SOS2 Chromosome 14
SOS Ras/Rho guanine nucleotide exchange factor 2
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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 |
|---|---|---|---|
| RS935249167 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS955430620 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS956839910 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 9, Cardiovascular phenotype, Noonan syndrome 9 |
| RS976486198 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome, Noonan syndrome 9, Cardiovascular phenotype |
| RS1885777585 | Health Risk | Likely pathogenic | Noonan syndrome 9, Noonan syndrome 9 |
| RS2503347123 | Health Risk | Likely pathogenic | Male infertility due to gonadal dysgenesis or sperm disorder, Male infertility due to gonadal dysgenesis or sperm disorder |
| RS869320687 | Health Risk | Likely pathogenic | Noonan syndrome 9, Noonan syndrome, Noonan syndrome 1 |
| RS1594982548 | Health Risk | Pathogenic | Noonan syndrome, Noonan syndrome 9, Noonan syndrome |
| RS1595001710 | Health Risk | Pathogenic | Noonan syndrome, Noonan syndrome 9, RASopathy |
| RS2502991901 | Health Risk | Pathogenic | Noonan syndrome 9, Noonan syndrome 9 |
| RS797045167 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome 9, RASopathy, Noonan syndrome 9 |