Hyperimmunoglobulin D with periodic fever
An Autosomal recessive mode(s) within the Immune disorders category
Likely pathogenic
1
Pathogenic
1
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000431.4(MVK):c.1043T>C (p.Leu348Pro) | Single nucleotide variant | Chr12:109596429 | Uncertain significance | Missense variant|non-coding transcript variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_000431.4(MVK):c.1097A>G (p.Asp366Gly) | Single nucleotide variant | Chr12:109596483 | Likely pathogenic | Missense variant|3 prime UTR variant|non-coding transcript variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) | Single nucleotide variant | Chr12:109596548 | Pathogenic | Nonsense | rs104895360 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000431.4(MVK):c.1129G>A (p.Val377Ile) | Single nucleotide variant | Chr12:109596515 | Pathogenic/Likely pathogenic | Missense variant | rs28934897 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution