An
Autosomal dominant, Autosomal recessive
mode(s) within the
Neurodegenerative disorders
category
Likely pathogenic
2
Pathogenic
2
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_006796.3(AFG3L2):c.1951A>G (p.Arg651Gly) | Single nucleotide variant | Chr18:12340230 | Likely pathogenic | Missense variant | rs764254189 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_177400.3(NKX6-2):c.516C>G (p.Tyr172Ter) | Single nucleotide variant | Chr10:132785343 | Pathogenic | Nonsense | rs2134706418 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_014363.6(SACS):c.2185+1G>T | Single nucleotide variant | Chr13:23353784 | Likely pathogenic | Splice donor variant | rs2542384410 |
.Lifecell International Pvt. Ltd |
| NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) | Single nucleotide variant | Chr13:23334571 | Pathogenic | Nonsense | rs886041949 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) | Single nucleotide variant | Chr16:89556933 | Pathogenic/Likely pathogenic | 3 prime UTR variant|missense variant | rs752623413 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution