| | LOC126862722, LOC126862723 +1646 more | Copy number gain | See cases | |
| | LINC00683, LINC00907 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01478, LINC01538 +1643 more | Copy number gain | See cases | |
| | LOC130062393, LOC130062394 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062575, LOC130062576 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062446, LOC130062447 +1266 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 loss | See cases | |
| | LOC125371434, LOC125371435 +879 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | IER3IP1-related disorder | |
| | | Duplication | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (nonsense) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (nonsense) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Duplication (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Deletion (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Deletion (frameshift variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Deletion (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron variant) | Microcephaly, epilepsy, and diabetes syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Deletion (frameshift variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Deletion (frameshift variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |