| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Deletion | Developmental and epileptic encephalopathy, 31A +1 more | |
| | | Duplication | Dystonic disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ODF2, ODF2-AS1 (R124G +10 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ODF2, ODF2-AS1 (C182R +10 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | ODF2, ODF2-AS1 (K102N +8 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ODF2, ODF2-AS1 (R104L +10 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ODF2, ODF2-AS1 (T117M +8 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | ODF2, ODF2-AS1 (E103K +10 more) | Single nucleotide variant (missense variant) | not specified | |
| | ODF2, ODF2-AS1 (T153M +10 more) | Single nucleotide variant (missense variant) | not specified | |
| | ODF2, ODF2-AS1 (A133V +10 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | ODF2, ODF2-AS1 (A109V +8 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | ANKRD18A, ANKRD18B +768 more | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Infantile epilepsy syndrome | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more | |
| | | Copy number gain | Seizure +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124210612, LOC124210613 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839542, LOC113839543 +3786 more | Copy number gain | See cases | |
| | LOC121331326, LOC121331327 +3785 more | Copy number gain | See cases | |
| | LOC126860737, LOC126860738 +3786 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002189, LOC130002190 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121197, LOC110121234 +3786 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130003132, LOC130003133 +1210 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121331342, LOC121331343 +3786 more | Copy number gain | See cases | |