An
Autosomal recessive
mode(s) within the
Metabolic disorders
category
Conflicting classifications of pathogenicity
1
Likely pathogenic
3
Pathogenic
3
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000340.2(SLC2A2):c.469G>C (p.Gly157Arg) | Single nucleotide variant | Chr3:171009985 | Conflicting classifications of pathogenicity | Missense variant|intron variant | rs750836049 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_000340.2(SLC2A2):c.613-7T>G | Single nucleotide variant | Chr3:171006112 | Likely pathogenic | Intron variant | rs2108244550 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_000340.2(SLC2A2):c.2T>G (p.Met1Arg) | Single nucleotide variant | Chr3:171026669 | Pathogenic | Missense variant|initiator_codon_variant|5 prime UTR variant | rs1716716102 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_000340.2(SLC2A2):c.589G>C (p.Val197Leu) | Single nucleotide variant | Chr3:171007171 | Likely pathogenic | Missense variant | rs121909741 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000340.2(SLC2A2):c.1246G>A (p.Gly416Ser) | Single nucleotide variant | Chr3:170998321 | Likely pathogenic | Missense variant | rs1553785033 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_000340.2(SLC2A2):c.952G>A (p.Gly318Arg) | Single nucleotide variant | Chr3:171005296 | Pathogenic | Missense variant | rs780067980 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) | Single nucleotide variant | Chr3:170999142 | Pathogenic | Nonsense | rs121909742 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi .Lifecell International Pvt. Ltd |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution