An
Autosomal dominant
mode(s) within the
Cardiovascular disorders
category
Likely pathogenic
1
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001308093.3(GATA4):c.25G>A (p.Ala9Thr) | Single nucleotide variant | Chr8:11708337 | Uncertain significance | Missense variant|intron variant | rs864321699 |
.Cytogenetics- Mohapatra Lab, Banaras Hindu University |
| NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu) | Single nucleotide variant | Chr5:173233101 | Likely pathogenic | 3 prime UTR variant|missense variant | rs864321649 |
.Cytogenetics- Mohapatra Lab, Banaras Hindu University |
| 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) |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution