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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOS1
(P1237A +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
SOS1
(P1236T +2 more)
Single nucleotide variant
(missense variant)
RASopathy
+4 more
GConflicting classifications of pathogenicity
SOS1
Deletion
(splice donor variant +1 more)
Noonan syndrome 4
+5 more
GUncertain significance
SOS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SOS1
Single nucleotide variant
(splice acceptor variant +1 more)
Noonan syndrome and Noonan-related syndrome
+7 more
GUncertain significance
SOS1
(S1096T +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
SOS1
(F991L +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+1 more
GConflicting classifications of pathogenicity
SOS1
(L791I +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GBenign
SOS1
(Q559H +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
(M551I +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
(R497Q +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GLikely benign
SOS1
(I245L +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GUncertain significance
SOS1
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SOS1
(E191K +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
SOS1
(I94V +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GLikely benign
LOC129933535, SOS1
(E13G)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
LOC129933535, SOS1
(Q2K)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
+1 more
GUncertain significance
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