| | | Single nucleotide variant (3 prime UTR variant) | IER3IP1-related disorder | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | 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 | |
| | | 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 (missense variant) | Microcephaly, epilepsy, and diabetes syndrome 1 +1 more | |
| | | 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 (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 (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 | |
| | | Deletion | not provided | |