An
Autosomal dominant
mode(s) within the
Multisystemic disorders
category
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar
Likely pathogenic
3
Pathogenic
4
Pathogenic/Likely pathogenic
2
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_017780.4(CHD7):c.619C>T (p.Gln207Ter) | Single nucleotide variant | Chr8:60742051 | Pathogenic | Nonsense | rs2487267049 |
.Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi |
| NM_017780.4(CHD7):c.2333C>G (p.Ala778Gly) | Single nucleotide variant | Chr8:60800482 | Uncertain significance | Missense variant|intron variant | rs747595218 |
.Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi |
| NM_017780.4(CHD7):c.3757_3778+7del | Deletion | Chr8:60830554 - 60830582 | Likely pathogenic | Splice donor variant|intron variant | rs2487855072 |
.Lifecell International Pvt. Ltd |
| NM_017780.4(CHD7):c.5480del (p.Lys1827fs) | Deletion | Chr8:60850567 | Likely pathogenic | Frameshift variant|intron variant | rs2488015610 |
.Lifecell International Pvt. Ltd |
| NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter) | Single nucleotide variant | Chr8:60861098 | Pathogenic/Likely pathogenic | Nonsense|intron variant | rs1563669432 |
.Lifecell International Pvt. Ltd |
| NM_017780.4(CHD7):c.5504_5508delinsT (p.Gly1835fs) | Indel | Chr8:60850592 - 60850596 | Likely pathogenic | Frameshift variant|intron variant | rs1586440620 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) | Single nucleotide variant | Chr8:60822651 | Pathogenic | Nonsense|intron variant | rs1554597716 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) | Single nucleotide variant | Chr8:60781069 | Pathogenic/Likely pathogenic | Nonsense|intron variant | rs780953224 |
.Lifecell International Pvt. Ltd |
| NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter) | Single nucleotide variant | Chr8:60852186 | Pathogenic | Nonsense|intron variant | rs757160222 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) | Single nucleotide variant | Chr8:60822504 | Pathogenic | Nonsense|intron variant | rs886040983 |
.Lifecell International Pvt. Ltd |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar