| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935070, LOC129935071 +162 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | PHOSPHO2-KLHL23, PHOSPHO2 (K2R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PHOSPHO2, PHOSPHO2-KLHL23 (I13V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PHOSPHO2-KLHL23, PHOSPHO2 (N17S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PHOSPHO2-KLHL23, PHOSPHO2 (T75N) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PHOSPHO2, PHOSPHO2-KLHL23 (M78V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PHOSPHO2, PHOSPHO2-KLHL23 (D99Y) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PHOSPHO2-KLHL23, PHOSPHO2 (S102L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PHOSPHO2-KLHL23, PHOSPHO2 (S113N) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PHOSPHO2-KLHL23, PHOSPHO2 (Q164E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PHOSPHO2, PHOSPHO2-KLHL23 (I177T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PHOSPHO2-KLHL23, PHOSPHO2 (F237L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PHOSPHO2, PHOSPHO2-KLHL23 (I239V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number gain | not specified | |
| | | Copy number loss | 2q24 microdeletion syndrome | |
| | | Copy number loss | 2q24 microdeletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |