An
X-linked recessive
mode(s) within the
Neurodevelopmental disorders
category
Likely pathogenic
3
Pathogenic
7
Pathogenic/Likely pathogenic
9
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_173660.5(DOK7):c.1263dup (p.Ser422fs) | Duplication | Chr4:3493242 - 3493243 | Pathogenic/Likely pathogenic | Frameshift variant|3 prime UTR variant | rs606231129 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_005249.5(FOXG1):c.314_335del (p.Pro105fs) | Deletion | Chr14:28767591 - 28767612 | Pathogenic | Frameshift variant | rs2502224768 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_005249.5(FOXG1):c.339del (p.Ala114fs) | Deletion | Chr14:28767617 | Likely pathogenic | Frameshift variant | rs2502224874 |
.Lifecell International Pvt. Ltd |
| NM_005249.5(FOXG1):c.609_613dup (p.Asn205fs) | Duplication | Chr14:28767887 - 28767888 | Likely pathogenic | Frameshift variant | rs2502226013 |
.Lifecell International Pvt. Ltd |
| NM_005249.5(FOXG1):c.635T>C (p.Met212Thr) | Single nucleotide variant | Chr14:28767914 | Likely pathogenic | Missense variant | rs2138661267 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_005249.5(FOXG1):c.602G>C (p.Arg201Pro) | Single nucleotide variant | Chr14:28767881 | Pathogenic/Likely pathogenic | Missense variant | rs2138661213 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_005249.5(FOXG1):c.506del (p.Gly169fs) | Deletion | Chr14:28767780 | Pathogenic | Frameshift variant | rs1452295073 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg) | Single nucleotide variant | ChrX:154030923 | Pathogenic/Likely pathogenic | Missense variant | rs61749723 |
.Lifecell International Pvt. Ltd .Suma Genomics |
| NM_001110792.2(MECP2):c.746dup (p.Gly250fs) | Duplication | ChrX:154031117 - 154031118 | Pathogenic/Likely pathogenic | Frameshift variant | rs61749743 |
.Lifecell International Pvt. Ltd |
| NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) | Single nucleotide variant | ChrX:154031373 | Pathogenic | Missense variant|intron variant | rs61748404 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) | Single nucleotide variant | ChrX:154031427 | Pathogenic/Likely pathogenic | Missense variant|5 prime UTR variant | rs61748390 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001110792.2(MECP2):c.842del (p.Gly281fs) | Deletion | ChrX:154031022 | Pathogenic | Frameshift variant | rs61750241 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) | Single nucleotide variant | ChrX:154031065 | Pathogenic/Likely pathogenic | Nonsense | rs61749721 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) | Single nucleotide variant | ChrX:154031326 | Pathogenic | Nonsense|intron variant | rs61748421 |
.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 .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) | Single nucleotide variant | ChrX:154030912 | Pathogenic | Missense variant | rs28935468 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM .Suma Genomics |
| NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) | Single nucleotide variant | ChrX:154031409 | Pathogenic/Likely pathogenic | Missense variant|5 prime UTR variant | rs28934908 |
.Lifecell International Pvt. Ltd |
| NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) | Single nucleotide variant | ChrX:154032268 | Pathogenic/Likely pathogenic | Missense variant|5 prime UTR variant | rs28934907 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) | Single nucleotide variant | ChrX:154031355 | Pathogenic/Likely pathogenic | Missense variant|intron variant | rs28934906 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) | Single nucleotide variant | ChrX:154031431 | Pathogenic | Missense variant|5 prime UTR variant | rs28934904 |
.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 .Neuberg Centre For Genomic Medicine, NCGM |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution