SOS2 Chromosome 14
SOS Ras/Rho guanine nucleotide exchange factor 2
Upload your DNA to see your personal genotypes for variants in SOS2.
What This Gene Does
This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dbl family Rho GEFs"
Locus Type
gene with protein product
Location
14q21.3
Ensembl
ENSG00000100485
Associated Conditions (9)
Noonan syndrome 9
Cardiovascular phenotype
Noonan syndrome and Noonan-related syndrome
SOS2-related disorder
Noonan syndrome
Congenital heart disease
Male infertility due to gonadal dysgenesis or sperm disorder
Noonan syndrome 1
RASopathy
Key Variants
RS1005498417
Conflicting classifications of pathogenicity
Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9
Health Risk
RS1202582363
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Noonan syndrome 9, Cardiovascular phenotype
Health Risk
RS1202694189
Conflicting classifications of pathogenicity
Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9
Health Risk
RS1208838203
Conflicting classifications of pathogenicity
Noonan syndrome 9, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
Health Risk
RS1232489201
Conflicting classifications of pathogenicity
Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9
Health Risk
RS1273541394
Conflicting classifications of pathogenicity
Noonan syndrome 9, Cardiovascular phenotype, SOS2-related disorder
Health Risk
RS1286260102
Conflicting classifications of pathogenicity
Noonan syndrome 9, Noonan syndrome 9
Health Risk
RS1329009397
Conflicting classifications of pathogenicity
Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9
Health Risk
RS1344304906
Conflicting classifications of pathogenicity
Noonan syndrome 9, SOS2-related disorder, Cardiovascular phenotype
Health Risk
RS1344396759
Conflicting classifications of pathogenicity
Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9
Health Risk
RS1348457314
Conflicting classifications of pathogenicity
Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9
Health Risk
RS1364027643
Conflicting classifications of pathogenicity
Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9
Health Risk
All Variants (111)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS746664310 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS748480687 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS748632850 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS751240491 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Noonan syndrome 9 |
| RS751563078 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Noonan syndrome 9 |
| RS752525400 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS753283972 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS753546556 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS755233845 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 9, Cardiovascular phenotype |
| RS755783805 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, SOS2-related disorder, Noonan syndrome 9 |
| RS756399613 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 9, Cardiovascular phenotype |
| RS756565236 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS756637706 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS756711721 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS759124324 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS760520078 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Noonan syndrome 9 |
| RS761320331 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS761580972 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS762593451 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS762733592 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, SOS2-related disorder |
| RS763552267 | Health Risk | Conflicting classifications of pathogenicity | SOS2-related disorder, Noonan syndrome 9, SOS2-related disorder |
| RS763932554 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS765598266 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS766413225 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 9, Cardiovascular phenotype |
| RS766745289 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS767732779 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, SOS2-related disorder, Cardiovascular phenotype |
| RS769093505 | Health Risk | Conflicting classifications of pathogenicity | SOS2-related disorder, Noonan syndrome 9, SOS2-related disorder |
| RS769329817 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS769787486 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS769868981 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS770603835 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS770781571 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 9, Cardiovascular phenotype |
| RS772043913 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS772587016 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS772673873 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS773047395 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS773877975 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS774571340 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS775494170 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS776000121 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS776758961 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 9, Cardiovascular phenotype |
| RS777300218 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS778368766 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS779413196 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 9, Cardiovascular phenotype |
| RS779464455 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS780772018 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS781687371 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Congenital heart disease, Noonan syndrome 9 |
| RS865922330 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS868005783 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS886041958 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Noonan syndrome 9 |