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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOS2
(N1233T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SOS2
(P1150del +1 more)
Microsatellite
(inframe_deletion)
Noonan syndrome 9
GUncertain significance
SOS2
(I920V)
Single nucleotide variant
(missense variant)
SOS2-related disorder
+2 more
GUncertain significance
SOS2
(W728R +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 9
GUncertain significance
SOS2
(I459V)
Single nucleotide variant
(missense variant)
Noonan syndrome 9
+1 more
GUncertain significance
SOS2
(P447T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SOS2
(R354Q +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 9
GUncertain significance
SOS2
(L348V +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 9
GConflicting classifications of pathogenicity
SOS2
(L342M)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 9
GUncertain significance
SOS2
(E241K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SOS2
(R225Q)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
SOS2
(Y200C)
Single nucleotide variant
(missense variant)
Noonan syndrome 9
+1 more
GConflicting classifications of pathogenicity
LOC130055588, SOS2
Single nucleotide variant
(splice donor variant)
Noonan syndrome 9
GUncertain significance
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