Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr2:16086050
- GRCh38:
- Chr2:15945928
| MYCN | P409L, P198L | Absent gallbladder, Double outlet right ventricle, Ventricular septal defect,
Bilateral cleft palate, not provided | Uncertain significance
(Oct 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:172659674-172659676
- GRCh38:
- Chr5:173232671-173232673
| NKX2-5 | N291del | Cardiovascular phenotype, Atrial septal defect 7, Hypoplastic left heart syndrome 2,
Ventricular septal defect 3, Hypothyroidism, congenital, nongoitrous, 5, Atrial septal defect 7,
Tetralogy of Fallot, Conotruncal heart malformations | Uncertain significance
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:106814519
- GRCh38:
- Chr8:105802291
| LOC126860469, ZFPM2, ZFPM2-AS1 | K737E, K605E, K684E | Double outlet right ventricle | Pathogenic
(Nov 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr8:106801094
- GRCh38:
- Chr8:105788866
| ZFPM2, ZFPM2-AS1 | I227M, I174M, I95M | Double outlet right ventricle | Pathogenic
(Aug 1, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr19:18979725
- GRCh38:
- Chr19:18868916
| CERS1, GDF1 | C267Y | GDF1-related condition | Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:106814417
- GRCh38:
- Chr8:105802189
| ZFPM2, ZFPM2-AS1 | M703L, M650L, M571L | 46,XY sex reversal 9, not specified | Benign/Likely benign
(Aug 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:106431420
- GRCh38:
- Chr8:105419192
| ZFPM2 | E30G | 46,XY sex reversal 9, not specified, not provided
| Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |