| | LOC126806103, LOC126806104 +1047 more | Copy number gain | See cases | |
| | LOC129933186, LOC129933187 +736 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933311, LOC129933312 +1631 more | Copy number gain | See cases | |
| | LINC01115, LINC01121 +1400 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TRY-GTA2-1, UBXN2A +321 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | DNMT3A, LOC122756673 +10 more | Copy number gain | See cases | |
| | DNMT3A, LOC122756673 +13 more | Deletion | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Duplication (inframe_insertion +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Glioblastoma | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Acute myeloid leukemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Abnormality of the nervous system +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Myelodysplastic syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Acute myeloid leukemia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Acute myeloid leukemia | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | DNMT3A-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | DNMT3A-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (intron variant) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (intron variant) | DNMT3A-related disorder | |
| | | Single nucleotide variant (intron variant) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Deletion (frameshift variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Deletion (frameshift variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | DNMT3A-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (intron variant) | DNMT3A-related disorder | |
| | | Single nucleotide variant (intron variant) | DNMT3A-related disorder | |
| | | Single nucleotide variant (intron variant) | DNMT3A-related disorder | |
| | | Single nucleotide variant (intron variant) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (intron variant) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | DNMT3A-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |