Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr7:150439553
- GRCh38:
- Chr7:150742465
| GIMAP1-GIMAP5, GIMAP5 | P109L, P185L, P313L | Portal hypertension, Portal hypertension, noncirrhotic, 2 | Pathogenic/Likely pathogenic
(Aug 2, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr7:150439894
- GRCh38:
- Chr7:150742806
| GIMAP1-GIMAP5, GIMAP5 | L223F, L299F, L427F | Portal hypertension, Portal hypertension, noncirrhotic, 2 | Pathogenic/Likely pathogenic
(Aug 3, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr7:150439367
- GRCh38:
- Chr7:150742279
| GIMAP1-GIMAP5, GIMAP5 | I123T, I251T, I47T | Portal hypertension, Portal hypertension, noncirrhotic, 2 | Pathogenic/Likely pathogenic
(Aug 3, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr7:150439838
- GRCh38:
- Chr7:150742750
| GIMAP1-GIMAP5, GIMAP5 | L280P, L408P | Portal hypertension, Portal hypertension, noncirrhotic, 2 | Pathogenic/Likely pathogenic
(Aug 2, 2021) | no assertion criteria provided |