| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Primary microcephaly | |
| | | Single nucleotide variant (missense variant) | Primary microcephaly | |
| | | Single nucleotide variant (missense variant) | Primary microcephaly | |
| | | Single nucleotide variant (nonsense) | Primary microcephaly | |
| | | Single nucleotide variant (missense variant) | Primary microcephaly | |
| | | Single nucleotide variant (missense variant) | Primary microcephaly | |
| | | Single nucleotide variant (missense variant) | Primary microcephaly | |
| | | Deletion (frameshift variant) | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | |
| | | Single nucleotide variant (missense variant) | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | |
| | | Deletion (frameshift variant) | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +2 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Indel (frameshift variant +1 more) | Microcephaly 5, primary, autosomal recessive | |
| | | Deletion (frameshift variant) | Microcephaly 5, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Microcephaly 8, primary, autosomal recessive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 3, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Microcephaly 8, primary, autosomal recessive | |
| | | Deletion (frameshift variant +1 more) | Microcephaly 3, primary, autosomal recessive | |
| | | Microsatellite (frameshift variant +1 more) | not provided +1 more | |
| | | Microsatellite (frameshift variant +1 more) | Microcephaly 5, primary, autosomal recessive | |
| | | Microsatellite (nonsense +1 more) | Microcephaly 5, primary, autosomal recessive | |
| | | Single nucleotide variant (nonsense) | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | |
| | | Duplication (frameshift variant +1 more) | Microcephaly 5, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | DNA ligase IV deficiency | |
| | | Single nucleotide variant (missense variant) | Microcephaly and chorioretinopathy 1 | |
| | | Single nucleotide variant (missense variant) | Microcephaly and chorioretinopathy 1 | |
| | | Single nucleotide variant (nonsense) | Bloom syndrome | |
| | | Deletion (frameshift variant) | Bloom syndrome | |
| | | Duplication (frameshift variant) | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | ERCC8, ERCC8-AS1 (R41fs +1 more) | Indel (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 50 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly, short stature, and impaired glucose metabolism 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly 4, primary, autosomal recessive | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Primary microcephaly type 2 +1 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly 5, primary, autosomal recessive | |
| | | Deletion (frameshift variant +1 more) | Inborn genetic diseases +3 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Microcephaly 5, primary, autosomal recessive | |
| | | Single nucleotide variant (nonsense) | Microcephaly 5, primary, autosomal recessive +1 more | |
| | | Duplication (frameshift variant +1 more) | Microcephaly 5, primary, autosomal recessive | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Intellectual disability +5 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly 9, primary, autosomal recessive +1 more | GPathogenic/Likely pathogenic |