| | LOC129931064, LOC129931065 +563 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ADAM30, LOC111776218 +5 more | Copy number gain | See cases | |
| | ADAM30, LOC111776218 +4 more | Copy number gain | See cases | |
| | ADAM30, LOC111776218 +3 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | NOTCH2-related condition | |
| | | Single nucleotide variant (stop lost) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | NOTCH2-related condition | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation +1 more | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Alagille syndrome due to a NOTCH2 point mutation +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | NOTCH2-related condition +5 more | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Hajdu-Cheney syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | NOTCH2-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | NOTCH2-related condition | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (nonsense) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (nonsense) | NOTCH2-related condition | |
| | | Deletion (frameshift variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome +3 more | |
| | | Single nucleotide variant (nonsense) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation +2 more | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Alagille syndrome due to a NOTCH2 point mutation +3 more | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (nonsense) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |