| | | Deletion | not provided | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Duplication (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Deletion (intron 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 (intron 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 +1 more) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron 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 (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron 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 (intron 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 | |
| | | Deletion (frameshift variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Deletion (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Copy number gain | Trisomy 18 | |
| | | Single nucleotide variant (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron 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 | |
| | | Deletion (intron variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Deletion (intron variant) | 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 | |
| | | Copy number gain | not specified | |
| | | 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 | |
| | | Duplication | Vici syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Deletion | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, epilepsy, and diabetes syndrome | |
| | | Single nucleotide variant (intron 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 (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 1 +1 more | |
| | | 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 | |
| | IER3IP1, LOC130062441 (M1T) | Single nucleotide variant (missense variant +1 more) | Microcephaly, epilepsy, and diabetes syndrome | |
| | IER3IP1, LOC130062441 (A2S) | 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 | |
| | | 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) | 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) | 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 (frameshift 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 | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous 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 (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous 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 (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 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |