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 |
|---|---|---|---|
| RS1005498417 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS1202582363 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 9, Cardiovascular phenotype |
| RS1202694189 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS1208838203 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype |
| RS1232489201 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS1273541394 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, SOS2-related disorder |
| RS1286260102 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Noonan syndrome 9 |
| RS1329009397 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS1344304906 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, SOS2-related disorder, Cardiovascular phenotype |
| RS1344396759 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS1348457314 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS1364027643 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS1372822403 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 9, Cardiovascular phenotype |
| RS1391029692 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS139401491 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS141214900 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS142863840 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, SOS2-related disorder, Cardiovascular phenotype |
| RS146272145 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS146527239 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS1471245340 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 9, Cardiovascular phenotype |
| RS148595463 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, SOS2-related disorder |
| RS148747022 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS1488158197 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype |
| RS151074097 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS1566831190 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 9, Cardiovascular phenotype |
| RS181275468 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Noonan syndrome, Cardiovascular phenotype |
| RS184739336 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, SOS2-related disorder, Cardiovascular phenotype |
| RS186110427 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS1884934797 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS200104745 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS201629454 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, SOS2-related disorder, Noonan syndrome 9 |
| RS201756168 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS201874067 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, SOS2-related disorder |
| RS2139733831 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Noonan syndrome 9 |
| RS2502989298 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Noonan syndrome 9 |
| RS370550495 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 9, Cardiovascular phenotype |
| RS372874114 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS373233749 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS375244948 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS532833599 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS553153992 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS553395791 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS556373963 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Noonan syndrome 9 |
| RS565261873 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS569343105 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, SOS2-related disorder |
| RS575983927 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS58365465 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS61755579 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Noonan syndrome 9 |
| RS745788940 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS746317294 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 9, Cardiovascular phenotype |