An
Autosomal dominant
mode(s) within the
Cancer disorders
category
Conflicting classifications of pathogenicity
2
Likely pathogenic
1
Pathogenic
6
Pathogenic/Likely pathogenic
2
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000551.4(VHL):c.359G>A (p.Arg120Lys) | Single nucleotide variant | Chr3:10146532 | Likely pathogenic | Missense variant|non-coding transcript variant|intron variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_000551.4(VHL):c.575C>T (p.Pro192Leu) | Single nucleotide variant | Chr3:10149898 | Conflicting classifications of pathogenicity | Missense variant|3 prime UTR variant | rs902694906 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_000551.4(VHL):c.353T>G (p.Leu118Arg) | Single nucleotide variant | Chr3:10146526 | Pathogenic | Missense variant|intron variant | rs5030830 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_000551.4(VHL):c.583C>T (p.Gln195Ter) | Single nucleotide variant | Chr3:10149906 | Pathogenic | Nonsense|3 prime UTR variant | rs5030825 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_000551.4(VHL):c.548C>G (p.Ser183Trp) | Single nucleotide variant | Chr3:10149871 | Uncertain significance | Missense variant|3 prime UTR variant | rs5030823 | |
| NM_000551.4(VHL):c.482G>A (p.Arg161Gln) | Single nucleotide variant | Chr3:10149805 | Pathogenic | Missense variant|3 prime UTR variant | rs730882035 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_000551.4(VHL):c.499C>T (p.Arg167Trp) | Single nucleotide variant | Chr3:10149822 | Pathogenic/Likely pathogenic | Missense variant|3 prime UTR variant | rs5030820 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_000551.4(VHL):c.500G>A (p.Arg167Gln) | Single nucleotide variant | Chr3:10149823 | Pathogenic | Missense variant|3 prime UTR variant | rs5030821 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) .Neuberg Centre For Genomic Medicine, NCGM |
| NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) | Single nucleotide variant | Chr1:17033078 | Pathogenic | Nonsense | rs74315366 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_000551.4(VHL):c.172C>T (p.Arg58Trp) | Single nucleotide variant | Chr3:10142019 | Conflicting classifications of pathogenicity | Missense variant | rs757781272 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_000551.4(VHL):c.194C>A (p.Ser65Ter) | Single nucleotide variant | Chr3:10142041 | Pathogenic | Nonsense | rs5030826 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_000551.4(VHL):c.293A>C (p.Tyr98Ser) | Single nucleotide variant | Chr3:10142140 | Pathogenic/Likely pathogenic | Missense variant | rs864321643 |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution