| | ADAM19, ADAMTS2 +1166 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995246, LOC129995247 +622 more | Copy number gain | See cases | |
| | LOC129995359, LOC129995360 +386 more | Copy number loss | See cases | |
| | FAM153A, FAM153B +176 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995374, LOC129995375 +136 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995352, LOC129995353 +65 more | Copy number loss | Sotos syndrome | |
| | | Duplication | 5q35 microduplication syndrome | |
| | | Copy number loss | See cases | |
| | ADAMTS2, B4GALT7 +325 more | Copy number loss | See cases | |
| | LMAN2, LOC121099716 +26 more | Copy number gain | See cases | |
| | | Deletion (intron variant) | Sotos syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126807619, LOC129995362 +1 more | Deletion | Beckwith-Wiedemann syndrome | |
| | LOC126807619, LOC129995362 +1 more | Deletion | Sotos syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Sotos syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | NSD1-related condition | |
| | | Single nucleotide variant (missense variant) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant) | Sotos syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | NSD1-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Sotos syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | NSD1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | NSD1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | NSD1-related condition +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Sotos syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (intron variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | NSD1-related condition | |