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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOS1
(T1279I +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SOS1
(T1257A +2 more)
Single nucleotide variant
(missense variant)
Fibromatosis, gingival, 1
+4 more
GConflicting classifications of pathogenicity
SOS1
(S1184P +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SOS1
(D880E +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+3 more
GUncertain significance
SOS1
(E642A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOS1
(I645T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SOS1
(R552M +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GLikely 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
(D520N +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
SOS1
(R490G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOS1
(G434R +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
SOS1
(G424S +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+3 more
GUncertain significance
SOS1
(D366E +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GUncertain significance
SOS1
(A165G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SOS1
(I103V +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GUncertain significance
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