LOC130057927, LOC130057928 +1764 more | Copy number gain | See cases | |
| | MAP2K1, SNAPC5 (D303E +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | MAP2K1, SNAPC5 (L304V +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Cardiovascular phenotype | |
| | SNAPC5, MAP2K1 (Q354H +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | MAP2K1, SNAPC5 (M356V +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +2 more | |
| | MAP2K1, SNAPC5 (M308T +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy +1 more | |
| | | Indel (3 prime UTR variant +2 more) | not provided | |
| | | Microsatellite (3 prime UTR variant +2 more) | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | | Deletion (3 prime UTR variant +2 more) | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | | Deletion (3 prime UTR variant +2 more) | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | MAP2K1, SNAPC5 (H358Y +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | | Indel (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | MAP2K1, SNAPC5 (S316Y +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Cardiovascular phenotype | |
| | MAP2K1, SNAPC5 (S316F +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | MAP2K1, SNAPC5 (F323L +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | MAP2K1, SNAPC5 (A372V +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Cardiovascular phenotype | |
| | MAP2K1, SNAPC5 (L375I +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy +1 more | |
| | MAP2K1, SNAPC5 (S377F +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Cardiovascular phenotype | |
| | MAP2K1, SNAPC5 (I379V +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | SNAPC5, MAP2K1 (G380S +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | MAP2K1, SNAPC5 (N382H +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Melanoma | |
| | MAP2K1, SNAPC5 (N334K +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | MAP2K1, SNAPC5 (S337G +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | MAP2K1, SNAPC5 (T338I +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | RASopathy | |
| | MAP2K1, SNAPC5 (A390T +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | MAP2K1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | MAP2K1, SNAPC5 (A391V +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Cardiovascular phenotype +2 more | |
| | MAP2K1, SNAPC5 (V393I +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (3 prime UTR variant +3 more) | RASopathy | |
| | | Deletion (3 prime UTR variant +3 more) | RASopathy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | Noonan syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (3 prime UTR variant +1 more) | Noonan syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant +1 more) | Noonan syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Deletion | RASopathy | |
| | | Copy number gain | not provided | |
| | | Duplication | Neuronal ceroid lipofuscinosis | |
| | | Duplication | RASopathy | |
| | | Duplication | Bloom syndrome +1 more | |
| | | Duplication | RASopathy | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ALDH1A2, ALDH1A3 +444 more | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |