| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Indel (frameshift variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Indel (frameshift variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (splice donor variant) | Cohen syndrome | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +1 more | |
| | | Deletion (intron variant) | Cohen syndrome | |
| | | Deletion (intron variant) | Cohen syndrome | |
| | | Single nucleotide variant (intron variant) | Cohen syndrome | |
| | | Single nucleotide variant (intron variant) | Cohen syndrome | |
| | | Deletion (intron variant) | Cohen syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cohen syndrome | |
| | | Deletion (intron variant) | Cohen syndrome | |
| | | Single nucleotide variant (intron variant) | Cohen syndrome | |
| | | Single nucleotide variant (intron variant) | Cohen syndrome | |
| | | Single nucleotide variant (intron variant) | Cohen syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Deletion (frameshift variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | VPS13B-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Indel (frameshift variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cohen syndrome | |
| | | Deletion (frameshift variant +1 more) | Cohen syndrome | |
| | | Deletion (non-coding transcript variant +1 more) | Cohen syndrome | |