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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOS1
(H1305D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SOS1
(P1238L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOS1
(F1249L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SOS1
(I1198V +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SOS1
(P1165L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOS1
(R1143Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SOS1
(R1131K +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+5 more
GUncertain significance
SOS1
Single nucleotide variant
(splice acceptor variant +1 more)
not specified
+7 more
GUncertain significance
SOS1
(E846K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SOS1
(G742S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOS1
(I733F +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
SOS1
(R552G +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SOS1
(L550P +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
SOS1
(G469R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOS1
(D366E +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GUncertain significance
SOS1
(P298R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOS1
(T263R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOS1
(M269T +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SOS1
(I223T +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+5 more
GUncertain significance
SOS1
(V171A +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GLikely pathogenic
SOS1
(E39K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LOC129933535, SOS1
(A3S)
Single nucleotide variant
(missense variant +1 more)
Fibromatosis, gingival, 1
+4 more
GConflicting classifications of pathogenicity
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