Links from MedGen
Items: 9
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr15:75648982
- GRCh38:
- Chr15:75356641
| MAN2C1, NEIL1 | R802H, R901H, R918H | Congenital disorder of deglycosylation 2 | Uncertain significance
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:75652084
- GRCh38:
- Chr15:75359743
| MAN2C1 | A510T, A609T | Congenital disorder of deglycosylation 2, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Jun 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:75660871-75660873
- GRCh38:
- Chr15:75368530-75368532
| LOC112272617, MAN2C1 | E18del | Congenital disorder of deglycosylation 2 | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:75648374
- GRCh38:
- Chr15:75356033
| MAN2C1, NEIL1 | | Congenital disorder of deglycosylation 2 | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:75656523
- GRCh38:
- Chr15:75364182
| MAN2C1 | G203R | Congenital disorder of deglycosylation 2 | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:75648950-75648951
- GRCh38:
- Chr15:75356609-75356610
| MAN2C1, NEIL1 | H812fs, H911fs, H928fs | Congenital disorder of deglycosylation 2 | Likely pathogenic
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:75649179
- GRCh38:
- Chr15:75356838
| MAN2C1, NEIL1 | C871S, C772S, C888S | Congenital disorder of deglycosylation 2 | Pathogenic
(Mar 9, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr15:75650903
- GRCh38:
- Chr15:75358562
| MAN2C1 | R768Q, R669Q, R785Q | Congenital disorder of deglycosylation 2 | Pathogenic
(Mar 9, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr15:75656531
- GRCh38:
- Chr15:75364190
| MAN2C1 | | Congenital disorder of deglycosylation 2 | Pathogenic
(Mar 31, 2022) | no assertion criteria provided |