Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr4:106164914
- GRCh38:
- Chr4:105243757
| TET2, TET2-AS1 | R1261H | Atypical chronic myeloid leukemia, BCR-ABL1 negative | Uncertain significance
(Apr 20, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr17:74732959
- GRCh38:
- Chr17:76736877
| MFSD11, SRSF2 | P95L | Acute myeloid leukemia, Atypical chronic myeloid leukemia, BCR-ABL1 negative | Pathogenic
(Jun 8, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr21:36164612-36164613
- GRCh38:
- Chr21:34792315-34792316
| RUNX1 | E395fs, E422fs | Atypical chronic myeloid leukemia, BCR-ABL1 negative | Pathogenic
(Apr 20, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr20:31022406-31022452
- GRCh38:
- Chr20:32434603-32434649
| ASXL1 | H570fs, H631fs | Atypical chronic myeloid leukemia, BCR-ABL1 negative | Pathogenic
(Apr 20, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr4:106197285
- GRCh38:
- Chr4:105276128
| TET2, TET2-AS1 | I1873T | not provided | Uncertain significance
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:28608270-28608271
- Chr17:27423778-27423779
| FLT3, MYO18A | | Atypical chronic myeloid leukemia, BCR-ABL1 negative | Likely pathogenic
(Sep 25, 2018) | no assertion criteria provided |