| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC106865369, NUP98 (P457S +3 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LOC106865369, NUP98 (S422T +3 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LOC106865369, NUP98 (A433V +3 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LOC106865369, NUP98 (K464T +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC106865369, NUP98 (A462G +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Translocation | Acute megakaryoblastic leukemia without down syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant +1 more) | Hirschsprung disease, susceptibility to, 1 | |
Click to view in NCBI Gene