| | | Single nucleotide variant (synonymous variant +2 more) | H19-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | H19-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related condition | |
| | | Single nucleotide variant (intron variant) | H19-related condition | |
| | | Deletion (intron variant) | H19-related condition | |
| | | Single nucleotide variant (synonymous variant +2 more) | H19-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | H19-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | H19-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | MIR675-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | H19-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related condition | |
| | | Single nucleotide variant (synonymous variant +2 more) | H19-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | H19-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related condition | |
| | HOTS, MRPL23 +1 more (S40L) | Single nucleotide variant (missense variant +2 more) | H19-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | H19-related condition | |
| | | Single nucleotide variant (intron variant) | H19-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Microsatellite (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | H19-related condition | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (genic upstream transcript variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (intron variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (genic upstream transcript variant) | Beckwith-Wiedemann syndrome | |
| | | Single nucleotide variant (genic upstream transcript variant) | Beckwith-Wiedemann syndrome | |