Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr19:47111735
- GRCh38:
- Chr19:46608478
| CALM3 | | Long QT syndrome 16, Long QT syndrome 1 | Uncertain significance
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47112238
- GRCh38:
- Chr19:46608981
| CALM3 | E141K, E105K | Long QT syndrome 1, Long QT syndrome 16 | Pathogenic
(Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47112206
- GRCh38:
- Chr19:46608949
| CALM3 | D130G, D94G | Long QT syndrome 16 | Pathogenic
(Feb 19, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr19:47111663
- GRCh38:
- Chr19:46608406
| CALM3 | | Long QT syndrome 16, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47109011
- GRCh38:
- Chr19:46605754
| CALM3 | | Long QT syndrome 16, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47112242
- GRCh38:
- Chr19:46608985
| CALM3 | | Long QT syndrome 1, Long QT syndrome 16 | Uncertain significance
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47112207
- GRCh38:
- Chr19:46608950
| CALM3 | | not specified, Cardiovascular phenotype, Long QT syndrome 1,
Long QT syndrome 16 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |