NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)Pathogenic
Noonan syndrome 4|Noonan syndrome|not provided|RASopathy|Noonan syndrome 4;Fibromatosis, gingival, 1|Noonan syndrome and Noonan-related syndrome|Noonan syndrome 1
β
β
β
β2025β Residue 552
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser)Pathogenic
Noonan syndrome|RASopathy|not provided|Noonan syndrome 4;Fibromatosis, gingival, 1|Noonan syndrome and Noonan-related syndrome|Noonan syndrome 4|See cases|Cardiovascular phenotype
β
β
β
β2019β Residue 552
NM_005633.4(SOS1):c.1655G>T (p.Arg552Met)Likely pathogenic
not provided|RASopathy|Noonan syndrome and Noonan-related syndrome|Noonan syndrome
β
β
β
β2019β Residue 552
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)Pathogenic
not provided|Noonan syndrome|RASopathy|Abnormal aortic valve morphology|Noonan syndrome 4|Noonan syndrome and Noonan-related syndrome|Cardiovascular phenotype|SOS1-related disorder|Noonan syndrome 1|Fetal anomalies with a likely genetic cause
β
β
β
β2019β Residue 552
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)Pathogenic
not provided|Noonan syndrome|Noonan syndrome 3|Noonan syndrome 1|RASopathy|Noonan syndrome 4|Fibromatosis, gingival, 1|Embryonal rhabdomyosarcoma
β
β
β
β2019β Residue 552
NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp)Likely pathogenic
not provided|Noonan syndrome and Noonan-related syndrome|RASopathy
β
β
β
β2019β Residue 552
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile)Likely pathogenic
Noonan syndrome and Noonan-related syndrome|Noonan syndrome 1|Fibromatosis, gingival, 1|Noonan syndrome 4|not provided
β
β
β
β2019β Residue 623
NM_005633.4(SOS1):c.512T>C (p.Val171Ala)Likely pathogenic
Noonan syndrome|Noonan syndrome and Noonan-related syndrome|not provided
β
β
β
β2019β Residue 171
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys)Pathogenic
Noonan syndrome|not provided|RASopathy|Noonan syndrome 4;Fibromatosis, gingival, 1|Noonan syndrome and Noonan-related syndrome|Cardiovascular phenotype|SOS1-related disorder|Noonan syndrome 4
β
β
β
β2017β Residue 846
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)Pathogenic
Noonan syndrome 4|Noonan syndrome|not provided|RASopathy|Noonan syndrome 4;Fibromatosis, gingival, 1|Cardiovascular phenotype
β
β
β
β2017β Residue 552
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys)Pathogenic
Noonan syndrome|not provided|RASopathy|Noonan syndrome and Noonan-related syndrome|Noonan syndrome 4
β
β
β
β2017β Residue 108
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)Pathogenic
Noonan syndrome|not provided|RASopathy|not specified|Neonatal hypotonia|Noonan syndrome 4|Cardiovascular phenotype|SOS1-related disorder
β
β
β
β2017β Residue 170
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)Pathogenic
not provided|Noonan syndrome|Noonan syndrome 4|RASopathy|Noonan syndrome and Noonan-related syndrome|Cardiovascular phenotype|Noonan syndrome 1
β
β
β
β2017β Residue 269
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)Pathogenic
Noonan syndrome|not provided|RASopathy|Noonan syndrome 4;Fibromatosis, gingival, 1|Noonan syndrome and Noonan-related syndrome|Noonan syndrome 4|Noonan syndrome 1|Cardiovascular phenotype
β
β
β
β2017β Residue 548
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His)Pathogenic
Noonan syndrome|not provided|RASopathy|Noonan syndrome 4;Fibromatosis, gingival, 1|Noonan syndrome 4
β
β
ββ2026β Residue 702
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)Pathogenic
Noonan syndrome|Ptosis;Short stature;Pulmonic stenosis;Abnormal sternum morphology|RASopathy|Noonan syndrome 1|not provided|Noonan syndrome 4|Fetal cystic hygroma|Noonan syndrome and Noonan-related syndrome|Noonan syndrome 4;Fibromatosis, gingival, 1|Cardiovascular phenotype
β
β
ββ2025β Residue 434
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)Pathogenic
Noonan syndrome 4|Noonan syndrome|RASopathy|not provided|Noonan syndrome 4;Fibromatosis, gingival, 1|Noonan syndrome 1|Monogenic short statue
β
β
ββ2025β Residue 266
NM_005633.4(SOS1):c.305C>G (p.Pro102Arg)Pathogenic
RASopathy|not provided|Noonan syndrome 4
β
β
ββ2025β Residue 102
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys)Pathogenic
Noonan syndrome|not provided|RASopathy|Noonan syndrome and Noonan-related syndrome|Noonan syndrome 4|Noonan syndrome 1
β
β
ββ2025β Residue 433
NM_005633.4(SOS1):c.2207T>G (p.Ile736Arg)Likely pathogenic
Inborn genetic diseases|Fibromatosis, gingival, 1|Noonan syndrome 4
β
β
ββ2025β Residue 736