| | | Single nucleotide variant (nonsense) | Seckel syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (intron variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Seckel syndrome 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Seckel syndrome 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | ATR-related condition +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Seckel syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Seckel syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |