An
Autosomal dominant, Autosomal recessive
mode(s) within the
Neuromuscular disorders
category
Conflicting classifications of pathogenicity
2
Likely pathogenic
9
Pathogenic
8
Pathogenic/Likely pathogenic
6
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_020919.4(ALS2):c.2707dup (p.Met903fs) | Duplication | Chr2:201729056 - 201729057 | Pathogenic | Frameshift variant | rs2106012637 |
.Medical Genetics, Christian Medical College |
| NM_020919.4(ALS2):c.4223T>A (p.Leu1408Ter) | Single nucleotide variant | Chr2:201709938 | Pathogenic | Nonsense | rs2105972075 |
.Medical Genetics, Christian Medical College |
| NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) | Single nucleotide variant | Chr2:201724392 | Pathogenic/Likely pathogenic | Nonsense | rs767350733 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_004960.4(FUS):c.1468dup (p.Asp490fs) | Duplication | Chr16:31191033 - 31191034 | Likely pathogenic | Frameshift variant|non-coding transcript variant | rs2544279181 |
.Department of Research, Sir Ganga Ram Hospital |
| NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter) | Single nucleotide variant | Chr4:169507087 | Pathogenic | Nonsense|non-coding transcript variant|intron variant | rs773156346 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter) | Single nucleotide variant | Chr9:132288268 | Pathogenic | Nonsense | rs770684782 |
.Lifecell International Pvt. Ltd |
| NM_000454.5(SOD1):c.358G>T (p.Val120Phe) | Single nucleotide variant | Chr21:31668471 | Likely pathogenic | Missense variant |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
|
| NM_000454.5(SOD1):c.203T>C (p.Leu68Pro) | Single nucleotide variant | Chr21:31666482 | Likely pathogenic | Missense variant |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
|
| NM_000454.5(SOD1):c.68A>G (p.Gln23Arg) | Single nucleotide variant | Chr21:31659837 | Likely pathogenic | Non-coding transcript variant|missense variant |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
|
| NM_000454.5(SOD1):c.194T>G (p.Phe65Cys) | Single nucleotide variant | Chr21:31666473 | Likely pathogenic | Missense variant |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
|
| NM_000454.5(SOD1):c.281_283dup (p.Gly94_Val95insGly) | Duplication | Chr21:31667296 - 31667297 | Likely pathogenic |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
||
| NM_000454.5(SOD1):c.455T>A (p.Ile152Asn) | Single nucleotide variant | Chr21:31668568 | Likely pathogenic | Missense variant |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
|
| NM_000454.5(SOD1):c.43G>C (p.Val15Leu) | Single nucleotide variant | Chr21:31659812 | Pathogenic/Likely pathogenic | Missense variant | rs1568807400 |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000454.5(SOD1):c.43G>A (p.Val15Met) | Single nucleotide variant | Chr21:31659812 | Pathogenic/Likely pathogenic | Missense variant | rs1568807400 |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
| NM_000454.5(SOD1):c.262G>A (p.Val88Met) | Single nucleotide variant | Chr21:31667280 | Pathogenic/Likely pathogenic | Missense variant | rs1568810641 |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
| NM_000454.5(SOD1):c.255G>C (p.Leu85Phe) | Single nucleotide variant | Chr21:31667273 | Pathogenic/Likely pathogenic | Missense variant | rs1315541036 |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
| NM_000454.5(SOD1):c.317C>T (p.Ser106Leu) | Single nucleotide variant | Chr21:31667335 | Pathogenic/Likely pathogenic | Missense variant | rs1378590183 |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
| NM_000454.5(SOD1):c.397GAA[1] (p.Glu134del) | Microsatellite | Chr21:31668510 - 31668512 | Conflicting classifications of pathogenicity | Inframe_deletion | rs1568811423 |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
| NM_000454.5(SOD1):c.268G>A (p.Ala90Thr) | Single nucleotide variant | Chr21:31667286 | Conflicting classifications of pathogenicity | Missense variant | rs1568810660 | |
| NM_000454.5(SOD1):c.37G>C (p.Gly13Arg) | Single nucleotide variant | Chr21:31659806 | Likely pathogenic | Missense variant | rs121912456 |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
| NM_000454.5(SOD1):c.256G>C (p.Gly86Arg) | Single nucleotide variant | Chr21:31667274 | Pathogenic | Missense variant | rs121912436 |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
| NM_000454.5(SOD1):c.131A>G (p.His44Arg) | Single nucleotide variant | Chr21:31663848 | Pathogenic | Missense variant | rs121912435 |
.Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences |
| 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.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_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