Congenital myasthenic syndrome 10
An Autosomal recessive mode(s) within the Neuromuscular disorders category
Conflicting classifications of pathogenicity
1
Likely pathogenic
1
Pathogenic
3
Pathogenic/Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_173660.5(DOK7):c.533-2A>G | Single nucleotide variant | Chr4:3485537 | Conflicting classifications of pathogenicity | Splice acceptor variant | rs2475052844 | |
| NM_173660.5(DOK7):c.1511_1513del (p.Pro504_Ter505delinsArg) | Deletion | Chr4:3493497 - 3493499 | Likely pathogenic | 3 prime UTR variant|stop lost|intron variant | rs762345055 | |
| NM_173660.5(DOK7):c.483_484dup (p.Ala162fs) | Duplication | Chr4:3476490 - 3476491 | Pathogenic | Frameshift variant|intron variant | rs1577153124 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe) | Single nucleotide variant | Chr4:3493047 | Pathogenic | 3 prime UTR variant|missense variant | rs756015202 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_173660.5(DOK7):c.199C>T (p.Pro67Ser) | Single nucleotide variant | Chr4:3473504 | Pathogenic | Missense variant|intron variant | rs1553846331 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_173660.5(DOK7):c.1378dup (p.Gln460fs) | Duplication | Chr4:3493358 - 3493359 | Pathogenic/Likely pathogenic | 3 prime UTR variant|frameshift variant | rs606231133 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_173660.5(DOK7):c.1263dup (p.Ser422fs) | Duplication | Chr4:3493242 - 3493243 | Pathogenic/Likely pathogenic | Frameshift variant|3 prime UTR variant | rs606231129 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar