| | ATAD2B, ATP6V1C2 +653 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933312, LOC129933313 +736 more | Copy number gain | See cases | |
| | C2orf48, C2orf50 +893 more | 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 | |
| | LOC126806252, LOC126806253 +2457 more | Copy number gain | See cases | |
| | | Deletion | Schizophrenia | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion (5 prime UTR variant +1 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | MYCN-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | MYCN-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | MYCN-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | MYCN-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | MYCN-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | Feingold syndrome type 1 | |
| | MYCNOS, MYCN (S3T +1 more) | Single nucleotide variant (missense variant +1 more) | MYCN-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | MYCN-related disorder +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | MYCN, MYCNOS (H103Q +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant +2 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (non-coding transcript variant +3 more) | Feingold syndrome type 1 +1 more | |
| | | Deletion (non-coding transcript variant +3 more) | Feingold syndrome type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | MYCN-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | MYCN-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Medulloblastoma +4 more | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided | |
| | | Deletion (non-coding transcript variant +3 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Megalencephaly-polydactyly syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | See cases | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided | |
| | | Deletion (frameshift variant +3 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not specified +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided | |
| | | Duplication (non-coding transcript variant +3 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided | |
| | | Duplication (non-coding transcript variant +3 more) | MYCN-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Inborn genetic diseases | |
| | | Duplication (non-coding transcript variant +3 more) | not provided | |
| | | Deletion (non-coding transcript variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | | Deletion (non-coding transcript variant +3 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | MYCN-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +2 more) | Feingold syndrome type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | MYCN-related disorder +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | MYCN-related disorder | |
| | | Deletion (frameshift variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | MYCN-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |