| | | Inversion | Bilateral polymicrogyria | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129930347, LOC129930348 +91 more | Copy number loss | Epilepsy syndrome | |
| | | 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) | Van der Woude syndrome 2 | |
| | | 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 (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (missense variant) | CFAP57-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | CFAP57-related disorder | |
| | | 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) | CFAP57-related disorder | |
| | | 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 (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (intron variant) | CFAP57-related disorder | |
| | | 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 (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (missense variant) | CFAP57-related disorder | |
| | | 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 | |
| | CFAP57, LOC126805719 (D523Y) | Single nucleotide variant (missense variant) | Van der Woude syndrome 2 | |
| | CFAP57, LOC126805719 (G530C) | Single nucleotide variant (missense variant) | not specified | |
| | CFAP57, LOC126805719 (T543R) | Single nucleotide variant (missense variant) | not specified | |
| | CFAP57, LOC126805719 (Y557H) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CFAP57, LOC126805719 (D565N) | Single nucleotide variant (missense variant) | not specified | |
| | CFAP57, LOC126805719 (H576Y) | Single nucleotide variant (missense variant) | not specified | |
| | CFAP57, LOC126805719 (S584A) | Single nucleotide variant (missense variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (nonsense) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | CFAP57-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | CFAP57-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (missense variant) | CFAP57-related disorder | |
| | | Insertion (inframe insertion) | CFAP57-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (intron variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (missense variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (missense variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CFAP57-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | GLUT1 deficiency syndrome 1, autosomal recessive | |
| | | Copy number gain | not specified | |
| | | Deletion | not provided | |
| | | Copy number loss | not provided | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Duplication | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |