| | ANGPT2, MCPH1 (K319Q +3 more) | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Deletion (frameshift variant +3 more) | Microcephaly 1, primary, autosomal recessive | |
| | MCPH1, MCPH1-AS1 (Y707* +1 more) | Single nucleotide variant (nonsense) | Microcephaly 1, primary, autosomal recessive | |
| | | Indel (intron variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Deletion (frameshift variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | MCPH1, MCPH1-AS1 (R648* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +2 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Deletion (frameshift variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | MCPH1, MCPH1-AS1 (G660R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Copy number loss | Microcephaly 1, primary, autosomal recessive | |
| | | Copy number loss | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | MCPH1, MCPH1-AS1 (T728I +1 more) | Single nucleotide variant (synonymous variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | MCPH1, MCPH1-AS1 (S719C +1 more) | Single nucleotide variant (missense variant) | Microcephaly 1, primary, autosomal recessive | |
| | MCPH1, MCPH1-AS1 (A713V +1 more) | Single nucleotide variant (missense variant) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Microcephaly 1, primary, autosomal recessive | |
| | MCPH1, MCPH1-AS1 (R752G +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Microcephaly 1, primary, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | MCPH1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Microcephaly 1, primary, autosomal recessive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | MCPH1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Duplication (frameshift variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Deletion (inframe_indel +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Duplication (frameshift variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +3 more | |
| | | Insertion (frameshift variant) | Autosomal recessive primary microcephaly +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +2 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephaly 1, primary, autosomal recessive | |
| | MCPH1, MCPH1-AS1 (P799S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | MCPH1, MCPH1-AS1 (S765W +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Microcephaly 1, primary, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive | |