Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr2:224824304
- GRCh38:
- Chr2:223959587
| MRPL44 | | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | Likely pathogenic
(Jul 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:224824538
- GRCh38:
- Chr2:223959821
| MRPL44 | L156P | not provided | Uncertain significance
(Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:224824552-224824555
- GRCh38:
- Chr2:223959835-223959838
| MRPL44 | T161fs | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | Pathogenic
(Sep 13, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr2:224828615
- GRCh38:
- Chr2:223963898
| MRPL44 | T264S | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | Uncertain significance
(Jun 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:224824567
- GRCh38:
- Chr2:223959850
| MRPL44 | V166M | not provided | Uncertain significance
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:224828669
- GRCh38:
- Chr2:223963952
| MRPL44 | | not specified, Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency, not provided
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:224824538
- GRCh38:
- Chr2:223959821
| MRPL44 | L156R | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency, not provided | Pathogenic/Likely pathogenic
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |