| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Dyskeratosis congenita +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita +1 more | |
| | | Duplication (frameshift variant +1 more) | Cerebroretinal microangiopathy with calcifications and cysts 1 | |
| | | Microsatellite (inframe_deletion +1 more) | Coats plus syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cerebroretinal microangiopathy with calcifications and cysts 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cerebroretinal microangiopathy with calcifications and cysts 1 +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita +2 more | |
| | | Deletion (frameshift variant) | Dyskeratosis congenita +3 more | |
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