| | LOC130005128, LOC130005129 +723 more | Copy number gain | See cases | |
| | LOC106799843, LOC106865369 +388 more | Copy number gain | See cases | |
| | LOC106783508, LOC106799843 +271 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | A-GAMMA3'E, ABCC8 +917 more | Copy number gain | See cases | |
| | BGLT3, A-GAMMA3'E +328 more | Deletion | Thalassemia, gamma-delta-beta | |
| | KRTAP5-6, KRTAP5-AS1 +129 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | Gconflicting data from submitters |
| | | Single nucleotide variant (stop lost +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | CDKN1C-related condition | |
| | | Single nucleotide variant (intron variant) | CDKN1C-related condition | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | CDKN1C-related condition +3 more | |
| | | Single nucleotide variant (intron variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (intron variant) | Beckwith-Wiedemann syndrome +1 more | |
| | | Insertion (intron variant) | Beckwith-Wiedemann syndrome | |
| | | Deletion | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (intron variant) | CDKN1C-related condition | |
| | | Single nucleotide variant (intron variant) | CDKN1C-related condition | |
| | | Single nucleotide variant (splice donor variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (splice donor variant) | IMAGe syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Deletion (frameshift variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Deletion (inframe_deletion +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Deletion (frameshift variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant) | Beckwith-Wiedemann syndrome | |
| | | Indel (inframe_indel +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Beckwith-Wiedemann syndrome | |