An
X-linked dominant
mode(s) within the
Neuromuscular disorders
category
Likely pathogenic
6
Pathogenic
15
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_004006.3(DMD):c.10044del (p.Gly3349fs) | Deletion | ChrX:31180412 | Likely pathogenic | Frameshift variant |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
|
| NM_004006.3(DMD):c.1327del (p.Ser443fs) | Deletion | ChrX:32644136 | Likely pathogenic | Frameshift variant |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
|
| NM_004006.3(DMD):c.1863T>A (p.Tyr621Ter) | Single nucleotide variant | ChrX:32565831 | Likely pathogenic | Nonsense |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
|
| NM_004006.3(DMD):c.7437G>A (p.Trp2479Ter) | Single nucleotide variant | ChrX:31774065 | Pathogenic | Nonsense | rs2149245072 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_004006.3(DMD):c.8224C>T (p.Gln2742Ter) | Single nucleotide variant | ChrX:31507447 | Pathogenic | Nonsense | rs2147177872 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_004006.3(DMD):c.9060del (p.Asn3021fs) | Deletion | ChrX:31444505 | Pathogenic | Frameshift variant | rs2524517271 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_004006.3(DMD):c.8028-1G>T | Single nucleotide variant | ChrX:31627863 | Pathogenic | Splice acceptor variant | rs2148423696 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_004006.3(DMD):c.4354C>T (p.Gln1452Ter) | Single nucleotide variant | ChrX:32389665 | Pathogenic | Nonsense | rs2147613652 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_004006.3(DMD):c.3774C>A (p.Cys1258Ter) | Single nucleotide variant | ChrX:32448468 | Pathogenic | Nonsense | rs1569562933 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_004006.3(DMD):c.9975-1G>T | Single nucleotide variant | ChrX:31180482 | Pathogenic | Splice acceptor variant | rs1556040444 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NC_000023.10:g.(31697577_31747779)_(31986532_32235089)del | Deletion | Chr: | Pathogenic |
.Department of Neurogenetics, Institute for Communicative and Cognitive Neurosciences |
||
| NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter) | Single nucleotide variant | ChrX:32343220 | Pathogenic | Nonsense | rs1295935628 |
.Lifecell International Pvt. Ltd |
| NM_004006.3(DMD):c.6615-2A>G | Single nucleotide variant | ChrX:31932229 | Pathogenic | Splice acceptor variant | rs1557011973 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_004006.3(DMD):c.2530C>T (p.Gln844Ter) | Single nucleotide variant | ChrX:32491369 | Pathogenic | Nonsense | rs768892830 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_004006.2:c.94_3786dup | Duplication | Chr: | Likely pathogenic |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
||
| NM_004006.3(DMD):c.497G>T (p.Gly166Val) | Single nucleotide variant | ChrX:32816501 | Uncertain significance | Missense variant | rs1557052538 |
.GenePathDx, GenePath diagnostics |
| NM_004006.2(DMD):c.94_264dup | Duplication | Chr: | Likely pathogenic |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
||
| NM_004006.3(DMD):c.8459G>A (p.Trp2820Ter) | Single nucleotide variant | ChrX:31496876 | Likely pathogenic | Nonsense | rs886039785 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter) | Single nucleotide variant | ChrX:32345999 | Pathogenic | Nonsense | rs1064325 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_004006.3(DMD):c.2381-1G>T | Single nucleotide variant | ChrX:32491519 | Pathogenic/Likely pathogenic | Splice acceptor variant | rs398123887 |
.Lifecell International Pvt. Ltd |
| NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) | Single nucleotide variant | ChrX:32342123 | Pathogenic | Nonsense | rs128626249 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_004006.3(DMD):c.724C>T (p.Gln242Ter) | Single nucleotide variant | ChrX:32699219 | Pathogenic | Nonsense | rs128626238 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_004006.3(DMD):c.2302C>T (p.Arg768Ter) | Single nucleotide variant | ChrX:32501833 | Pathogenic | Nonsense | rs201366610 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution