Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:228345607
- GRCh38:
- Chr1:228157906
| GJC2 | E50K | Lymphatic malformation 3 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:228345879-228345905
- GRCh38:
- Chr1:228158178-228158204
| GJC2 | | Spastic paraplegia | Uncertain significance
(Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:228346658
- GRCh38:
- Chr1:228158957
| GJC2 | A400E | Spastic paraplegia, not provided | Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:228346693
- GRCh38:
- Chr1:228158992
| GJC2 | H412Y | Spastic paraplegia, not provided, not specified,
Inborn genetic diseases, Hereditary spastic paraplegia 44, Hypomyelinating leukodystrophy 2,
Lymphatic malformation 3, Hereditary spastic paraplegia | Uncertain significance
(Jul 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:228345567
- GRCh38:
- Chr1:228157866
| GJC2 | | Spastic paraplegia, not specified, Hereditary spastic paraplegia,
Lymphatic malformation 3, Hereditary spastic paraplegia 44, Hypomyelinating leukodystrophy 2,
not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:228346237
- GRCh38:
- Chr1:228158536
| GJC2 | R260C | Lymphatic malformation 3 | Pathogenic
(Jun 11, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:228345602
- GRCh38:
- Chr1:228157901
| GJC2 | S48L | Lymphatic malformation 3 | Pathogenic
(Apr 1, 2011) | no assertion criteria provided |