Links from MedGen
Items: 8
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr20:25405934
- GRCh38:
- Chr20:25425298
| GINS1 | M140L | Combined immunodeficiency due to GINS1 deficiency, Inborn genetic diseases, not provided
| Uncertain significance
(Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25398790
- GRCh38:
- Chr20:25418154
| GINS1 | V97I | Combined immunodeficiency due to GINS1 deficiency, not provided | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25398757
- GRCh38:
- Chr20:25418121
| GINS1 | R86W | Combined immunodeficiency due to GINS1 deficiency | Uncertain significance
(Aug 30, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr20:25388508
- GRCh38:
- Chr20:25407872
| GINS1 | E18fs | Combined immunodeficiency due to GINS1 deficiency | Uncertain significance
(Aug 30, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr20:25422345
- GRCh38:
- Chr20:25441709
| GINS1 | C152Y | Combined immunodeficiency due to GINS1 deficiency | Likely pathogenic
(Oct 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25388397
- GRCh38:
- Chr20:25407761
| GINS1 | | Combined immunodeficiency due to GINS1 deficiency | Pathogenic
(Jan 10, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr20:25398748
- GRCh38:
- Chr20:25418112
| GINS1 | R83C | Combined immunodeficiency due to GINS1 deficiency, not provided | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25388409
- GRCh38:
- Chr20:25407773
| GINS1 | | not provided | Uncertain significance
(Jun 9, 2022) | criteria provided, single submitter |