| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | GPAT4, GPAT4-AS1 +3106 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000867, LOC130000868 +1686 more | Copy number gain | See cases | |
| | LOC130001282, LOC130001283 +1552 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000908, LOC130000909 +1406 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001243, LOC130001244 +1204 more | Copy number gain | See cases | |
| | LOC130001328, LOC130001329 +1067 more | Copy number gain | See cases | |
| | LOC114827840, LOC121331310 +961 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390060, LOC129929031 +745 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860527, LOC126860528 +499 more | Copy number gain | See cases | |
| | LOC130001259, LOC130001260 +373 more | Copy number gain | See cases | |
| | MIR10400, MIR1234 +375 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ARHGAP39, C8orf82 +21 more | Copy number gain | See cases | |
| | | Indel (missense variant) | CBL-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Deletion (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (3 prime UTR variant) | Holoprosencephaly sequence +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (synonymous variant) | FOXH1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (nonsense) | FOXH1-related condition | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (synonymous variant) | FOXH1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | FOXH1-related condition | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | FOXH1-related condition | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly sequence +1 more | |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly sequence | |