An
Autosomal dominant, Autosomal recessive, X-linked recessive, X-linked dominant
mode(s) within the
Neuromuscular disorders
category
Benign/Likely benign
1
Conflicting classifications of pathogenicity
8
Likely pathogenic
4
Pathogenic
13
Pathogenic/Likely pathogenic
6
Uncertain significance
6
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001605.3(AARS1):c.580C>T (p.Arg194Trp) | Single nucleotide variant | Chr16:70271872 | Uncertain significance | Missense variant | rs764675357 |
.Department of Biochemistry, All India Institute of Medical Sciences, Kalyani |
| NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) | Single nucleotide variant | Chr11:62702493 | Pathogenic/Likely pathogenic | Non-coding transcript variant|missense variant | rs137852973 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter) | Single nucleotide variant | Chr10:12097780 | Likely pathogenic | Nonsense | rs606231237 |
.Lifecell International Pvt. Ltd |
| NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys) | Single nucleotide variant | Chr19:10823816 | Conflicting classifications of pathogenicity | Missense variant | rs951875086 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) | Single nucleotide variant | Chr14:101979951 | Conflicting classifications of pathogenicity | Missense variant | rs879253979 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) | Single nucleotide variant | Chr8:74360184 | Pathogenic | Missense variant|intron variant | rs104894078 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_001358263.1(HK1):c.19C>T (p.Arg7Ter) | Single nucleotide variant | Chr10:69288762 | Pathogenic/Likely pathogenic | Nonsense|5 prime UTR variant | rs779250530 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000188.3(HK1):c.1252A>G (p.Lys418Glu) | Single nucleotide variant | Chr10:69380082 | Likely pathogenic | Missense variant | rs1564557037 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) | Single nucleotide variant | Chr7:76303855 | Pathogenic | Missense variant | rs121909112 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) | Single nucleotide variant | Chr11:68934517 | Conflicting classifications of pathogenicity | Missense variant | rs756985703 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_022489.4(INF2):c.2507T>C (p.Ile836Thr) | Single nucleotide variant | Chr14:104712450 | Benign/Likely benign | Missense variant | rs767351070 |
.Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences |
| NM_001365951.3(KIF1B):c.197G>A (p.Cys66Tyr) | Single nucleotide variant | Chr1:10258506 | Uncertain significance | Missense variant |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
|
| NM_001365951.3(KIF1B):c.2642A>G (p.Tyr881Cys) | Single nucleotide variant | Chr1:10324862 | Conflicting classifications of pathogenicity | Missense variant | rs755850268 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_001365951.3(KIF1B):c.4922C>T (p.Ser1641Phe) | Single nucleotide variant | Chr1:10371238 | Uncertain significance | Missense variant | rs748589511 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_170707.4(LMNA):c.62T>C (p.Leu21Pro) | Single nucleotide variant | Chr1:156114980 | Uncertain significance | Missense variant | rs1649704361 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_170707.4(LMNA):c.91_93del (p.Glu31del) | Deletion | Chr1:156115007 - 156115009 | Pathogenic | Inframe_deletion | rs864309525 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys) | Single nucleotide variant | Chr1:156136121 | Pathogenic | Missense variant | rs267607545 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_170707.4(LMNA):c.1824C>T (p.Gly608=) | Single nucleotide variant | Chr1:156138613 | Pathogenic | Synonymous variant|intron variant | rs58596362 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) | Single nucleotide variant | Chr1:156137203 | Conflicting classifications of pathogenicity | Missense variant | rs57318642 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001005373.4(LRSAM1):c.2111G>T (p.Arg704Leu) | Single nucleotide variant | Chr9:127502838 | Uncertain significance | Missense variant|non-coding transcript variant | rs140808447 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_014874.4(MFN2):c.724C>T (p.His242Tyr) | Single nucleotide variant | Chr1:11999003 | Likely pathogenic | Missense variant | rs2523036866 |
.Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi |
| NM_014874.4(MFN2):c.314C>T (p.Thr105Met) | Single nucleotide variant | Chr1:11996158 | Pathogenic/Likely pathogenic | Missense variant | rs863224069 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001303256.3(MORC2):c.1220G>T (p.Cys407Phe) | Single nucleotide variant | Chr22:30937964 | Uncertain significance | Missense variant | rs1555938741 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_016156.6(MTMR2):c.304C>T (p.Arg102Ter) | Single nucleotide variant | Chr11:95862325 | Pathogenic | Nonsense | rs115506357 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000263.4(NAGLU):c.384-3C>A | Single nucleotide variant | Chr17:42537395 | Conflicting classifications of pathogenicity | Intron variant | rs1216280532 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) | Single nucleotide variant | Chr17:42543450 | Pathogenic | Missense variant | rs104894596 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_006096.4(NDRG1):c.537+2_537+10del | Deletion | Chr8:133256767 - 133256775 | Pathogenic | Inframe_deletion|splice donor variant | rs2130719557 |
.Institute of Bioinformatics |
| NM_024577.4(SH3TC2):c.289G>A (p.Ala97Thr) | Single nucleotide variant | Chr5:149044629 | Conflicting classifications of pathogenicity | Missense variant | rs562689036 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp) | Single nucleotide variant | Chr5:149027790 | Conflicting classifications of pathogenicity | Missense variant | rs537049075 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) | Single nucleotide variant | Chr5:149010272 | Pathogenic | Nonsense | rs80338934 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital .Neuberg Centre For Genomic Medicine, NCGM |
| NM_025137.4(SPG11):c.2716del (p.Gln906fs) | Deletion | Chr15:44620308 | Pathogenic | Frameshift variant | rs312262747 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) | Single nucleotide variant | Chr15:44626429 | Pathogenic/Likely pathogenic | Nonsense | rs312262737 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_025137.4(SPG11):c.733_734del (p.Met245fs) | Deletion | Chr15:44657230 - 44657231 | Pathogenic | Frameshift variant | rs312262720 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_003172.4(SURF1):c.535dup (p.Arg179fs) | Duplication | Chr9:133352746 - 133352747 | Pathogenic/Likely pathogenic | Frameshift variant | rs1836465016 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_021625.5(TRPV4):c.1219A>G (p.Lys407Glu) | Single nucleotide variant | Chr12:109796638 | Pathogenic | Missense variant|intron variant | rs515726153 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys) | Single nucleotide variant | Chr12:109784385 | Pathogenic | Missense variant | rs267607149 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) | Single nucleotide variant | Chr12:109792695 | Pathogenic/Likely pathogenic | Missense variant | rs77975504 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_007126.5(VCP):c.553G>A (p.Glu185Lys) | Single nucleotide variant | Chr9:35065274 | Likely pathogenic | Missense variant | rs864309501 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution