Familial adenomatous polyposis
An Autosomal dominant, Autosomal recessive mode(s) within the Cancer disorders category
Conflicting classifications of pathogenicity
1
Pathogenic
3
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000038.6(APC):c.2547_2550del (p.Asp849fs) | Deletion | Chr5:112838138 - 112838141 | Pathogenic | Frameshift variant | rs398123118 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) | Microsatellite | Chr5:112839515 - 112839519 | Pathogenic | Frameshift variant | rs121913224 |
.Biotechnology, Institute of Science, Nirma University .Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .GenePathDx, GenePath diagnostics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) | Single nucleotide variant | Chr1:45331220 | Pathogenic | Nonsense|non-coding transcript variant | rs121908381 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000376.3(VDR):c.803T>C (p.Ile268Thr) | Single nucleotide variant | Chr12:47846761 | Conflicting classifications of pathogenicity | Missense variant | rs1164008328 |
.Neuberg Centre For Genomic Medicine, NCGM |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar