Links from MedGen
Items: 8
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr14:74961552
- GRCh38:
- Chr14:74494849
| ISCA2 | R105I | Multiple mitochondrial dysfunctions syndrome 4 | Uncertain significance
(Sep 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr14:74961551
- GRCh38:
- Chr14:74494848
| ISCA2 | R105G | Multiple mitochondrial dysfunctions syndrome 4 | Likely pathogenic
(Aug 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr14:74961660
- GRCh38:
- Chr14:74494957
| ISCA2 | Q141L | not provided, Multiple mitochondrial dysfunctions syndrome 4 | Uncertain significance
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:74961599
- GRCh38:
- Chr14:74494896
| ISCA2 | V121L | Multiple mitochondrial dysfunctions syndrome 4, not provided | Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:74961593
- GRCh38:
- Chr14:74494890
| ISCA2 | A119T | not specified | Uncertain significance
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:74961533
- GRCh38:
- Chr14:74494830
| ISCA2 | F99fs | not provided | Likely pathogenic
(Dec 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:74961572
- GRCh38:
- Chr14:74494869
| ISCA2 | S112G | not provided | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:74961032
- GRCh38:
- Chr14:74494329
| ISCA2 | G77S | Multiple mitochondrial dysfunctions syndrome 4, Fatal multiple mitochondrial dysfunctions syndrome, not provided
| Pathogenic/Likely pathogenic
(May 8, 2023) | criteria provided, multiple submitters, no conflicts |