Links from MedGen
Items: 5
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr7:5569195
- GRCh38:
- Chr7:5529564
| ACTB | P32S | not provided, Baraitser-Winter syndrome | Conflicting interpretations of pathogenicity
(Dec 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:79478408
- GRCh38:
- Chr17:81511382
| ACTG1 | T203M | Autosomal dominant nonsyndromic hearing loss 20 | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:5567428-5567429
- GRCh38:
- Chr7:5527797-5527798
| ACTB | Q360fs | not provided, Baraitser-Winter syndrome 1, Baraitser-Winter syndrome
| Conflicting interpretations of pathogenicity
(Apr 29, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:5568796
- GRCh38:
- Chr7:5529165
| ACTB | T120I | Baraitser-Winter syndrome 1 | Pathogenic
(Jul 23, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr7:5568848
- GRCh38:
- Chr7:5529217
| ACTB | V103L | Baraitser-Winter syndrome | Uncertain significance
(Dec 11, 2018) | criteria provided, single submitter |