| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant +2 more) | SRSF2-related condition | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Acute myeloid leukemia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Acute megakaryoblastic leukemia in down syndrome | |
| | ST6GALNAC1, MGAT5B +10 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TNFSF12, TNFSF12-TNFSF13 +1143 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion (inframe_deletion +2 more) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130061805, LOC130061806 +1033 more | Copy number gain | See cases | |
Click to view in NCBI Gene