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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOS1
Single nucleotide variant
(3 prime UTR variant)
RASopathy
GBenign
SOS1
(T1257A +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
SOS1
(D1200E +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GLikely benign
SOS1
Single nucleotide variant
(intron variant)
RASopathy
GBenign
SOS1
Single nucleotide variant
(intron variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SOS1
(N1011S +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GBenign
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
SOS1
(R989K +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
SOS1
(E946Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SOS1
(D910H +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
SOS1
(E873fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
SOS1
Duplication
(intron variant)
SOS1-related condition
+3 more
GConflicting classifications of pathogenicity
SOS1
(L791I +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GBenign
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
SOS1
(A708T +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GBenign
SOS1
(P655L +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GBenign
SOS1
Single nucleotide variant
(synonymous variant)
Noonan syndrome and Noonan-related syndrome
+5 more
GConflicting classifications of pathogenicity
SOS1
(I607T +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GConflicting classifications of pathogenicity
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
SOS1
(R552K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SOS1
(S548R +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SOS1
(Y510H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOS1
(I437T +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+7 more
GPathogenic/Likely pathogenic
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
SOS1
(D366E +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SOS1
Single nucleotide variant
(intron variant)
RASopathy
GBenign
SOS1
(S297L +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+3 more
GUncertain significance
SOS1
(N233S +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GLikely benign
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
SOS1
(I185V +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GBenign
SOS1
(K163E +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
SOS1
(V41A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
SOS1
(T37A +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GLikely benign
LOC129933535, SOS1
(P25S)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GBenign
LOC129933535, SOS1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
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