| | | Single nucleotide variant (splice acceptor variant) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Cohen syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant) | Cohen syndrome +1 more | |
| | | Deletion (frameshift variant) | Cohen syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cohen syndrome | |
| | | Single nucleotide variant (intron variant) | Cohen syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cohen syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cohen syndrome | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Cohen syndrome | |
| | | Single nucleotide variant (nonsense) | Cohen syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cohen syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cohen syndrome | |
| | | Single nucleotide variant (intron variant) | Cohen syndrome | |
| | | Single nucleotide variant (nonsense) | Cohen syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cohen syndrome | |
| | | Deletion (frameshift variant) | Cohen syndrome | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cohen syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cohen syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cohen syndrome | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant) | Cohen syndrome | |
| | | Duplication (frameshift variant) | Cohen syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | VPS13B-related disorder +1 more | |
| | | Microsatellite (frameshift variant) | Cohen syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cohen syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cohen syndrome | |
| | | Duplication (inframe_insertion) | Cohen syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Cohen syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Cohen syndrome | GPathogenic/Likely pathogenic |