| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Seckel syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Seckel syndrome 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +2 more | |
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