An
mode(s) within the
Neuromuscular disorders
category
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar
Likely pathogenic
1
Pathogenic
1
Pathogenic/Likely pathogenic
3
Uncertain significance
1
| Variant name | Variant type | Germline classification | Molecular consequence | Grch38 Location | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001100.4(ACTA1):c.977_979dup (p.Thr326_Met327insThr) | Duplication | Uncertain significance | inframe_insertion | Chr1:229431731 - 229431732 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) | single nucleotide variant | Pathogenic | missense variant | Chr1:201077915 | rs80338777 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) | Deletion | Pathogenic/Likely pathogenic | frameshift variant|non-coding transcript variant | Chr7:143339287 - 143339300 | rs768119034 | |
| NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) | single nucleotide variant | Pathogenic/Likely pathogenic | nonsense|non-coding transcript variant | Chr7:143351678 | rs55960271 | |
| NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) | single nucleotide variant | Pathogenic/Likely pathogenic | nonsense | Chr19:38517520 | rs752199191 |
.Lifecell International Pvt. Ltd |
| NM_152263.4(TPM3):c.654AGA[1] (p.Glu219del) | Microsatellite | Likely pathogenic | inframe_deletion|non-coding transcript variant|intron variant | Chr1:154170695 - 154170697 | rs876661407 |
.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