| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Single nucleotide variant (missense variant +1 more) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | WAC-related disorder | |
| | | Single nucleotide variant (nonsense +1 more) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | DeSanto-Shinawi syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | WAC-related disorder | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | DeSanto-Shinawi syndrome due to WAC point mutation +1 more | |
| | | Single nucleotide variant (missense variant) | DeSanto-Shinawi syndrome due to WAC point mutation +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Insertion (frameshift variant) | not provided | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Microsatellite (frameshift variant) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Microsatellite (frameshift variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Deletion (frameshift variant) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Deletion (splice acceptor variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (nonsense) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | DeSanto-Shinawi syndrome due to WAC point mutation +1 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (splice donor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | DeSanto-Shinawi syndrome due to WAC point mutation +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |