Emery-Dreifuss muscular dystrophy
An X-linked dominant mode(s) within the Neuromuscular disorders category
Conflicting classifications of pathogenicity
1
Pathogenic
1
Uncertain significance
1
| Variant name | Variant type | Phenotype | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys) | Single nucleotide variant |
not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2 |
Pathogenic | missense variant | rs267607545 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_182961.4(SYNE1):c.23288A>G (p.Glu7763Gly) | Single nucleotide variant |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant |
Uncertain significance | missense variant | rs765427429 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_182914.3(SYNE2):c.13156C>T (p.Gln4386Ter) | Single nucleotide variant | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | Conflicting classifications of pathogenicity | nonsense | rs140277551 |
.Lifecell International Pvt. Ltd |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar