An
Autosomal dominant, Autosomal recessive
mode(s) within the
Gastrointestinal disorders
category
Conflicting classifications of pathogenicity
2
Pathogenic
3
Pathogenic/Likely pathogenic
3
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_020975.6(RET):c.1438G>A (p.Glu480Lys) | Single nucleotide variant | Chr10:43111381 | Conflicting classifications of pathogenicity | Missense variant | rs537874538 |
.Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS |
| NM_020975.6(RET):c.1852T>A (p.Cys618Ser) | Single nucleotide variant | Chr10:43113648 | Pathogenic | Missense variant | rs76262710 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_020975.6(RET):c.2410G>A (p.Val804Met) | Single nucleotide variant | Chr10:43119548 | Pathogenic/Likely pathogenic | Missense variant | rs79658334 |
.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_020975.6(RET):c.1894G>A (p.Glu632Lys) | Single nucleotide variant | Chr10:43114494 | Conflicting classifications of pathogenicity | Missense variant | rs377767407 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_020975.6(RET):c.2753T>C (p.Met918Thr) | Single nucleotide variant | Chr10:43121968 | Pathogenic/Likely pathogenic | Missense variant | rs74799832 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_020975.6(RET):c.1900T>C (p.Cys634Arg) | Single nucleotide variant | Chr10:43114500 | Pathogenic/Likely pathogenic | Missense variant | rs75076352 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_020975.6(RET):c.1858T>C (p.Cys620Arg) | Single nucleotide variant | Chr10:43113654 | Pathogenic | Missense variant | rs77316810 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) | Single nucleotide variant | Chr10:43114501 | Pathogenic | Missense variant | rs75996173 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) .Neuberg Centre For Genomic Medicine, NCGM .Suma Genomics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution